Gene: KCNQ3 (potassium voltage-gated channel subfamily Q member 3) Homo sapiens
Symbol: KCNQ3
Name: potassium voltage-gated channel subfamily Q member 3
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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BFNC2; DKFZp686C0248; EBN2; FLJ37386; FLJ38392; KQT-like 3; KV7.3; OTTHUMP00000174705; OTTHUMP00000227140; OTTHUMP00000227141; potassium channel subunit alpha KvLQT3; potassium channel, voltage gated KQT-like subfamily Q, member 3; potassium channel, voltage-gated, subfamily Q, member 3; potassium voltage-gated channel subfamily KQT member 3; potassium voltage-gated channel, KQT-like subfamily, member 3; voltage-gated potassium channel subunit Kv7.3
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh388132,120,858 - 132,480,757 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378133,133,105 - 133,493,004 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368133,210,438 - 133,562,186 (-)NCBINCBI36hg18NCBI36
Build 348133,210,437 - 133,562,186NCBI
Celera8129,316,946 - 129,668,720 (-)NCBI
Cytogenetic Map8q24.22NCBI
HuRef8128,450,644 - 128,810,822 (-)NCBIHuRef
CHM1_18133,173,913 - 133,533,807 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on KCNQ3
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 735595
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-02-05
Status: ACTIVE