ZFIN is now using GRCz12tu for Genomic Data
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
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be involved in extracellular matrix organization. Predicted to be active in extracellular matrix. Is expressed in several structures, including cardiovascular system; digestive system; head; muscle; and spleen. Used to study Ullrich congenital muscular dystrophy. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); chronic kidney disease; dystonia 27; muscular dystrophy (multiple); and primary open angle glaucoma. Orthologous to human COL6A3 (collagen type VI alpha 3 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 4 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 |
|---|---|---|---|
| Bethlem myopathy 1C | Alliance | Bethlem myopathy 1C | 620726 |
| dystonia 27 | Alliance | Dystonia 27 | 616411 |
| Ullrich congenital muscular dystrophy 1C | Alliance | 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 | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0A8M9Q514 | InterPro | 10897 |
| UniProtKB:A0A8M6Z141 | InterPro | 10924 |
| UniProtKB:A0A8M6Z0G5 | InterPro | 10986 |
| UniProtKB:A0A8M9QFY4 | InterPro | 10959 |
| UniProtKB:A0AB32TJA3 | InterPro | 12763 |
| UniProtKB:A0AB32TMZ5 | InterPro | 12825 |
| UniProtKB:A0AB32U315 | InterPro | 12798 |
| UniProtKB:A0AC58GGC5 | InterPro | 13624 |
| UniProtKB:A0AC58GGC8 | InterPro | 13426 |
| UniProtKB:A0AC58GGD6 | InterPro | 13818 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col6a3-201
(1)
|
Ensembl | 8,565 nt | ||
| mRNA |
col6a3-203
(1)
|
Ensembl | 914 nt | ||
| mRNA |
col6a3-205
(1)
|
Ensembl | 11,949 nt | ||
| mRNA |
col6a3-206
(1)
|
Ensembl | 1,209 nt | ||
| mRNA |
col6a3-207
(1)
|
Ensembl | 2,697 nt | ||
| ncRNA |
col6a3-003
(1)
|
Ensembl | 849 nt | ||
| ncRNA |
col6a3-005
(1)
|
Ensembl | 894 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers
- Comparative Orthology
- Alliance