ABCC2: ATP Binding Cassette Subfamily C Member 2
Multidrug Resistance-Associated Protein 2 (MRP2) – Key Transporter in Hepatobiliary Excretion and Drug Disposition
Gene Information Card
| Symbol | ABCC2 |
|---|---|
| Full Name | ATP Binding Cassette Subfamily C Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.2 |
| NCBI Gene ID | 1244 ncbi.nlm.nih.gov/gene/1244 |
| Ensembl ID | ENSG00000023839 |
| UniProt ID | Q92887 |
| OMIM ID | 601107 |
| HGNC ID | 53 |
| Aliases | MRP2, cMOAT, DJS, CMOAT, ABC30 |
Description
The ABCC2 gene encodes the multidrug resistance-associated protein 2 (MRP2), an ATP-binding cassette (ABC) transporter primarily expressed on the canalicular membrane of hepatocytes. MRP2 mediates the ATP-dependent export of organic anions, bilirubin glucuronides, and various drugs into bile, playing a critical role in hepatobiliary excretion and detoxification. Mutations in ABCC2 cause Dubin-Johnson syndrome, an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. The gene is also implicated in multidrug resistance in cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dubin-Johnson syndrome | Loss-of-function mutations in ABCC2 impair canalicular transport of conjugated bilirubin, leading to accumulation in hepatocytes and conjugated hyperbilirubinemia. | OMIM #237500; ClinVar; multiple case reports |
| Cholestasis (intrahepatic) | Reduced MRP2 expression or function contributes to impaired bile flow and accumulation of biliary constituents. | NCBI Gene; literature review |
| Drug-induced liver injury | Polymorphisms in ABCC2 may alter drug excretion, increasing susceptibility to hepatotoxicity. | ClinVar; pharmacogenomic studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 57.2 | High |
| Kidney | 18.5 | Medium |
| Small intestine | 12.3 | Medium |
| Colon | 8.1 | Low |
| Lung | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 45.6 | Hepatocellular carcinoma cell line; high MRP2 expression |
| Caco-2 | 22.1 | Colorectal adenocarcinoma; moderate expression |
| HEK293 | 1.2 | Embryonic kidney; very low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2302C>T (p.Arg768Trp) | Missense | Rare | Loss of function; associated with Dubin-Johnson syndrome |
| c.4145A>G (p.Tyr1382Cys) | Missense | Rare | Loss of function; impaired trafficking to plasma membrane |
| c.1815+2T>C | Splice site | Rare | Loss of function; exon skipping, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most ABCC2 mutations cause loss of function, leading to Dubin-Johnson syndrome. Examples: p.Arg768Trp, p.Tyr1382Cys, splice-site variants.
Gain of Function (GOF)
No well-characterized gain-of-function mutations reported in ABCC2.
Dominant Negative (DN)
No evidence of dominant-negative effects; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • ATP binding | • ATPase activity coupled to transmembrane movement of substances |
| • xenobiotic transmembrane transporter activity | • canalicular bile acid transmembrane transporter activity |
| • plasma membrane | • apical plasma membrane |
| • response to drug | • bile acid and bile salt transport |
| • xenobiotic detoxification by transmembrane export |
Pathways
• Bile secretion (KEGG hsa04976)
• ABC transporters (KEGG hsa02010)
• Drug metabolism - other enzymes (KEGG hsa00983)
• Transport of organic anions (Reactome R-HSA-879518)
Protein Summary
MRP2 (ABCC2) is a 1545-amino acid transmembrane glycoprotein belonging to the ABC transporter family. It contains two nucleotide-binding domains (NBDs) and two transmembrane domains (TMDs), with an additional N-terminal TMD0 unique to the MRP subfamily. The protein localizes to the apical (canalicular) membrane of hepatocytes and the apical membrane of renal proximal tubules and intestinal epithelia. MRP2 exports a wide range of organic anions, including bilirubin glucuronides, glutathione conjugates, and many drugs (e.g., methotrexate, statins). Its activity is ATP-dependent and essential for biliary clearance.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ABCC2 Knockout HEK293 Cell Line | EDJ-KQ2210 | Human | 1244 | Details Get a Quote |
| ABCC2 Knockout A-549 Cell Line | EDJ-KQ23835 | Human | 1244 | Details Get a Quote |
| ABCC2 Knockout HCT 116 Cell Line | EDJ-KQ23836 | Human | 1244 | Details Get a Quote |
| ABCC2 Knockout HeLa Cell Line | EDJ-KQ52939 | Human | 1244 | Details Get a Quote |
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