Gene
col2a1a
- ID
- ZDB-GENE-980526-192
- Name
- collagen, type II, alpha 1a
- Symbol
- col2a1a Nomenclature History
- Previous Names
-
- col2a1
- coll2a1
- fb38c06
- fc10c01
- wu:fb38c06 (1)
- wu:fc10c01
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent. Acts upstream of or within axon guidance; embryonic skeletal system development; and notochord development. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix and extracellular space. Is expressed in several structures, including endoderm; fin; floor plate; head; 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
- 211 figures from 167 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 |
|---|---|---|---|
| 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 |
| spondylometaphyseal dysplasia Algerian type | Alliance | Spondylometaphyseal dysplasia, Algerian type | 184253 |
| 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:Q2LDA1
|
1491 | ||||
|
UniProtKB:B3DLK0
|
1421 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
col2a1a-201
(1)
|
Ensembl | 5,723 nt | ||
| mRNA |
col2a1a-202
(1)
|
Ensembl | 5,937 nt |
Interactions and Pathways
No data available
Plasmids
No data available