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]
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]
^ abcGRCh38: Ensembl release 89: ENSG00000177807 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000044708 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
^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.
^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. S2CID 11588492.
^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. PMC3398803. PMID 19420365.
^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. Bibcode:2008PNAS..105.1751N. doi:10.1073/pnas.0711463105. PMC2234216. PMID 18218777.
^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. PMC5818552. PMID 29464197.
^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. S2CID 195834131.
^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. PMC6782450. PMID 10479680.
Further readingedit
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. PMC6782450. 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. PMC2290207. 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 linksedit
GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
kcnj10, sensitive, inward, rectifier, potassium, channel, protein, that, humans, encoded, gene, identifiersaliases, birk, kcnj13, kir1, kir4, sesame, potassium, voltage, gated, channel, subfamily, member, potassium, inwardly, rectifying, channel, subfamily, me. ATP sensitive inward rectifier potassium channel 10 is a protein that in humans is encoded by the KCNJ10 gene 5 6 7 8 KCNJ10IdentifiersAliasesKCNJ10 BIRK 10 KCNJ13 PEN KIR1 2 KIR4 1 SESAME potassium voltage gated channel subfamily J member 10 potassium inwardly rectifying channel subfamily J member 10External IDsOMIM 602208 MGI 1194504 HomoloGene 1689 GeneCards KCNJ10Gene location Human Chr Chromosome 1 human 1 Band1q23 2Start159 998 651 bp 1 End160 070 160 bp 1 Gene location Mouse Chr Chromosome 1 mouse 2 Band1 H3 1 79 69 cMStart172 168 777 bp 2 End172 201 652 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed ininternal globus pallidusinferior ganglion of vagus nerveexternal globus pallidussubthalamic nucleusnucleus accumbensendothelial cellcaudate nucleusamygdalaputamenventral tegmental areaTop expressed inmammillary bodymedial vestibular nucleuslateral geniculate nucleusdorsal tegmental nucleusmedial dorsal nucleussuperior colliculussubstantia nigrasuprachiasmatic nucleusventromedial nucleuslateral hypothalamusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionnucleotide 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 activityCellular componentintegral component of membrane membrane plasma membrane integral component of plasma membrane basolateral plasma membrane presynapseBiological processregulation 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 membraneSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez376616513EnsemblENSG00000177807ENSMUSG00000044708UniProtP78508Q9JM63RefSeq mRNA NM 002241NM 001039484NM 020269RefSeq protein NP 002232NP 001034573Location UCSC Chr 1 160 160 07 MbChr 1 172 17 172 2 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 EAST syndrome 3 Rett Syndrome 4 Interactions 5 See also 6 References 7 Further reading 8 External linksFunction editThis 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 editHumans 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 editRett 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 editKCNJ10 has been shown to interact with Interleukin 16 13 See also editInward rectifier potassium ion channelReferences edit a b c GRCh38 Ensembl release 89 ENSG00000177807 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000044708 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 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 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 S2CID 11588492 a b Entrez Gene KCNJ10 potassium inwardly rectifying channel subfamily J member 10 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 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 Bibcode 2008PNAS 105 1751N doi 10 1073 pnas 0711463105 PMC 2234216 PMID 18218777 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 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 S2CID 195834131 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 editHorio 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 Hofels 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 editGeneReviews 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 nbsp This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title KCNJ10 amp oldid 1184095371, wikipedia, wiki, book, books, library,
