Multiple Epidermal Growth Factor-like Domains 8

MEGF8
Identifiers
Aliases	MEGF8, C19orf49, CRPT2, EGFL4, SBP1, Multiple Epidermal Growth Factor-like Domains 8, multiple EGF like domains 8
External IDs	OMIM: 604267; MGI: 2446294; HomoloGene: 15988; GeneCards: MEGF8; OMA:MEGF8 - orthologs
Gene location (Human)
Chr.	Chromosome 19 (human)
End	42,378,769 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	25,065,342 bp
RNA expression pattern
	Top expressed in
	middle temporal gyrus; ; prefrontal cortex; ; right frontal lobe; ; tendon of biceps brachii; ; frontal pole; ; primary visual cortex; ; entorhinal cortex; ; right hemisphere of cerebellum; ; superior frontal gyrus; ; parotid gland;
	Top expressed in
	otolith organ; ; utricle; ; otic vesicle; ; internal carotid artery; ; ascending aorta; ; vestibular membrane of cochlear duct; ; Rostral migratory stream; ; external carotid artery; ; epithelium of lens; ; supraoptic nucleus;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	calcium ion binding; protein binding;
Cellular component	integral component of membrane; membrane; extracellular exosome; nucleus;
Biological process	embryonic skeletal system morphogenesis; epiboly involved in gastrulation with mouth forming second; determination of heart left/right asymmetry; limb morphogenesis; embryonic heart tube left/right pattern formation; determination of digestive tract left/right asymmetry; positive regulation of axon extension involved in axon guidance; coronary vasculature development; BMP signaling pathway; craniofacial suture morphogenesis; determination of left/right symmetry; embryonic limb morphogenesis; embryonic heart tube morphogenesis; regulation of gene expression; left/right pattern formation; cell migration involved in gastrulation; fasciculation of sensory neuron axon; negative regulation of smoothened signaling pathway; animal organ morphogenesis; tissue development;
	Sources:Amigo / QuickGO
Orthologs
	1954
	269878
	ENSG00000105429
	ENSMUSG00000045039
	Q7Z7M0
	P60882
	NM_178121; NM_001271938; NM_001410
	NM_001160400
	NP_001258867; NP_001401
	NP_001153872
	Wikidata
View/Edit Human	View/Edit Mouse

Megf8 also known as Multiple Epidermal Growth Factor-like Domains 8, is a protein coding gene that encodes a single pass membrane protein, known to participate in developmental regulation and cellular communication. It is located on chromosome 19 at the 49th open reading frame in humans (19q13.2). There are two isoform constructs known for MEGF8, which differ by a 67 amino acid indel. The isoform 2 splice version (analyzed throughout this page) is 2785 amino acids long, and predicted to be 296.6 kdal in mass. Isoform 1 is composed of 2845 amino acids and predicted to weigh 303.1 kdal. Using BLAST searches, orthologs were found primarily in mammals, but MEGF8 is also conserved in invertebrates and fishes, and rarely in birds, reptiles, and amphibians. A notably important paralog to multiple epidermal growth factor-like domains 8 is ATRNL1 (Attractin-like 1), which is also a single pass transmembrane protein, with several of the same key features and motifs as MEGF8, as indicated by Simple Modular Architecture Research Tool (SMART) which is hosted by the European Molecular Biology Laboratory located in Heidelberg, Germany. MEGF8 has been predicted to be a key player in several developmental processes, such as left-right patterning and limb formation. Currently, researchers have found MEGF8 SNP mutations to be the cause of Carpenter syndrome subtype 2.