KCNQ2

GENE INFORMATION

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Gene name

KCNQ2 (HGNC Symbol)

Synonyms

BFNC, EBN, EBN1, ENB1, HNSPC, KCNA11, Kv7.2

Description

Potassium voltage-gated channel, KQT-like subfamily, member 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

20

Cytoband

q13.33

Chromosome location (bp)

63406039 - 63472638

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000075043 (version 78.38)

Entrez gene

3785

UniProt

O43526 (UniProt - Evidence at protein level)

neXtProt

NX_O43526

Antibodypedia

KCNQ2 antibodies
 

PROTEIN VIEW

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KCNQ2-001
 
KCNQ2-003
 
KCNQ2-006
 
KCNQ2-007
 
KCNQ2-011
 
KCNQ2-012
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

KCNQ2-001 ENSP00000349789
ENST00000357249
O43526
Show all »
Show » Show » 854 94.1 No 6
KCNQ2-003 ENSP00000352035
ENST00000359125
O43526
Show all »
Show » Show » 872 95.8 No 6
KCNQ2-006 ENSP00000345523
ENST00000344425
O43526
Show all »
Show » Show » 393 44.3 No 6
KCNQ2-007 ENSP00000359244
ENST00000370224
Q4VXP6
Show all »
Show » Show » 880 97.1 No 5
KCNQ2-011 ENSP00000353668
ENST00000360480
O43526
Show all »
Show » Show » 844 93.1 No 6
KCNQ2-012 ENSP00000339611
ENST00000344462
O43526
Show all »
Show » Show » 841 92.6 No 5