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ABCC2

Chr 10q24.2

ATP binding cassette subfamily C member 2

Aliases:
DJS, MRP2, cMRP
MANE:
ENST00000647814.1

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Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Cholestasis

    BIALLELIC, autosomal or pseudoautosomal
  • Neonatal cholestasis

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Dubin-Johnson syndrome

    0.82
  • Intrahepatic cholestasis of pregnancy

    0.48
  • cholestasis

    0.48
  • hereditary disease

    0.47
  • autosomal recessive inherited pseudoxanthoma elasticum

    0.26
  • Abnormality of the liver

    0.26
  • prostatitis

    0.26
  • hypothyroidism

    0.25
  • cataract

    0.18
  • progressive familial intrahepatic cholestasis

    0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

ATP-binding cassette sub-family C member 2

ATP-dependent transporter of the ATP-binding cassette (ABC) family that hydrolyzes ATP to enable active transport of endogenous and xenobiotic substrates conjugated with glucuronate, glutathione or sulfate. Operates at apical membranes of polarized cells such as hepatocytes, renal and intestinal epithelial cells, where it mediates hepatobiliary and renal excretion of conjugated substrates preventing them from being recycled back into the bloodstream (PubMed:10220572, PubMed:10421658, PubMed:11500505, PubMed:16332456, PubMed:29175180, PubMed:30959153, PubMed:31704245). Involved in canalicular bile production. Mediates hepatobiliary excretion of mono- and bis-glucuronidated bilirubin, enabling bilirubin detoxification (PubMed:10421658). Mediates the efflux of steroid glucuronates and may regulate their hepatobiliary and renal metabolic clearance. Displays low affinity but high transport velocity toward androgen conjugates such as testosterone and dihydrotestosterone glucuronates as well as toward estrogen conjugates including estradiol, estrone and estriol glucuronates (PubMed:29175180, PubMed:30959153, PubMed:31704245). May control the hepatobiliary and renal efflux of inflammatory leukotriene C4 (LTC4) and related cysteinyl leukotrienes (PubMed:11500505). Transports sulfated bile salt such as taurolithocholate sulfate (PubMed:16332456). It is functionally inactive toward androgen sulfates (PubMed:39993711). Transports various anticancer drugs, such as anthracycline, vinca alkaloid and methotrexate and HIV-drugs such as protease inhibitors (PubMed:10220572, PubMed:11500505, PubMed:12441801). Can confer resistance to several anticancer drugs including cisplatin, doxorubicin, epirubicin, methotrexate, etoposide and vincristine, by decreasing accumulation of these drugs in cells (PubMed:10220572, PubMed:11500505)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.