Bos taurus Gene: COL2A1
Summary
InnateDB Gene IDBG-632928.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL2A1
Gene Name Collagen alpha-1(II) chain
Synonyms CB11;
Species Bos taurus
Ensembl Gene ENSBTAG00000013155
Encoded Proteins
Collagen alpha-1(II) chain
Collagen alpha-1(II) chain
Protein Structure
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000139219:
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 5:32450298-32481276
Strand Forward strand
Band
Transcripts
ENSBTAT00000017509 ENSBTAP00000017509
ENSBTAT00000017505 ENSBTAP00000017505
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 13 interaction(s) predicted by orthology.
Predicted by orthology
Total 13 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0042802 identical protein binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding
Biological Process
GO:0001501 skeletal system development
GO:0001502 cartilage condensation
GO:0001503 ossification
GO:0001894 tissue homeostasis
GO:0001958 endochondral ossification
GO:0002062 chondrocyte differentiation
GO:0003007 heart morphogenesis
GO:0006029 proteoglycan metabolic process
GO:0007417 central nervous system development
GO:0007601 visual perception
GO:0007605 sensory perception of sound
GO:0010468 regulation of gene expression
GO:0030199 collagen fibril organization
GO:0030903 notochord development
GO:0035108 limb morphogenesis
GO:0042472 inner ear morphogenesis
GO:0048705 skeletal system morphogenesis
GO:0048839 inner ear development
GO:0051216 cartilage development
GO:0060021 palate development
GO:0060174 limb bud formation
GO:0060272 embryonic skeletal joint morphogenesis
GO:0060348 bone development
GO:0060351 cartilage development involved in endochondral bone morphogenesis
GO:0071599 otic vesicle development
GO:0071773 cellular response to BMP stimulus
GO:2001240 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005581 collagen trimer
GO:0005585 collagen type II
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0031012 extracellular matrix
Orthologs
Species
Homo sapiens
Mus musculus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen formation pathway
Non-integrin membrane-ECM interactions pathway
NCAM signaling for neurite out-growth pathway
Collagen biosynthesis and modifying enzymes pathway
Signaling by PDGF pathway
Extracellular matrix organization pathway
NCAM1 interactions pathway
Collagen degradation pathway
Degradation of the extracellular matrix pathway
Assembly of collagen fibrils and other multimeric structures pathway
Signal Transduction pathway
Axon guidance pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Developmental Biology pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Developmental Biology pathway
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
NCAM signaling for neurite out-growth pathway
Degradation of the extracellular matrix pathway
NCAM1 interactions pathway
Axon guidance pathway
Signal Transduction pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Signaling by PDGF pathway
Collagen formation pathway
Collagen formation pathway
Assembly of collagen fibrils and other multimeric structures pathway
NCAM1 interactions pathway
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Axon guidance pathway
Integrin cell surface interactions pathway
Signaling by PDGF pathway
Developmental Biology pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
Signal Transduction pathway
NCAM signaling for neurite out-growth pathway
Degradation of the extracellular matrix pathway
Collagen degradation pathway
KEGG
Focal adhesion pathway
ECM-receptor interaction pathway
Protein digestion and absorption pathway
Amoebiasis pathway
Focal adhesion pathway
ECM-receptor interaction pathway
Protein digestion and absorption pathway
Amoebiasis pathway
INOH
Integrin signaling pathway pathway
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Beta1 integrin cell surface interactions
Cross-References
SwissProt P02459
TrEMBL F1MSR8 Q7M2Y0
UniProt Splice Variant
Entrez Gene 407142
UniGene Bt.21390
RefSeq NM_001001135 NM_001113224
HUGO
OMIM
CCDS
HPRD
IMGT
EMBL AAFC03017082 AAFC03017085 AAFC03056593 AF138883 AF138957 DAAA02012985 DAAA02012986 L28918 X02420
GenPept AAA30436 AAD42346 AAD42347 CAA26269
ImmGen COL2A1 (murine)
RNA Seq Atlas 407142
Transcript Frequencies
Tag Count based mRNA-Abundances across 87 different Tissues (TPM).

Based on Data from Bovine Gene Atlas

Tag Count based mRNA-Abundances across 87 different Tissues (TPM)

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