Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6331
Gene name Gene Name - the full gene name approved by the HGNC.	Sodium voltage-gated channel alpha subunit 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SCN5A
Synonyms (NCBI Gene) Gene synonyms aliases	CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p22.2
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an e

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1805124	T>C	Pathogenic, likely-benign, benign	Coding sequence variant, missense variant
rs7626962	G>A,T	Pathogenic, benign, likely-benign, benign-likely-benign, risk-factor	Coding sequence variant, intron variant, missense variant
rs12720064	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs12720452	C>T	Likely-benign, uncertain-significance, pathogenic, not-provided	Missense variant, coding sequence variant
rs28937316	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs28937317	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs28937318	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs28937319	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs41261344	C>T	Pathogenic, risk-factor, uncertain-significance, benign-likely-benign, benign	Coding sequence variant, missense variant
rs41276525	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs41311117	A>C,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign, likely-benign, not-provided	Coding sequence variant, missense variant
rs41311121	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs41313031	G>A	Likely-benign, pathogenic, benign	Coding sequence variant, missense variant
rs41313033	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign, benign, likely-benign	Coding sequence variant, synonymous variant
rs41315493	C>A,T	Uncertain-significance, benign-likely-benign, benign, likely-pathogenic, likely-benign, not-provided	Coding sequence variant, missense variant
rs45471994	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-benign, not-provided	Intron variant, coding sequence variant, missense variant
rs45475899	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs45489199	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs45514691	G>A,T	Likely-pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant
rs45546039	C>A,T	Pathogenic, not-provided	Intron variant, coding sequence variant, missense variant
rs45553235	G>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs45563942	A>G	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs45620037	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance, likely-benign, not-provided	Intron variant, coding sequence variant, missense variant
rs61737825	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs72549410	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs72549411	G>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, uncertain-significance	Intron variant
rs137854600	C>A,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137854601	C>A,T	Pathogenic, likely-pathogenic, not-provided	Stop gained, missense variant, coding sequence variant
rs137854602	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137854603	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs137854604	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs137854605	GA>TT	Pathogenic	Missense variant, coding sequence variant
rs137854606	C>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137854607	C>G,T	Pathogenic, likely-pathogenic, not-provided	Missense variant, intron variant, coding sequence variant
rs137854608	C>T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs137854609	C>A,T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs137854610	C>T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs137854611	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs137854612	C>T	Pathogenic	Missense variant, coding sequence variant
rs137854613	G>A,T	Pathogenic, uncertain-significance	Stop gained, synonymous variant, coding sequence variant
rs137854614	T>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137854615	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs137854616	C>T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs137854617	C>A,T	Pathogenic, likely-pathogenic, not-provided, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs137854618	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs137854619	C>T	Benign, likely-benign, pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs137854620	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs150264233	G>A,T	Conflicting-interpretations-of-pathogenicity, benign, pathogenic, uncertain-significance, likely-benign	Stop gained, coding sequence variant, missense variant
rs187531872	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs199473044	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473045	C>A,T	Pathogenic, not-provided, likely-benign	Coding sequence variant, missense variant
rs199473054	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473055	G>A,C	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473058	C>T	Pathogenic	Coding sequence variant, missense variant
rs199473062	C>A,G,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473070	A>G,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473071	C>T	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473072	G>A	Pathogenic, not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473073	A>G	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473078	C>G	Not-provided, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199473082	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473083	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473097	G>A	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473100	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473101	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473105	A>G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473108	G>A,C,T	Not-provided, likely-pathogenic	Coding sequence variant, synonymous variant, missense variant
rs199473111	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473112	G>A,C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473115	G>A,C	Pathogenic, not-provided	Coding sequence variant, synonymous variant, missense variant
rs199473118	G>A	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473119	G>A,T	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473121	C>T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473124	A>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473149	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473153	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs199473156	A>C,G	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473161	G>A,T	Pathogenic, likely-pathogenic, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs199473165	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473168	G>A	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473169	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs199473171	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473172	C>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473175	G>A,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs199473180	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473182	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473183	A>G	Likely-benign, not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473187	G>A	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473198	T>G	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473207	G>A	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473211	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473218	C>A,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473220	C>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473222	C>A	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473224	C>G,T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473225	G>A,C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473226	T>C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473249	C>A,G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs199473253	G>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473259	G>C,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473260	T>C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473262	T>C,G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473263	A>G	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473266	G>C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473282	G>A,T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473283	C>A,G,T	Pathogenic, not-provided, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199473284	G>A,C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473286	C>T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473288	G>A,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473292	C>G,T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473293	C>G,T	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473303	G>A,T	Pathogenic, not-provided, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs199473305	C>T	Pathogenic	Coding sequence variant, missense variant
rs199473310	T>A,C,G	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473311	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473315	A>G,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473316	C>G,T	Pathogenic, benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473318	T>C,G	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473324	A>G,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473326	T>C	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant
rs199473331	C>A,G,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473335	G>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473554	C>T	Pathogenic	Coding sequence variant, missense variant
rs199473556	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473559	G>A,T	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473565	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199473573	A>C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473576	G>A,C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473579	C>A,T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs199473584	C>T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473592	C>G,T	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473598	C>A,T	Pathogenic, not-provided, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs199473603	G>A	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473606	C>A,T	Pathogenic, not-provided	Coding sequence variant, missense variant, stop gained
rs199473609	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473613	T>C	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473620	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained, intron variant
rs199473621	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs199473623	C>T	Pathogenic, not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473625	T>C	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs199473628	T>C	Not-provided, likely-pathogenic	Coding sequence variant, missense variant
rs199473631	C>T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs199473633	T>A,C	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473635	G>A	Not-provided, likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs199473638	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200034939	C>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs200334972	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant, missense variant
rs200569112	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs200868190	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs368678204	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs368980118	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Coding sequence variant, synonymous variant
rs369704754	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, intron variant, missense variant
rs370346797	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs370438420	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs370588133	G>A	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs370694515	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs372395294	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs373172185	A>G,T	Pathogenic, likely-benign	Coding sequence variant, synonymous variant, stop gained
rs374557801	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs397514251	GGGGCTTCT>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs397514252	->TT	Pathogenic	Intron variant
rs397514446	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs397514447	A>G	Pathogenic	Splice donor variant
rs397514448	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs397514449	->CAT	Pathogenic	Inframe insertion, coding sequence variant
rs397514450	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs483353016	C>T	Likely-pathogenic	Splice donor variant
rs557957405	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587781159	G>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity, benign	Stop gained, coding sequence variant, synonymous variant
rs727503411	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs727504801	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs727505158	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs730880211	GC>AA	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, coding sequence variant
rs748312802	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs749697698	AAG>-	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion
rs750013499	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs751050999	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs754221948	G>A	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, splice donor variant
rs756159737	CT>-	Likely-pathogenic, pathogenic, uncertain-significance	Frameshift variant, coding sequence variant
rs756474485	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs757532106	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Stop gained, coding sequence variant
rs759235726	G>A	Likely-pathogenic	Splice acceptor variant
rs759924541	C>A,G,T	Pathogenic-likely-pathogenic, uncertain-significance	Stop gained, intron variant, missense variant, coding sequence variant
rs760011764	A>G	Likely-pathogenic, uncertain-significance	Intron variant, missense variant, coding sequence variant
rs761117662	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs761505217	G>A	Pathogenic	Stop gained, coding sequence variant
rs765669597	A>C,T	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, stop gained
rs766751878	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs772258197	C>A,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs774537241	C>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs777689378	T>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs780761880	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs786204839	A>G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs786205271	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs794728843	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs794728846	C>T	Likely-pathogenic	Splice acceptor variant
rs794728847	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728849	G>A,C	Pathogenic, likely-pathogenic	Missense variant, intron variant, stop gained, coding sequence variant
rs794728850	T>G	Pathogenic	Intron variant, coding sequence variant, synonymous variant
rs794728851	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728854	G>A,T	Likely-benign, pathogenic	Stop gained, coding sequence variant, synonymous variant
rs794728858	C>T	Pathogenic	Splice acceptor variant
rs794728859	T>C	Pathogenic	Splice acceptor variant
rs794728864	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs794728865	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs794728868	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794728873	G>A	Pathogenic	Stop gained, coding sequence variant
rs794728875	A>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794728876	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728877	G>A	Pathogenic	Missense variant, coding sequence variant
rs794728879	C>A,G,T	Pathogenic, likely-pathogenic	Splice donor variant
rs794728880	A>G,T	Likely-pathogenic	Splice donor variant
rs794728885	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728888	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728889	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728890	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794728891	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs794728892	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728893	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728895	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728897	A>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794728898	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs794728900	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs794728902	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728903	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs794728906	GCTT>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728907	GC>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728908	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728909	C>-	Pathogenic	Stop gained, coding sequence variant
rs794728910	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728911	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728912	C>-	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728914	AA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728915	T>GGG	Pathogenic	Frameshift variant, coding sequence variant
rs794728917	CACAGCGATGGG>ACACAGTCAGA	Pathogenic	Frameshift variant, coding sequence variant
rs794728918	->G	Pathogenic	Frameshift variant, coding sequence variant
rs794728919	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728920	TGA>-	Pathogenic	Inframe deletion, coding sequence variant
rs794728921	CTC>-	Pathogenic	Splice acceptor variant, intron variant, coding sequence variant
rs794728922	GTT>-	Not-provided, likely-pathogenic	Inframe deletion, coding sequence variant
rs794728924	ACAG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs794728928	A>G,T	Pathogenic	Splice donor variant
rs794728931	C>T	Pathogenic	Stop gained, coding sequence variant
rs794728934	A>G,T	Pathogenic, uncertain-significance	Intron variant
rs794728936	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs794728938	C>A,G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs794728940	G>A	Uncertain-significance, not-provided, pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs794728941	G>C,T	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs794728942	->GT	Pathogenic	Frameshift variant, coding sequence variant
rs794728943	T>-	Pathogenic	Splice acceptor variant, intron variant
rs794728944	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs794728945	->TCAGA	Pathogenic	Stop gained, coding sequence variant
rs863224532	G>C	Pathogenic	Stop gained, coding sequence variant
rs863224533	AAG>TAC	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs863225273	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs869025517	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs869025519	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs869025520	G>A	Pathogenic, likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs869025522	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs869025523	->CA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs878855287	CCACAGCGATGGG>ACACAGTCAGA	Pathogenic	Frameshift variant, coding sequence variant
rs878855292	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs878855296	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs886037903	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886039018	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886039455	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886041848	C>T	Pathogenic	Stop gained, coding sequence variant
rs977717858	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518916	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057523393	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524447	C>T	Likely-pathogenic	Splice donor variant
rs1060499940	GTA>-	Pathogenic	Inframe deletion, coding sequence variant
rs1060499941	C>T	Pathogenic	Synonymous variant, coding sequence variant
rs1060501114	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060501127	AGTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1060501130	C>A	Likely-pathogenic	Splice donor variant
rs1060501135	C>T	Pathogenic	Stop gained, coding sequence variant
rs1060501136	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs1060501142	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060501145	C>A	Pathogenic	Stop gained, coding sequence variant
rs1064792926	GGTGGCAATGCAG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1064793326	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1064793651	->ATTGGAA	Pathogenic	Frameshift variant, coding sequence variant
rs1064794424	->TCAC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064795085	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064795784	A>-	Pathogenic, likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064796233	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307527	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1085307710	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1131691708	CG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1204915217	C>T	Likely-pathogenic, uncertain-significance	Synonymous variant, coding sequence variant
rs1207394743	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs1237724419	C>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1312714061	T>A,C	Likely-pathogenic	Splice acceptor variant
rs1366120635	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs1377226524	C>T	Likely-pathogenic	Splice acceptor variant
rs1417036453	G>A	Pathogenic	Coding sequence variant, stop gained
rs1450434935	C>-,CC	Likely-pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1474459822	->ATC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1480085793	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553605932	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553607561	A>T	Pathogenic	Stop gained, coding sequence variant
rs1553607722	T>A	Likely-pathogenic	Missense variant, initiator codon variant
rs1553692416	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553692660	AG>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1553692734	C>A	Pathogenic	Stop gained, coding sequence variant
rs1553694426	G>-	Pathogenic	Stop gained, coding sequence variant
rs1553695282	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1553695398	CGGGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553695764	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553695847	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553696647	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553698563	C>G	Likely-pathogenic	Splice acceptor variant
rs1553699292	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1553699607	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553699663	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553699747	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1553699766	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553700699	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553703211	C>T	Likely-pathogenic	Splice donor variant
rs1553704183	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553704878	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553704898	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553705586	T>C	Likely-pathogenic	Splice acceptor variant
rs1553706324	C>G	Uncertain-significance, likely-pathogenic	Splice acceptor variant, intron variant
rs1559720176	C>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1559720870	TA>-	Pathogenic	Stop gained, coding sequence variant
rs1559720961	CTCA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559721331	A>C	Pathogenic	Missense variant, coding sequence variant
rs1559725687	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559727990	G>A	Pathogenic	Stop gained, coding sequence variant
rs1559729142	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1559738598	G>C	Likely-pathogenic	Stop gained, coding sequence variant
rs1559778838	G>A,C	Likely-benign, likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1575703249	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1575705549	ATG>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1575706847	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575719863	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1575728590	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575751854	G>A	Pathogenic	Coding sequence variant, stop gained
rs1575773471	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1575853007	T>C	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT732135	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	26209011
MIRT732135	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	26209011
MIRT732135	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	26209011
MIRT732135	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	26209011
MIRT1330206	hsa-miR-1299	CLIP-seq
MIRT1330207	hsa-miR-3924	CLIP-seq
MIRT1330208	hsa-miR-3944-5p	CLIP-seq
MIRT1330209	hsa-miR-4277	CLIP-seq
MIRT1330210	hsa-miR-4289	CLIP-seq
MIRT1330211	hsa-miR-4782-5p	CLIP-seq
MIRT1330212	hsa-miR-516b	CLIP-seq
MIRT1330213	hsa-miR-548c-3p	CLIP-seq
MIRT1330214	hsa-miR-875-3p	CLIP-seq
MIRT2097820	hsa-miR-1225-3p	CLIP-seq
MIRT2097821	hsa-miR-1233	CLIP-seq
MIRT2097822	hsa-miR-3064-3p	CLIP-seq
MIRT2097823	hsa-miR-3065-3p	CLIP-seq
MIRT2097824	hsa-miR-3127-3p	CLIP-seq
MIRT2097825	hsa-miR-365	CLIP-seq
MIRT2097826	hsa-miR-4291	CLIP-seq
MIRT2097827	hsa-miR-4313	CLIP-seq
MIRT2097828	hsa-miR-4464	CLIP-seq
MIRT2097829	hsa-miR-4640-5p	CLIP-seq
MIRT2097830	hsa-miR-4659a-5p	CLIP-seq
MIRT2097831	hsa-miR-4659b-5p	CLIP-seq
MIRT2097832	hsa-miR-4688	CLIP-seq
MIRT2097833	hsa-miR-4719	CLIP-seq
MIRT2097834	hsa-miR-4726-5p	CLIP-seq
MIRT2097835	hsa-miR-4748	CLIP-seq
MIRT2097836	hsa-miR-4776-3p	CLIP-seq
MIRT2097837	hsa-miR-759	CLIP-seq
MIRT2322120	hsa-miR-3184	CLIP-seq
MIRT2322121	hsa-miR-423-5p	CLIP-seq
MIRT2458947	hsa-miR-1236	CLIP-seq
MIRT2458948	hsa-miR-1238	CLIP-seq
MIRT1330206	hsa-miR-1299	CLIP-seq
MIRT2458949	hsa-miR-2277-3p	CLIP-seq
MIRT2458950	hsa-miR-3183	CLIP-seq
MIRT2458951	hsa-miR-4269	CLIP-seq
MIRT2458952	hsa-miR-4514	CLIP-seq
MIRT2458953	hsa-miR-4692	CLIP-seq
MIRT2458954	hsa-miR-4723-3p	CLIP-seq
MIRT2458955	hsa-miR-4742-5p	CLIP-seq
MIRT1330211	hsa-miR-4782-5p	CLIP-seq
MIRT1330212	hsa-miR-516b	CLIP-seq
MIRT2458956	hsa-miR-542-3p	CLIP-seq
MIRT1330214	hsa-miR-875-3p	CLIP-seq
MIRT1330206	hsa-miR-1299	CLIP-seq
MIRT2458949	hsa-miR-2277-3p	CLIP-seq
MIRT1330211	hsa-miR-4782-5p	CLIP-seq
MIRT1330212	hsa-miR-516b	CLIP-seq
MIRT2458956	hsa-miR-542-3p	CLIP-seq
MIRT1330214	hsa-miR-875-3p	CLIP-seq
MIRT2618509	hsa-miR-4271	CLIP-seq
MIRT2618510	hsa-miR-4459	CLIP-seq
MIRT2618511	hsa-miR-4700-3p	CLIP-seq
MIRT2618512	hsa-miR-4725-3p	CLIP-seq
MIRT2618513	hsa-miR-4779	CLIP-seq
MIRT2618514	hsa-miR-5095	CLIP-seq
MIRT2618515	hsa-miR-600	CLIP-seq
MIRT2618509	hsa-miR-4271	CLIP-seq
MIRT2618510	hsa-miR-4459	CLIP-seq
MIRT2618511	hsa-miR-4700-3p	CLIP-seq
MIRT2618512	hsa-miR-4725-3p	CLIP-seq
MIRT2618513	hsa-miR-4779	CLIP-seq
MIRT2618514	hsa-miR-5095	CLIP-seq
MIRT2618515	hsa-miR-600	CLIP-seq

Show/Hide all(103)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IC	14500339
GO:0001518	Component	Voltage-gated sodium channel complex	IDA	19808477, 20042427, 21051419, 24567321
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0002027	Process	Regulation of heart rate	IEA
GO:0002027	Process	Regulation of heart rate	IMP	10471492, 18065446, 18616619, 21895525, 22529811, 23085483, 26279430, 26392562
GO:0003161	Process	Cardiac conduction system development	NAS	26786210
GO:0003231	Process	Cardiac ventricle development	ISS
GO:0003360	Process	Brainstem development	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	14500339, 17592081, 19074138, 19943616, 21895525, 22514276
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	23085483, 26279430, 26392562
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	16728661, 16930557, 17592081, 18184654, 18591664, 19943616, 22514276, 22705208, 26392562, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IPI	21167176
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	22529811
GO:0005886	Component	Plasma membrane	IDA	16728661, 17060380, 22529811
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	23085483, 26279430
GO:0005886	Component	Plasma membrane	TAS
GO:0005901	Component	Caveola	IDA	23420830
GO:0005901	Component	Caveola	TAS	17060380
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IDA	19074138, 22514276
GO:0006814	Process	Sodium ion transport	IEA
GO:0009986	Component	Cell surface	IDA	14500339, 19666841, 19943616
GO:0010765	Process	Positive regulation of sodium ion transport	IDA	14500339, 18065446, 19808477, 22529811
GO:0014704	Component	Intercalated disc	IDA	15579534
GO:0014704	Component	Intercalated disc	IEA
GO:0014704	Component	Intercalated disc	ISS	18184654
GO:0014894	Process	Response to denervation involved in regulation of muscle adaptation	ISS
GO:0016020	Component	Membrane	IDA	19074138
GO:0016020	Component	Membrane	IEA
GO:0016328	Component	Lateral plasma membrane	TAS	21164104
GO:0017134	Function	Fibroblast growth factor binding	IPI	12401812
GO:0019899	Function	Enzyme binding	IPI	19666841
GO:0019901	Function	Protein kinase binding	IPI	22514276
GO:0019904	Function	Protein domain specific binding	IPI	19943616
GO:0021537	Process	Telencephalon development	ISS
GO:0021549	Process	Cerebellum development	ISS
GO:0030018	Component	Z disc	IDA	19943616
GO:0030315	Component	T-tubule	IDA	15579534
GO:0030315	Component	T-tubule	IEA
GO:0030506	Function	Ankyrin binding	IPI	15579534
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	15217910
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	14500339, 19943616, 21051419
GO:0035725	Process	Sodium ion transmembrane transport	IMP	21895525, 23085483, 26279430, 26392562
GO:0042383	Component	Sarcolemma	IDA	17060380
GO:0042475	Process	Odontogenesis of dentin-containing tooth	ISS
GO:0044325	Function	Transmembrane transporter binding	IPI	20042427, 24998131
GO:0045760	Process	Positive regulation of action potential	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050679	Process	Positive regulation of epithelial cell proliferation	ISS
GO:0050998	Function	Nitric-oxide synthase binding	IPI	18591664
GO:0051899	Process	Membrane depolarization	IDA	14500339, 21051419, 21895525
GO:0055085	Process	Transmembrane transport	IEA
GO:0055117	Process	Regulation of cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	18065446, 21895525, 22529811
GO:0060307	Process	Regulation of ventricular cardiac muscle cell membrane repolarization	IMP	7889574
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IEA
GO:0060371	Process	Regulation of atrial cardiac muscle cell membrane depolarization	IMP	19167345, 22247482
GO:0060372	Process	Regulation of atrial cardiac muscle cell membrane repolarization	IMP	19167345
GO:0060373	Process	Regulation of ventricular cardiac muscle cell membrane depolarization	IMP	7889574, 18065446, 22529811
GO:0070161	Component	Anchoring junction	IEA
GO:0071277	Process	Cellular response to calcium ion	IDA	19074138
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	21895525
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IMP	22529811
GO:0086005	Process	Ventricular cardiac muscle cell action potential	IMP	22529811
GO:0086006	Function	Voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IDA	18065446, 19808477
GO:0086006	Function	Voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IEA
GO:0086006	Function	Voltage-gated sodium channel activity involved in cardiac muscle cell action potential	IMP	18616619, 21895525, 22529811
GO:0086010	Process	Membrane depolarization during action potential	IDA	14500339, 18065446, 22529811
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	IMP	21895525
GO:0086014	Process	Atrial cardiac muscle cell action potential	IMP	18065446
GO:0086015	Process	SA node cell action potential	IMP	18616619
GO:0086016	Process	AV node cell action potential	IEA
GO:0086016	Process	AV node cell action potential	IMP	18616619
GO:0086043	Process	Bundle of His cell action potential	IEA
GO:0086043	Process	Bundle of His cell action potential	IMP	18065446
GO:0086045	Process	Membrane depolarization during AV node cell action potential	IMP	18616619
GO:0086046	Process	Membrane depolarization during SA node cell action potential	IMP	18616619
GO:0086047	Process	Membrane depolarization during Purkinje myocyte cell action potential	IMP	22766342
GO:0086048	Process	Membrane depolarization during bundle of His cell action potential	IMP	18065446
GO:0086060	Function	Voltage-gated sodium channel activity involved in AV node cell action potential	IMP	18616619
GO:0086061	Function	Voltage-gated sodium channel activity involved in bundle of His cell action potential	IMP	18065446
GO:0086062	Function	Voltage-gated sodium channel activity involved in Purkinje myocyte action potential	IMP	22766342
GO:0086063	Function	Voltage-gated sodium channel activity involved in SA node cell action potential	IMP	18616619
GO:0086067	Process	AV node cell to bundle of His cell communication	IMP	10471492
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	21895525
GO:0097110	Function	Scaffold protein binding	IPI	17060380
GO:0098912	Process	Membrane depolarization during atrial cardiac muscle cell action potential	IMP	18065446
GO:1902305	Process	Regulation of sodium ion transmembrane transport	IDA	18591664

MIM	HGNC	e!Ensembl
600163	10593	ENSG00000183873

Protein

UniProt ID

Q14524

Protein name

Sodium channel protein type 5 subunit alpha (Sodium channel protein cardiac muscle subunit alpha) (Sodium channel protein type V subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.5) (hH1)

Protein function

Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent s

PDB

2KBI , 2L53 , 4DCK , 4DJC , 4JQ0 , 4OVN , 5DBR , 6LQA , 6MUD , 7DTC , 7L83 , 8VYJ , 8VYK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	130 → 423	Ion transport protein	Family
PF11933	Na_trans_cytopl	478 → 667	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	716 → 948	Ion transport protein	Family
PF06512	Na_trans_assoc	953 → 1200	Sodium ion transport-associated	Family
PF00520	Ion_trans	1204 → 1481	Ion transport protein	Family
PF00520	Ion_trans	1527 → 1783	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Found in jejunal circular smooth muscle cells (at protein level). Expressed in human atrial and ventricular cardiac muscle but not in adult skeletal muscle, brain, myometrium, liver, or spleen. Isoform 4 is expressed in brain. {ECO:000

Sequence

MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQA
SKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPI
RRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARG
FCLHAFTFLRDPWNWLDFSVIIMAYTTEFVDLGNVSALRTFRVLRALKTISVISGLKTIV
GALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKCVRNFTALNGTNGSVEADGLV
WESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDHGYTSFDSFAW
AFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQN
QATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRK
RMSSGTEECGEDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSE
ADFADDENSTAGESESHHTSLLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGV
VSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSEEPGGPQMLTSQAPCVDGFEEPGARQ
RALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECCPLWMSIKQGVKLVVMDPFTD
LTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIALDPYYYFQQG
WNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALG
NLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWI
ETMWDCMEVSGQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQ
LALARIQRGLRFVKRTTWDFCCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVP
PTRKETRFEEGEQPGQGTPGDPEPVCVPIAVAESDTDDQEEDEENSLGTEEESSKQQESQ
PVSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWKAEPQAPGCGETPEDSCSEGS
TADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYH
IVEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVA
YGFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGM
RVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNN
KSQCESLNLTGELYWTKVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQW
EYNLYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKK
LGSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICLNMVTMMVETDDQSPEKINIL
AKINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSDIIQKYFFSPT
LFRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFA
YVKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRG
DCGSPAVGILFFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEK
FDPEATQFIEYSVLSDFADALSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKR
VLGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKHEEVSAMVIQRAFRRHLLQRS
LKHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPLGPPSSSSISSTSFPPSYDSV
TRATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIV

