Gene
col6a2
- ID
- ZDB-GENE-070501-7
- Name
- collagen, type VI, alpha 2
- Symbol
- col6a2 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Involved in axonogenesis; muscle fiber development; and muscle organ development. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including anterior segment eye; gut; integument; musculature system; and yolk syncytial layer. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Orthologous to human COL6A2 (collagen type VI alpha 2 chain).
- Genome Resources
- Note
- None
- All Expression Data
- 13 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7156276 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- 6 figures from Ramanoudjame et al., 2015
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Bethlem myopathy | Alliance | Bethlem myopathy 1 | 158810 |
Ullrich congenital muscular dystrophy | Alliance | Ullrich congenital muscular dystrophy 1 | 254090 |
?Myosclerosis, congenital | 255600 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Collagen triple helix repeat | von Willebrand factor A-like domain superfamily | von Willebrand factor, type A |
---|---|---|---|---|
UniProtKB:E7FCV8
|
1015 | |||
UniProtKB:A3KNX1
|
310 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
col6a2-201
(1)
|
5960 nt |
Interactions and Pathways
No data available
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-col6a2 | polyclonal | Rabbit |
|
Abgent
|
1 |
Plasmids
- Gene Tree
- Ensembl