Gene
cc2d1a
- ID
- ZDB-GENE-110908-1
- Name
- coiled-coil and C2 domain containing 1A
- Symbol
- cc2d1a Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability and intellectual disability. Orthologous to human CC2D1A (coiled-coil and C2 domain containing 1A).
- Genome Resources
-
- Alliance (1)
- Gene:100001297 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Ma et al., 2020
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Ma et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal recessive intellectual developmental disorder 3 | Alliance | Intellectual developmental disorder, autosomal recessive 3 | 608443 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C2 domain | C2 domain superfamily | Coiled-coil and C2 domain-containing protein 1 | Coiled-coil and C2 domain-containing protein 1, DM14 domain | Freud, C2 domain |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M1Q7L9
|
1012 | |||||
|
UniProtKB:E7FAN0
|
1000 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance