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 |
|---|---|---|---|
| RS759252777 | Health Risk | Pathogenic | — |
| RS759781877 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS759959471 | Health Risk | Pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS762291612 | Health Risk | Pathogenic | — |
| RS762346634 | Health Risk | Pathogenic | Inborn genetic diseases, Dubin-Johnson syndrome, Inborn genetic diseases |
| RS762914474 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS764958537 | Health Risk | Pathogenic | — |
| RS765109547 | Health Risk | Pathogenic | — |
| RS765580991 | Health Risk | Pathogenic | — |
| RS765779011 | Health Risk | Pathogenic | — |
| RS766573679 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS767754823 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS769798659 | Health Risk | Pathogenic | — |
| RS770512658 | Health Risk | Pathogenic | — |
| RS771652807 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS773850184 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS774778158 | Health Risk | Pathogenic | — |
| RS774987234 | Health Risk | Pathogenic | — |
| RS775410341 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS776087856 | Health Risk | Pathogenic | — |
| RS776226153 | Health Risk | Pathogenic | — |
| RS777325157 | Health Risk | Pathogenic | — |
| RS780765144 | Health Risk | Pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS781349168 | Health Risk | Pathogenic | — |
| RS864309675 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS1366525701 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS146405172 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive inherited pseudoxanthoma elasticum, ABCC2-related disorder, Autosomal recessive inherited pseudoxanthoma elasticum |
| RS2038244158 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS2038788369 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS2492860078 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS34937870 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS371866713 | Health Risk | Pathogenic/Likely pathogenic | ABCC2-related disorder, Dubin-Johnson syndrome, ABCC2-related disorder |
| RS373384181 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS376398719 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS56199535 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS72558199 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS72558200 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS754267460 | Health Risk | Pathogenic/Likely pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS761406918 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS762243203 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS772673105 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS775771081 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS777438560 | Health Risk | Pathogenic/Likely pathogenic | ABCC2-related disorder, Dubin-Johnson syndrome, ABCC2-related disorder |
| RS777902199 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS903690171 | Health Risk | Pathogenic/Likely pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS919078015 | Health Risk | Pathogenic/Likely pathogenic | — |