| Entrez Gene ID | 56344 |
|---|---|
| Official Gene Symbol | CABP5 (GeneCards) |
| Full name | calcium binding protein 5 |
| Location | 19q13.33 |
| Other ids | Vega : OTTHUMG00000183139 MIM : 607315 HGNC : HGNC:13714 Ensembl : ENSG00000105507 |
| Other names | CABP3 |
| Summary | The product of this gene belongs to a subfamily of calcium binding proteins, which share similarity to calmodulin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction. Expression of this gene is retina-specific. The mouse homolog of this protein has been shown to express in the inner nuclear layer of the retina, suggested its role in neuronal functioning. The specific function of this gene is unknown. [provided by RefSeq, Oct 2009] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29927 | 56344 | CABP5 | 19 | 48542567 | 48542567 | Autism Spectrum Disorders | NextSeq500 |