| Entrez Gene ID | 9452 |
|---|---|
| Official Gene Symbol | ITM2A (GeneCards) |
| Full name | integral membrane protein 2A |
| Location | Xq21.1 |
| Other ids | Vega : OTTHUMG00000021900 MIM : 300222 HGNC : HGNC:6173 Ensembl : ENSG00000078596 |
| Other names | E25A, BRICD2A |
| Summary | This gene encodes a type II membrane protein that belongs to the ITM2 family. Studies in mouse suggest that it may be involved in osteo- and chondrogenic differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 22293 | 9452 | ITM2A | X | 78937513 | 78937513 | Cockayne syndrome | HiSeq X Ten |