Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 51475
MIM: 607314
HGNC: 1385
Ensembl: ENSG00000167791
Variants:
dbSNP: 51475
ClinVar: 51475
TCGA: ENSG00000167791
COSMIC: CABP2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000167791 | ENST00000294288 | Q9NPB3 |
| ENSG00000167791 | ENST00000353903 | Q9NPB3 |
| ENSG00000167791 | ENST00000545205 | F5H458 |
| ENSG00000167791 | ENST00000636477 | A0A1B0GW24 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35150090 | 2022 | Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. | 1 |
| 35150090 | 2022 | Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant. | 1 |
| 22981119 | 2012 | A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. | 51 |
| 22981119 | 2012 | A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. | 51 |
Citation
Dessen P
CABP2 (calcium binding protein 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61348/cabp2-(calcium-binding-protein-2)
