InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: MEGF8

Summary

InnateDB Protein

IDBP-54176.6

Last Modified

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

Gene Symbol

MEGF8

Protein Name

multiple EGF-like-domains 8

Synonyms

C19orf49; CRPT2; EGFL4; SBP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000251268

InnateDB Gene

IDBG-54172 (MEGF8)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Carpenter syndrome 2 (CRPT2) [MIM:614976]: An autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease. {ECO:0000269PubMed:23063620}. 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 6 experimentally validated interaction(s) in this database.

Experimentally validated
Total	6 [view]
Protein-Protein	6 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004872	receptor activity
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0003143	embryonic heart tube morphogenesis
GO:0007275	multicellular organismal development
GO:0010468	regulation of gene expression
GO:0030326	embryonic limb morphogenesis
GO:0030509	BMP signaling pathway
GO:0035108	limb morphogenesis
GO:0042074	cell migration involved in gastrulation
GO:0048704	embryonic skeletal system morphogenesis
GO:0048842	positive regulation of axon extension involved in axon guidance
GO:0055113	epiboly involved in gastrulation with mouth forming second
GO:0060971	embryonic heart tube left/right pattern formation
GO:0060972	left/right pattern formation
GO:0061371	determination of heart left/right asymmetry
GO:0071907	determination of digestive tract left/right asymmetry
GO:0097094	craniofacial suture morphogenesis
GO:0097155	fasciculation of sensory neuron axon

Cellular Component

GO:0005634	nucleus
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR000859 CUB domain
IPR001881 EGF-like calcium-binding domain
IPR002049 EGF-like, laminin
IPR002165 Plexin
IPR011043 Galactose oxidase/kelch, beta-propeller
IPR016201 Plexin-like fold

PFAM

PF00008
PF00431
PF07645
PF00053
PF01437

PRINTS

PIRSF

SMART

SM00181
SM00042
SM00179
SM00180
SM00423

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q7Z7M0