Entrez Gene ID | 1244 |
---|---|
Official Gene Symbol | ABCC2 (GeneCards) |
Full name | ATP binding cassette subfamily C member 2 |
Location | 10q24.2 |
Other ids | Vega : OTTHUMG00000018895 MIM : 601107 HGNC : HGNC:53 Ensembl : ENSG00000023839 |
Other names | DJS, MRP2, cMRP, ABC30, CMOAT |
Summary | 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] |
Found 6 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
13885 | 1244 | ABCC2 | 10 | 101568836 | 101568836 | Asymptomatic | HiSeq X Ten |
13967 | 1244 | ABCC2 | 10 | 101631323 | 101631323 | Asymptomatic | HiSeq X Ten |
13974 | 1244 | ABCC2 | 10 | 101592034 | 101592034 | Asymptomatic | HiSeq X Ten |
13975 | 1244 | ABCC2 | 10 | 101609119 | 101609119 | Asymptomatic | HiSeq X Ten |
27135 | 1244 | ABCC2 | 10 | 101542784 | 101542784 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
29835 | 1244 | ABCC2 | 10 | 101594216 | 101594216 | Autism Spectrum Disorders | HiSeq X Ten Single cell Sequencing Cell cloning NextSeq500 |