| Entrez Gene ID | 813 |
|---|---|
| Official Gene Symbol | CALU (GeneCards) |
| Full name | calumenin |
| Location | 7q32.1 |
| Other ids | Vega : OTTHUMG00000158274 MIM : 603420 HGNC : HGNC:1458 Ensembl : ENSG00000128595 |
| Other names | None |
| Summary | The product of this gene is a calcium-binding protein localized in the endoplasmic reticulum (ER) and it is involved in such ER functions as protein folding and sorting. This protein belongs to a family of multiple EF-hand proteins (CERC) that include reticulocalbin, ERC-55, and Cab45 and the product of this gene. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 11549 | 813 | CALU | 7 | 128395966 | 128395966 | Xeroderma Pigmentosum | HiSeq X Ten |