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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MEGF10 Gene

protein-coding GIFtS: 52
GCID: GC05P126654

multiple EGF-like-domains 10

Explore 7 diseases affiliated with
MEGF10 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Multiple EGF-Like-Domains 10¹ ²
KIAA1780¹ ³ ⁵
EMARDD²
Multiple Epidermal Growth Factor-Like Domains Protein 10²
Multiple EGF-Like Domains Protein 10³

External Ids:	HGNC: 29634¹	Entrez Gene: 84466²	Ensembl: ENSG00000145794⁷	OMIM: 612453⁵	UniProtKB: Q96KG7³

Export aliases for MEGF10 gene to outside databases

Previous GC identifers: GC05P126164 GC05P127062 GC05P126657 GC05P126702 GC05P121817

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MEGF10:

This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein

plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis

as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and

mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as

well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this

gene. (provided by RefSeq, Apr 2012)

UniProtKB/Swiss-Prot: MEG10_HUMAN, Q96KG7

Function: Membrane receptor involved in phagocytosis by macrophages of apoptotic cells. Cooperates with ABCA1 within

the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the

uptake of amyloid-beta peptides. May also function in the mosaic spacing of specific neuron subtypes in the retina

through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the

retina, ensuring that all parts of the visual field have access to a full set of processing elements. May play role in

cell adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between

skeletal muscle satellite cells proliferation and differentiation problably through regulation of the notch signaling

pathway

Gene Wiki entry for MEGF10

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_034772.6

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MEGF10 gene promoter:
AP-2alpha isoform 3 MyoD Nkx2-5 AP-2alpha isoform 2 Arnt AP-2alpha isoform 4 AP-2alpha AP-2alphaA Ik-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MEGF10 promoter sequence

Search SABiosciences Chromatin IP Primers for MEGF10

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MEGF10

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q33 Ensembl cytogenetic band: 5q23.2 HGNC cytogenetic band: 5q33

MEGF10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MEGF10 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P126654: view genomic region (about GC identifiers)

Start:	126,626,456 bp from pter	End:	126,801,429 bp from pter
Size:	174,974 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MEG10_HUMAN, Q96KG7 (See protein sequence)

Recommended Name: Multiple epidermal growth factor-like domains protein 10 precursor

Size: 1140 amino acids; 122205 Da

Subunit: Homopolymer (Probable). Interacts with GULP1 and ABCA1. Interacts with AP2M1. Does not interact with MEGF11

Subcellular location: Cell membrane; Single-pass type I membrane protein. Basolateral cell membrane; Single-pass type I

membrane protein. Cell projection, phagocytic cup. Note=Enriched at the sites of contact with apoptotic thymocyte

cells (By similarity). Forms an irregular, mosaic-like adhesion pattern in region of the cell surface that becomes

firmely fixed to the substrate. Expressed at the cell surface in clusters around cell corpses during engulfment.

During the engulfment of apoptotic thymocytes, recruited at the bottom of the forming phagocytic cup. Colocalizes with

ABCA1 in absence of any phagocytic challenge. Does not localize within lamellipodia. Does not localize with MEGF11

Sequence caution: Sequence=BAB47409.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: Q68DE5 Q8WUL3

Alternative splicing: 2 isoforms: Q96KG7-1 Q96KG7-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MEGF10: NX_Q96KG7

Post-translational modifications:

Phosphorylated on tyrosine residues¹

Ubiquitinated; mono- and polyubiquitinated forms are detected¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96KG7

MEGF10 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001243474.1 NP_115822.1

ENSEMBL proteins:

ENSP00000423354 ENSP00000423195 ENSP00000416284 ENSP00000274473

Human Recombinant Protein Products for MEGF10:

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	Uscn Proteins for MEGF10

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001891	phagocytic cup	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0016323	basolateral plasma membrane	IEA	--
GO:0042995	cell projection	IEA	--

MEGF10 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MEGF10

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MEGF10 for domains About GeneDecksing

4 InterPro domains/families:

IPR000742 EG-like_dom

IPR011489 EMI_domain

IPR002049 EGF_laminin

IPR013032 EGF-like_CS

Graphical View of Domain Structure for InterPro Entry Q96KG7

ProtoNet protein and cluster: Q96KG7

1 Blocks protein family: IPB011489 EMI

UniProtKB/Swiss-Prot: MEG10_HUMAN, Q96KG7

Domain: The EMI and EGF-like domains work in concert to promote self-assembly

Similarity: Belongs to the MEGF family

Similarity: Contains 15 EGF-like domains

Similarity: Contains 1 EMI domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: MEG10_HUMAN, Q96KG7

Function: Membrane receptor involved in phagocytosis by macrophages of apoptotic cells. Cooperates with ABCA1 within

the process of engulfment. Promotes the formation of large intracellular vacuoles and may be responsible for the

uptake of amyloid-beta peptides. May also function in the mosaic spacing of specific neuron subtypes in the retina

through homotypic retinal neuron repulsion. Mosaics provide a mechanism to distribute each cell type evenly across the

retina, ensuring that all parts of the visual field have access to a full set of processing elements. May play role in

cell adhesion and motility. Is also an essential factor in the regulation of myogenesis. Controls the balance between

skeletal muscle satellite cells proliferation and differentiation problably through regulation of the notch signaling

pathway

Phenotypes:
1 GenomeRNAi human phenotype for MEGF10:

Increased cilium length after

2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Megf10):

nervous system

vision/eye

MEGF10 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MEGF10

miRNA Products:		OriGene 3'-UTR Clone: MEGF10 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MEGF10
		8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate MEGF10 (see all 39):
		hsa-miR-374a hsa-miR-502-3p hsa-miR-9 hsa-miR-3908 hsa-miR-3613-3p hsa-miR-190 hsa-miR-181b hsa-miR-3163

		SwitchGear 3'UTR luciferase reporter plasmid: MEGF10 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEGF10

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MEGF10

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/27 Interacting proteins for MEGF10 (Q96KG7³ ENSP00000274473⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RANBP10	Q6VN20³, ENSP00000316589⁴	I2D: score=3 STRING: ENSP00000316589
SNRNP200	O75643³, ENSP00000317123⁴	I2D: score=3 STRING: ENSP00000317123
AARS2	Q5JTZ9³, ENSP00000244571⁴	I2D: score=2 STRING: ENSP00000244571
ARHGAP32	A7KAX9³, ENSP00000310561⁴	STRING: ENSP00000310561 I2D: score=2
CADPS2	Q86UW7³, ENSP00000400401⁴	I2D: score=2 STRING: ENSP00000400401

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006909	phagocytosis	--	--
GO:0014719	satellite cell activation	ISS	--
GO:0014816	satellite cell differentiation	IMP	--
GO:0014841	satellite cell proliferation	ISS	--
GO:0034109	homotypic cell-cell adhesion	IDA	--

MEGF10 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MEGF10
Search CenterWatch for drugs/clinical trials and news about MEGF10 / MEG10

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MEGF10 gene (2 alternative transcripts):

NM_001256545.1 NM_032446.2

Unigene Cluster for MEGF10:

Multiple EGF-like-domains 10

Hs.438709 [show with all ESTs]

Unigene Representative Sequence: NM_032446

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000503335(uc003kui.4) ENST00000508365(uc010jdc.1 uc010jdd.1)

ENST00000418761 ENST00000274473(uc003kuh.4) ENST00000515002 ENST00000506709

ENST00000510513 ENST00000510828 ENST00000507158 ENST00000515622

miRNA Products:		OriGene 3'-UTR Clone: MEGF10 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MEGF10
		8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate MEGF10 (see all 39):
		hsa-miR-374a hsa-miR-502-3p hsa-miR-9 hsa-miR-3908 hsa-miR-3613-3p hsa-miR-190 hsa-miR-181b hsa-miR-3163

		SwitchGear 3'UTR luciferase reporter plasmid: MEGF10 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: MEGF10 (NM_032446)
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Additional cDNA sequence:

