InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-27321

collagen, type I, alpha 2

IDBP-812229

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