COL2A1

GENE INFORMATION

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Gene name

COL2A1 (HGNC Symbol)

Synonyms

AOM, SEDC, STL1

Description

Collagen, type II, alpha 1 (HGNC Symbol)

Entrez gene summary

This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]

Chromosome

12

Cytoband

q13.11

Chromosome location (bp)

47972965 - 48004486

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000139219 (version 78.38)

Entrez gene

1280

UniProt

P02458 (UniProt - Evidence at protein level)

neXtProt

NX_P02458

Antibodypedia

COL2A1 antibodies
 

PROTEIN VIEW

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COL2A1-001
 
COL2A1-008
 
 
 
 
 

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)

COL2A1-001 ENSP00000369889
ENST00000380518
P02458
Show all »
Show » Show » 1487 141.8 Yes 0
COL2A1-008 ENSP00000338213
ENST00000337299
P02458
Show all »
Show » Show » 1418 134.4 Yes 0