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
collagen, type V, alpha 2
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
Cellular Component
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005588 collagen type V
GO:0005788 endoplasmic reticulum lumen
GO:0031012 extracellular matrix
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
Developmental Biology pathway
Collagen biosynthesis and modifying enzymes pathway
Extracellular matrix organization pathway
NCAM signaling for neurite out-growth pathway
Degradation of the extracellular matrix pathway
Syndecan interactions pathway
NCAM1 interactions pathway
Axon guidance pathway
Signal Transduction pathway
Integrin cell surface interactions pathway
ECM proteoglycans pathway
Non-integrin membrane-ECM interactions pathway
Assembly of collagen fibrils and other multimeric structures pathway
Collagen degradation pathway
Signaling by PDGF pathway
Collagen formation 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
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_000393
HUGO
OMIM
CCDS CCDS33350
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas