ABCC9

ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Identifiers
Symbols ABCC9 ; ABC37; ATFB12; CANTU; CMD1O; SUR2
External IDs OMIM: 601439 MGI: 1352630 HomoloGene: 56521 IUPHAR: 2746 ChEMBL: 1971 GeneCards: ABCC9 Gene
Orthologs
Species Human Mouse
Entrez 10060 20928
Ensembl ENSG00000069431 ENSMUSG00000030249
UniProt O60706 P70170
RefSeq (mRNA) NM_005691 NM_001044720
RefSeq (protein) NP_005682 NP_001038185
Location (UCSC) Chr 12:
21.8 – 21.94 Mb		 Chr 6:
142.59 – 142.7 Mb
PubMed search

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.[1][2]

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.[3]

Clinical significance

The gene has been associated with dilated cardiomyopathy and Cantú syndrome.[2][4]

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.[5][6]

See also

References

  1. ↑ 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. PMID 9457174.
  2. 1 2 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.
  3. ↑ "Entrez Gene: ABCC9 , ATP-binding cassette, sub-family C (CFTR/MRP), member 9".
  4. ↑ 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. "Dominant missense mutations in ABCC9 cause Cantú syndrome". Nature Genetics 44: 793–796. doi:10.1038/ng.2324.
  5. ↑ "The ABCC9 of sleep: A genetic factor regulates how long we sleep".
  6. ↑ 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: 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. 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. 
  • 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

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


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