KCNJ10

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

KCNJ10
Identifiers
Aliases	KCNJ10, BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME, potassium voltage-gated channel subfamily J member 10, potassium inwardly rectifying channel subfamily J member 10
External IDs	OMIM: 602208; MGI: 1194504; HomoloGene: 1689; GeneCards: KCNJ10; OMA:KCNJ10 - orthologs
Gene location (Human) Chr. Chromosome 1 (human) Band 1q23.2 Start 159,998,651 bp End 160,070,160 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 H3|1 79.69 cM Start 172,168,777 bp End 172,201,652 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in C1 segment internal globus pallidus inferior ganglion of vagus nerve external globus pallidus pars reticulata subthalamic nucleus nucleus accumbens endothelial cell caudate nucleus pars compacta Top expressed in deep cerebellar nuclei mammillary body medial vestibular nucleus lateral geniculate nucleus dorsal tegmental nucleus medial dorsal nucleus superior colliculus substantia nigra suprachiasmatic nucleus ventromedial nucleus More reference expression data BioGPS 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 transmembrane transport glutamate reuptake regulation of resting membrane potential oligodendrocyte development visual perception adult walking behavior potassium ion import across plasma membrane 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: 172.17 – 172.2 Mb PubMed search
Wikidata
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Function

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.

EAST syndrome

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.

Rett Syndrome

Rett syndrome is a neurological disorder characterized by a mutation in the MeCP2 gene. This mutation results in less MeCP2. KCNJ10 expression is upregulated by the transcription factor MeCP2. MeCP2 deficiency leads to less Kir4.1 channels present on astrocytes in the brain. Since there are fewer channels allowing potassium into the cells, extracellular potassium levels are higher. Higher extracellular potassium leaves neurons more easily excitable which could contribute to the epilepsy observed in many Rett Syndrome patients.

Interactions

KCNJ10 has been shown to interact with Interleukin 16.

See also

• Inward-rectifier potassium ion channel

Further reading

• Horio Y, Hibino H, Inanobe A, Yamada M, Ishii M, Tada Y, et al. (May 1997). "Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/SAP90". The Journal of Biological Chemistry. 272 (20): 12885–8. doi:10.1074/jbc.272.20.12885. PMID 9148889.
• Kurschner C, Mermelstein PG, Holden WT, Surmeier DJ (June 1998). "CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins". Molecular and Cellular Neurosciences. 11 (3): 161–72. doi:10.1006/mcne.1998.0679. PMID 9647694. S2CID 36534759.
• Kurschner C, Yuzaki M (September 1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". The Journal of Neuroscience. 19 (18): 7770–80. doi:10.1523/JNEUROSCI.19-18-07770.1999. PMC 6782450. PMID 10479680.
• Schoots O, Wilson JM, Ethier N, Bigras E, Hebert TE, Van Tol HH (December 1999). "Co-expression of human Kir3 subunits can yield channels with different functional properties". Cellular Signalling. 11 (12): 871–83. doi:10.1016/S0898-6568(99)00059-5. PMID 10659995.
• Fujita A, Horio Y, Higashi K, Mouri T, Hata F, Takeguchi N, Kurachi Y (April 2002). "Specific localization of an inwardly rectifying K( ) channel, Kir4.1, at the apical membrane of rat gastric parietal cells; its possible involvement in K( ) recycling for the H( )-K( )-pump". The Journal of Physiology. 540 (Pt 1): 85–92. doi:10.1113/jphysiol.2001.013439. PMC 2290207. PMID 11927671.
• Farook VS, Hanson RL, Wolford JK, Bogardus C, Prochazka M (November 2002). "Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians". Diabetes. 51 (11): 3342–6. doi:10.2337/diabetes.51.11.3342. PMID 12401729. S2CID 44659955.
• Konstas AA, Korbmacher C, Tucker SJ (April 2003). "Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels". American Journal of Physiology. Cell Physiology. 284 (4): C910–7. doi:10.1152/ajpcell.00479.2002. PMID 12456399. S2CID 2525019.
• Casamassima M, D'Adamo MC, Pessia M, Tucker SJ (October 2003). "Identification of a heteromeric interaction that influences the rectification, gating, and pH sensitivity of Kir4.1/Kir5.1 potassium channels". The Journal of Biological Chemistry. 278 (44): 43533–40. doi:10.1074/jbc.M306596200. PMID 12923169.
• Buono RJ, Lohoff FW, Sander T, Sperling MR, O'Connor MJ, Dlugos DJ, et al. (February 2004). "Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility". Epilepsy Research. 58 (2–3): 175–83. doi:10.1016/j.eplepsyres.2004.02.003. PMID 15120748. S2CID 3186905.
• Lenzen KP, Heils A, Lorenz S, Hempelmann A, Höfels S, Lohoff FW, et al. (February 2005). "Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy". Epilepsy Research. 63 (2–3): 113–8. doi:10.1016/j.eplepsyres.2005.01.002. PMID 15725393. S2CID 23643776.
• Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, et al. (October 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID 16189514. S2CID 4427026.
• Huang C, Sindic A, Hill CE, Hujer KM, Chan KW, Sassen M, et al. (March 2007). "Interaction of the Ca2 -sensing receptor with the inwardly rectifying potassium channels Kir4.1 and Kir4.2 results in inhibition of channel function". American Journal of Physiology. Renal Physiology. 292 (3): F1073–81. doi:10.1152/ajprenal.00269.2006. PMID 17122384.

External links

• GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
• KCNJ10 protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.