Entity Details

Primary name MEGF8
Entity type gene
Source Source Link

Details

PrimaryID1954
RefseqGeneNG_033030
SymbolMEGF8
Namemultiple EGF like domains 8
Chromosome19
Location19q13.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-06-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsMEGF8_HUMAN

GO terms

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GOName
GO:0003143 embryonic heart tube morphogenesis
GO:0005509 calcium ion binding
GO:0005634 nucleus
GO:0009887 animal organ morphogenesis
GO:0009888 tissue development
GO:0010468 regulation of gene expression
GO:0016021 integral component of membrane
GO:0030326 embryonic limb morphogenesis
GO:0030509 BMP signaling pathway
GO:0035108 limb morphogenesis
GO:0042074 cell migration involved in gastrulation
GO:0045879 negative regulation of smoothened signaling pathway
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:0060976 coronary vasculature development
GO:0061371 determination of heart left/right asymmetry
GO:0070062 extracellular exosome
GO:0071907 determination of digestive tract left/right asymmetry
GO:0097094 craniofacial suture morphogenesis
GO:0097155 fasciculation of sensory neuron axon

Diseases

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Disease IDSourceNameDescription
614976 OMIMCarpenter syndrome 2 (CRPT2)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. The disease is caused by variants affecting the gene represented in this entry.

Interactions

17 interactions