Gene
col2a1b
- ID
- ZDB-GENE-050302-9
- Name
- collagen, type II, alpha 1b
- Symbol
- col2a1b Nomenclature History
- Previous Names
-
- im:6788778
- zmp:0000000538
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within fin morphogenesis. Predicted to be located in extracellular region. 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; central nervous system; epidermal cell; fin fold pectoral fin bud; and skeletal system. Human ortholog(s) of this gene implicated in Stickler syndrome (multiple); bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Orthologous to human COL2A1 (collagen type II alpha 1 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 22 figures from 16 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Durán et al., 2011
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| achondrogenesis type II | Alliance | Achondrogenesis, type II or hypochondrogenesis | 200610 |
| Kniest dysplasia | Alliance | Kniest dysplasia | 156550 |
| Legg-Calve-Perthes disease | Alliance | Legg-Calve-Perthes disease | 150600 |
| multiple epiphyseal dysplasia with myopia and deafness | Alliance | ?Epiphyseal dysplasia, multiple, with myopia and deafness | 132450 |
| spondyloepimetaphyseal dysplasia, Strudwick type | Alliance | SMED Strudwick type | 184250 |
1 - 5 of 16 Show all
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen triple helix repeat | Fibrillar collagen, C-terminal | VWFC domain |
|---|---|---|---|---|---|
| UniProtKB:L0S5L0 | InterPro | 1493 |
1 - 1 of 1
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col2a1b-201
(1)
|
Ensembl | 5,158 nt |
1 - 1 of 1
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance