Bos taurus Gene: COL2A1

Summary
InnateDB Gene IDBG-632928.2
Last Modified 2013-04-25   [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
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 0
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 15 interaction(s) predicted by orthology.
 
Predicted by orthology
Total 15 [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0005102 receptor binding
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0042802 identical protein 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:0007165 signal transduction
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:0043066 negative regulation of apoptotic process
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
Cellular Component
GO:0005576 extracellular region
GO:0005578 proteinaceous extracellular matrix
GO:0005581 collagen
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
ENSG00000139219 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSMUSG00000022483 Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_121139 Collagen biosynthesis and modifying enzymes
KEGG
hsa05146  Amoebiasis
hsa04512  ECM-receptor interaction
hsa04510  Focal adhesion
hsa04974  Protein digestion and absorption
INOH
INOH website Integrin signaling pathway
PID BIOCARTA
PID NCI
integrin1_pathway Beta1 integrin cell surface interactions
Integrin_cell_surface_interactions 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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