ABCC9
| ABCC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ABCC9, ABC37, ATFB12, CANTU, CMD1O, SUR2, ATP binding cassette subfamily C member 9, IDMYS | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601439; MGI: 1352630; HomoloGene: 56521; GeneCards: ABCC9; OMA:ABCC9 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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ATP-binding cassette, sub-family C member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is an ATP-binding cassette transporter that in humans is encoded by the ABCC9 gene.[5][6]
Function
The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extrapancreatic ATP-sensitive potassium channels. Alternative splicing of this gene results in several products, two of which result from differential usage of two terminal exons and one of which results from exon deletion.[7]
- SUR2A — uses exon 38A
- SUR2B — uses exon 38B
- SUR-delta-14 — lack exon 14 and uses exon 38A
Clinical significance
The gene has been associated with dilated cardiomyopathy and Cantú syndrome.[6][8]
A variant has also been associated with circa 25 minutes more sleep per day in humans; lack thereof has been associated with three hours less sleep per day in fruit flies.[9][10]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000069431 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030249 – 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.
- ^ Aguilar-Bryan L, Clement JP, Gonzalez G, Kunjilwar K, Babenko A, Bryan J (January 1998). "Toward understanding the assembly and structure of KATP channels". Physiol. Rev. 78 (1): 227–45. doi:10.1152/physrev.1998.78.1.227. PMID 9457174. S2CID 11851627.
- ^ a b Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F, Karger AB, Ballew JD, Hodgson DM, Zingman LV, Pang YP, Alekseev AE, Terzic A (April 2004). "ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating". Nat. Genet. 36 (4): 382–7. doi:10.1038/ng1329. PMC 1995438. PMID 15034580.
- ^ "Entrez Gene: ABCC9 , ATP-binding cassette, sub-family C (CFTR/MRP), member 9".
- ^ Harakalova, Magdalena; van Harssel, Jeske J T; Terhal, Paulien A; van Lieshout, Stef; Duran, Karen; Renkens, Ivo; Amor, David J; Wilson, Louise C; Kirk, Edwin P; Turner, Claire L S; Shears, Debbie; Garcia-Minaur, Sixto; Lees, Melissa M; Ross, Alison; Venselaar, Hanka; Vriend, Gert; Takanari, Hiroki; Rook, Martin B; van der Heyden, Marcel A G; Asselbergs, Folkert W; Breur, Hans M; Swinkels, Marielle E; Scurr, Ingrid J; Smithson, Sarah F; Knoers, Nine V; van der Smagt, Jasper J; Nijman, Isaac J; Kloosterman, Wigard P; van Haelst, Mieke M; van Haaften, Gijs; Cuppen, Edwin (2012). "Dominant missense mutations in ABCC9 cause Cantú syndrome". Nature Genetics. 44 (7): 793–796. doi:10.1038/ng.2324. PMID 22610116.
- ^ "The ABCC9 of sleep: A genetic factor regulates how long we sleep".
- ^ Allebrandt, KV; et al. (Nov 2011). "A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila". Mol. Psychiatry. 18 (1): 122–132. doi:10.1038/mp.2011.142. PMID 22105623.
Further reading
- Jiao J, Garg V, Yang B, et al. (2008). "Protein kinase C-epsilon induces caveolin-dependent internalization of vascular adenosine 5'-triphosphate-sensitive K+ channels". Hypertension. 52 (3): 499–506. doi:10.1161/HYPERTENSIONAHA.108.110817. PMID 18663158.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
- Croker B, Crozat K, Berger M, et al. (2007). "ATP-sensitive potassium channels mediate survival during infection in mammals and insects". Nat. Genet. 39 (12): 1453–60. doi:10.1038/ng.2007.25. PMID 18026101.
- Kang Y, Ng B, Leung YM, et al. (2006). "Syntaxin-1A actions on sulfonylurea receptor 2A can block acidic pH-induced cardiac K(ATP) channel activation". J. Biol. Chem. 281 (28): 19019–28. doi:10.1074/jbc.M513160200. PMID 16672225.
- Saito A, Kawamoto M, Kamatani N (2009). "Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects". J. Hum. Genet. 54 (6): 317–23. doi:10.1038/jhg.2009.31. PMID 19343046.
- Insuk SO, Chae MR, Choi JW, et al. (2003). "Molecular basis and characteristics of KATP channel in human corporal smooth muscle cells". Int. J. Impot. Res. 15 (4): 258–66. doi:10.1038/sj.ijir.3901013. PMID 12934053.
- Singh H, Hudman D, Lawrence CL, et al. (2003). "Distribution of Kir6.0 and SUR2 ATP-sensitive potassium channel subunits in isolated ventricular myocytes". J. Mol. Cell. Cardiol. 35 (5): 445–59. doi:10.1016/S0022-2828(03)00041-5. hdl:2381/14. PMID 12738227.
- Jöns T, Wittschieber D, Beyer A, Meier C, Brune A, Thomzig A, Ahnert-Hilger G, Veh RW (August 2006). "K+-ATP-channel-related protein complexes: potential transducers in the regulation of epithelial tight junction permeability". J. Cell Sci. 119 (Pt 15): 3087–97. doi:10.1242/jcs.03041. PMID 16820413.
- Minoretti P, Falcone C, Aldeghi A, et al. (2006). "A novel Val734Ile variant in the ABCC9 gene associated with myocardial infarction". Clin. Chim. Acta. 370 (1–2): 124–8. doi:10.1016/j.cca.2006.02.007. PMID 16563363.
- Kang Y, Leung YM, Manning-Fox JE, et al. (2004). "Syntaxin-1A inhibits cardiac KATP channels by its actions on nucleotide binding folds 1 and 2 of sulfonylurea receptor 2A". J. Biol. Chem. 279 (45): 47125–31. doi:10.1074/jbc.M404954200. PMID 15339904.
- Burke MA, Mutharasan RK, Ardehali H (2008). "The sulfonylurea receptor, an atypical ATP-binding cassette protein, and its regulation of the KATP channel". Circ. Res. 102 (2): 164–76. doi:10.1161/CIRCRESAHA.107.165324. PMID 18239147.
- Ellis JA, Lamantia A, Chavez R, et al. (2010). "Genes controlling postural changes in blood pressure: comprehensive association analysis of ATP-sensitive potassium channel genes KCNJ8 and ABCC9". Physiol. Genomics. 40 (3): 184–8. doi:10.1152/physiolgenomics.00173.2009. PMID 19952277. S2CID 6561063.
- Sato N, Nakayama T, Asai S, Soma M (2006). "A haplotype in the human Sur2 gene is associated with essential hypertension". J Hum Hypertens. 20 (1): 87–90. doi:10.1038/sj.jhh.1001943. PMID 16267564.
- Curley M, Cairns MT, Friel AM, et al. (2002). "Expression of mRNA transcripts for ATP-sensitive potassium channels in human myometrium". Mol. Hum. Reprod. 8 (10): 941–5. doi:10.1093/molehr/8.10.941. PMID 12356945.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ploug KB, Sørensen MA, Strøbech L, et al. (2008). "K ATP channels in pig and human intracranial arteries". Eur. J. Pharmacol. 601 (1–3): 43–9. doi:10.1016/j.ejphar.2008.10.041. PMID 18996111.
- Garg V, Sun W, Hu K (2009). "Caveolin-3 negatively regulates recombinant cardiac K(ATP) channels". Biochem. Biophys. Res. Commun. 385 (3): 472–7. doi:10.1016/j.bbrc.2009.05.100. PMID 19481058.
External links
- ABCC9 human gene location in the UCSC Genome Browser.
- ABCC9 human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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