Sequence length

2016

Interactions

View interactions

Show/Hide Causal Diseases (13)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Arrhythmogenic right ventricular cardiomyopathy	Familial isolated arrhythmogenic right ventricular dysplasia	rs137854613, rs1060499940	N/A
Atrial Fibrillation	atrial fibrillation	rs199473324	N/A
Brugada Syndrome	brugada syndrome 1, brugada syndrome, Brugada syndrome (shorter-than-normal QT interval)	rs749697698, rs199473565, rs1060501130, rs1553605932, rs199473096, rs199473083, rs1575751854, rs199473055, rs1204915217, rs794728843, rs137854620, rs1237724419, rs777689378, rs199473225, rs1207394743 View all (75 more)	N/A
cardiac arrhythmia	Cardiac arrhythmia	rs137854618, rs199473584, rs794728865, rs1366120635, rs199473083, rs1204915217, rs794728843, rs397514450, rs786204839, rs1553704183, rs886037903, rs137854604, rs137854612, rs199473168, rs794728924 View all (24 more)	N/A
Cardiomyopathy	Primary dilated cardiomyopathy, Primary familial dilated cardiomyopathy, left ventricular noncompaction cardiomyopathy	rs137854607, rs727504801, rs199473161, rs1417036453, rs45546039, rs869025523	N/A
Congenital Long QT Syndrome	congenital long qt syndrome	rs199473224, rs137854611, rs137854600, rs199473311, rs28937317, rs199473108, rs786204839, rs199473165, rs72549410, rs397514251, rs199473315, rs137854601, rs199473317, rs199473253, rs199473097 View all (12 more)	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 1E	rs397514450, rs137854607, rs45546039, rs137854618, rs199473161	N/A
Hypertrophic Cardiomyopathy	Primary familial hypertrophic cardiomyopathy	rs730880210	N/A
Long QT Syndrome	long qt syndrome 3, long qt syndrome, long qt syndrome 1	rs137854600, rs199473631, rs28937317, rs199473108, rs786204839, rs397514251, rs199473584, rs137854601, rs199473311, rs199473225, rs199473623, rs72549410, rs1553694247, rs1553698563, rs137854613 View all (11 more)	N/A
Sick Sinus Syndrome	sick sinus syndrome	rs869025519	N/A
Ventricular Fibrillation	Ventricular fibrillation, paroxysmal familial, type 1, ventricular fibrillation	rs137854604	N/A
ventricular tachycardia	Ventricular tachycardia	rs1450434935	N/A
Nonprogressive Heart Block	heart block, nonprogressive	rs397514448	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
autism	Autism	N/A	N/A	ClinVar
Catecholaminergic Polymorphic Ventricular Tachycardia	Catecholaminergic polymorphic ventricular tachycardia 1, catecholaminergic polymorphic ventricular tachycardia	N/A	N/A	ClinVar, GenCC
Conduction Disorder Of The Heart	conduction disorder of the heart	N/A	N/A	ClinVar
Congenital Heart Disease	congenital heart disease	N/A	N/A	ClinVar
Heart Block	Progressive familial heart block, progressive familial heart block, type 1A, progressive familial heart block	N/A	N/A	ClinVar, GenCC
Short QT Syndrome	short QT syndrome	N/A	N/A	GenCC
Torsades de Pointes	torsades de pointes	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (142)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abdominal Pain	Associate	19056759
Abnormalities Drug Induced	Associate	36516610
Acidosis	Associate	16453024, 21385947, 25923670, 27281089, 28373245, 34979239
Acute Febrile Encephalopathy	Associate	34649698
Andersen Syndrome	Associate	22064211, 24815523, 26109178
Aphakia congenital primary	Associate	21321465
Arrhythmias Cardiac	Associate	12471205, 14676229, 15316014, 15671429, 16453024, 16632547, 17185997, 17897635, 17993325, 18048769, 18060054, 18362431, 18408010, 18929244, 19302788 View all (82 more)
Arrhythmogenic Right Ventricular Dysplasia	Associate	23178689, 28069705, 35052356, 36469003
Asthma Chronic Obstructive Pulmonary Disease Overlap Syndrome	Associate	23955615, 31484910, 35052356, 37369559
Atherosclerosis	Associate	31422358
Atrial Fibrillation	Associate	15671429, 17185997, 18355654, 18378609, 18452873, 18929244, 19305639, 20062060, 20558140, 21596231, 22117993, 22818067, 22844511, 23463857, 24582607 View all (15 more)
Atrial Fibrillation	Inhibit	20488304, 36586483
Atrial Fibrillation	Stimulate	31610692
Atrial Flutter	Associate	24582607
Atrial Premature Complexes	Associate	22766342, 31506521, 40142204
Atrial Standstill	Associate	16188595, 28159958, 28584071, 34411358
Atrioventricular Block	Associate	16325048, 18848812, 19419784, 20025708, 23840796, 24227891, 24582607, 27681629, 34319147
Autosomal Recessive Primary Microcephaly	Associate	32048431
Bradycardia	Associate	12569159, 16325048, 16980337, 28734073
Brain Neoplasms	Associate	31320627
Breast Neoplasms	Associate	22678159, 26206582, 26718772, 31819138, 34313250, 35488278, 37052249
Brugada Syndrome	Associate	10940383, 11029409, 11123251, 11150514, 11410597, 12084774, 12106943, 12569159, 14967853, 15277732, 15520322, 15849444, 15851320, 15851440, 15863661 View all (179 more)
Brugada Syndrome	Stimulate	29959160
Brugada Syndrome	Inhibit	37226398
Bundle Branch Block	Associate	10940383, 15520322, 34411358
Calcinosis Cutis	Associate	34313250
Cardiac Conduction System Disease	Associate	12598077, 15863661, 16707561, 28159958, 29709101, 39551029
Cardiomyopathies	Associate	18048769, 20458009, 24815523, 26146998, 27554632, 27834932, 28069705, 28359509, 28815794, 29497013, 33213388, 35130036, 35762211, 37385135, 37651922
Cardiomyopathy Dilated	Associate	15671429, 18048769, 20201937, 21167004, 21596231, 22766342, 23349452, 24227891, 24300601, 25624448, 26458567, 27554632, 27586294, 28637969, 28701297 View all (11 more)
Cardiomyopathy Hypertrophic	Associate	27554632, 28916354
Cerebral Infarction	Associate	34446689, 40650005
Channelopathies	Associate	15863661, 22766342, 23692053, 24613995, 24762805, 26036855, 28637969, 29497013, 29544605, 31262209, 31677524, 33712541, 33712547, 33895855, 35093717, 35543671 View all (1 more)
Charcot Marie Tooth Disease Dominant Intermediate B	Associate	34034907
Charcot Marie Tooth disease Type 1C	Associate	24815523
Chest Pain	Associate	30968627
Ciuffo Syndrome	Associate	16707561
Coinfection	Associate	28734073, 32569350
Colorectal Neoplasms	Associate	20651255, 24852501, 26096612, 29122010
Conduct Disorder	Associate	17897635, 24300601, 27381756, 31118417, 33131149
Congenital heart block	Associate	12569159, 23840796, 25010007, 28018021
Coronary Artery Disease	Associate	34446689
COVID 19	Associate	34979239, 35934244
Deafness	Associate	26636822
Death	Associate	16707561, 22678159, 26146998, 28370132, 32421437, 33213816
Death Sudden	Associate	12471205, 15316014, 16707561, 17222736, 18452875, 18752973, 20400777, 21385947, 21859973, 22766342, 24140416, 25010007, 25691538, 26498160, 26846766 View all (13 more)
Death Sudden Cardiac	Associate	19377070, 20400777, 22370247, 22844511, 23347033, 23840796, 23853484, 24332150, 26146998, 26154754, 27012403, 28085969, 29709101, 30968627, 31257342 View all (18 more)
Delayed Cranial Ossification due to CBFB Haploinsufficiency	Associate	12598077
Diabetes Insipidus Neurogenic	Associate	30944319
Diarrhea	Associate	24613995
Disease	Associate	12569159, 15863661, 21596231, 27625342, 28739862, 37385135
Disease Progression	Associate	35052356
Early Onset Glaucoma	Associate	26820605, 34649698, 37216437
Electric Injuries	Associate	33221895, 35052356
Epilepsy	Associate	12569159, 18752973, 28087622, 30118344, 32449611, 33712547, 37995443
Epilepsy Idiopathic Generalized	Associate	18752973
Epileptic Syndromes	Associate	36430924
familial dilated cardiomyopathy	Associate	18048769, 19412328, 21167004, 29782370, 29871609, 34946838
Fetal akinesia syndrome X linked	Associate	31680123
Fetal Diseases	Associate	22064211
Fever	Associate	15890323, 16616735, 19632629, 19648062, 30968627, 34649698, 35934244, 36516610, 36881552
Foramen Ovale Patent	Associate	34446689
Genetic Diseases Inborn	Associate	12598077, 23347033, 26467377, 31371804, 36469003
Gitelman Syndrome	Associate	30305584
Heart Arrest	Associate	22370247, 27566755, 29325976, 33213388, 33213816, 33221895, 33480457, 33946750, 35231055, 36068982, 36435694, 36441561, 36946855, 39491571, 9753711
Heart Block	Associate	16707561, 28018021
Heart Defects Congenital	Associate	25010007
Heart Diseases	Associate	12569159, 14523039, 15671429, 16568155, 16707561, 18048769, 18378609, 18464934, 19719504, 20025708, 20102920, 22064211, 23840796, 24140416, 24300601 View all (27 more)
Heart Failure	Associate	15671429, 21498565, 21859973, 22939879, 24036084, 24815523, 28359509, 28916354, 29871609, 37385135, 40142204
Heart Failure	Stimulate	24703920
Heart Septal Defects Ventricular	Associate	19719504, 35331424
Hereditary bundle branch system defect	Associate	22247482, 30059973
Hydrops Fetalis	Associate	22064211
Hypertension	Associate	31486511
Hypokalemia	Associate	24332150
Hypomagnesemia primary	Associate	12084774, 12417563, 18060054, 23277474
Hypoxia	Inhibit	22939879
Hypoxia	Stimulate	24036084
Hypoxia	Associate	34979239
Incisional Hernia	Associate	32615940
