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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6326
Gene name Gene Name - the full gene name approved by the HGNC.	Sodium voltage-gated channel alpha subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SCN2A
Synonyms (NCBI Gene) Gene synonyms aliases	BFIC3, BFIS3, BFNIS, DEE11, EA9, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium

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SNP ID	Visualize variation	Clinical significance	Consequence
rs6706924	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs121917748	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121917749	C>T	Pathogenic	Coding sequence variant, missense variant
rs121917750	C>G	Pathogenic	Coding sequence variant, missense variant
rs121917751	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121917752	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant, intron variant, genic upstream transcript variant
rs121917753	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121917754	C>A	Pathogenic	Coding sequence variant, missense variant
rs138497939	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs139815570	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs141153302	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs142128956	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs143765389	A>G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs144325450	C>A,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs144814658	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs147084515	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147522594	G>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149534277	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, synonymous variant
rs149859004	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs181327458	C>A,T	Pathogenic	Synonymous variant, genic upstream transcript variant, coding sequence variant, stop gained
rs184769423	A>C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs185590667	T>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs187731029	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs190111194	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs191955969	C>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200138205	G>A,C	Pathogenic, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs200603552	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs367546924	C>A	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs368887417	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs373913233	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs377063535	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906683	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, genic upstream transcript variant, stop gained
rs387906684	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs387906685	A>C,G	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs387906686	C>A,T	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs387906687	A>G	Pathogenic	Initiator codon variant, genic upstream transcript variant, coding sequence variant, missense variant
rs529842407	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs558887330	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant
rs561375550	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs571408286	C>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587780450	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs746163041	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs752845880	T>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs755003900	G>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs767592553	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs786205635	TACT>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs794727003	C>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs794727152	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs794727444	G>A,T	Pathogenic-likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053113	G>T	Pathogenic	Splice donor variant
rs796053114	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053115	G>A	Pathogenic	Coding sequence variant, missense variant
rs796053116	T>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053118	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053119	G>C	Pathogenic	Coding sequence variant, missense variant
rs796053120	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053122	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs796053124	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053126	G>A,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs796053128	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs796053129	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053130	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs796053131	T>A	Pathogenic	Coding sequence variant, missense variant
rs796053132	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053133	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053134	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs796053135	A>G	Pathogenic	Coding sequence variant, missense variant
rs796053136	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053137	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs796053138	C>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Stop gained, coding sequence variant, missense variant
rs796053140	A>G	Likely-pathogenic	Intron variant
rs796053143	T>A,G	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs796053144	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053149	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053150	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053151	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053152	T>C	Pathogenic	Coding sequence variant, missense variant
rs796053154	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053155	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053156	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs796053157	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs796053160	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs796053162	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs796053166	C>A,G,T	Pathogenic	Stop gained, coding sequence variant, missense variant, synonymous variant
rs796053169	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs796053171	G>A,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs796053175	G>C,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053178	C>G,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs796053180	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053181	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053182	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053183	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs796053184	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs796053192	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs796053193	ATT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs796053194	GAA>-	Pathogenic	Coding sequence variant, inframe deletion
rs796053196	A>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs796053197	C>T	Pathogenic	Coding sequence variant, missense variant
rs796053198	C>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant
rs796053203	T>G	Pathogenic-likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, coding sequence variant, intron variant, missense variant
rs796053206	GC>TT	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs797045942	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs797045943	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs869312663	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs869312664	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs879253767	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs886039461	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs886039648	G>A	Pathogenic	Splice donor variant
rs886039710	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs886041259	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs886043250	A>G,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1057517853	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517854	T>C	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1057518048	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518111	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518117	G>A,C,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant
rs1057518373	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518658	AC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519010	GGAGTGAATCTCT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057519523	A>G	Pathogenic	Missense variant, coding sequence variant
rs1057519524	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519525	T>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1057519526	C>T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057519527	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519528	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1057519617	G>T	Pathogenic	Coding sequence variant, stop gained
rs1057520413	G>A	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057520844	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057521223	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1057521747	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs1057523696	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523734	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057523786	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524059	G>T	Pathogenic	Missense variant, coding sequence variant
rs1057524164	A>G,T	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1057524573	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1060503101	C>T	Pathogenic	Missense variant, coding sequence variant
rs1060503102	C>T	Pathogenic	Coding sequence variant, stop gained
rs1064793850	TGGCAATTCT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064794005	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs1064794721	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1064794730	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1064795014	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064795018	C>A	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1064795159	C>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1064795576	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1064795832	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796123	AG>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1064796203	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1064796620	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796691	T>G	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1085307500	C>T	Pathogenic	Coding sequence variant, stop gained
rs1085307541	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307542	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307898	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691361	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1131691466	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131691927	G>C	Likely-pathogenic	Intron variant, genic upstream transcript variant, 5 prime UTR variant, missense variant, coding sequence variant
rs1135401811	AA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1177406324	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1287017958	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1553461660	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553461662	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553462134	C>A,G,T	Uncertain-significance, likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs1553462224	C>-	Pathogenic	Stop gained, coding sequence variant
rs1553462227	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553463032	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553463074	AC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553463096	G>-	Not-provided, pathogenic	Frameshift variant, coding sequence variant
rs1553463119	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1553463464	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553463513	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553463516	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553463594	A>T	Pathogenic	Coding sequence variant, missense variant
rs1553463602	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553463718	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1553463775	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553463850	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553564139	A>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, initiator codon variant, missense variant
rs1553564144	C>G	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1553564400	T>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs1553567304	A>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, stop gained, coding sequence variant
rs1553567347	C>T	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1553567473	A>G	Pathogenic-likely-pathogenic	Genic upstream transcript variant, missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553567561	T>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1553567864	C>T	Pathogenic	5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs1553568045	C>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553568927	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553568999	G>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1553569054	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1553569662	AGAA>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553569739	CA>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1553571901	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1553574522	T>C	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1553574729	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553574733	C>T	Pathogenic	Stop gained, coding sequence variant
rs1553578503	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553579225	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1553579282	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553579305	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553579488	G>A	Pathogenic	Coding sequence variant, missense variant
rs1553579500	->A	Pathogenic	Frameshift variant, coding sequence variant
rs1553583550	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1553583659	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553583712	GA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553584053	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553590192	CT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553593030	G>T	Pathogenic	Stop gained, coding sequence variant
rs1553593578	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553593589	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553593676	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1558885489	C>G	Pathogenic	Coding sequence variant, missense variant
rs1558885691	GTTT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1558886168	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1559352550	A>G	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, genic upstream transcript variant, missense variant
rs1559353540	AGGATAAAAG>-	Pathogenic	Coding sequence variant, splice donor variant, genic upstream transcript variant
rs1559376694	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574525321	A>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, 5 prime UTR variant
rs1574554892	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, frameshift variant
rs1574556643	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, missense variant, intron variant
rs1574567728	G>A,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs1574571769	A>G	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1574611024	A>G	Pathogenic	Coding sequence variant, missense variant
rs1574636716	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1574641366	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1574641522	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574641605	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574691534	AACAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1574697769	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574716488	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1574716524	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1574731232	T>G	Pathogenic	Stop gained, coding sequence variant
rs1574731380	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574746733	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574746759	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1574746935	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1574751309	TA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1574752700	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1574754680	C>G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all(60)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029544	hsa-miR-26b-5p	Microarray	19088304
MIRT1329791	hsa-miR-3545-3p	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT1329793	hsa-miR-4680-5p	CLIP-seq
MIRT1329794	hsa-miR-1205	CLIP-seq
MIRT1329795	hsa-miR-1286	CLIP-seq
MIRT1329796	hsa-miR-200b	CLIP-seq
MIRT1329797	hsa-miR-200c	CLIP-seq
MIRT1329798	hsa-miR-217	CLIP-seq
MIRT1329799	hsa-miR-30a	CLIP-seq
MIRT1329800	hsa-miR-30b	CLIP-seq
MIRT1329801	hsa-miR-30c	CLIP-seq
MIRT1329802	hsa-miR-30d	CLIP-seq
MIRT1329803	hsa-miR-30e	CLIP-seq
MIRT1329804	hsa-miR-3163	CLIP-seq
MIRT1329805	hsa-miR-3646	CLIP-seq
MIRT1329806	hsa-miR-3662	CLIP-seq
MIRT1329807	hsa-miR-369-3p	CLIP-seq
MIRT1329808	hsa-miR-374a	CLIP-seq
MIRT1329809	hsa-miR-374b	CLIP-seq
MIRT1329810	hsa-miR-4275	CLIP-seq
MIRT1329811	hsa-miR-429	CLIP-seq
MIRT1329812	hsa-miR-4418	CLIP-seq
MIRT1329813	hsa-miR-4426	CLIP-seq
MIRT1329814	hsa-miR-4647	CLIP-seq
MIRT1329815	hsa-miR-4662b	CLIP-seq
MIRT1329816	hsa-miR-4722-5p	CLIP-seq
MIRT1329817	hsa-miR-499-3p	CLIP-seq
MIRT1329818	hsa-miR-499a-3p	CLIP-seq
MIRT1329819	hsa-miR-509-3-5p	CLIP-seq
MIRT1329820	hsa-miR-509-5p	CLIP-seq
MIRT1329821	hsa-miR-633	CLIP-seq
MIRT2097751	hsa-miR-1271	CLIP-seq
MIRT2097752	hsa-miR-132	CLIP-seq
MIRT2097753	hsa-miR-136	CLIP-seq
MIRT2097754	hsa-miR-182	CLIP-seq
MIRT2097755	hsa-miR-212	CLIP-seq
MIRT2097756	hsa-miR-223	CLIP-seq
MIRT2097757	hsa-miR-3684	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT2097758	hsa-miR-4642	CLIP-seq
MIRT2097759	hsa-miR-96	CLIP-seq
MIRT2097751	hsa-miR-1271	CLIP-seq
MIRT2097752	hsa-miR-132	CLIP-seq
MIRT2097754	hsa-miR-182	CLIP-seq
MIRT2097755	hsa-miR-212	CLIP-seq
MIRT2097756	hsa-miR-223	CLIP-seq
MIRT2097757	hsa-miR-3684	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT2097758	hsa-miR-4642	CLIP-seq
MIRT2097759	hsa-miR-96	CLIP-seq
MIRT2097751	hsa-miR-1271	CLIP-seq
MIRT2097752	hsa-miR-132	CLIP-seq
MIRT2097754	hsa-miR-182	CLIP-seq
MIRT2097755	hsa-miR-212	CLIP-seq
MIRT2097756	hsa-miR-223	CLIP-seq
MIRT2097757	hsa-miR-3684	CLIP-seq
MIRT1329792	hsa-miR-4328	CLIP-seq
MIRT2097758	hsa-miR-4642	CLIP-seq
MIRT2097759	hsa-miR-96	CLIP-seq

Show/Hide all(37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	IBA
GO:0001518	Component	Voltage-gated sodium channel complex	IEA
GO:0001518	Component	Voltage-gated sodium channel complex	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	1325650
GO:0005248	Function	Voltage-gated sodium channel activity	IEA
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	17021166, 28256214, 29844171
GO:0005248	Function	Voltage-gated sodium channel activity	ISS
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	36950384
GO:0005516	Function	Calmodulin binding	IMP	25232683
GO:0005886	Component	Plasma membrane	IDA	1325650, 17021166, 29844171
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	ISS
GO:0007399	Process	Nervous system development	ISS
GO:0007613	Process	Memory	ISS
GO:0008627	Process	Intrinsic apoptotic signaling pathway in response to osmotic stress	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0019228	Process	Neuronal action potential	IMP	17021166, 29844171
GO:0019228	Process	Neuronal action potential	ISS
GO:0030424	Component	Axon	TAS	16652168
GO:0033268	Component	Node of Ranvier	ISS
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:0042552	Process	Myelination	ISS
GO:0051402	Process	Neuron apoptotic process	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0071456	Process	Cellular response to hypoxia	ISS
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IBA

MIM	HGNC	e!Ensembl
182390	10588	ENSG00000136531

Protein

UniProt ID

Q99250

Protein name

Sodium channel protein type 2 subunit alpha (HBSC II) (Sodium channel protein brain II subunit alpha) (Sodium channel protein type II subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.2)

Protein function

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) io

PDB

2KAV , 4JPZ , 4RLY , 6BUT , 6J8E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	128 → 436	Ion transport protein	Family
PF11933	Na_trans_cytopl	505 → 709	Cytoplasmic domain of voltage-gated Na+ ion channel	Family
PF00520	Ion_trans	758 → 993	Ion transport protein	Family
PF06512	Na_trans_assoc	997 → 1203	Sodium ion transport-associated	Family
PF00520	Ion_trans	1207 → 1483	Ion transport protein	Family
PF00520	Ion_trans	1530 → 1787	Ion transport protein	Family

