KCNJ10

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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: 3766
RNA expression pattern
PBB GE KCNJ10 206692 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_002241

NM_001039484
NM_020269

RefSeq (protein)

NP_002232.2

NP_001034573.1

Location (UCSC) Chr 1: 160.04 – 160.07 Mb Chr 1: 172.34 – 172.37 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.[1][2][3][4]

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.[4]

EAST syndrome[edit]

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.[5] 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.[6]

Interactions[edit]

KCNJ10 has been shown to interact with Interleukin 16.[7]

See also[edit]

References[edit]

  1. ^ Tada Y, Horio Y, Takumi T, Terayama M, Tsuji L, Copeland NG, Jenkins NA, Kurachi Y (Jan 1998). "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. 
  2. ^ Shuck ME, Piser TM, Bock JH, Slightom JL, Lee KS, Bienkowski MJ (Feb 1997). "Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3)". J Biol Chem 272 (1): 586–93. doi:10.1074/jbc.272.1.586. PMID 8995301. 
  3. ^ Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA (Dec 2005). "International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels". Pharmacol Rev 57 (4): 509–26. doi:10.1124/pr.57.4.11. PMID 16382105. 
  4. ^ a b "Entrez Gene: KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10". 
  5. ^ Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R (May 2009). "Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations". N Engl J Med. 2009 May 7;360(19):. 360 (19): 1960–70. doi:10.1056/NEJMoa0810276. PMC 3398803. PMID 19420365. 
  6. ^ 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". Proc Natl Acad Sci U S A. 105 (5): 1751–1756. doi:10.1073/pnas.0711463105. PMC 2234216. PMID 18218777. 
  7. ^ Kurschner, C; Yuzaki M (Sep 1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". J. Neurosci. 19 (18): 7770–80. PMID 10479680. 

Further reading[edit]

External links[edit]

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