CASP2 Chromosome 7
Caspase 2
Upload your DNA to see your personal genotypes for variants in CASP2.
What This Gene Does
This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Caspases mediate cellular apoptosis through the proteolytic cleavage of specific protein substrates. The encoded protein may function in stress-induced cell death pathways, cell cycle maintenance, and the suppression of tumorigenesis. Increased expression of this gene may play a role in neurodegenerative disorders including Alzheimer's disease, Huntington's disease and temporal lobe epilepsy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Gene Info
Gene Group
"Caspases|Protein phosphatase 1 regulatory subunits|Caspase recruitment domain containing|Caspase-2 PIDDosome complex"
Locus Type
gene with protein product
Location
7q34
Ensembl
ENSG00000106144
Associated Conditions (4)
Inborn genetic diseases
Intellectual developmental disorder
autosomal recessive 80
with variant lissencephaly
Key Variants
RS150852779
Conflicting classifications of pathogenicity
Health Risk
RS1801677859
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1801868524
Pathogenic
Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly
Health Risk
RS2486983740
Pathogenic
Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 80
Health Risk
RS2486983838
Pathogenic
Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 80
Health Risk
RS910498292
Pathogenic
Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 80
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150852779 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1801677859 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1801868524 | Health Risk | Pathogenic | Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly |
| RS2486983740 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 80 |
| RS2486983838 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 80 |
| RS910498292 | Health Risk | Pathogenic | Inborn genetic diseases, Intellectual developmental disorder, autosomal recessive 80 |