Version 5.4
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
IDBP-684657
Collagen alpha-1(II) chain
IDBP-684662
Collagen alpha-1(II) chain
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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
ENSG00000139219
View Gene Order
ENSMUSG00000022483
View Gene Order
Pathways
NETPATH
REACTOME
REACT_206550
Collagen formation pathway
REACT_219927
Non-integrin membrane-ECM interactions pathway
REACT_217282
NCAM signaling for neurite out-growth pathway
REACT_215758
Collagen biosynthesis and modifying enzymes pathway
REACT_204365
Signaling by PDGF pathway
REACT_223425
Extracellular matrix organization pathway
REACT_202514
NCAM1 interactions pathway
REACT_222620
Collagen degradation pathway
REACT_201925
Degradation of the extracellular matrix pathway
REACT_226104
Assembly of collagen fibrils and other multimeric structures pathway
REACT_214353
Signal Transduction pathway
REACT_203140
Axon guidance pathway
REACT_207047
Integrin cell surface interactions pathway
REACT_222217
ECM proteoglycans pathway
REACT_220844
Developmental Biology pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_13552
Integrin cell surface interactions pathway
REACT_16888
Signaling by PDGF pathway
REACT_150180
Assembly of collagen fibrils and other multimeric structures pathway
REACT_121139
Collagen biosynthesis and modifying enzymes pathway
REACT_150401
Collagen degradation pathway
REACT_18312
NCAM1 interactions pathway
REACT_18334
NCAM signaling for neurite out-growth pathway
REACT_111045
Developmental Biology pathway
REACT_118779
Extracellular matrix organization pathway
REACT_118572
Degradation of the extracellular matrix pathway
REACT_18266
Axon guidance pathway
REACT_111102
Signal Transduction pathway
REACT_163906
ECM proteoglycans pathway
REACT_163874
Non-integrin membrane-ECM interactions pathway
REACT_120729
Collagen formation pathway
REACT_199045
Collagen formation pathway
REACT_199046
Assembly of collagen fibrils and other multimeric structures pathway
REACT_236183
NCAM1 interactions pathway
REACT_198984
Collagen biosynthesis and modifying enzymes pathway
REACT_206066
Extracellular matrix organization pathway
REACT_261444
Axon guidance pathway
REACT_216309
Integrin cell surface interactions pathway
REACT_263353
Signaling by PDGF pathway
REACT_188576
Developmental Biology pathway
REACT_196606
ECM proteoglycans pathway
REACT_196607
Non-integrin membrane-ECM interactions pathway
REACT_188257
Signal Transduction pathway
REACT_237796
NCAM signaling for neurite out-growth pathway
REACT_199052
Degradation of the extracellular matrix pathway
REACT_199055
Collagen degradation pathway
KEGG
hsa04512
ECM-receptor interaction pathway
hsa04510
Focal adhesion pathway
hsa05146
Amoebiasis pathway
hsa04974
Protein digestion and absorption pathway
mmu04512
ECM-receptor interaction pathway
mmu04510
Focal adhesion pathway
mmu05146
Amoebiasis pathway
mmu04974
Protein digestion and absorption pathway
INOH
INOH website
Integrin signaling pathway pathway
INOH website
Integrin signaling pathway pathway
PID NCI
integrin1_pathway
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
RNA Seq Atlas 407142

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca