Version 5.4
Homo sapiens Gene: KCNQ4
Summary
InnateDB Gene IDBG-97053.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KCNQ4
Gene Name potassium voltage-gated channel, KQT-like subfamily, member 4
Synonyms DFNA2; DFNA2A; KV7.4
Species Homo sapiens
Ensembl Gene ENSG00000117013
Encoded Proteins
IDBP-97055
potassium voltage-gated channel, KQT-like subfamily, member 4
IDBP-381466
potassium voltage-gated channel, KQT-like subfamily, member 4
IDBP-478250
potassium voltage-gated channel, KQT-like subfamily, member 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:40784012-40840452
Strand Forward strand
Band p34.2
Transcripts
ENST00000347132 ENSP00000262916
ENST00000443478 ENSP00000406735
ENST00000509682 ENSP00000423756
ENST00000506017
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005216 ion channel activity
GO:0005249 voltage-gated potassium channel activity
GO:0005251 delayed rectifier potassium channel activity
GO:0005267 potassium channel activity
Biological Process
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0007268 synaptic transmission
GO:0007605 sensory perception of sound
GO:0034765 regulation of ion transmembrane transport
GO:0042472 inner ear morphogenesis
GO:0055085 transmembrane transport
GO:0071805 potassium ion transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0008076 voltage-gated potassium channel complex
GO:0009925 basal plasma membrane
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000028631
View Gene Order
ENSBTAG00000002644
Not yet available
Pathways
NETPATH
REACTOME
REACT_75770
Voltage gated Potassium channels pathway
REACT_13685
Neuronal System pathway
REACT_75908
Potassium Channels pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.473058
RefSeq NM_004700 NM_172163
HUGO
OMIM
CCDS CCDS456
HPRD 04641
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca