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COL2A1 (includes EG:1280) - collagen, type II, alpha 1
Entrez Gene Name: collagen, type II, alpha 1
Entrez GeneID: Human(1280)
, Mouse(12824), Rat(25412)
, Mouse(12824), Rat(25412) Synonyms: ANFH, AOM, CG2A1A, COL11A3, COL2, Col2a, COL2A1 (includes EG:1280), Collagen type II, COLLAGEN TYPE II ALPHA, Collagen type iia, COLLII, Del1, Dmm, M100856, MGC131516, MGC90638, Rgsc856, SEDC, TYPE II COLLAGEN
Gene Summary
- Human (1280): 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]
- Rat (25412): structural component of the cartilage extracellular matrix [RGD, Feb 2006]
Molecular Functions | Biological Process | Cellular Components | Protein Domains | Subcellular Locations | Pathways | Literature References | IPA Extras
Cell Regulation
Biological Process
axon guidance, bone development, cartilage condensation, cartilage development, cartilage development involved in endochondral bone morphogenesis, chondrocyte differentiation, collagen fibril organization, embryonic skeletal joint morphogenesis, endochondral ossification, heart morphogenesis, inner ear development, inner ear morphogenesis, limb morphogenesis, negative regulation of apoptosis, palate development, proteoglycan metabolic process, regulation of gene expression, sensory perception of sound, skeletal system development, skeletal system morphogenesis, tissue homeostasis, visual perception
Cellular Components
basement membrane, collagen, collagen type II, cytoplasm, extracellular matrix, extracellular region, extracellular space, proteinaceous extracellular matrix
Literature References
- 20303877Nathan C, Ding A. Nonresolving inflammation.Cell 2010 Mar 19;140(6):871-82
- 11687497Sternlicht MD, Werb Z. How matrix metalloproteinases regulate cell behavior.Annu Rev Cell Dev Biol 2001;17:463-516
- 9755172Lefebvre V, Li P, de Crombrugghe B. A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene.EMBO J 1998 Oct 1;17(19):5718-33
Molecular Functions
extracellular matrix structural constituent, extracellular matrix structural constituent conferring tensile strength, identical protein binding, platelet-derived growth factor binding
Protein Domains
amino-propeptide domain, Collagen triple helix repeat (20 copies), D-periodic repeat of collagen, extracellular matrix structural constituent, Fibrillar collagen C-terminal domain, nontriple helical telopeptide domain, triple helical domain, von Willebrand factor type C domain
Subcellular Locations
basement membrane, cell-associated matrix, Cytoplasm, extracellular matrix, Extracellular Space, Interterriotorial matrix