InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KCNQ4

Summary

InnateDB Protein

IDBP-478250.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KCNQ4

Protein Name

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

Synonyms

DFNA2; DFNA2A; KV7.4;

Species

Homo sapiens

Ensembl Protein

ENSP00000423756

InnateDB Gene

IDBG-97053 (KCNQ4)

Protein Structure

UniProt Annotation

Function

Probably important in the regulation of neuronal excitability. May underlie a potassium current involved in regulating the excitability of sensory cells of the cochlea. KCNQ4 channels are blocked by linopirdin, XE991 and bepridil, whereas clofilium is without significant effect. Muscarinic agonist oxotremorine-M strongly suppress KCNQ4 current in CHO cells in which cloned KCNQ4 channels were coexpressed with M1 muscarinic receptors.

Subcellular Localization

Basal cell membrane; Multi-pass membrane protein. Note=Situated at the basal membrane of cochlear outer hair cells. {ECO:0000250}.

Disease Associations

Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269PubMed:10025409, ECO:0000269PubMed:10369879, ECO:0000269PubMed:10571947, ECO:0000269PubMed:10925378, ECO:0000269PubMed:21242547}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in the outer, but not the inner, sensory hair cells of the cochlea. Slightly expressed in heart, brain and skeletal muscle.

Comments

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: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:0034765	regulation of ion transmembrane transport
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

Protein Structure and Domains

PDB ID

InterPro

IPR003091 Potassium channel
IPR003937 Potassium channel, voltage dependent, KCNQ
IPR005821 Ion transport domain
IPR013099 Two pore domain potassium channel domain
IPR013821 Potassium channel, voltage dependent, KCNQ, C-terminal

PFAM

PF00520
PF07885
PF03520

PRINTS

PR00169
PR01459

PIRSF

SMART

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P56696