KCNJ10

From Wikipedia, the free encyclopedia
Jump to: navigation, search
Potassium inwardly-rectifying channel, subfamily J, member 10
Identifiers
Symbols KCNJ10 ; BIRK-10; KCNJ13-PEN; KIR1.2; KIR4.1; SESAME
External IDs OMIM602208 MGI1194504 HomoloGene1689 IUPHAR: Kir4.1 GeneCards: KCNJ10 Gene
RNA expression pattern
PBB GE KCNJ10 206692 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 3766 16513
Ensembl ENSG00000177807 ENSMUSG00000044708
UniProt P78508 Q9JM63
RefSeq (mRNA) NM_002241 NM_001039484
RefSeq (protein) NP_002232 NP_001034573
Location (UCSC) Chr 1:
160.01 – 160.04 Mb
Chr 1:
172.34 – 172.37 Mb
PubMed search [1] [2]

ATP-sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene.1234

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

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

KCNJ10 has been shown to interact with Interleukin 16.7

See also

References

  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. 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 1999). "Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein". J. Neurosci. (UNITED STATES) 19 (18): 7770–80. PMID 10479680. 

Further reading

External links

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









Creative Commons License