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: 6650
MIM: 603267
HGNC: 11182
Ensembl: ENSG00000103326
Variants:
dbSNP: 6650
ClinVar: 6650
TCGA: ENSG00000103326
COSMIC: CAPN15
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Degradation of the extracellular matrix | REACTOME | R-HSA-1474228 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37596828 | 2023 | Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. | 1 |
| 37596828 | 2023 | Novel association of Dandy-Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome. | 1 |
| 33410501 | 2021 | Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. | 4 |
| 33410501 | 2021 | Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay. | 4 |
| 32885237 | 2020 | Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. | 7 |
| 32885237 | 2020 | Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits. | 7 |
Citation
Dessen P
CAPN15 (calpain 15)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61409/capn15-(calpain-15)
