InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EFEMP2

Summary

InnateDB Protein

IDBP-57902.6

Last Modified

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

Gene Symbol

EFEMP2

Protein Name

EGF containing fibulin-like extracellular matrix protein 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000309953

InnateDB Gene

IDBG-57900 (EFEMP2)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Secreted.

Disease Associations

Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437]: A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The clinical spectrum of autosomal recessive cutis laxa is highly heterogeneous with respect to organ involvement and severity. ARCL1B features include emphysema, lethal pulmonary artery occlusion, aortic aneurysm, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. {ECO:0000269PubMed:16685658, ECO:0000269PubMed:17937443, ECO:0000269PubMed:19664000}. 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 47 experimentally validated interaction(s) in this database.

Experimentally validated
Total	47 [view]
Protein-Protein	47 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004888	transmembrane signaling receptor activity
GO:0005201	extracellular matrix structural constituent
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0007165	signal transduction
GO:0007596	blood coagulation
GO:0030198	extracellular matrix organization

Cellular Component

GO:0005576	extracellular region
GO:0005604	basement membrane
GO:0016020	membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001491 Thrombomodulin
IPR001881 EGF-like calcium-binding domain
IPR002919 Trypsin Inhibitor-like, cysteine rich domain

PFAM

PF00008
PF07645
PF01826

PRINTS

PR00907

PIRSF

SMART

SM00181
SM00179

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt