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 |
|---|---|---|---|
| RS200606989 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS201212360 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS2038470723 | Health Risk | Pathogenic | — |
| RS2038474519 | Health Risk | Pathogenic | — |
| RS2038752283 | Health Risk | Pathogenic | — |
| RS2038821887 | Health Risk | Pathogenic | — |
| RS2132976682 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS2492813605 | Health Risk | Pathogenic | — |
| RS2492842718 | Health Risk | Pathogenic | — |
| RS2492846692 | Health Risk | Pathogenic | — |
| RS2492859908 | Health Risk | Pathogenic | — |
| RS2492867642 | Health Risk | Pathogenic | — |
| RS2492867827 | Health Risk | Pathogenic | — |
| RS2492873746 | Health Risk | Pathogenic | — |
| RS2492873807 | Health Risk | Pathogenic | — |
| RS2492874992 | Health Risk | Pathogenic | — |
| RS2492905074 | Health Risk | Pathogenic | — |
| RS2492905351 | Health Risk | Pathogenic | — |
| RS2492965035 | Health Risk | Pathogenic | — |
| RS2492965214 | Health Risk | Pathogenic | — |
| RS2492965619 | Health Risk | Pathogenic | — |
| RS2492967168 | Health Risk | Pathogenic | — |
| RS2492968523 | Health Risk | Pathogenic | — |
| RS2493011344 | Health Risk | Pathogenic | — |
| RS2493011457 | Health Risk | Pathogenic | — |
| RS2493011773 | Health Risk | Pathogenic | — |
| RS2493012327 | Health Risk | Pathogenic | — |
| RS2493018899 | Health Risk | Pathogenic | — |
| RS2493023041 | Health Risk | Pathogenic | — |
| RS2493041468 | Health Risk | Pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS2493041971 | Health Risk | Pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS2493048339 | Health Risk | Pathogenic | — |
| RS2493048370 | Health Risk | Pathogenic | — |
| RS2493061190 | Health Risk | Pathogenic | — |
| RS368800587 | Health Risk | Pathogenic | — |
| RS387906395 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS387906396 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS529588584 | Health Risk | Pathogenic | — |
| RS554976086 | Health Risk | Pathogenic | ABCC2-related disorder, Dubin-Johnson syndrome, ABCC2-related disorder |
| RS559137047 | Health Risk | Pathogenic | — |
| RS572224582 | Health Risk | Pathogenic | ABCC2-related disorder, ABCC2-related disorder |
| RS577353173 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS66898362 | Health Risk | Pathogenic | ABCC2-related disorder, Dubin-Johnson syndrome, ABCC2-related disorder |
| RS72558201 | Health Risk | Pathogenic | Dubin-Johnson syndrome, Dubin-Johnson syndrome |
| RS748801711 | Health Risk | Pathogenic | — |
| RS748840439 | Health Risk | Pathogenic | — |
| RS750683352 | Health Risk | Pathogenic | — |
| RS754646220 | Health Risk | Pathogenic | — |
| RS756825916 | Health Risk | Pathogenic | — |
| RS758934998 | Health Risk | Pathogenic | — |