| Entrez Gene ID | 7164 |
|---|---|
| Official Gene Symbol | TPD52L1 (GeneCards) |
| Full name | tumor protein D52 like 1 |
| Location | 6q22.31 |
| Other ids | Vega : OTTHUMG00000015505 MIM : 604069 HGNC : HGNC:12006 Ensembl : ENSG00000111907 |
| Other names | D53 |
| Summary | This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 9296 | 7164 | TPD52L1 | 6 | 125557934 | 125557934 | Asymptomatic | HiSeq X Ten |
| 10060 | 7164 | TPD52L1 | 6 | 125502448 | 125502448 | Cockayne syndrome | HiSeq X Ten |
| 26155 | 7164 | TPD52L1 | 6 | 125553767 | 125553767 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |