| Entrez Gene ID | 153241 |
|---|---|
| Official Gene Symbol | CEP120 (GeneCards) |
| Full name | centrosomal protein 120 |
| Location | 5q23.2 |
| Other ids | Vega : OTTHUMG00000128922 MIM : 613446 HGNC : HGNC:26690 Ensembl : ENSG00000168944 |
| Other names | JBTS31, SRTD13, CCDC100 |
| Summary | This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 7553 | 153241 | CEP120 | 5 | 122842970 | 122842970 | Asymptomatic | HiSeq 2000 |
| 8613 | 153241 | CEP120 | 5 | 122700568 | 122700568 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 8687 | 153241 | CEP120 | 5 | 122696429 | 122696429 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |