COL6A2

GENE INFORMATION

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Gene name

COL6A2

Synonyms

Description

Collagen, type VI, alpha 2 (HGNC Symbol)

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]

Chromosome

21

Cytoband

q22.3

Chromosome location (bp)

46098097 - 46132849

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000142173 (version 78.38)

Entrez gene

1292

UniProt

P12110 (UniProt - Evidence at protein level)

neXtProt

NX_P12110

Antibodypedia

COL6A2 antibodies
 

PROTEIN VIEW

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COL6A2-001
 
COL6A2-002
 
COL6A2-003
 
COL6A2-004
 
COL6A2-005
 
COL6A2-201
 
 
 
 
 

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)

COL6A2-001 ENSP00000300527
ENST00000300527
P12110
Show all »
Show » Show » 1019 108.6 Yes 0
COL6A2-002 ENSP00000380870
ENST00000397763
P12110
Show all »
Show » Show » 918 97.4 Yes 0
COL6A2-003 ENSP00000387115
ENST00000409416
P12110
Show all »
Show » Show » 828 87.3 Yes 0
COL6A2-004 ENSP00000390418
ENST00000436769
C9JH44
Show all »
Show » 180 20 Yes 0
COL6A2-005 ENSP00000395751
ENST00000413758
H7C0M5
Show all »
Show » 250 25.5 No 0
COL6A2-201 ENSP00000312529
ENST00000310645
P12110
Show all »
Show » Show » 828 87.3 Yes 0