ABCC2 Chromosome 10
ATP binding cassette subfamily C member 2
Upload your DNA to see your personal genotypes for variants in ABCC2.
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 |
|---|---|---|---|
| RS2038785200 | Health Risk | Likely pathogenic | — |
| RS2133124899 | Health Risk | Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS2492841473 | Health Risk | Likely pathogenic | — |
| RS2492843794 | Health Risk | Likely pathogenic | — |
| RS2492846710 | Health Risk | Likely pathogenic | — |
| RS2492919806 | Health Risk | Likely pathogenic | — |
| RS2492926991 | Health Risk | Likely pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS2492968753 | Health Risk | Likely pathogenic | — |
| RS2493011181 | Health Risk | Likely pathogenic | — |
| RS2493019052 | Health Risk | Likely pathogenic | — |
| RS2493048479 | Health Risk | Likely pathogenic | — |
| RS533334893 | Health Risk | Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS72558202 | Health Risk | Likely pathogenic | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS753329079 | Health Risk | Likely pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS756707816 | Health Risk | Likely pathogenic | — |
| RS763527398 | Health Risk | Likely pathogenic | — |
| RS765064597 | Health Risk | Likely pathogenic | — |
| RS781481868 | Health Risk | Likely pathogenic | ABCC2-related disorder, Colon adenocarcinoma, Thyroid cancer |
| RS781545154 | Health Risk | Likely pathogenic | — |
| RS1045996985 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS1158274146 | Health Risk | Pathogenic | — |
| RS1161530285 | Health Risk | Pathogenic | — |
| RS1207538473 | Health Risk | Pathogenic | — |
| RS1208873596 | Health Risk | Pathogenic | — |
| RS1226153645 | Health Risk | Pathogenic | — |
| RS1257076487 | Health Risk | Pathogenic | — |
| RS1261223764 | Health Risk | Pathogenic | — |
| RS1280917011 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1313391525 | Health Risk | Pathogenic | — |
| RS1314486961 | Health Risk | Pathogenic | — |
| RS1333544687 | Health Risk | Pathogenic | — |
| RS1347233847 | Health Risk | Pathogenic | — |
| RS1351419381 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS1393497113 | Health Risk | Pathogenic | — |
| RS1454680088 | Health Risk | Pathogenic | — |
| RS145715632 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS1554845888 | Health Risk | Pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS1554849397 | Health Risk | Pathogenic | — |
| RS1554851699 | Health Risk | Pathogenic | — |
| RS1554853026 | Health Risk | Pathogenic | — |
| RS1554854612 | Health Risk | Pathogenic | — |
| RS1564674618 | Health Risk | Pathogenic | — |
| RS1564687941 | Health Risk | Pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS1564688595 | Health Risk | Pathogenic | — |
| RS1564695476 | Health Risk | Pathogenic | — |
| RS1564701009 | Health Risk | Pathogenic | — |
| RS1564702358 | Health Risk | Pathogenic | — |
| RS1590192032 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS17222547 | Health Risk | Pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS183923599 | Health Risk | Pathogenic | — |