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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	3785
Gene name Gene Name - the full gene name approved by the HGNC.	Potassium voltage-gated channel subfamily Q member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KCNQ2
Synonyms (NCBI Gene) Gene synonyms aliases	BFNC, DEE7, EBN, EBN1, ENB1, HNSPC, KCNA11, KV7.2
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q13.33
Summary Summary of gene provided in NCBI Entrez Gene.	The M channel is a slowly activating and deactivating potassium channel that plays a critical role in the regulation of neuronal excitability. The M channel is formed by the association of the protein encoded by this gene and a related protein encoded by

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1801545	G>A,C,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs28939683	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs28939684	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs74315390	C>G,T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs74315391	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs74315392	G>A,C,T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant, genic upstream transcript variant
rs117067974	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192185	T>C	Likely-pathogenic, pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs118192186	A>G,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs118192187	CACC>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192188	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192189	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192190	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant
rs118192197	CGGAGCGCAG>T	Pathogenic	Stop gained, coding sequence variant, inframe indel, genic upstream transcript variant
rs118192198	->A	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192199	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192200	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192201	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192202	T>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192203	G>A,T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
rs118192204	G>A,T	Likely-benign, pathogenic	Coding sequence variant, synonymous variant, missense variant, genic upstream transcript variant
rs118192205	G>A,C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192206	A>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192207	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192208	C>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs118192209	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192210	->AC	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192211	G>A,C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192212	AAG>-	Pathogenic, benign	Coding sequence variant, inframe deletion, genic upstream transcript variant
rs118192213	->C	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs118192214	G>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs118192215	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192216	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192217	A>C,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs118192221	A>C	Pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice donor variant, intron variant
rs118192222	TT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, genic upstream transcript variant
rs118192223	A>C	Pathogenic	Genic downstream transcript variant, splice donor variant, genic upstream transcript variant
rs118192224	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs118192225	C>G,T	Pathogenic	Genic downstream transcript variant, splice acceptor variant, intron variant
rs118192226	G>A,T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, synonymous variant
rs118192228	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs118192237	T>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, synonymous variant
rs118192238	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs118192239	G>A,T	Likely-benign, pathogenic	Genic downstream transcript variant, intron variant
rs118192240	A>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs118192241	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192242	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192243	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192244	A>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192245	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs118192246	->GGCCC	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs139164500	G>A,C,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, intron variant
rs148654588	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs201868078	G>A,C	Pathogenic, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, synonymous variant
rs369438374	G>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs374877247	G>A	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs397514582	C>A,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs552807375	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs559610397	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs570139975	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs587777219	G>A	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs587780365	A>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs587780367	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs587780369	C>A	Benign, likely-benign, pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs727503973	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs727503974	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs747050726	T>C,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs752073942	G>A,C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, synonymous variant
rs752280961	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs756007198	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, genic downstream transcript variant
rs756921902	T>C,G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs766755499	T>C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs770187706	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs770290221	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs771282785	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs772405187	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs775918190	G>A,C,T	Likely-benign, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, synonymous variant
rs777257591	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs777916008	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Intron variant, genic downstream transcript variant
rs794727134	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic downstream transcript variant
rs794727740	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794727741	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs794727813	C>A,G,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs794729197	->GGT	Pathogenic	Coding sequence variant, genic upstream transcript variant, inframe insertion
rs796052613	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, synonymous variant, stop gained
rs796052614	G>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs796052619	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052620	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052621	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052622	A>G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052623	G>A	Uncertain-significance, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052624	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052625	C>A,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052626	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052627	G>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052629	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052630	C>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052631	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052632	A>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052633	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant, stop gained
rs796052634	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs796052635	A>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052636	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052637	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052641	G>A	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052642	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052643	G>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs796052649	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs796052657	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant
rs796052658	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs796052664	GA>AGG	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs796052666	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs796052667	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs796052668	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, splice acceptor variant
rs796052670	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs797044935	T>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs797044938	C>A,G	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs797045638	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321706	A>C	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321707	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321708	A>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321709	C>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs864321711	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs868055567	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs878855236	CA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886039485	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs886041262	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs886041339	G>-,GG	Pathogenic	Coding sequence variant, genic upstream transcript variant, genic downstream transcript variant, frameshift variant
rs886041608	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886041890	->C	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs886042010	T>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs897976020	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057516082	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516083	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516084	CCG>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1057516085	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516086	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516087	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516088	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516089	T>C,G	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516090	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516091	T>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516092	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516093	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516094	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516095	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516096	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516097	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516098	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516099	C>T	Uncertain-significance, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516100	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057516102	C>G	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057516103	T>C,G	Pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant, missense variant
rs1057516113	T>-	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, frameshift variant, genic downstream transcript variant
rs1057516114	CT>-	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1057516115	C>T	Pathogenic	Splice donor variant, genic upstream transcript variant, genic downstream transcript variant
rs1057516116	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057516117	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057516118	C>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057516121	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs1057518068	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518489	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518492	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1057518555	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518619	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518662	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057518668	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1057519124	C>T	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1057519535	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057519536	A>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057523728	A>G,T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057524599	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057524860	T>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1060499544	CGG>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, inframe deletion
rs1060500602	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1060500603	->CTGGCGC	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064793317	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064793852	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064794001	C>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, genic downstream transcript variant
rs1064794063	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064794686	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1064795058	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064795489	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064796535	A>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064797284	C>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1085307905	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1085307920	C>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691356	A>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691658	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1131691734	G>C	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1131691936	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1178354607	C>T	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs1339542565	A>G	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs1555850151	->GCCCA	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850403	TCCTCGTGGTCCAC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850512	->C	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850590	G>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850842	->G	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555850868	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555851445	TCTCCACCTTCCCGAGCCGTCCCATCATGCT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555851513	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555851516	T>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555851550	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555853970	C>G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555853971	T>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1555853977	CTTTGA>-	Pathogenic	Inframe deletion, coding sequence variant, genic downstream transcript variant
rs1555853983	T>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1555854036	AAACTCGCAGGGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555854643	GGACCCCTTCCCCTTGG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555860693	A>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1555869700	G>A,C	Likely-pathogenic, pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555869758	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555869796	AGTGC>CCTGCTGCCGGG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555869803	G>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555870346	C>G,T	Likely-pathogenic, pathogenic	Genic upstream transcript variant, splice donor variant
rs1555870470	->G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555870506	T>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555870554	T>A,G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555871832	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555871853	C>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1555871862	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555871915	A>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555873656	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555873665	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555873683	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1555873813	->A	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555873823	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1555881741	G>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained
rs1555881809	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568864658	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1568899375	C>T	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1568925507	->TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC	Pathogenic	Genic upstream transcript variant, coding sequence variant, inframe insertion
rs1568925523	T>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1568927747	T>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568927820	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1568932480	->AG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1568940442	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1568986619	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1600714727	C>A	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1600751236	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1600755440	T>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1600766500	->TGTCA	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1600767259	->CCA	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, inframe insertion
rs1600785769	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1600786071	A>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1600886270	G>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1601542417	->G	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601542702	GG>T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601544177	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1601545088	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601548832	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601548976	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1601573302	TGGGGCTGTC>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT019416	hsa-miR-148b-3p	Microarray	17612493
MIRT020071	hsa-miR-375	Western blot;qRT-PCR;Microarray	20584986
MIRT030213	hsa-miR-26b-5p	Microarray	19088304
MIRT1082224	hsa-miR-3922-5p	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
REST	Repression	20926649
SP1	Activation	20926649

Show/Hide all(31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IBA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	9836639, 27564677, 28793216
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	27564677, 28793216, 33961781
GO:0005516	Function	Calmodulin binding	IDA	27564677
GO:0005886	Component	Plasma membrane	IDA	9836639, 10788442
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS	16525039
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	9425895
GO:0007399	Process	Nervous system development	TAS	9425895
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	9836639, 27564677, 28793216
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0022843	Function	Voltage-gated monoatomic cation channel activity	IDA	28793216
GO:0030506	Function	Ankyrin binding	IPI	16525039
GO:0033268	Component	Node of Ranvier	ISS	16525039
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0043194	Component	Axon initial segment	ISS	16525039
GO:0045202	Component	Synapse	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	9836639, 27564677
GO:0071805	Process	Potassium ion transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602235	6296	ENSG00000075043

Protein

UniProt ID

O43526

Protein name

Potassium voltage-gated channel subfamily KQT member 2 (KQT-like 2) (Neuroblastoma-specific potassium channel subunit alpha KvLQT2) (Voltage-gated potassium channel subunit Kv7.2)

Protein function

Pore-forming subunit of the voltage-gated potassium (Kv) M-channel which is responsible for the M-current, a key controller of neuronal excitability (PubMed:24277843, PubMed:28793216, PubMed:9836639). M-channel is composed of pore-forming subuni

PDB

5J03 , 6FEG , 6FEH , 7CR0 , 7CR1 , 7CR2 , 7CR3 , 7CR4 , 7CR7 , 8IJK , 8IZY , 8J00 , 8J01 , 8J02 , 8J03 , 8J04 , 8J05 , 8W4U , 8X43 , 8XO1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00520	Ion_trans	91 → 324	Ion transport protein	Family
PF03520	KCNQ_channel	466 → 651	KCNQ voltage-gated potassium channel	Family
PF16642	KCNQ2_u3	665 → 756		Disordered
PF11956	KCNQC3-Ank-G_bd	768 → 868	Ankyrin-G binding motif of KCNQ2-3	Family

Tissue specificity

TISSUE SPECIFICITY: In adult and fetal brain. Highly expressed in areas containing neuronal cell bodies, low in spinal cord and corpus callosum. Isoform 2 is preferentially expressed in differentiated neurons. Isoform 6 is prominent in fetal brain, undiff

Sequence

MVQKSRNGGVYPGPSGEKKLKVGFVGLDPGAPDSTRDGALLIAGSEAPKRGSILSKPRAG
GAGAGKPPKRNAFYRKLQNFLYNVLERPRGWAFIYHAYVFLLVFSCLVLSVFSTIKEYEK
SSEGALYILEIVTIVVFGVEYFVRIWAAGCCCRYRGWRGRLKFARKPFCVIDIMVLIASI
AVLAAGSQGNVFATSALRSLRFLQILRMIRMDRRGGTWKLLGSVVYAHSKELVTAWYIGF
LCLILASFLVYLAEKGENDHFDTYADALWWGLITLTTIGYGDKYPQTWNGRLLAATFTLI
GVSFFALPAGILGSGFALKVQEQHRQKHFEKRRNPAAGLIQSAWRFYATNLSRTDLHSTW
QYYERTVTVPMYSSQTQTYGASRLIPPLNQLELLRNLKSKSGLAFRKDPPPEPSPSKGSP
CRGPLCGCCPGRSSQKVSLKDRVFSSPRGVAAKGKGSPQAQTVRRSPSADQSLEDSPSKV
PKSWSFGDRSRARQAFRIKGAASRQNSEEASLPGEDIVDDKSCPCEFVTEDLTPGLKVSI
RAVCVMRFLVSKRKFKESLRPYDVMDVIEQYSAGHLDMLSRIKSLQSRVDQIVGRGPAIT
DKDRTKGPAEAELPEDPSMMGRLGKVEKQVLSMEKKLDFLVNIYMQRMGIPPTETEAYFG
AKEPEPAPPYHSPEDSREHVDRHGCIVKIVRSSSSTGQKNFSAPPAAPPVQCPPSTSWQP
QSHPRQGHGTSPVGDHGSLVRIPPPPAHERSLSAYGGGNRASMEFLRQEDTPGCRPPEGN
LRDSDTSISIPSVDHEELERSFSGFSISQSKENLDALNSCYAAVAPCAKVRPYIAEGESD
TDSDLCTPCGPPPRSATGEGPFGDVGWAGPRK

Sequence length

872

Interactions

View interactions

	KEGG		Reactome
	Cholinergic synapse		Voltage gated Potassium channels

Show/Hide Causal Diseases (9)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Benign Rolandic Epilepsy	benign rolandic epilepsy	rs118192212	N/A
Developmental And Epileptic Encephalopathy	Developmental and epileptic encephalopathy, 7, Developmental and epileptic encephalopathy, 1	rs1057516099, rs1057518489, rs587780365, rs118192205, rs118192200, rs796052657, rs796052665, rs118192199, rs794727813, rs775918190, rs727503974, rs74315391, rs118192245, rs1057516079, rs796052655 View all (74 more)	N/A
Epileptic Encephalopathy	early infantile epileptic encephalopathy with suppression bursts	rs796052670, rs1600755607, rs1555850590, rs796052640, rs1057520773, rs1060500603, rs2081190512, rs773171451, rs118192204, rs1555871832, rs1057516115, rs118192209, rs1064797284, rs1057516080, rs118192216 View all (135 more)	N/A
Mental retardation	intellectual disability	rs1057518772, rs796052626, rs796052618, rs587777219, rs2081190512	N/A
Seizure	seizures, benign familial neonatal, 1, Seizures, benign familial neonatal, 2	rs118192199, rs118192226, rs74315391, rs1057516089, rs864321712, rs796052623, rs118192245, rs796052663, rs118192205, rs118192235, rs118192234, rs1057516111, rs118192239, rs267607198, rs1601545088 View all (59 more)	N/A
seizure	Seizure	rs797044938, rs118192236, rs118192217, rs118192226, rs756921902, rs118192212, rs759584387, rs1131691936, rs794727740, rs1057517919, rs1600785769	N/A
congenital ichthyosis	Autosomal recessive congenital ichthyosis 10	rs864321707	N/A
Epileptic encephalopathy	epileptic encephalopathy	rs1600755440, rs1600786071, rs1555850842, rs118192235, rs1057519535, rs1057516094, rs1057519536, rs1057516099	N/A
West Syndrome	west syndrome	rs727503974	N/A

Show/Hide Unknown Diseases (4)

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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Epilepsy	benign familial infantile epilepsy	N/A	N/A	GenCC
Malignant migrating partial seizures of infancy	malignant migrating partial seizures of infancy	N/A	N/A	GenCC
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (80)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adrenal Hyperplasia Congenital	Associate	35177115
Alcohol Related Disorders	Associate	35780567
Alternating hemiplegia of childhood	Associate	35177115
Amyotrophic Lateral Sclerosis	Associate	34107252
Aphasia	Associate	38108335
Autism Spectrum Disorder	Associate	23849776, 30392976, 34948243, 35269516
Autistic Disorder	Associate	35780567, 37583270, 38108335
Blast Crisis	Associate	33557955
Body Dysmorphic Disorders	Associate	26993267
Borderline Personality Disorder	Associate	25612291
Bradycardia	Associate	24107868
Brain Diseases	Associate	23566103, 23621294, 23692823, 24107868, 25052858, 25524373, 25818041, 25880994, 26795593, 28133863, 28139826, 28733343, 28817111, 29314583, 31177578 View all (15 more)
Cardiomyopathies	Associate	33484326
Carpal Tunnel Syndrome	Associate	9579905
Cerebral Palsy	Associate	33557955
Channelopathies	Associate	28655139, 35642783
CHARGE Syndrome	Associate	23849776
Cognition Disorders	Associate	23692823, 29338302
Cognitive Dysfunction	Associate	33544076
Colorectal Neoplasms	Associate	40135319
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	31951342, 32168371, 33570938, 36849527
Convulsions benign familial neonatal dominant form	Associate	17675531, 20384724, 23360469, 23621294, 25052858, 25982755, 28038823, 28686619, 31199083, 31295832, 33784504, 34711204, 35780567, 39796146
Demyelinating Diseases	Associate	28139826
Developmental Disabilities	Associate	26993267, 28139826, 31056551, 32585800, 33557955, 35104249, 35642783, 35780567
Diabetes Mellitus	Associate	33484326
Disease	Associate	31295832
Down Syndrome	Associate	37583270
Dystonia	Associate	33557955
Early Onset Glaucoma	Associate	40180227
Encephalopathy Spastic Tetraparesis and Hypogonadism	Associate	28655139
Ependymoma	Associate	34474328
Epilepsies Myoclonic	Associate	29314583, 30558019
Epilepsies Partial	Associate	39796146
Epilepsy	Associate	10781098, 21937445, 23065794, 23566103, 23692823, 23849776, 24107868, 24371303, 25524373, 26795593, 26802095, 28038823, 28837158, 29190809, 30977854 View all (17 more)
Epilepsy Absence	Associate	35780567
Epilepsy Benign Neonatal	Associate	10781098, 15030501, 16686649, 17382933, 20119593, 20384724, 21937445, 23065794, 23360469, 23566103, 23692823, 25982755, 27888506, 29215089, 31199083 View all (6 more)
Epileptic Encephalopathy Early Infantile 3	Associate	23621294, 23692823, 31295832, 31418850, 33616268, 35104249, 35377796, 35856407, 36989566, 37071954, 37482918, 37659345, 39796146, 40292751
Epileptic Encephalopathy Early Infantile 3	Stimulate	36084525
Epileptic encephalopathy Lennox Gastaut type	Associate	28038823
Epileptic Syndromes	Associate	10781098, 38108335
Fabry Disease	Associate	40233852
Genetic Diseases Inborn	Associate	40292751
Hearing Loss Sensorineural	Associate	33484326
Heredodegenerative Disorders Nervous System	Associate	37878632
Hyperparathyroidism Neonatal Self Limited Primary With Hypercalciuria	Associate	36989566
Hypoventilation	Associate	28139826
Infant Newborn Diseases	Associate	24107868, 28139826, 28817111, 33544076, 38284441
Infantile Epileptic Dyskinetic Encephalopathy	Associate	23621294, 28387369, 30185235, 31295832, 33557955, 37593999
Intellectual Disability	Associate	20384724, 23566103, 23621294, 24107868, 28038823
Language Development Disorders	Associate	33616268, 35584591
Language Disorders	Associate	35780567
Learning Disabilities	Associate	32770121, 35269516, 35780567
Malformations of Cortical Development Group II	Associate	35584591
Mental Disorders	Associate	38108335
Mitochondrial Diseases	Associate	33484326
Mitochondrial encephalopathy	Associate	33484326
Motor Neuron Disease	Associate	33557955
Myoclonus	Associate	28139826
Myokymia	Associate	17382933, 23621294
Neoplastic Syndromes Hereditary	Associate	34020651
Nerve Degeneration	Associate	35257887
Nervous System Diseases	Associate	35584591
Neurodegenerative Diseases	Associate	28837158
Neurologic Manifestations	Associate	20805988, 27857203
Pain	Associate	32884139
Paralysis Hyperkalemic Periodic	Associate	35584591
Parasomnias	Associate	28139826
Pediatric Obesity	Associate	25612291
Perinatal Death	Associate	28655139
Peripheral Nervous System Diseases	Associate	33570938
Poult Enteritis Mortality Syndrome	Associate	28038823
Psychomotor Agitation	Associate	32884139
Psychomotor Disorders	Associate	24371303
Respiratory Insufficiency	Associate	28139826
Seizures	Associate	15030501, 23065794, 23566103, 23621294, 24107868, 24371303, 25982755, 28038823, 29314583, 31199083, 31618474, 31951342, 32863083, 33484326, 33544076 View all (7 more)
Spasm	Associate	28139826, 37583270
Spasms Infantile	Associate	23621294, 37583270
Sudden Unexpected Death in Epilepsy	Associate	24107868
Trigeminal Neuralgia	Associate	35780567
Vision Disorders	Associate	28655139

KCNQ2 (potassium voltage-gated channel subfamily Q member 2)