AB058676.1 AK021631.1 AK123568.1 AK307919.1 BC020198.1 BC152478.1 CR749437.1

6 DOTS entries:

DT.310590 DT.102826209 DT.97769618 DT.101974533 DT.97824564 DT.95239560

1 AceView cDNA sequence:

BG828819

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MEGF10 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATATGCAAG

About this image

MEGF10 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

7 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Ganglion Cell Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

Cholinergic Amacrine Cells

Amacrine, Retina

Eye

Inner Nuclear Layer

Mature Horizontal Cells

Horizontal, Retina

Eye

Inner Nuclear Layer

Mature Muller Glia Cells

Muller Glia, Retina

Ovary

Ovary

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 7 LifeMap Cells

Name

Category

PureStem™ progenitor E68 (Embryonic Progenitor Cell)

PureStem™ progenitor T42 (Embryonic Progenitor Cell)

PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

PureStem™ progenitor SK17 (Embryonic Progenitor Cell)

PureStem™ progenitor T36 (Embryonic Progenitor Cell)

PureStem™ progenitor U31 (Embryonic Progenitor Cell)

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

See MEGF10 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MEGF10

SOURCE GeneReport for Unigene cluster: Hs.438709

SABiosciences Custom PCR Arrays for MEGF10

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MEGF10

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for MEGF10 gene from 7/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Megf10^{1 , 5}	multiple EGF-like-domains 10^{1, 5}	87.68(n)¹ 94.56(a)¹		18 (31.50 cM)⁵ 70417¹ NM_001001979.2¹ NP_001001979.1¹ 57133090⁵
chicken (Gallus gallus)	Aves	MEGF10¹	multiple EGF-like-domains 10	81.05(n) 89.52(a)		427126 XM_424719.3 XP_424719.3
lizard (Anolis carolinensis)	Reptilia	MEGF10⁶	--	87(a)	1 ↔ 1	2(29631462-29725546)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.19153²	Transcribed sequence with moderate similarity to protein more	79.81(n)		AL860947.2
zebrafish (Danio rerio)	Actinopterygii	megf10¹	multiple EGF-like-domains 10	72.77(n) 77.4(a)		564571 XM_001922489.2 XP_001922524.2
fruit fly (Drosophila melanogaster)	Insecta	CG18172³	--	45(a) (best of 4)		--
worm (Caenorhabditis elegans)	Secernentea	ced-1⁶	Cell death abnormality protein 1	26(a)	possible ortholog	I(11851334-11868096)

ENSEMBL Gene Tree for MEGF10 (if available)
TreeFam Gene Tree for MEGF10 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MEGF10 gene

NAGPA² STAB2² STAB1² SCARF2² MEGF6² MEGF11² TNFAIP6² SCARF1²

PEAR1²

3 SIMAP similar genes for MEGF10 using alignment to 1 protein entry: MEG10_HUMAN:

MEGF11 PEAR1 MEGF6

MEGF10 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for MEGF10
PGOHUM00000239745

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs78627309^1,2	C,F	--	121816083(+)	`GAACTA/GACAGC`	2	--	us2k¹		1		NA	120
rs200303344^1,2	C	--	121816285(+)	`CAGGGA/GTGGTA`	2	--	us2k¹		0	--	--	--	--
rs3812059^1,2	C,F,H	--	121816329(-)	`CATTGC/GCCCTT`	2	--	us2k¹ trp³		6		NS EA NA	654
rs75840444^1,2	F	--	121816792(+)	`TGTCTA/GACCCA`	2	--	us2k¹		1		WA	118
rs10519929^1,2	C,F,H	--	121816828(+)	`TTAACA/GTTCCA`	2	--	us2k¹ tfbs³		97		NS EA PA EU CA WA NA	6304
rs13179696^1,2		--	121816875(+)	`AGAGGA/GAGCCA`	2	--	us2k¹		0	--	--	--	--
rs3812058^1,2	C,F,H	--	121816897(-)	`CGCGCG/CGCAAT`	2	--	us2k¹		5		NS EA	540
rs10519930^1,2	C,F,H	--	121817034(+)	`TACTTT/CGCTGC`	2	--	us2k¹		99		NS EA NA PA EU CA WA	6414
rs13183727^1,2	H	--	121817206(+)	`AGGGAC/ATCTGC`	2	--	us2k¹		4		NS EA	420
rs13183869^1,2	H	--	121817258(+)	`ACCCAC/ATCTGA`	2	--	us2k¹		4		NS EA	420

