InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL5A2

Summary

InnateDB Protein

IDBP-77229.6

Last Modified

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

Gene Symbol

COL5A2

Protein Name

collagen, type V, alpha 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000364000

InnateDB Gene

IDBG-77225 (COL5A2)

Protein Structure

UniProt Annotation

Function

Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue- specific matrices (By similarity). {ECO:0000250}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000255PROSITE-ProRule:PRU00793}.

Disease Associations

Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe form of classic Ehlers-Danlos syndrome. {ECO:0000269PubMed:9425231}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ehlers-Danlos syndrome 2 (EDS2) [MIM:130010]: Mild form of classic Ehlers-Danlos syndrome. {ECO:0000269PubMed:9783710}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000885 Fibrillar collagen, C-terminal
IPR001007 von Willebrand factor, type C
IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
IPR008160 Collagen triple helix repeat

PFAM

PF01410
PF00093
PF00147
PF01391

PRINTS

PIRSF

SMART

SM00038
SM00214
SM00186

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P05997