CAA34683.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
29,781 Da
NCBI Official Full Name
COL2A1, partial
NCBI Official Synonym Full Names
collagen, type II, alpha 1
NCBI Protein Information
collagen alpha-1(II) chain; collagen alpha-1(II) chain; chondrocalcin; cartilage collagen; alpha-1 type II collagen; collagen II, alpha-1 polypeptide; arthroophthalmopathy, progressive (Stickler syndrome)
UniProt Protein Name
Collagen alpha-1(II) chain
UniProt Synonym Protein Names
Alpha-1 type II collagenCleaved into the following 2 chains:Collagen alpha-1(II) chain; Chondrocalcin
UniProt Entry Name
CO2A1_HUMAN
NCBI Summary for COL2a1
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]
UniProt Comments for COL2a1
COL2A1: the alpha-1 chain of type II collagen, an extra-cellular matrix protein found in cartilage and the vitreous humor of the eye. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. Chondrocalcin is the calcium binding C-propeptide of this collagen molecule. Defects in this protein 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. There are two transcripts identified for this gene. Belongs to the fibrillar collagen family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted; Extracellular matrix
Chromosomal Location of Human Ortholog: 12q13.11
Cellular Component: extracellular matrix; extracellular space; collagen type II; endoplasmic reticulum lumen; extracellular region; basement membrane
Molecular Function: identical protein binding; metal ion binding; platelet-derived growth factor binding; extracellular matrix structural constituent conferring tensile strength
Biological Process: heart morphogenesis; proteoglycan metabolic process; axon guidance; inner ear morphogenesis; extracellular matrix organization and biogenesis; central nervous system development; collagen fibril organization; palate development; notochord development; collagen catabolic process; limb bud formation; extracellular matrix disassembly; sensory perception of sound; visual perception; regulation of gene expression; cartilage development; tissue homeostasis; chondrocyte differentiation; skeletal development; endochondral ossification; cartilage condensation
Disease: Achondrogenesis, Type Ii; Kniest Dysplasia; Legg-calve-perthes Disease; Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness; Spondyloperipheral Dysplasia; Osteoarthritis With Mild Chondrodysplasia; Stickler Syndrome, Type I; Czech Dysplasia; Platyspondylic Lethal Skeletal Dysplasia, Torrance Type; Otospondylomegaepiphyseal Dysplasia; Spondyloepimetaphyseal Dysplasia, Strudwick Type; Avascular Necrosis Of Femoral Head, Primary; Spondyloepiphyseal Dysplasia Congenita; Stickler Syndrome, Type I, Nonsyndromic Ocular
Research Articles on COL2a1
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Pathways associated with COL2a1 elisa kit
Diseases associated with COL2a1 elisa kit
Organs/Tissues associated with COL2a1 elisa kit
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