| Variant ID | 13975 |
|---|---|
| Entrez Gene ID | 1244 |
| Gene | ABCC2 (GeneCards) |
| Location | hg19 10:101609119-101609119
hg38 10:99849362-99849362 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.101609119 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0321 |
| CADD Raw score (version 1.3) | 0.10112 (Deleterious) |
| FATHMM raw prediction score | 0.15761 (Tolerated) |
| Deleterious probability by DeFine | 0.3174 (Neutral) |
| Entrez Gene ID | 1244 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ABCC2 (GeneCards) |
| Number of variants in ABCC2 in this database | 6 (view all the variants) |
| Full name | ATP binding cassette subfamily C member 2 |
| Band | 10q24.2 |
| Other IDs | Vega: OTTHUMG00000018895 OMIM: 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] |
| Individual ID | 29217584.05 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |