InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL6A2

Summary

InnateDB Protein

IDBP-6100.7

Last Modified

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

Gene Symbol

COL6A2

Protein Name

collagen, type VI, alpha 2

Synonyms

PP3610;

Species

Homo sapiens

Ensembl Protein

ENSP00000312529

InnateDB Gene

IDBG-6096 (COL6A2)

Protein Structure

UniProt Annotation

Function

Collagen VI acts as a cell-binding protein.

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000269PubMed:8305732}. Membrane {ECO:0000269PubMed:8305732}; Peripheral membrane protein {ECO:0000269PubMed:8305732}. Note=Recruited on membranes by CSPG4.

Disease Associations

Bethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant proximal myopathy characterized by early childhood onset and joint contractures most frequently affecting the elbows and ankles. {ECO:0000269PubMed:11865138, ECO:0000269PubMed:15689448, ECO:0000269PubMed:17886299, ECO:0000269PubMed:8782832}. Note=The disease is caused by mutations affecting the gene represented in this entry.Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is a congenital myopathy characterized by muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course is more severe than in Bethlem myopathy. {ECO:0000269PubMed:15563506, ECO:0000269PubMed:15689448}. Note=The disease is caused by mutations affecting the gene represented in this entry.Myosclerosis autosomal recessive (MYOSAR) [MIM:255600]: A condition characterized by chronic inflammation of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures. 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 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0007155	cell adhesion
GO:0007411	axon guidance
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0070208	protein heterotrimerization

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005581	collagen trimer
GO:0005615	extracellular space
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix
GO:0043234	protein complex
GO:0070062	extracellular vesicular exosome