KCNQ4

GENE INFORMATION

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Gene name

KCNQ4 (HGNC Symbol)

Synonyms

DFNA2, Kv7.4

Description

potassium voltage-gated channel, KQT-like subfamily, member 4 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene forms a potassium channel that is thought to play a critical role in the regulation of neuronal excitability, particularly in sensory cells of the cochlea. The current generated by this channel is inhibited by M1 muscarinic acetylcholine receptors and activated by retigabine, a novel anti-convulsant drug. The encoded protein can form a homomultimeric potassium channel or possibly a heteromultimeric channel in association with the protein encoded by the KCNQ3 gene. Defects in this gene are a cause of nonsyndromic sensorineural deafness type 2 (DFNA2), an autosomal dominant form of progressive hearing loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Chromosome

1 (Chromosome progress)

Cytoband

p34.2

Chromosome location (bp)

41249684 - 41306124

Ensembl

ENSG00000117013 (version 73.37)

Entrez gene

9132

UniProt

P56696 (UniProt - Evidence at protein level)

neXtProt

NX_P56696

Antibodypedia

KCNQ4 antibodies
 

PROTEIN VIEW

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KCNQ4-001
 
KCNQ4-003
 
KCNQ4-004
 
 
 
 
 

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)

KCNQ4-001 ENSP00000262916
ENST00000347132
P56696
Show all »
Show » Show » 695 77.1 No 5
KCNQ4-003 ENSP00000406735
ENST00000443478
Show » Show » 556 62.6 Yes 5
KCNQ4-004 ENSP00000423756
ENST00000509682
P56696
Show all »
Show » Show » 641 71.2 No 6