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Gene : ABCC9 Homo sapiens

Name  ? ATP binding cassette subfamily C member 9 Cytological Location  12p12.1
Brief Description  ATP binding cassette subfamily C member 9
Description  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 extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011]
  • synonyms:
  • AF061323,
  • CMD1O,
  • HGNC:60,
  • SUR2,
  • ATFB12,
  • SUR2,
  • NM_005691,
  • sulfonylurea receptor 2,
  • CMD1O,
  • CANTU,
  • OTTHUMG00000169094,
  • ATP-binding cassette, sub-family C (CFTR/MRP), member 9,
  • ABC37,
  • uc001rfi.2,
  • ABCC9
  • identifiers:
  • 10060,
  • ENSG00000069431,
  • ABCC9

Genome feature

Region: gene ? Length: 144475  
Location: 12:21797389-21941863 reverse strand Cyto location: 12p12.1


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Proteins

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SNPs

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Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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Other

469 SN Ps

5 Cross References

20 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results