KCNJ10

ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.[5][6][7][8]

KCNJ10
Identifiers
AliasesKCNJ10, 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 IDsOMIM: 602208 MGI: 1194504 HomoloGene: 1689 GeneCards: KCNJ10
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1q23.2Start159,998,651 bp[1]
End160,070,160 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 1: 172.34 – 172.37 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

This gene encodes a member of the inward rectifier-type potassium channel family, Kir4.1, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. Kir4.1, 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.[8]

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.[9] The Kir4.1 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.[10]

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.[11] 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.[12]

Interactions

KCNJ10 has been shown to interact with Interleukin 16.[13]

See also

References
  1. GRCh38: Ensembl release 89: ENSG00000177807 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000044708 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Tada Y, Horio Y, Takumi T, Terayama M, Tsuji L, Copeland NG, et al. (November 1997). "Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1". Genomics. 45 (3): 629–30. doi:10.1006/geno.1997.4957. PMID 9367690.
  6. Shuck ME, Piser TM, Bock JH, Slightom JL, Lee KS, Bienkowski MJ (January 1997). "Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3)". The Journal of Biological Chemistry. 272 (1): 586–93. doi:10.1074/jbc.272.1.586. PMID 8995301.
  7. Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, et al. (December 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacological Reviews. 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105.
  8. "Entrez Gene: KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10".
  9. Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, et al. (May 2009). "Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations". The New England Journal of Medicine. 360 (19): 1960–70. doi:10.1056/NEJMoa0810276. PMC 3398803. PMID 19420365.
  10. Nin F, Hibino H, Doi K, Suzuki T, Hisa Y, Kurachi Y (February 2008). "The endocochlear potential depends on two K+ diffusion potentials and an electrical barrier in the stria vascularis of the inner ear". Proceedings of the National Academy of Sciences of the United States of America. 105 (5): 1751–6. doi:10.1073/pnas.0711463105. PMC 2234216. PMID 18218777.
  11. Kahanovitch U, Cuddapah VA, Pacheco NL, Holt LM, Mulkey DK, Percy AK, Olsen ML (January 2018). "MeCP2 Deficiency Leads to Loss of Glial Kir4.1". eNeuro. 5 (1): ENEURO.0194–17.2018. doi:10.1523/ENEURO.0194-17.2018. PMC 5818552. PMID 29464197.
  12. Cresto N, Pillet LE, Billuart P, Rouach N (August 2019). "Do Astrocytes Play a Role in Intellectual Disabilities?". Trends in Neurosciences. 42 (8): 518–527. doi:10.1016/j.tins.2019.05.011. PMID 31300246.
  13. 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.

Further reading

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

This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.