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 extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Ehlers-Danlos syndrome. Is expressed in several structures, including epidermis; median fin fold; paraxial mesoderm; pectoral fin; and pharyngeal arch. Orthologous to human COL5A2 (collagen type V alpha 2 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 24 figures from 8 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