Gene
col5a2a
- ID
- ZDB-GENE-030616-13
- Name
- collagen, type V, alpha 2a
- Symbol
- col5a2a Nomenclature History
- Previous Names
-
- col5a2l
- im:7038599
- si:by143e18.1
- si:ch211-198b21.5
- si:dz167c3.3
- wu:fa13f03
- wu:fa98d01
- wu:fj05e03
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to collagen type V trimer and extracellular space. Is expressed in several structures, including epidermis; median fin fold; paraxial mesoderm; pectoral fin; and pharyngeal arch. 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
- 23 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7146646 (1 image)
- eu144 (14 images)
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:A0A8M1NTE7
|
1491 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA | col5a2a-001 (1) | Havana | 4,276 nt | ||
| mRNA |
col5a2a-201
(1)
|
Ensembl | 5,063 nt | ||
| ncRNA | col5a2a-002 (1) | Havana | 984 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance