Gene
col6a3
- ID
- ZDB-GENE-070501-8
- Name
- collagen, type VI, alpha 3
- Symbol
- col6a3 Nomenclature History
- Previous Names
-
- wu:fb06e12
- wu:fs74g09
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have serine-type endopeptidase inhibitor activity. Involved in axon extension and motor neuron axon guidance. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy; dystonia 27; and muscular dystrophy. Is expressed in head. Orthologous to human COL6A3 (collagen type VI alpha 3 chain).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 5 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
dystonia 27 | Alliance | Dystonia 27 | 616411 |
Bethlem myopathy 1C | 620726 | ||
Ullrich congenital muscular dystrophy 1C | 620728 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Ullrich congenital muscular dystrophy | AB + MO1-col6a3 | standard conditions | Telfer et al., 2010 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein | Length |
---|---|
UniProtKB:A0A8M9Q514
|
10897 |
UniProtKB:A0A8M6Z141
|
10924 |
UniProtKB:A0A8M6Z0G5
|
10986 |
UniProtKB:A0A8M9QFY4
|
10959 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
col6a3-203
(1)
|
914 nt | |
mRNA |
col6a3-205
(1)
|
11949 nt | |
mRNA |
col6a3-206
(1)
|
1209 nt | |
mRNA |
col6a3-207
(1)
|
2697 nt | |
ncRNA |
col6a3-003
(1)
|
849 nt | |
ncRNA |
col6a3-005
(1)
|
894 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance