COL1A2

GENE INFORMATION

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Gene name

COL1A2 (HGNC Symbol)

Synonyms

OI4

Description

Collagen, type I, alpha 2 (HGNC Symbol)

Entrez gene summary

This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Chromosome

7

Cytoband

q21.3

Chromosome location (bp)

94394561 - 94431232

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000164692 (version 78.38)

Entrez gene

1278

UniProt

P08123 (UniProt - Evidence at protein level)

neXtProt

NX_P08123

Antibodypedia

COL1A2 antibodies
 

PROTEIN VIEW

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COL1A2-001
 
COL1A2-201
 
 
 
 
 

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)

COL1A2-001 ENSP00000297268
ENST00000297268
P08123
Show all »
Show » Show » 1366 129.3 Yes 0
COL1A2-201 ENSP00000477719
ENST00000620463
A2TIK1
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Show » Show » 1364 129.2 Yes 0