| Entrez Gene ID | 23261 |
|---|---|
| Official Gene Symbol | CAMTA1 (GeneCards) |
| Full name | calmodulin binding transcription activator 1 |
| Location | 1p36.31-p36.23 |
| Other ids | Vega : OTTHUMG00000001212 MIM : 611501 HGNC : HGNC:18806 Ensembl : ENSG00000171735 |
| Other names | CANPMR |
| Summary | The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 960 | 23261 | CAMTA1 | 1 | 7798239 | 7798239 | Human Skin Fibroblasts | HiSeq 2500 |
| 1995 | 23261 | CAMTA1 | 1 | 6916047 | 6916047 | Asymptomatic | HiSeq 2500 HiSeq X Ten |
| 24349 | 23261 | CAMTA1 | 1 | 7187349 | 7187349 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |
| 24434 | 23261 | CAMTA1 | 1 | 7266019 | 7266019 | Asymptomatic | HiSeq 2500 HiSeq X Ten Single cell Sequencing Cell cloning |