COL8A2

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]

Description

Collagen type VIII alpha 2 chain

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus

Predicted location

Intracellular, Secreted to extracellular matrix

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Kim et al 2014)

Chromosome

1 (36095239 - 36125222)

Ensembl ID

ENSG00000171812  (ver. 103.38)

Orthologs

Mouse Col8a2: ENSMUSG00000056174

UniProt

P25067

neXtProt

NX_P25067

Human splice variants
Mouse splice variants

Protein structure