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KCNQ4

GENERAL INFORMATION

Gene name

 KCNQ4

Gene description

 Potassium channel, voltage gated KQT-like subfamily Q, 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

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Tissue enhanced (retina)

Protein evidence

 Evidence at protein level

Protein expression

 Cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 No internal RNA expression data available for correlation.

Reliability score

 Uncertain based on 1 antibody.
HPA018305
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (retina)

GENE INFORMATION

Gene name

 KCNQ4 (HGNC Symbol)

Synonyms

 DFNA2, Kv7.4

Description

 Potassium channel, voltage gated KQT-like subfamily Q, 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 83.38)

Entrez gene

 9132

UniProt

 P56696 (UniProt - Evidence at protein level)

neXtProt

 NX_P56696

Antibodypedia

 KCNQ4 antibodies

PROTEIN BROWSER
KCNQ4-001
KCNQ4-003
KCNQ4-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
KCNQ4-001
ENSP00000262916
ENST00000347132
P56696 [Direct mapping]
Potassium voltage-gated channel subfamily KQT member 4
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Potassium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   5TM proteins predicted by MDM
Disease related genes
Potential drug targets
Show all
GO:0005216 [ion channel activity]
GO:0005249 [voltage-gated potassium channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0005267 [potassium channel activity]
GO:0005737 [cytoplasm]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0007268 [synaptic transmission]
GO:0007605 [sensory perception of sound]
GO:0008076 [voltage-gated potassium channel complex]
GO:0009925 [basal plasma membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0032227 [negative regulation of synaptic transmission, dopaminergic]
GO:0034765 [regulation of ion transmembrane transport]
GO:0042472 [inner ear morphogenesis]
GO:0043005 [neuron projection]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
 695 aa
77.1 kDa 		No 5
KCNQ4-003
ENSP00000406735
ENST00000443478
H0Y6N7 [Direct mapping]
Potassium voltage-gated channel subfamily KQT member 4
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   5TM proteins predicted by MDM
Show all
GO:0005216 [ion channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0006811 [ion transport]
GO:0008076 [voltage-gated potassium channel complex]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
 556 aa
62.6 kDa 		Yes 5
KCNQ4-004
ENSP00000423756
ENST00000509682
P56696 [Direct mapping]
Potassium voltage-gated channel subfamily KQT member 4
Show all
Transporters
   Transporter channels and pores
Voltage-gated ion channels
   Voltage-Gated Potassium Channels
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   6TM proteins predicted by MDM
Disease related genes
Potential drug targets
Show all
GO:0005216 [ion channel activity]
GO:0005251 [delayed rectifier potassium channel activity]
GO:0005267 [potassium channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006813 [potassium ion transport]
GO:0007268 [synaptic transmission]
GO:0008076 [voltage-gated potassium channel complex]
GO:0009925 [basal plasma membrane]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0034765 [regulation of ion transmembrane transport]
GO:0055085 [transmembrane transport]
GO:0071805 [potassium ion transmembrane transport]
Show all
 641 aa
71.2 kDa 		No 6

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.