| Entrez Gene ID | 8650 |
|---|---|
| Official Gene Symbol | NUMB (GeneCards) |
| Full name | NUMB, endocytic adaptor protein |
| Location | 14q24.2-q24.3 |
| Other ids | Vega : OTTHUMG00000171436 MIM : 603728 HGNC : HGNC:8060 Ensembl : ENSG00000133961 |
| Other names | S171, C14orf41, c14_5527 |
| Summary | The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
Found 2 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 18253 | 8650 | NUMB | 14 | 73802520 | 73802520 | Asymptomatic | HiSeq X Ten |
| 18628 | 8650 | NUMB | 14 | 73915928 | 73915928 | Cockayne syndrome | HiSeq X Ten |