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ABCC9

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ABCC9
Identifiers
AliasesABCC9, ABC37, ATFB12, CANTU, CMD1O, SUR2, ATP binding cassette subfamily C member 9, IDMYS
External IDsOMIM: 601439; MGI: 1352630; HomoloGene: 56521; GeneCards: ABCC9; OMA:ABCC9 - orthologs
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: 142.53 – 142.65 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

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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

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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]

A study involving 12,901 individuals from Iceland demonstrated a link between variants of the ABCC9 gene and higher vocal pitch in both men and women. This discovery establishes ABCC9 as the first identified genetic locus associated with vocal pitch.[11]

See also

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000069431Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030249Ensembl, 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". Physiological Reviews. 78 (1): 227–245. doi:10.1152/physrev.1998.78.1.227. PMID 9457174. S2CID 11851627.
  6. ^ a b Bienengraeber M, Olson TM, Selivanov VA, Kathmann EC, O'Cochlain F, Gao F, et al. (April 2004). "ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating". Nature Genetics. 36 (4): 382–387. doi:10.1038/ng1329. PMC 1995438. PMID 15034580.
  7. ^ "Entrez Gene: ABCC9 , ATP-binding cassette, sub-family C (CFTR/MRP), member 9".
  8. ^ Harakalova M, van Harssel JJ, Terhal PA, van Lieshout S, Duran K, Renkens I, et al. (May 2012). "Dominant missense mutations in ABCC9 cause Cantú syndrome". Nature Genetics. 44 (7): 793–796. doi:10.1038/ng.2324. PMID 22610116. S2CID 205345718.
  9. ^ "The ABCC9 of sleep: A genetic factor regulates how long we sleep".
  10. ^ Allebrandt KV, Amin N, Müller-Myhsok B, Esko T, Teder-Laving M, Azevedo RV, et al. (January 2013). "A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila". Molecular Psychiatry. 18 (1): 122–132. doi:10.1038/mp.2011.142. PMID 22105623.
  11. ^ Gisladottir RS, Helgason A, Halldorsson BV, Helgason H, Borsky M, Chien YR, et al. (June 2023). "Sequence variants affecting voice pitch in humans". Science Advances. 9 (23): eabq2969. Bibcode:2023SciA....9.2969G. doi:10.1126/sciadv.abq2969. PMC 10256171. PMID 37294764.

Further reading

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