Sequence

MAQSVLVPPGPDSFRFFTRESLAAIEQRIAEEKAKRPKQERKDEDDENGPKPNSDLEAGK
SLPFIYGDIPPEMVSVPLEDLDPYYINKKTFIVLNKGKAISRFSATPALYILTPFNPIRK
LAIKILVHSLFNMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKILARGFC
LEDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGA
LIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCLQWPPDNSSFEINITSFFNNSL
DGNGTTFNRTVSIFNWDEYIEDKSHFYFLEGQNDALLCGNSSDAGQCPEGYICVKAGRNP
NYGYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLI
LAVVAMAYEEQNQATLEEAEQKEAEFQQMLEQLKKQQEEAQAAAAAASAESRDFSGAGGI
GVFSESSSVASKLSSKSEKELKNRRKKKKQKEQSGEEEKNDRVRKSESEDSIRRKGFRFS
LEGSRLTYEKRFSSPHQSLLSIRGSLFSPRRNSRASLFSFRGRAKDIGSENDFADDEHST
FEDNDSRRDSLFVPHRHGERRHSNVSQASRASRVLPILPMNGKMHSAVDCNGVVSLVGGP
STLTSAGQLLPEGTTTETEIRKRRSSSYHVSMDLLEDPTSRQRAMSIASILTNTMEELEE
SRQKCPPCWYKFANMCLIWDCCKPWLKVKHLVNLVVMDPFVDLAITICIVLNTLFMAMEH
YPMTEQFSSVLSVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIVSLSLMELGL
ANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGM
QLFGKSYKECVCKISNDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQTMCL
TVFMMVMVIGNLVVLNLFLALLLSSFSSDNLAATDDDNEMNNLQIAVGRMQKGIDFVKRK
IREFIQKAFVRKQKALDEIKPLEDLNNKKDSCISNHTTIEIGKDLNYLKDGNGTTSGIGS
SVEKYVVDESDYMSFINNPSLTVTVPIAVGESDFENLNTEEFSSESDMEESKEKLNATSS
SEGSTVDIGAPAEGEQPEVEPEESLEPEACFTEDCVRKFKCCQISIEEGKGKLWWNLRKT
CYKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRKTIKTMLEYADKVFTYIFILEMLLK
WVAYGFQVYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRALRPLRALSRF
EGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINYTTGEMFDVSVV
NNYSECKALIESNQTARWKNVKVNFDNVGLGYLSLLQVATFKGWMDIMYAAVDSRNVELQ
PKYEDNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNA
MKKLGSKKPQKPIPRPANKFQGMVFDFVTKQVFDISIMILICLNMVTMMVETDDQSQEMT
NILYWINLVFIVLFTGECVLKLISLRYYYFTIGWNIFDFVVVILSIVGMFLAELIEKYFV
SPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYAIFGMS
NFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSGPPDCDPDKDHPGS
SVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPLSEDDFEMFYE
VWEKFDPDATQFIEFAKLSDFADALDPPLLIAKPNKVQLIAMDLPMVSGDRIHCLDILFA
FTKRVLGESGEMDALRIQMEERFMASNPSKVSYEPITTTLKRKQEEVSAIIIQRAYRRYL
LKQKVKKVSSIYKKDKGKECDGTPIKEDTLIDKLNENSTPEKTDMTPSTTSPPSYDSVTK
PEKEKFEKDKSEKEDKGKDIRESKK

Sequence length

2005

Interactions

View interactions

	KEGG		Reactome
	Taste transduction		Phase 0 - rapid depolarisation

Show/Hide Causal Diseases (16)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 11, unclassified developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy, 30	rs796053180, rs1553461660, rs121917752, rs746163041, rs869312664, rs1574746759, rs1553567473, rs1574567728, rs1057519526, rs796053155, rs190111194, rs879253767, rs1553569754, rs1574716488, rs1553564144 View all (40 more)	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs1057519526, rs387906686, rs1057519527, rs1057519524, rs794727444, rs1057519528, rs796053130, rs1574525321	N/A
Epileptic Encephalopathy	early infantile epileptic encephalopathy with suppression bursts	rs796053181, rs1574716488, rs796053138, rs1553590192, rs121917753, rs1057520413	N/A
Episodic Ataxia	Episodic ataxia, type 9	rs1553579488, rs1553463427, rs1553578503, rs387906683, rs796053166, rs121917753, rs1702008435, rs387906686, rs1574571769	N/A
Mental retardation	Intellectual disability, autosomal dominant, intellectual disability	rs1057519617, rs1553567864	N/A
Seizure	seizures, benign familial infantile, 3	rs1553463119, rs1574641605, rs121917752, rs1574697769, rs1574716524, rs1060503101, rs387906687, rs1574746733, rs587780450, rs1574641522, rs1574746935, rs1553579225, rs1574752700, rs1574554892, rs796053166 View all (10 more)	N/A
seizure	Seizure	rs121917752, rs1060503101, rs797045942, rs794727444	N/A
autism	Autism	rs1057518658, rs181327458	N/A
autism spectrum disorder	Autism spectrum disorder	rs1553578503	N/A
Autism Spectrum Disorder	Autism Spectrum Disorder with Intellectual Disability	rs1135401811	N/A
Dystonia	dystonia 12	rs1057518117	N/A
Epilepsy	benign familial infantile epilepsy, Epilepsy of infancy with migrating focal seizures, epilepsy	rs121917752, rs796053126, rs1553567864	N/A
focal epilepsy	Focal epilepsy	rs1057519525	N/A
infantile spasms	Infantile spasms	rs1553579488, rs387906686, rs1553567561	N/A
malignant migrating partial seizures of infancy	Malignant migrating partial seizures of infancy	rs1057519523, rs1574556643	N/A
West Syndrome	west syndrome	rs796053134, rs796053162, rs1057517854, rs794727152	N/A

Show/Hide Unknown Diseases (7)

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.
Bipolar Disorder	Bipolar disorder	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Febrile seizures	Febrile seizure (within the age range of 3 months to 6 years)	N/A	N/A	ClinVar
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC
Parkinson Disease	Parkinson's disease	N/A	N/A	GWAS
Pyridoxine-Dependent Epilepsy	pyridoxine-dependent epilepsy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (96)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Abnormalities Drug Induced	Associate	29448117
alpha Thalassemia	Associate	3676514
Alternating hemiplegia of childhood	Associate	38097767
Anemia Sickle Cell	Associate	941904
Arrhythmias Cardiac	Associate	28087622
Attention Deficit Disorder with Hyperactivity	Associate	37597357
Autism Spectrum Disorder	Associate	23849776, 24650168, 26637798, 27824329, 27956748, 28256214, 28714951, 29929112, 30071822, 30392976, 30813884, 31272037, 32918531, 33460646, 34894057 View all (6 more)
Autism Spectrum Disorder	Stimulate	32193494
Autistic Disorder	Associate	15316014, 26196440, 26555645, 26749308, 27824329, 29929112, 30698461, 31272037, 31437449, 32918531, 33731876, 35205412, 35637276, 35982159, 37010102, 38148154, 38564633, 39596607 View all (3 more)
beta Thalassemia	Associate	10861818, 19298727, 32172616, 6655669
Bipolar Disorder	Associate	35260864, 40562893
Brain Diseases	Associate	19786696, 23566103, 23758435, 24710820, 25818041, 26291284, 28518218, 28817111, 29186148, 29466837, 29844171, 29929112, 30813884, 31995133, 32400968 View all (5 more)
Brain Neoplasms	Associate	31320627
CHARGE Syndrome	Associate	23849776
Chorea	Associate	24710820
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	32400968
Colitis	Associate	25078150
Colorectal Neoplasms	Associate	25078150
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	29929112
Convulsions benign familial neonatal dominant form	Associate	20384724
Death	Associate	35715422, 38255008
Death Sudden	Associate	27574005
Delta Beta Thalassemia	Associate	11493481
Depressive Disorder Major	Associate	36698099
Developmental Disabilities	Associate	26993267, 28256214, 28714951, 28867142, 29929112, 31056551, 33460646, 33779092, 34287911, 35417276, 35803560, 37578743, 38148154
Diabetes Mellitus	Associate	19687586
Diabetes Mellitus Type 2	Associate	31127053
Disease	Associate	32845893, 33818783
Disorders of Excessive Somnolence	Associate	24710820
Drug Resistant Epilepsy	Associate	15028761, 19270815, 19694741, 19786696, 29448117, 30813219, 35136380, 40462216
Ear Diseases	Associate	38255008
Early Onset Glaucoma	Associate	38255008
Embryo Loss	Associate	32845893
Ependymoma	Associate	34474328
Epilepsies Myoclonic	Associate	15028761, 21204806, 29314583, 31439038
Epilepsies Partial	Associate	19786696, 24157691
Epilepsy	Associate	18242854, 19694741, 19786696, 21893419, 23550958, 23566103, 23849776, 24157691, 24220630, 24659627, 26291284, 26555645, 28087622, 28837158, 29056246 View all (28 more)
Epilepsy Absence	Associate	28518218
Epilepsy Benign Neonatal	Associate	14738422, 16417554, 17386050, 18479388, 20384724, 21204806, 21893419, 23360469, 23566103, 23758435, 24659627, 24710820, 25982755, 29215089, 29844171, 30813219, 30813884, 32750235 View all (3 more)
Epilepsy Benign Neonatal 3	Associate	16417554, 16822249
Epilepsy Generalized	Associate	15028761
Epilepsy Idiopathic Generalized	Associate	15028761, 20041941
Epilepsy Temporal Lobe	Associate	24220630
Epileptic Encephalopathy Early Infantile 3	Associate	29844171, 30813884, 31995133, 32400968, 33779092, 34287911, 35803560, 35886038, 36029553, 36361691, 36571524, 37597357, 38148154, 38479087, 39285222
Epileptic Syndromes	Associate	19129176, 23550958
Episodic Ataxia	Associate	30314295, 34894057
Episodic Ataxia Type 2	Associate	30314295
Fetal Diseases	Associate	38255008
Fetal Growth Retardation	Associate	38255008
Fever	Associate	35022648
Generalized Epilepsy With Febrile Seizures Plus Type 1	Associate	10486327, 24659627, 35886038
Genetic Diseases Inborn	Associate	22581936
Glucose Intolerance	Associate	23827426
Hemianopsia	Associate	23827426
Hippocampal Sclerosis	Associate	23827426
Hydrocephalus	Associate	38255008
Hypersensitivity Delayed	Associate	35417276
Hypotension	Associate	35260864
Infant Newborn Diseases	Associate	28817111
Infantile Epileptic Dyskinetic Encephalopathy	Associate	23550958, 30185235, 30813219, 31204721, 40462216
Intellectual Disability	Associate	20384724, 23566103, 26196440, 30813884, 31437449, 32400968, 33176815, 33278787, 34247411, 34894057, 35637276, 37010102, 37578743
Kidney Neoplasms	Associate	27802793
Leukodystrophy Metachromatic	Associate	35803560
Lung Diseases	Associate	38255008
Malformations of Cortical Development	Associate	24220630
Malformations of Cortical Development Group II	Associate	31204721
Mental Disorders	Associate	15028761, 24650168, 25849321, 26555645, 33731876
Metabolic Syndrome	Associate	39285222
Microphthalmia Syndromic 10	Associate	24710820
Migraine Familial Basilar	Associate	33460646
Movement Disorders	Associate	24710820
Multiple Sclerosis	Associate	15148385
Myoclonic Cerebellar Dyssynergia	Associate	23550958
Myoclonus	Associate	30813219
Neoplasms	Associate	27422711
Nerve Degeneration	Associate	23758435, 24157691
Neurodegenerative Diseases	Associate	28837158
Ovarian Neoplasms	Associate	15771624
Overweight	Associate	30896644
Pathological Conditions Anatomical	Associate	33818783
Peripheral Nervous System Diseases	Associate	31127053
Polyhydramnios	Associate	38255008
Polymicrogyria	Associate	29466837, 37486637
Progressive hearing loss stapes fixation	Associate	33176815
Q Fever	Associate	14693843
Sanderson Fraser syndrome	Associate	38255008
Schizophrenia	Associate	24718902, 26555645, 34894057
Seizures	Associate	16822249, 17386050, 23550958, 23566103, 23758435, 25982755, 26291284, 28256214, 29314583, 29844171, 30071822, 30314295, 30813219, 30813884, 31618474 View all (10 more)
Seizures Febrile	Associate	12086636, 15028761, 20041941, 35022648, 39596607
Signs and Symptoms Digestive	Associate	26291284
Spasm	Associate	33731876, 37583270
Spasms Infantile	Associate	19786696, 23827426, 29844171, 29929112, 30813219, 36279597, 37583270, 38148154
Status Epilepticus	Associate	33278787
Syndrome	Associate	35803560
Talipes	Associate	38255008
Tourette Syndrome	Associate	30071822

SCN2A (sodium voltage-gated channel alpha subunit 2)