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 be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in extracellular matrix organization. Predicted to be located in extracellular region. Predicted to be part of collagen type V trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in eye. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome and Ehlers-Danlos syndrome classic type 2. 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