Gene: KCNQ2 (potassium voltage-gated channel subfamily Q member 2) Homo sapiens
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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
Orthologs:
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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Sequence

Nucleotide Sequences
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