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 |
|---|---|---|---|
| RS370049107 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373365135 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS375385616 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375805189 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS376241522 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376532575 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS377593832 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS4148401 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS4267009 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS536104796 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS552538259 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS559908064 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS56220353 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS564908429 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS565840553 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS746609972 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS749655460 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS749662916 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, Dubin-Johnson syndrome, ABCC2-related disorder |
| RS750755532 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS75148532 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS756299268 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS761197359 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS76302654 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS764390911 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS764566414 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS765304225 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS765570396 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS766320733 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS769209663 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS769700101 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS770824435 | Health Risk | Conflicting classifications of pathogenicity | ABCC2-related disorder, ABCC2-related disorder |
| RS772329652 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS772618481 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS774159224 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS774679828 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS774902843 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777983705 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, ABCC2-related disorder, Dubin-Johnson syndrome |
| RS779736415 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS780515921 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781337846 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS786205465 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS886046618 | Health Risk | Conflicting classifications of pathogenicity | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS1054194575 | Health Risk | Likely pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS1220159784 | Health Risk | Likely pathogenic | — |
| RS1242558715 | Health Risk | Likely pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS1275011230 | Health Risk | Likely pathogenic | — |
| RS1314637261 | Health Risk | Likely pathogenic | — |
| RS1392791154 | Health Risk | Likely pathogenic | — |
| RS1407889404 | Health Risk | Likely pathogenic | — |
| RS2037850990 | Health Risk | Likely pathogenic | — |