InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: FREM2

Summary

InnateDB Protein

IDBP-25956.6

Last Modified

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

Gene Symbol

FREM2

Protein Name

FRAS1 related extracellular matrix protein 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000280481

InnateDB Gene

IDBG-25954 (FREM2)

Protein Structure

UniProt Annotation

Function

Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia. May be required for epidermal adhesion. {ECO:0000269PubMed:15838507}.

Subcellular Localization

Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}; Extracellular side {ECO:0000305}.

Disease Associations

Fraser syndrome (FRASS) [MIM:219000]: Multisystem malformation usually comprising cryptophthalmos, cutaneous syndactyly, ear abnormalities, renal agenesis and congenital heart defects. {ECO:0000269PubMed:15838507}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	5 [view]
Protein-Protein	2 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding

Biological Process

GO:0002009	morphogenesis of an epithelium
GO:0007154	cell communication
GO:0007156	homophilic cell adhesion
GO:0048839	inner ear development

Cellular Component

GO:0005604	basement membrane
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0070062	extracellular vesicular exosome