KCNJ10

KCNJ10
Identifiers
Aliases	KCNJ10, BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME, potassium voltage-gated channel subfamily J member 10
External IDs	MGI: 1194504 HomoloGene: 1689 GeneCards: KCNJ10
Gene location (Human) Chr. Chromosome 1 (human) Band 1q23.2 Start 159,998,651 bp End 160,070,483 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 H3|1 79.69 cM Start 172,341,210 bp End 172,374,085 bp
RNA expression pattern More reference expression data
Gene ontology Molecular function • nucleotide binding • potassium channel activity • voltage-gated ion channel activity • protein binding • ATP-activated inward rectifier potassium channel activity • ATP binding • G-protein activated inward rectifier potassium channel activity • inward rectifier potassium channel activity Cellular component • integral component of membrane • membrane • plasma membrane • integral component of plasma membrane • basolateral plasma membrane • presynapse Biological process • regulation of long-term neuronal synaptic plasticity • central nervous system myelination • regulation of membrane potential • regulation of ion transmembrane transport • ion transport • potassium ion transport • potassium ion homeostasis • potassium ion import • potassium ion transmembrane transport • glutamate reuptake • regulation of resting membrane potential • oligodendrocyte development • visual perception • adult walking behavior • transport Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	3766	16513
Ensembl	ENSG00000177807	ENSMUSG00000044708
UniProt	P78508	Q9JM63
RefSeq (mRNA)	NM_002241	NM_001039484 NM_020269
RefSeq (protein)	NP_002232	NP_001034573
Location (UCSC)	Chr 1: 160 – 160.07 Mb	Chr 1: 172.34 – 172.37 Mb
PubMed search

3766

16513

ENSG00000177807

ENSMUSG00000044708

P78508

Q9JM63

NM_002241

NM_001039484
NM_020269

NP_002232

NP_001034573

ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.

This gene encodes a member of the inward rectifier-type potassium channel family, K_ir4.1, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. K_ir4.1, may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes.

Humans with mutations in the KCNJ10 gene that cause loss of function in related K⁺ channels can display Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy, the EAST syndrome (Gitelman syndrome phenotype) reflecting roles for KCNJ10 gene products in the brain, inner ear and kidney. The K_ir4.1 channel is expressed in the Stria vascularis and is essential for formation of the endolymph, the fluid that surrounds the mechanosensitive stereocilia of the sensory hair cells that make hearing possible.

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Wikipedia