Gene
ccm2
- ID
- ZDB-GENE-040712-6
- Name
- CCM2 scaffold protein
- Symbol
- ccm2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Acts upstream of or within several processes, including circulatory system development; heart contraction; and positive regulation of vasculature development. Predicted to be located in cytoplasm. Is expressed in several structures, including cardinal system; heart; intermediate cell mass of mesoderm; liver; and ventricular zone. Used to study cerebral cavernous malformation. Human ortholog(s) of this gene implicated in cerebral cavernous malformation 2. Orthologous to human CCM2 (CCM2 scaffold protein).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 4 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:110233 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 44 figures from 23 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| cerebral cavernous malformation 2 | Alliance | Cerebral cavernous malformations-2 | 603284 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| cerebral cavernous malformation | sd2Tg; y1Tg + CRISPR1-ccm2 + CRISPR2-ccm2 + CRISPR3-ccm2 + CRISPR4-ccm2 | standard conditions | Li et al., 2021 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Cerebral cavernous malformations 2 | Cerebral cavernous malformations 2, harmonin-homology domain | PH-like domain superfamily | PTB/PI domain |
|---|---|---|---|---|---|---|
| UniProtKB:Q6DRP4 | InterPro | 455 | ||||
| UniProtKB:A0AB32T6M1 | InterPro | 449 |
Interactions and Pathways
No data available
Plasmids
No data available