KCNQ4

GENERAL INFORMATION

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Gene name

KCNQ4

Gene description

Potassium voltage-gated channel, KQT-like subfamily, member 4

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters
Voltage-gated ion channels

Predicted localization

Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Moderate membranous positivity was for example observed in pancreatic islets, liver, cells in seminiferus ducts, skeletal muscle and some neuronal cells. The remaining normal tissues were generally negative.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA018305
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



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

Cytoband

p34.2

Chromosome location (bp)

40784012 - 40840452

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000117013 (version 78.38)

Entrez gene

9132

UniProt

P56696 (UniProt - Evidence at protein level)

neXtProt

NX_P56696

Antibodypedia

KCNQ4 antibodies


PROTEIN BROWSER

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ENST00000347132
 
ENST00000443478
 
ENST00000509682
 
 
 
 


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