Gene
col5a2b
- ID
- ZDB-GENE-110406-2
- Name
- collagen, type V, alpha 2b
- Symbol
- col5a2b Nomenclature History
- Previous Names
-
- si:rp71-56k2.1
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to be involved in several processes, including collagen-activated tyrosine kinase receptor signaling pathway; extracellular matrix organization; and skin development. Predicted to localize to collagen type I trimer; cytoplasm; and extracellular space. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome. Is expressed in eye. Orthologous to human COL5A2 (collagen type V alpha 2 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- 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 |
|---|---|---|---|
| Ehlers-Danlos syndrome classic type 2 | Alliance | Ehlers-Danlos syndrome, classic type, 2 | 130010 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen superfamily | Collagen triple helix repeat | Fibrillar collagen, C-terminal | VWFC domain |
|---|---|---|---|---|---|
|
UniProtKB:E7FE47
|
1499 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col5a2b-201
(1)
|
Ensembl | 4,896 nt |
Interactions and Pathways
No data available
Plasmids
No data available