Irritable Bowel Syndrome	Associate	19056759, 24613995, 29167113, 31262209, 34034907
Ischemia	Associate	17675083, 17993325, 19345130, 33414395
Keshan disease	Associate	25177937
Laminopathies	Associate	29759522, 31118417
Leprosy Tuberculoid	Associate	17399644
Long QT Syndrome	Associate	11150514, 11333173, 11410597, 12084774, 12181125, 12736279, 14676229, 15863661, 16254012, 16568155, 17198989, 17222736, 17597962, 17993325, 18052691 View all (90 more)
Long QT Syndrome	Stimulate	33213816
Long QT syndrome type 3	Associate	11150514, 11333173, 11410597, 12181125, 12849668, 15665061, 16022964, 16707561, 16980337, 18060054, 18408010, 18451998, 18662191, 18708744, 18929244 View all (46 more)
Lown Ganong Levine Syndrome	Associate	29709101
Lymphatic Metastasis	Associate	32400862, 35488278
Microvascular Angina	Associate	22766342, 24068186
Mitral Valve Prolapse	Associate	36430924
Muscular Dystrophy Duchenne	Inhibit	35762211
Muscular Dystrophy Duchenne	Associate	36469003
Myocardial Infarction	Associate	17675083, 19345130, 24445991, 28085969, 32330377
Myocardial Ischemia	Associate	24068186, 26146998
Myoclonus	Associate	16980337
Myotonic Dystrophy	Associate	24140416, 24943134
Neoplasm Metastasis	Stimulate	22678159
Neoplasm Metastasis	Associate	31139826, 35488278, 37052249
Neoplasms	Associate	20651255, 26718772, 29122010, 31819138, 32400862, 37052249
Neoplasms	Stimulate	31139826
Neoplastic Syndromes Hereditary	Associate	16980337, 23955615, 26965448
Opioid Induced Constipation	Associate	34034907
Paralysis Hyperkalemic Periodic	Associate	15851320, 18060054, 22064211, 24815523
Paroxysmal ventricular fibrillation	Associate	10940383, 11123251, 19345130, 27381756, 27625342, 29202755, 33221895, 37216437
Perinatal Death	Associate	32421437
Polymorphic catecholergic ventricular tachycardia	Associate	34557911
Post Acute COVID 19 Syndrome	Associate	16254012, 24388587, 27337590, 29071820, 31257342, 31865383, 8996300
Pulmonary Atelectasis	Associate	19706159, 22277643
Seizures	Associate	19863579, 26154754, 29672598, 29983085
Shock	Associate	21048329, 28584071
Short QT Syndrome 1	Associate	22490985
Sick Sinus Syndrome	Associate	16325048, 17897635, 18048769, 18451998, 20539757, 21596231, 23403368, 23955615, 24300601, 24582607, 24762805, 26111534, 26467377, 27381756, 27586294 View all (9 more)
Sick Sinus Syndrome 1 Autosomal Recessive	Associate	14523039, 17897635
Signs and Symptoms Digestive	Associate	18408010, 19038855, 19056759
Sinoatrial Block	Associate	34755423, 39551029
Sinus Arrest Cardiac	Associate	34755423
Sleep Disorders Circadian Rhythm	Associate	12569159, 24300601
Sleep Wake Disorders	Associate	27281089, 28373245
Spastic paraplegia 3 autosomal dominant	Associate	26803770
Squamous Cell Carcinoma of Head and Neck	Associate	31139826, 32400862
ST Elevation Myocardial Infarction	Associate	28085969
Storm Syndrome	Associate	17675083, 17993325, 19345130
Stroke	Associate	40650005
Sudden Infant Death	Associate	11123251, 15851440, 16453024, 18060054, 18452875, 19302788, 19666841, 21385947, 25923670, 28370132, 29544605, 30282806, 37995443
Sudden Unexpected Death in Epilepsy	Associate	18452875, 18752973, 20875080, 28704380, 34843966, 36326683
Sudden unexpected nocturnal death syndrome	Associate	15851440
Syncope	Associate	12471205, 12569159, 17399644, 19648062, 21109022, 22370247, 23347033, 23376825, 26154754, 27566755, 31486511, 34348284, 34755423, 36430924, 37547970, 39491571, 9753711 View all (2 more)
Syndrome	Associate	23376825
Systemic carnitine deficiency	Associate	24667783
Tachycardia	Associate	19419784, 28734073
Tachycardia Atrioventricular Nodal Reentry	Associate	29759522
Tachycardia Supraventricular	Associate	32615940
Tachycardia Ventricular	Associate	17675083, 17897635, 18848812, 19279983, 19632629, 19648062, 21596231, 26109178, 28159958, 28775062, 31506521, 32615940, 37547970, 39551029
Tachypnea	Associate	27281089
Torsades de Pointes	Associate	17993325, 19669871, 22338672, 29983085, 32421437
Trauma Nervous System	Associate	19632629
Turner Syndrome	Associate	23936059
Unconsciousness	Associate	26109178
Ventricular Fibrillation	Associate	12471205, 16616735, 17675083, 17993325, 18599870, 18848812, 19075524, 19345130, 19706159, 21048329, 24445991, 27012403, 27560382, 28085969, 28781330 View all (9 more)
Ventricular Flutter	Associate	28146213
Ventricular Premature Complexes	Associate	22766342, 26109178, 26965448, 29709244

SCN5A (sodium voltage-gated channel alpha subunit 5)