Homo sapiens Gene: COL1A2
Summary
InnateDB Gene IDBG-27319.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol COL1A2
Gene Name collagen, type I, alpha 2
Synonyms OI4;
Species Homo sapiens
Ensembl Gene ENSG00000164692
Encoded Proteins
collagen, type I, alpha 2
collagen, type I, alpha 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:94394561-94431232
Strand Forward strand
Band q21.3
Transcripts
ENST00000297268 ENSP00000297268
ENST00000488298
ENST00000473573
ENST00000497316
ENST00000461525
ENST00000467931
ENST00000481570
ENST00000469732
ENST00000478215
ENST00000488121
ENST00000492110
ENST00000464916
ENST00000620463 ENSP00000477719
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 22 [view]
Protein-Protein 12 [view]
Protein-DNA 10 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005201 extracellular matrix structural constituent
GO:0005515 protein binding
GO:0030674 protein binding, bridging
GO:0042802 identical protein binding
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048407 platelet-derived growth factor binding
Biological Process
GO:0001501 skeletal system development
GO:0001568 blood vessel development
GO:0007179 transforming growth factor beta receptor signaling pathway
GO:0007266 Rho protein signal transduction
GO:0007596 blood coagulation
GO:0008217 regulation of blood pressure
GO:0022617 extracellular matrix disassembly
GO:0030168 platelet activation
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030574 collagen catabolic process
GO:0042476 odontogenesis
GO:0043589 skin morphogenesis
GO:0050900 leukocyte migration
GO:0070208 protein heterotrimerization
GO:0071230 cellular response to amino acid stimulus
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005584 collagen type I
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
Degradation of the extracellular matrix pathway
Syndecan interactions pathway
Platelet activation, signaling and aggregation pathway
Binding and Uptake of Ligands by Scavenger Receptors pathway
Scavenging by Class A Receptors pathway
Platelet Adhesion to exposed collagen pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
GPVI-mediated activation cascade pathway
Crosslinking of collagen fibrils pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Collagen formation pathway
Cell surface interactions at the vascular wall pathway
Anchoring fibril formation pathway
Hemostasis pathway
KEGG
Focal adhesion pathway
ECM-receptor interaction pathway
Protein digestion and absorption pathway
Amoebiasis pathway
INOH
Integrin signaling pathway pathway
PID BIOCARTA
PID NCI
Beta1 integrin cell surface interactions
Validated transcriptional targets of AP1 family members Fra1 and Fra2
VEGFR3 signaling in lymphatic endothelium
Validated targets of C-MYC transcriptional repression
AP-1 transcription factor network
Endothelins
C-MYB transcription factor network
IL4-mediated signaling events
Regulation of nuclear SMAD2/3 signaling
Beta3 integrin cell surface interactions
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.489142 Hs.629269
RefSeq NM_000089
HUGO
OMIM
CCDS CCDS34682
HPRD 00363
IMGT
EMBL
GenPept
RNA Seq Atlas