Gene
col8a2
- ID
- ZDB-GENE-060503-488
- Name
- collagen, type VIII, alpha 2
- Symbol
- col8a2 Nomenclature History
- Previous Names
-
- si:ch211-197n10.4
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Fuchs' endothelial dystrophy and posterior polymorphous corneal dystrophy 2. Orthologous to human COL8A2 (collagen type VIII alpha 2 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Xiong et al., 2017
- 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 |
|---|---|---|---|
| Fuchs' endothelial dystrophy | Alliance | Corneal dystrophy, Fuchs endothelial, 1 | 136800 |
| posterior polymorphous corneal dystrophy 2 | Alliance | Corneal dystrophy, posterior polymorphous 2 | 609140 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C1q domain | Collagen/C1q domain-containing | Collagen triple helix repeat | Tumour necrosis factor-like domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:Q1LUA9
|
686 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col8a2-201
(1)
|
Ensembl | 3,045 nt |
Interactions and Pathways
No data available
Plasmids
No data available