ATP-Binding Cassette, Subfamily C, Member 2

Alternative Names

  • ABCC2
  • Multispecific Organic Anion Transporter, Canalicular
  • CMOAT
  • Multidrug Resistance-Associated Protein 2
  • MRP2

Associated Diseases

Dubin-Johnson Syndrome
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OMIM Number

601107

NCBI Gene ID

1244

Uniprot ID

Q92887

Length

69,955 bases

No. of Exons

34

Protein Name

ATP-binding cassette sub-family C member 2

Molecular Mass

174207 Da

Amino Acid Count

1545

Genomic Location

chr10:99,782,640-99,852,594

Gene Map Locus
10q24.2

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 expressed in the canalicular (apical) part of the hepatocyte and functions in biliary transport. Substrates include anticancer drugs such as vinblastine; therefore, this protein appears to contribute to drug resistance in mammalian cells. Several different mutations in this gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000392.5:c.2273G>TSaudi ArabiaNC_000010.11:g.99818791G>TLikely Pathogenic, Pathogenic, Uncertain SignificanceLikely PathogenicDubin-Johnson SyndromeNG_011798.2:g.41194G>T; NM_000392.5:c.2273G>T; NP_000383.2:p.Gly758Val786205465191014
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