Aliases for COL2A1 Gene
- Collagen Type II Alpha 1 Chain 2 3 5
- Arthroophthalmopathy, Progressive (Stickler Syndrome) 2 3
- Collagen Alpha-1(II) Chain 3 4
- Collagen, Type II, Alpha 1 2 3
- Alpha-1 Type II Collagen 3 4
- Collagen, Type II, Alpha 1 (Primary Osteoarthritis, Spondyloepiphyseal Dysplasia, Congenital) 2
- Collagen II, Alpha-1 Polypeptide 3
External Ids for COL2A1 Gene
Previous HGNC Symbols for COL2A1 Gene
Previous GeneCards Identifiers for COL2A1 Gene
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for COL2A1 Gene
COL2A1 (Collagen Type II Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL2A1 include Kniest Dysplasia and Spondyloepimetaphyseal Dysplasia, Strudwick Type. Among its related pathways are ERK Signaling and Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and platelet-derived growth factor binding. An important paralog of this gene is COL1A1.
UniProtKB/Swiss-Prot Summary for COL2A1 Gene
Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.