COL6A3

GENE INFORMATION

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Gene name

COL6A3

Synonyms

Description

Collagen, type VI, alpha 3 (HGNC Symbol)

Entrez gene summary

This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. 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 the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]

Chromosome

2

Cytoband

q37.3

Chromosome location (bp)

237324003 - 237414375

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000163359 (version 78.38)

Entrez gene

1293

UniProt

P12111 (UniProt - Evidence at protein level)

neXtProt

NX_P12111

Antibodypedia

COL6A3 antibodies
 

PROTEIN VIEW

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COL6A3-001
 
COL6A3-002
 
COL6A3-003
 
COL6A3-004
 
COL6A3-008
 
COL6A3-011
 
COL6A3-012
 
COL6A3-201
 
COL6A3-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

COL6A3-001 ENSP00000295550
ENST00000295550
P12111
Show all »
Show » Show » 3177 343.7 Yes 0
COL6A3-002 ENSP00000375861
ENST00000392004
P12111
Show all »
Show » Show » 1237 134.7 Yes 0
COL6A3-003 ENSP00000375860
ENST00000392003
P12111
Show all »
Show » Show » 1036 113.2 Yes 0
COL6A3-004 ENSP00000460277
ENST00000491233
I3L392
Show all »
Show » 173 18.6 No 0
COL6A3-008 ENSP00000389539
ENST00000433762
C9JNG9
Show all »
Show » 708 77.2 Yes 0
COL6A3-011 ENSP00000386844
ENST00000409809
P12111
Show all »
Show » Show » 2971 321.4 Yes 0
COL6A3-012 ENSP00000418285
ENST00000472056
P12111
Show all »
Show » Show » 2570 278.2 Yes 0
COL6A3-201 ENSP00000315609
ENST00000347401
Show » Show » 2569 278.1 Yes 0
COL6A3-202 ENSP00000315873
ENST00000353578
P12111
Show all »
Show » Show » 2971 321.4 Yes 0