MEGF10

Protein identityUniProt · HPA

UniProt accession

Q96KG7

Gene

MEGF10

Ensembl

ENSG00000145794

Chromosome

5

Canonical length

1140 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane

Secretome location

Intracellular and membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1140 residues, UniProt reviewed canonical sequence.

>Q96KG7|MEGF10
     1  MVISLNSCLS FICLLLCHWI GTASPLNLED PNVCSHWESY SVTVQESYPH PFDQIYYTSC
    61  TDILNWFKCT RHRVSYRTAY RHGEKTMYRR KSQCCPGFYE SGEMCVPHCA DKCVHGRCIA
   121  PNTCQCEPGW GGTNCSSACD GDHWGPHCTS RCQCKNGALC NPITGACHCA AGFRGWRCED
   181  RCEQGTYGND CHQRCQCQNG ATCDHVTGEC RCPPGYTGAF CEDLCPPGKH GPQCEQRCPC
   241  QNGGVCHHVT GECSCPSGWM GTVCGQPCPE GRFGKNCSQE CQCHNGGTCD AATGQCHCSP
   301  GYTGERCQDE CPVGTYGVLC AETCQCVNGG KCYHVSGACL CEAGFAGERC EARLCPEGLY
   361  GIKCDKRCPC HLENTHSCHP MSGECACKPG WSGLYCNETC SPGFYGEACQ QICSCQNGAD
   421  CDSVTGKCTC APGFKGIDCS TPCPLGTYGI NCSSRCGCKN DAVCSPVDGS CTCKAGWHGV
   481  DCSIRCPSGT WGFGCNLTCQ CLNGGACNTL DGTCTCAPGW RGEKCELPCQ DGTYGLNCAE
   541  RCDCSHADGC HPTTGHCRCL PGWSGVHCDS VCAEGRWGPN CSLPCYCKNG ASCSPDDGIC
   601  ECAPGFRGTT CQRICSPGFY GHRCSQTCPQ CVHSSGPCHH ITGLCDCLPG FTGALCNEVC
   661  PSGRFGKNCA GICTCTNNGT CNPIDRSCQC YPGWIGSDCS QPCPPAHWGP NCIHTCNCHN
   721  GAFCSAYDGE CKCTPGWTGL YCTQRCPLGF YGKDCALICQ CQNGADCDHI SGQCTCRTGF
   781  MGRHCEQKCP SGTYGYGCRQ ICDCLNNSTC DHITGTCYCS PGWKGARCDQ AGVIIVGNLN
   841  SLSRTSTALP ADSYQIGAIA GIIILVLVVL FLLALFIIYR HKQKGKESSM PAVTYTPAMR
   901  VVNADYTISG TLPHSNGGNA NSHYFTNPSY HTLTQCATSP HVNNRDRMTV TKSKNNQLFV
   961  NLKNVNPGKR GPVGDCTGTL PADWKHGGYL NELGAFGLDR SYMGKSLKDL GKNSEYNSSN
  1021  CSLSSSENPY ATIKDPPVLI PKSSECGYVE MKSPARRDSP YAEINNSTSA NRNVYEVEPT
  1081  VSVVQGVFSN NGRLSQDPYD LPKNSHIPCH YDLLPVRDSS SSPKQEDSGG SSSNSSSSSE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MEGF10 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

12 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MEGF10.

Disease | AllUniProt

Conditions MEGF10 is implicated in, by any mechanism.

• Congenital myopathy 10A, severe variant (CMYO10A) MIM:614399
• Congenital myopathy 10B, mild variant (CMYO10B) MIM:620249

Disease | GeneticClinVar

62 pathogenic / likely-pathogenic of 1,160 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• MEGF10-related myopathy
• Congenital myopathy 10b, mild variant
• MEGF10-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.35

gnomAD pLI

0.39

gnomAD missense Z

1.05

DepMap mean gene effect

0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• apoptotic cell clearance
• apoptotic process involved in development
• engulfment of apoptotic cell
• homotypic cell-cell adhesion
• muscle cell development
• myoblast development
• myoblast migration
• positive regulation of cell-cell adhesion
• positive regulation of myoblast proliferation
• recognition of apoptotic cell
• regulation of muscle cell differentiation
• regulation of skeletal muscle tissue development
• skeletal muscle satellite cell activation
• skeletal muscle satellite cell differentiation
• skeletal muscle satellite cell proliferation
• muscle cell proliferation

Molecular functions

• complement component C1q complex binding
• Notch binding
• scavenger receptor activity

Cellular components

• phagocytic cup
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• EGF-like domain
• Laminin-type EGF domain
• EMI domain
• EGF-like, conserved site
• Epidermal growth factor-like domain, extracellular
• MEGF-related differentiation regulators
• Platelet endothelial aggregation receptor 1-like, EGF domain
• Laminin EGF domain
• EGF-like domain
• Human growth factor-like EGF
• Platelet endothelial aggregation receptor 1-like, EGF domain

KeywordsUniProt

• Cell adhesion
• Cell membrane
• Cell projection
• Disulfide bond
• EGF-like domain
• Glycoprotein
• Membrane
• Myogenesis
• Phagocytosis
• Phosphoprotein
• Repeat
• Signal
• Transmembrane
• Transmembrane helix
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of MEGF10 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ABCA1
• AP2M1
• GULP1