InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL6A2

Summary

InnateDB Gene

IDBG-6096.6

Last Modified

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

Gene Symbol

COL6A2

Gene Name

collagen, type VI, alpha 2

Synonyms

PP3610

Species

Homo sapiens

Ensembl Gene

ENSG00000142173

Encoded Proteins

IDBP-6098

collagen, type VI, alpha 2

IDBP-6100

collagen, type VI, alpha 2

IDBP-234618

collagen, type VI, alpha 2

IDBP-294203

collagen, type VI, alpha 2

IDBP-371343

collagen, type VI, alpha 2

IDBP-371373

collagen, type VI, alpha 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 21:46098097-46132849

Strand

Forward strand

Band

q22.3

Transcripts

ENST00000300527	ENSP00000300527
ENST00000310645	ENSP00000312529
ENST00000397763	ENSP00000380870
ENST00000409416	ENSP00000387115
ENST00000436769	ENSP00000390418
ENST00000413758	ENSP00000395751
ENST00000460886
ENST00000485591

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:0009749	response to glucose
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:0042383	sarcolemma
GO:0043234	protein complex
GO:0070062	extracellular vesicular exosome