Gene: KCNQ2 (potassium voltage-gated channel subfamily Q member 2) Homo sapiens
Symbol: KCNQ2
Name: potassium voltage-gated channel subfamily Q member 2
Description: 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 the KCNQ3 gene, both integral membrane proteins. M channel currents are inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. Defects in this gene are a cause of benign familial neonatal convulsions type 1 (BFNC), also known as epilepsy, benign neonatal type 1 (EBN1). At least five transcript variants encoding five different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BFNC; BFNS1; EBN; EBN1; EIEE7; ENB1; HNSPC; KCNA11; KQT-like 2; KV7.2; KVEBN1; neuroblastoma-specific potassium channel protein; neuroblastoma-specific potassium channel subunit alpha KvLQT2; OTTHUMP00000031681; OTTHUMP00000031682; OTTHUMP00000031683; OTTHUMP00000031684; OTTHUMP00000031685; OTTHUMP00000031686; OTTHUMP00000031687; OTTHUMP00000031689; OTTHUMP00000214671; potassium channel, voltage gated KQT-like subfamily Q, member 2; potassium voltage-gated channel subfamily KQT member 2; potassium voltage-gated channel, KQT-like subfamily, member 2; voltage-gated potassium channel subunit Kv7.2
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh382063,400,208 - 63,472,677 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372062,031,561 - 62,103,993 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362061,507,986 - 61,574,437 (-)NCBINCBI36hg18NCBI36
Build 342061,535,475 - 61,574,437NCBI
Celera2058,714,783 - 58,784,129 (-)NCBI
Cytogenetic Map20q13.33NCBI
HuRef2058,763,581 - 58,832,303 (-)NCBIHuRef
CHM1_12061,932,446 - 62,005,065 (-)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 KCNQ2
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 736657
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2018-03-13
Status: ACTIVE