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FLASH GENE

Symbol

MEGF10

contributors: mct/npt/pgu - updated : 09-05-2012

HGNC name	multiple EGF-like-domains 10
HGNC id	29634

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EMARDD myopathy, areflexia, respiratory distress, and dysphagia
Location	5q23.2      Physical location : 126.626.455 - 126.796.908
Synonym symbol(s)	DKFZp781K1852, FLJ41574, KIAA1780

DNA

TYPE	functioning gene
STRUCTURE	170.46 kb     26 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032446 26 - 7689 NP_115822 - 1140 - 2007 17498693

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       predominantly Homo sapiens   brain limbic system hippocampus     Homo sapiens   brain forebrain cerebral cortex     Homo sapiens   spinal cord         Homo sapiens Visual eye retina       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth

cells

System Cell Pubmed Species Stage Rna symbol Visual amacrine cell Homo sapiens Visual horizontal association cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	overall domain organization of Ced-1, with a signal peptide
	a EMI domain
	17 atypical EGF-like domains in extracellular region , each of which contains eight cysteine residues that likely form disulfide bonds
	a transmembrane domain
	a cytoplasmic domain with NPXY and YXXL motifs , and NPxY and YxxL motifs are crucial for cellular uptake of Abeta42

HOMOLOGY

interspecies

ortholog to of nematode CED-1, a transmembrane protein involved in engulfment of apoptotic corpses (PMID: 17498693)

Homologene

FAMILY

MEGF10 family

CATEGORY

signaling growth factor

SUBCELLULAR LOCALIZATION	plasma membrane
text	type I transmembrane protein

basic FUNCTION	induces large vacuole formation
	with apoptotic cells, accumulated around the contact region during engulfment of apoptotic cells
	epidermal growth factor repeat transmembrane protein, quiescent satellite cell marker that is also expressed in skeletal myoblasts but not in differentiated myofibers
	represents a novel transmembrane protein that impinges on Notch signaling to regulate the satellite cell population balance between proliferation and differentiation
	PEAR1 an engulfment receptor, and MEGF10, a purported engulfment receptor are expressed in fibroblasts, and facilitated binding to dead neurons
	involved in the uptake of amyloid-beta peptide (Abeta42) in the brain
	functional receptor that mediates the uptake of APP, which will help elucidate the molecular mechanisms of amlyoid-beta clearance in Alzheimer disease
	it is possible that MEGF10 is involved in clearance of Abeta which was formed in cerebral cortex and hippocampus regions at old age
	highly expressed in activated satellite cells and regulates their proliferation as well as their differentiation and fusion into multinucleated myofibers
	MEGF10 and MEGF11, have critical roles in the formation of mosaics by two retinal interneuron subtypes, starburst amacrine cells and horizontal cells
	can act as a ligand that signals to starburst amacrine cells (SACs), and horizontal cells (HCs)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complex MEGF10-EGFP localized throughout the cytoplasmic membrane

INTERACTION

DNA

RNA

small molecule

protein

interaction between MEGF10 and clathrin assembly protein complex 2 medium chain (AP50), a component of clathrin-coated pits

cell & other

REGULATION

Other

regulated by ABCA1 (function modulated by the ATP binding cassette transporter ABCA1, ortholog to CED-7)

ASSOCIATED DISORDERS

corresponding disease(s)

EMARDD

Susceptibility

to schizophrenia

Variant & Polymorphism other	major allele and 1/1 genotype at rs27388 impose higher risks for the schizophrenia

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS