ABCC2 Chromosome 10
ATP binding cassette subfamily C member 2
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATP binding cassette subfamily C
Locus Type
gene with protein product
Location
10q24.2
Ensembl
ENSG00000023839
Associated Conditions (12)
Dubin-Johnson syndrome
ABCC2-related disorder
Acute myeloid leukemia
Melanoma
Familial cancer of breast
Hepatocellular carcinoma
Inborn genetic diseases
Colon adenocarcinoma
Thyroid cancer
nonmedullary
1
Autosomal recessive inherited pseudoxanthoma elasticum
Key Variants
RS113646094
Conflicting classifications of pathogenicity
Health Risk
RS1184984382
Conflicting classifications of pathogenicity
Health Risk
RS1232223149
Conflicting classifications of pathogenicity
Dubin-Johnson syndrome, Dubin-Johnson syndrome
Health Risk
RS1298723259
Conflicting classifications of pathogenicity
Health Risk
RS138673546
Conflicting classifications of pathogenicity
ABCC2-related disorder, ABCC2-related disorder
Health Risk
RS139082536
Conflicting classifications of pathogenicity
Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome
Health Risk
RS139188247
Conflicting classifications of pathogenicity
Dubin-Johnson syndrome, Dubin-Johnson syndrome
Health Risk
RS139800035
Conflicting classifications of pathogenicity
Dubin-Johnson syndrome, Acute myeloid leukemia, ABCC2-related disorder
Health Risk
RS140680467
Conflicting classifications of pathogenicity
Dubin-Johnson syndrome, Dubin-Johnson syndrome
Health Risk
RS142443276
Conflicting classifications of pathogenicity
Health Risk
RS142573385
Conflicting classifications of pathogenicity
Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome
Health Risk
RS142700351
Conflicting classifications of pathogenicity
ABCC2-related disorder, ABCC2-related disorder
Health Risk
All Variants (246)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113646094 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1184984382 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1232223149 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS1298723259 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138673546 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS139082536 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS139188247 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS139800035 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Acute myeloid leukemia, ABCC2-related disorder |
| RS140680467 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS142443276 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142573385 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS142700351 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS144192700 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Familial cancer of breast |
| RS144390464 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS144521346 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS144967259 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS145350474 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146575217 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS146718433 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147494662 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147614414 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS148081784 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148393425 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS149200446 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS149359610 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149593061 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Inborn genetic diseases, Dubin-Johnson syndrome |
| RS149854486 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS150472537 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS150575961 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, Dubin-Johnson syndrome, ABCC2-related disorder |
| RS151304543 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS1554850241 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1554853606 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1564673185 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS17216324 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS17222540 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS17222589 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS17222610 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS17222624 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS17222632 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS17222674 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS17222716 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS17222744 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS199595780 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS200104823 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS200595851 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS200883270 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS200976632 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201874841 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201946946 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS368321703 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |