InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL5A2

Summary

InnateDB Gene

IDBG-77225.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL5A2

Gene Name

collagen, type V, alpha 2

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000204262

Encoded Proteins

IDBP-77229

collagen, type V, alpha 2

IDBP-810088

collagen, type V, alpha 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 2:189031896-189179879

Strand

Reverse strand

Band

q32.2

Transcripts

ENST00000374866	ENSP00000364000
ENST00000470524
ENST00000618828	ENSP00000482184

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0046332	SMAD binding
GO:0046872	metal ion binding

Biological Process

GO:0001501	skeletal system development
GO:0001503	ossification
GO:0007411	axon guidance
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030574	collagen catabolic process
GO:0043588	skin development
GO:0048592	eye morphogenesis
GO:0071230	cellular response to amino acid stimulus