Version 5.4
Homo sapiens Gene: MEGF8
Summary
InnateDB Gene IDBG-54172.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MEGF8
Gene Name multiple EGF-like-domains 8
Synonyms C19orf49; CRPT2; EGFL4; SBP1
Species Homo sapiens
Ensembl Gene ENSG00000105429
Encoded Proteins
IDBP-54174
multiple EGF-like-domains 8
IDBP-54176
multiple EGF-like-domains 8
IDBP-54272
multiple EGF-like-domains 8
IDBP-760178
IDBP-762845
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:42325609-42378769
Strand Forward strand
Band q13.2
Transcripts
ENST00000378073 ENSP00000367313
ENST00000251268 ENSP00000251268
ENST00000334370 ENSP00000334219
ENST00000593647 ENSP00000470620
ENST00000599787
ENST00000593840
ENST00000598762 ENSP00000471370
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
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000045039
View Gene Order
ENSBTAG00000031001
Not yet available
Cross-References
SwissProt Q7Z7M0
TrEMBL
UniProt Splice Variant
Entrez Gene 1954
UniGene Hs.132483 Hs.634360
RefSeq NM_001271938 NM_001410
HUGO HGNC:3233
OMIM 604267
CCDS CCDS62693 CCDS12604
HPRD 10370
IMGT
EMBL AB011541 AC011497 AC024078 AY280362 BC153880
GenPept AAI53881 AAP35084 BAA32469
RNA Seq Atlas 1954

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca