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 have extracellular matrix structural constituent. Involved in fin morphogenesis. Predicted to localize to collagen trimer; extracellular matrix; and extracellular space. Human ortholog(s) of this gene implicated in Stickler syndrome; bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness. Is expressed in several structures, including axis; central nervous system; fin; head; and notochord. 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 |
| spondyloepiphyseal dysplasia congenita | Alliance | SED congenita | 183900 |
| spondyloepiphyseal dysplasia Stanescu type | Alliance | Spondyloepiphyseal dysplasia, Stanescu type | 616583 |
| spondyloperipheral dysplasia | Alliance | Spondyloperipheral dysplasia | 271700 |
| Stickler syndrome 1 | Alliance | Stickler syndrome, type I | 108300 |
| Torrance type platyspondylic dysplasia | Alliance | Platyspondylic skeletal dysplasia, Torrance type | 151210 |
| Avascular necrosis of the femoral head | 608805 | ||
| Czech dysplasia | 609162 | ||
| Osteoarthritis with mild chondrodysplasia | 604864 | ||
| Stickler syndrome, type I, nonsyndromic ocular | 609508 | ||
| ?Vitreoretinopathy with phalangeal epiphyseal dysplasia | 619248 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Collagen superfamily | Collagen triple helix repeat | Fibrillar collagen, C-terminal | VWFC domain |
|---|---|---|---|---|---|
|
UniProtKB:L0S5L0
|
1493 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col2a1b-201
(1)
|
Ensembl | 5,158 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance