InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL4A2

Summary

InnateDB Protein

IDBP-50540.6

Last Modified

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

Gene Symbol

COL4A2

Protein Name

collagen, type IV, alpha 2

Synonyms

ICH; POREN2;

Species

Homo sapiens

Ensembl Protein

ENSP00000353654

InnateDB Gene

IDBG-50538 (COL4A2)

Protein Structure

UniProt Annotation

Function

Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen.Canstatin, a cleavage product corresponding to the collagen alpha 2(IV) NC1 domain, possesses both anti-angiogenic and anti-tumor cell activity. It inhibits proliferation and migration of endothelial cells, reduces mitochondrial membrane potential, and induces apoptosis. Specifically induces Fas- dependent apoptosis and activates procaspase-8 and -9 activity. Ligand for alphavbeta3 and alphavbeta5 integrins.

Subcellular Localization

Secreted, extracellular space, extracellular matrix, basement membrane.

Disease Associations

Porencephaly 2 (POREN2) [MIM:614483]: A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles. {ECO:0000269PubMed:22209246}. Note=The disease is caused by mutations affecting the gene represented in this entry.Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. {ECO:0000269PubMed:22209247}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.

Experimentally validated
Total	26 [view]
Protein-Protein	26 [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

Biological Process

GO:0001525	angiogenesis
GO:0006351	transcription, DNA-templated
GO:0007411	axon guidance
GO:0016525	negative regulation of angiogenesis
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030574	collagen catabolic process
GO:0071560	cellular response to transforming growth factor beta stimulus

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005587	collagen type IV trimer
GO:0005604	basement membrane
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix
GO:0043231	intracellular membrane-bounded organelle
GO:0070062	extracellular vesicular exosome