| Entrez Gene ID | 8476 |
|---|---|
| Official Gene Symbol | CDC42BPA (GeneCards) |
| Full name | CDC42 binding protein kinase alpha |
| Location | 1q42.13 |
| Other ids | Vega : OTTHUMG00000037618 MIM : 603412 HGNC : HGNC:1737 Ensembl : ENSG00000143776 |
| Other names | MRCK, MRCKA, PK428 |
| Summary | The protein encoded by this gene is a member of the Serine/Threonine protein kinase family. This kinase contains multiple functional domains. Its kinase domain is highly similar to that of the myotonic dystrophy protein kinase (DMPK). This kinase also contains a Rac interactive binding (CRIB) domain, and has been shown to bind CDC42. It may function as a CDC42 downstream effector mediating CDC42 induced peripheral actin formation, and promoting cytoskeletal reorganization. Multiple alternatively spliced transcript variants have been described, and the full-length nature of two of them has been reported. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 1868 | 8476 | CDC42BPA | 1 | 227233740 | 227233740 | Asymptomatic | HiSeq X Ten |
| 2276 | 8476 | CDC42BPA | 1 | 227210928 | 227210928 | Asymptomatic | HiSeq X Ten |
| 2716 | 8476 | CDC42BPA | 1 | 227421420 | 227421420 | Cockayne syndrome | HiSeq X Ten |
| 24609 | 8476 | CDC42BPA | 1 | 227411140 | 227411140 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |