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
Expression
All Expression Data
175 figures from 140 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
5 figures from 3 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col2a1a Human Ortholog
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 sydrome, type I, nonsyndromic ocular 609508
?Vitreoretinopathy with phalangeal epiphyseal dysplasia 619248
Associated With col2a1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000885 Fibrillar collagen, C-terminal
Domain IPR001007 VWFC domain
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations