“KCNJ10”的意思、由来-开放百科全书

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.^[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 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.^[6]

Interactions

See also

References

1. ^{{cite journal | vauthors = Tada Y, Horio Y, Takumi T, Terayama M, Tsuji L, Copeland NG, Jenkins NA, Kurachi Y | title = Assignment of the glial inwardly rectifying potassium channel KAB-2/Kir4.1 (Kcnj10) gene to the distal region of mouse chromosome 1 | journal = Genomics | volume = 45 | issue = 3 | pages = 629–30 | date = November 1997 | pmid = 9367690 | pmc = | doi = 10.1006/geno.1997.4957 }}
2. ^{{cite journal | vauthors = Shuck ME, Piser TM, Bock JH, Slightom JL, Lee KS, Bienkowski MJ | title = Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3) | journal = The Journal of Biological Chemistry | volume = 272 | issue = 1 | pages = 586–93 | date = January 1997 | pmid = 8995301 | pmc = | doi = 10.1074/jbc.272.1.586 }}
3. ^{{cite journal | vauthors = Kubo Y, Adelman JP, Clapham DE, Jan LY, Karschin A, Kurachi Y, Lazdunski M, Nichols CG, Seino S, Vandenberg CA | title = International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels | journal = Pharmacological Reviews | volume = 57 | issue = 4 | pages = 509–26 | date = December 2005 | pmid = 16382105 | pmc = | doi = 10.1124/pr.57.4.11 }}
4. ^¹{{cite web | title = Entrez Gene: KCNJ10 potassium inwardly-rectifying channel, subfamily J, member 10| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=3766| accessdate = }}
5. ^{{cite journal | vauthors = 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 | title = Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations | journal = The New England Journal of Medicine | volume = 360 | issue = 19 | pages = 1960–70 | date = May 2009 | pmid = 19420365 | pmc = 3398803 | doi = 10.1056/NEJMoa0810276 }}
6. ^{{cite journal | vauthors = Nin F, Hibino H, Doi K, Suzuki T, Hisa Y, Kurachi Y | title = The endocochlear potential depends on two K+ diffusion potentials and an electrical barrier in the stria vascularis of the inner ear | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 105 | issue = 5 | pages = 1751–6 | date = February 2008 | pmid = 18218777 | pmc = 2234216 | doi = 10.1073/pnas.0711463105 }}
7. ^{{cite journal | vauthors = Kurschner C, Yuzaki M | title = Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein | journal = The Journal of Neuroscience | volume = 19 | issue = 18 | pages = 7770–80 | date = September 1999 | pmid = 10479680 | doi = 10.1523/JNEUROSCI.19-18-07770.1999 }}

Further reading

{{cite journal | vauthors = Horio Y, Hibino H, Inanobe A, Yamada M, Ishii M, Tada Y, Satoh E, Hata Y, Takai Y, Kurachi Y | title = Clustering and enhanced activity of an inwardly rectifying potassium channel, Kir4.1, by an anchoring protein, PSD-95/SAP90 | journal = The Journal of Biological Chemistry | volume = 272 | issue = 20 | pages = 12885–8 | date = May 1997 | pmid = 9148889 | doi = 10.1074/jbc.272.20.12885 }}

{{cite journal | vauthors = Kurschner C, Mermelstein PG, Holden WT, Surmeier DJ|authorlink4=D. James Surmeier | title = CIPP, a novel multivalent PDZ domain protein, selectively interacts with Kir4.0 family members, NMDA receptor subunits, neurexins, and neuroligins | journal = Molecular and Cellular Neurosciences | volume = 11 | issue = 3 | pages = 161–72 | date = June 1998 | pmid = 9647694 | doi = 10.1006/mcne.1998.0679 }}

{{cite journal | vauthors = Kurschner C, Yuzaki M | title = Neuronal interleukin-16 (NIL-16): a dual function PDZ domain protein | journal = The Journal of Neuroscience | volume = 19 | issue = 18 | pages = 7770–80 | date = September 1999 | pmid = 10479680 | doi = 10.1523/JNEUROSCI.19-18-07770.1999}}

{{cite journal | vauthors = Schoots O, Wilson JM, Ethier N, Bigras E, Hebert TE, Van Tol HH | title = Co-expression of human Kir3 subunits can yield channels with different functional properties | journal = Cellular Signalling | volume = 11 | issue = 12 | pages = 871–83 | date = December 1999 | pmid = 10659995 | doi = 10.1016/S0898-6568(99)00059-5 }}

{{cite journal | vauthors = Fujita A, Horio Y, Higashi K, Mouri T, Hata F, Takeguchi N, Kurachi Y | title = 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 | journal = The Journal of Physiology | volume = 540 | issue = Pt 1 | pages = 85–92 | date = April 2002 | pmid = 11927671 | pmc = 2290207 | doi = 10.1113/jphysiol.2001.013439 }}

{{cite journal | vauthors = Farook VS, Hanson RL, Wolford JK, Bogardus C, Prochazka M | title = Molecular analysis of KCNJ10 on 1q as a candidate gene for Type 2 diabetes in Pima Indians | journal = Diabetes | volume = 51 | issue = 11 | pages = 3342–6 | date = November 2002 | pmid = 12401729 | doi = 10.2337/diabetes.51.11.3342 }}

{{cite journal | vauthors = Konstas AA, Korbmacher C, Tucker SJ | title = Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels | journal = American Journal of Physiology. Cell Physiology | volume = 284 | issue = 4 | pages = C910–7 | date = April 2003 | pmid = 12456399 | doi = 10.1152/ajpcell.00479.2002 }}

{{cite journal | vauthors = Casamassima M, D'Adamo MC, Pessia M, Tucker SJ | title = Identification of a heteromeric interaction that influences the rectification, gating, and pH sensitivity of Kir4.1/Kir5.1 potassium channels | journal = The Journal of Biological Chemistry | volume = 278 | issue = 44 | pages = 43533–40 | date = October 2003 | pmid = 12923169 | doi = 10.1074/jbc.M306596200 }}

{{cite journal | vauthors = Buono RJ, Lohoff FW, Sander T, Sperling MR, O'Connor MJ, Dlugos DJ, Ryan SG, Golden GT, Zhao H, Scattergood TM, Berrettini WH, Ferraro TN | title = Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility | journal = Epilepsy Research | volume = 58 | issue = 2–3 | pages = 175–83 | date = February 2004 | pmid = 15120748 | doi = 10.1016/j.eplepsyres.2004.02.003 }}

{{cite journal | vauthors = Lenzen KP, Heils A, Lorenz S, Hempelmann A, Höfels S, Lohoff FW, Schmitz B, Sander T | title = Supportive evidence for an allelic association of the human KCNJ10 potassium channel gene with idiopathic generalized epilepsy | journal = Epilepsy Research | volume = 63 | issue = 2–3 | pages = 113–8 | date = February 2005 | pmid = 15725393 | doi = 10.1016/j.eplepsyres.2005.01.002 }}

{{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = October 2005 | pmid = 16189514 | doi = 10.1038/nature04209 }}