Gene
casp2
- ID
- ZDB-GENE-030825-3
- Name
- caspase 2, apoptosis-related cysteine peptidase
- Symbol
- casp2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type endopeptidase activity. Acts upstream of or within intrinsic apoptotic signaling pathway in response to DNA damage and positive regulation of apoptotic process. Predicted to be active in cytoplasm. Is expressed in digestive system; nervous system; and pharyngeal arch. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder. Orthologous to human CASP2 (caspase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Spead et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly | 620653 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR016129 | Peptidase family C14A, His active site |
| Active_site | IPR033139 | Peptidase family C14A, cysteine active site |
| Domain | IPR001309 | Peptidase C14, p20 domain |
| Domain | IPR001315 | CARD domain |
| Domain | IPR002138 | Peptidase C14, caspase non-catalytic subunit p10 |
| Domain | IPR011600 | Peptidase C14, caspase domain |
| Domain | IPR015917 | Peptidase C14A, caspase catalytic domain |
| Domain | IPR035702 | Caspase-2, CARD domain |
| Homologous_superfamily | IPR011029 | Death-like domain superfamily |
| Homologous_superfamily | IPR029030 | Caspase-like domain superfamily |
Domain Details Per Protein
| Protein | Length | CARD domain | Caspase-2, CARD domain | Caspase-like domain superfamily | Death-like domain superfamily | Peptidase C14A, caspase catalytic domain | Peptidase C14, caspase domain | Peptidase C14, caspase non-catalytic subunit p10 | Peptidase C14, p20 domain | Peptidase family C14A, cysteine active site | Peptidase family C14A, His active site |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A288CG41
|
437 | ||||||||||
|
UniProtKB:Q0PKX3
|
435 | ||||||||||
|
UniProtKB:A0A8M9P7T2
|
313 |
Interactions and Pathways
No data available
Plasmids
No data available