CAPN15 Chromosome 16
Calpain 15
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What This Gene Does
This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-protein interactions during visual system development. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers RANBP2-type|Calpains|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000103326
Associated Conditions (4)
CAPN15-related disorder
Oculogastrointestinal-neurodevelopmental syndrome
Adrenocortical carcinoma
hereditary
Key Variants
RS1441582052
Conflicting classifications of pathogenicity
CAPN15-related disorder, Oculogastrointestinal-neurodevelopmental syndrome, Adrenocortical carcinoma
Health Risk
RS532420248
Conflicting classifications of pathogenicity
Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
Health Risk
RS2142072159
Pathogenic
Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
Health Risk
RS2142084042
Pathogenic
Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
Health Risk
RS2142085042
Pathogenic
Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
Health Risk
RS2142086271
Pathogenic
Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
Health Risk
RS762523863
Pathogenic
Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1441582052 | Health Risk | Conflicting classifications of pathogenicity | CAPN15-related disorder, Oculogastrointestinal-neurodevelopmental syndrome, Adrenocortical carcinoma |
| RS532420248 | Health Risk | Conflicting classifications of pathogenicity | Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome |
| RS2142072159 | Health Risk | Pathogenic | Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome |
| RS2142084042 | Health Risk | Pathogenic | Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome |
| RS2142085042 | Health Risk | Pathogenic | Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome |
| RS2142086271 | Health Risk | Pathogenic | Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome |
| RS762523863 | Health Risk | Pathogenic | Oculogastrointestinal-neurodevelopmental syndrome, Oculogastrointestinal-neurodevelopmental syndrome |