HapMap Linkage Disequilibrium report for MEGF10 (126626456 - 126801429 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MEGF10: --
Human Gene Mutation Database (HGMD): MEGF10

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MEGF10

DNA2.0 Custom Variant and Variant Library Synthesis for MEGF10

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MEGF10 for disorders About GeneDecksing

OMIM gene information: 612453 OMIM disorders: --

UniProtKB/Swiss-Prot: MEG10_HUMAN, Q96KG7

Defects in MEGF10 are the cause of myopathy, early-onset, areflexia, respiratory distress, and dysphagia

(EMARDD) [MIM:614399]. An autosomal recessive congenital myopathy characterized by onset at birth, or early in

infancy, of respiratory distress caused by diaphragmatic weakness. Additional features are dysphagia resulting in poor

feeding, failure to thrive, poor head control, facial weakness, cleft palate, contractures and scoliosis. Affected

individuals become ventilator-dependent, and most require feeding by gastrostomy. The disorder results in severe

muscle weakness and most patients never achieve walking. Death from respiratory failure in childhood occurs in about

half of patients. Muscle biopsy shows myopathic changes, replacement of myofibers with fatty tissue, small and

incompletely fused muscle fibers, and variation in fiber size. Short regions of sarcomeric disorganization with few or

no mitochondria (minicores) have been observed in some cases

7 diseases for MEGF10: About MalaCards

myopathy schizophrenia dysphagia adenomyosis

myopathy, early-onset, areflexia, respiratory distress, and dysphagia retinitis neuronitis

Human Genome Epidemiology (HuGE) Navigator: MEGF10 (4 documents)

Export disorders for MEGF10 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MEGF10 gene, integrated from 9 sources (see all 18):
(articles sorted by number of sources associating them with MEGF10)

Utopia: connect your pdf to the dynamic
world of online information

Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)^{1, 2, 3} Nagase T.... Ohara O. (2001)
The mammalian Ced-1 ortholog MEGF10/KIAA1780 displays a novel adhesion pattern. (PubMed id 17498693)^{1, 2, 9} Suzuki E. and Nakayama M. (2007)
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. (PubMed id 22371254)^{1, 2} Boyden S.E.... Kang P.B. (2012)
Mutations in MEGF10, a regulator of satellite cell my ogenesis, cause early onset myopathy, areflexia, respiratory distress and dysph agia (EMARDD). (PubMed id 22101682)^{1, 2} Logan C.V....Johnson C.A. (2011)
MEGF10 functions as a receptor for the uptake of amyl oid-I^. (PubMed id 20828568)^{1, 2} Singh T.D....Kim I.S. (2010)
MEGF10 is a mammalian ortholog of CED-1 that interacts with clathrin assembly protein complex 2 medium chain and induces large vacuole formation. (PubMed id 17643423)^{1, 2} Suzuki E. and Nakayama M. (2007)
Cooperation between engulfment receptors: the case of ABCA1 and MEGF10. (PubMed id 17205124)^{1, 2} Hamon Y.... Chimini G. (2006)
No association between schizophrenia and rs27388 of t he MEGF10 gene in Chinese case-control sample. (PubMed id 20813413)¹ Yun L....Hou Y. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
Apoptotic engulfment pathway and schizophrenia. (PubMed id 19721717)¹ Chen X....Kendler K.S. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 84466	HGNC: 29634	AceView: MEGF10.1	Ensembl:ENSG00000145794	euGenes: HUgn84466
ECgene: MEGF10	H-InvDB: MEGF10

(According to HUGE)
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HUGE: KIAA1780

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MEGF10	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MEGF10 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MEGF10 gene:
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GeneCards and IP:
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