COL8A2

GENE INFORMATION

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Gene name

COL8A2 (HGNC Symbol)

Synonyms

FECD, FECD1, PPCD, PPCD2

Description

Collagen, type VIII, alpha 2 (HGNC Symbol)

Entrez gene summary

This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Chromosome

1

Cytoband

p34.3

Chromosome location (bp)

36095236 - 36125220

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000171812 (version 78.38)

Entrez gene

1296

UniProt

P25067 (UniProt - Evidence at protein level)

neXtProt

NX_P25067

Antibodypedia

COL8A2 antibodies
 

PROTEIN VIEW

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COL8A2-001
 
COL8A2-002
 
COL8A2-003
 
COL8A2-201
 
 
 
 
 

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)

COL8A2-001 ENSP00000305913
ENST00000303143
P25067
Show all »
Show » Show » 703 67.2 Yes 0
COL8A2-002 ENSP00000436433
ENST00000481785
E9PP49
Show all »
Show » Show » 638 60.7 No 0
COL8A2-003 ENSP00000380901
ENST00000397799
P25067
Show all »
Show » Show » 703 67.2 Yes 0
COL8A2-201 ENSP00000484406
ENST00000615990
Q4VAQ0
Show all »
Show » Show » 427 42.5 Yes 0