ABCC9

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ABCC9
Identifiers
AliasesABCC9, ABC37, ATFB12, CANTU, CMD1O, SUR2, ATP binding cassette subfamily C member 9
External IDsOMIM: 601439 MGI: 1352630 HomoloGene: 56521 GeneCards: ABCC9
Gene location (Human)
Chromosome 12 (human)
Chr.Chromosome 12 (human)[1]
Chromosome 12 (human)
Genomic location for ABCC9
Genomic location for ABCC9
Band12p12.1Start21,797,401 bp[1]
End21,942,529 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005691
NM_020297
NM_020298
NM_001377273
NM_001377274

RefSeq (protein)

NP_005682
NP_064693
NP_001364202
NP_001364203

NP_001038185
NP_001297072
NP_035641
NP_066378
NP_066379

Location (UCSC)Chr 12: 21.8 – 21.94 MbChr 6: 142.59 – 142.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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[edit]

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[edit]

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[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000069431 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030249 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: ABCC9 , ATP-binding cassette, sub-family C (CFTR/MRP), member 9".
  8. ^ 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.
  9. ^ "The ABCC9 of sleep: A genetic factor regulates how long we sleep".
  10. ^ 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[edit]

External links[edit]

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