| Entrez Gene ID | 10060 |
|---|---|
| Official Gene Symbol | ABCC9 (GeneCards) |
| Full name | ATP binding cassette subfamily C member 9 |
| Location | 12p12.1 |
| Other ids | Vega : OTTHUMG00000169094 MIM : 601439 HGNC : HGNC:60 Ensembl : ENSG00000069431 |
| Other names | SUR2, ABC37, CANTU, CMD1O, ATFB12 |
| 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 thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2011] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16115 | 10060 | ABCC9 | 12 | 22105010 | 22105010 | Asymptomatic | HiSeq X Ten |
| 16157 | 10060 | ABCC9 | 12 | 22023527 | 22023527 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 16471 | 10060 | ABCC9 | 12 | 22182897 | 22182897 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 23684 | 10060 | ABCC9 | 12 | 22146735 | 22146735 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
| 34706 | 10060 | ABCC9 | 12 | 22040794 | 22040794 | Delusional Disorder | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning Whole Exome Sequencing Target Amplicon Sequencing Pyrosequencing |