ZFIN is now using GRCz12tu for Genomic Data
Gene
col9a2
- ID
- ZDB-GENE-030131-9786
- Name
- procollagen, type IX, alpha 2
- Symbol
- col9a2 Nomenclature History
- Previous Names
-
- cb343 (1)
- sb:cb343
- wu:fa12h02
- wu:fc93e05
- zgc:100808
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Predicted to be involved in extracellular matrix organization. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including axis; head; hypochord; nervous system; and pectoral fin. Human ortholog(s) of this gene implicated in Stickler syndrome; multiple epiphyseal dysplasia 2; and osteochondrodysplasia. Orthologous to human COL9A2 (collagen type IX alpha 2 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 34 figures from 13 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb343 (17 images)
- IMAGE:7135988 (11 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 |
|---|---|---|---|
| multiple epiphyseal dysplasia 2 | Alliance | Epiphyseal dysplasia, multiple, 2 | 600204 |
| ?Stickler syndrome, type V | 614284 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen superfamily | Collagen triple helix repeat |
|---|---|---|---|---|
| UniProtKB:Q1LXU2 | InterPro | 691 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col9a2-201
(1)
|
Ensembl | 3,163 nt | ||
| ncRNA |
col9a2-002
(1)
|
Ensembl | 720 nt | ||
| ncRNA |
col9a2-003
(1)
|
Ensembl | 823 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers