ABCC9

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]

ABCC9
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
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p12.1 Start 21,797,389 bp[1] End 21,942,543 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 G2|6 74.35 cM Start 142,533,588 bp[2] End 142,648,041 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh Achilles tendon left ventricle apex of heart right lobe of liver gastric mucosa stromal cell of endometrium buccal mucosa cell body of uterus Top expressed in triceps brachii muscle sternocleidomastoid muscle temporal muscle digastric muscle body of femur ankle ascending aorta myocardium of ventricle soleus muscle intercostal muscle More reference expression data BioGPS n/a
Gene ontology Molecular function nucleotide binding transmembrane transporter binding transporter activity potassium channel regulator activity sulfonylurea receptor activity ATPase activity ATP binding ATPase-coupled inorganic anion transmembrane transporter activity potassium channel activity ATPase-coupled transmembrane transporter activity Cellular component integral component of membrane membrane plasma membrane sarcomere sarcolemma inward rectifying potassium channel Biological process potassium ion transport defense response to virus signal transduction transmembrane transport potassium ion import across plasma membrane regulation of cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10060 20928 Ensembl ENSG00000069431 ENSMUSG00000030249 UniProt O60706 Q8N4N7 P70170 RefSeq (mRNA) NM_005691 NM_020297 NM_020298 NM_001377273 NM_001377274 NM_001044720 NM_011511 NM_021041 NM_021042 NM_021043 NM_001310143 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 Mb Chr 6: 142.53 – 142.65 Mb PubMed search [3] [4]
Wikidata
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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]

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

• Sulfonylurea receptor