InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: COL8A2

Summary

InnateDB Gene

IDBG-96300.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL8A2

Gene Name

collagen, type VIII, alpha 2

Synonyms

FECD; FECD1; PPCD; PPCD2

Species

Homo sapiens

Ensembl Gene

ENSG00000171812

Encoded Proteins

IDBP-96302

collagen, type VIII, alpha 2

IDBP-234571

collagen, type VIII, alpha 2

IDBP-599447

collagen, type VIII, alpha 2

IDBP-807387

collagen, type VIII, alpha 2

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes the alpha 2 chain of type VIII collagen. The 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. [provided by RefSeq, Dec 2009]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:36095236-36125220

Strand

Reverse strand

Band

p34.3

Transcripts

ENST00000303143	ENSP00000305913
ENST00000397799	ENSP00000380901
ENST00000481785	ENSP00000436433
ENST00000615990	ENSP00000484406

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0030674	protein binding, bridging

Biological Process

GO:0001525	angiogenesis
GO:0016337	single organismal cell-cell adhesion
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0048593	camera-type eye morphogenesis
GO:0050673	epithelial cell proliferation

Cellular Component

GO:0005576	extracellular region
GO:0005578	proteinaceous extracellular matrix
GO:0005581	collagen trimer
GO:0005604	basement membrane
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix