InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL8A2

Summary

InnateDB Protein

IDBP-96302.6

Last Modified

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

Gene Symbol

COL8A2

Protein Name

collagen, type VIII, alpha 2

Synonyms

FECD; FECD1; PPCD; PPCD2;

Species

Homo sapiens

Ensembl Protein

ENSP00000305913

InnateDB Gene

IDBG-96300 (COL8A2)

Protein Structure

UniProt Annotation

Function

Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis (By similarity). {ECO:0000250}.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane.

Disease Associations

Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]: A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. {ECO:0000269PubMed:11689488}. Note=The disease is caused by mutations affecting the gene represented in this entry.Corneal dystrophy, posterior polymorphous, 2 (PPCD2) [MIM:609140]: A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. {ECO:0000269PubMed:11689488}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea and sclera, and in the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells, glomerular endothelial cells, and tubular epithelial cells. Also expressed in mast cells, and in astrocytes during the repair process. Expressed in Descemet's membrane. {ECO:0000269PubMed:10686422, ECO:0000269PubMed:17888087}.

Comments

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

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