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
multiple EGF-like-domains 8
multiple EGF-like-domains 8
multiple EGF-like-domains 8
Protein Structure
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
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt Q7Z7M0
TrEMBL F5GZG7 M0QZL2
UniProt Splice Variant
Entrez Gene 1954
UniGene Hs.132483 Hs.634360
RefSeq NM_001271938 NM_001410
HUGO HGNC:3233
OMIM 604267
CCDS CCDS12604 CCDS62693
HPRD 10370
IMGT
EMBL AB011541 AC011497 AC024078 AY280362 BC153880
GenPept AAI53881 AAP35084 BAA32469
ImmGen MEGF8 (murine)
RNA Seq Atlas 1954