Potassium Channel, Voltage-Gated, KQT-Like Subfamily, Member 3

Alternative Names

KCNQ3
Potassium Channel, Voltage-Gated, Subfamily Q, Member 3

Length

360,238 bases

No. of Exons

No. of isoforms

Protein Name

Potassium voltage-gated channel subfamily KQT member 3

Molecular Mass

96742 Da

Amino Acid Count

872

Genomic Location

chr8:132,120,857-132,481,094

Gene Map Locus

8q24.22

Description

This gene encodes a protein that functions in the regulation of neuronal excitability. The encoded protein forms an M-channel by associating with the products of the related KCNQ2 or KCNQ5 genes, which both encode integral membrane proteins. M-channel currents are inhibited by M1 muscarinic acetylcholine receptors and are activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 2 (BFNC2), also known as epilepsy, benign neonatal type 2 (EBN2). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2014]

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_004519.4:c.1994C>T	United Arab Emirates	NC_000008.11:g.132129887G>A	Benign, Likely Benign, Uncertain Significance	Benign		NG_008854.2:g.355871C>T; NM_004519.4:c.1994C>T; NP_004510.1:p.Ser665Leu	147173555	194513
NM_004519.4:c.688C>T	Kuwait	NC_000008.11:g.132180246G>A	Likely Pathogenic, Pathogenic	Likely Pathogenic, Pathogenic	Seizures, Benign Familial Neonatal, 2	NG_008854.2:g.305512C>T; NM_004519.4:c.688C>T; NP_004510.1:p.Arg230Cys	796052676	205963

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External Links

https://medlineplus.gov/genetics/gene/kcnq3/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=kcnq3

Contributors

Sami Bizzari: 21.02.2022

Edit History

Sami Bizzari: 21.02.2022

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