Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84466
Gene name	Multiple EGF like domains 10
Gene symbol	MEGF10
Synonyms (NCBI Gene)	CMYO10ACMYO10BCMYP10ACMYP10BEMARDDSR-F3
Chromosome	5
Chromosome location	5q23.2
Summary	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-bet

Show/Hide all (25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35591368	C>G,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant, genic downstream transcript variant, missense variant
rs115184652	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs199750143	A>C,G	Conflicting-interpretations-of-pathogenicity	Splice acceptor variant, genic downstream transcript variant
rs200174116	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs372378202	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant
rs387907071	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, synonymous variant, stop gained
rs387907072	T>C	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs387907073	T>C	Pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs387907074	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs762560221	->T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs794726677	G>A	Pathogenic	Coding sequence variant, stop gained
rs794726678	T>G	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs794726679	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs931073338	G>A,C	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs989552169	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1057518682	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057519152	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057523896	G>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064793831	G>T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1064795948	G>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1291487750	->A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1298663120	G>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1454219963	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1561599823	T>C	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1580733016	G>ACATTC	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments
MIRT1142411	hsa-miR-1197	CLIP-seq
MIRT1142412	hsa-miR-1246	CLIP-seq
MIRT1142413	hsa-miR-1260	CLIP-seq
MIRT1142414	hsa-miR-1260b	CLIP-seq
MIRT1142415	hsa-miR-1290	CLIP-seq
MIRT1142416	hsa-miR-188-3p	CLIP-seq
MIRT1142417	hsa-miR-3120-3p	CLIP-seq
MIRT1142418	hsa-miR-3134	CLIP-seq
MIRT1142419	hsa-miR-3150a-5p	CLIP-seq
MIRT1142420	hsa-miR-3150b-5p	CLIP-seq
MIRT1142421	hsa-miR-3156-3p	CLIP-seq
MIRT1142422	hsa-miR-3167	CLIP-seq
MIRT1142423	hsa-miR-3671	CLIP-seq
MIRT1142424	hsa-miR-4276	CLIP-seq
MIRT1142425	hsa-miR-4301	CLIP-seq
MIRT1142426	hsa-miR-433	CLIP-seq
MIRT1142427	hsa-miR-4528	CLIP-seq
MIRT1142428	hsa-miR-4534	CLIP-seq
MIRT1142429	hsa-miR-4728-3p	CLIP-seq
MIRT1142430	hsa-miR-4753-3p	CLIP-seq
MIRT1142431	hsa-miR-4768-5p	CLIP-seq
MIRT1142432	hsa-miR-4803	CLIP-seq
MIRT1142433	hsa-miR-487a	CLIP-seq
MIRT1142434	hsa-miR-548p	CLIP-seq
MIRT1142435	hsa-miR-659	CLIP-seq
MIRT1142436	hsa-miR-876-5p	CLIP-seq
MIRT1142417	hsa-miR-3120-3p	CLIP-seq
MIRT2040442	hsa-miR-3622a-3p	CLIP-seq
MIRT2040443	hsa-miR-3622b-3p	CLIP-seq
MIRT2040444	hsa-miR-3658	CLIP-seq
MIRT2040445	hsa-miR-4326	CLIP-seq
MIRT2270202	hsa-miR-1200	CLIP-seq
MIRT2270203	hsa-miR-299-5p	CLIP-seq
MIRT2270204	hsa-miR-3074-5p	CLIP-seq
MIRT2270205	hsa-miR-3127-3p	CLIP-seq
MIRT2270206	hsa-miR-3140-5p	CLIP-seq
MIRT2270207	hsa-miR-33a	CLIP-seq
MIRT2270208	hsa-miR-33b	CLIP-seq
MIRT2040442	hsa-miR-3622a-3p	CLIP-seq
MIRT2040443	hsa-miR-3622b-3p	CLIP-seq
MIRT2270209	hsa-miR-4287	CLIP-seq
MIRT2270210	hsa-miR-4292	CLIP-seq
MIRT2270211	hsa-miR-4308	CLIP-seq
MIRT2270212	hsa-miR-4330	CLIP-seq
MIRT2270213	hsa-miR-4469	CLIP-seq
MIRT2270214	hsa-miR-4685-3p	CLIP-seq
MIRT2270215	hsa-miR-4713-5p	CLIP-seq
MIRT2270216	hsa-miR-584	CLIP-seq
MIRT1142417	hsa-miR-3120-3p	CLIP-seq
MIRT2453950	hsa-miR-1185	CLIP-seq
MIRT2453951	hsa-miR-1224-5p	CLIP-seq
MIRT2453952	hsa-miR-2392	CLIP-seq
MIRT2453953	hsa-miR-23a	CLIP-seq
MIRT2453954	hsa-miR-23b	CLIP-seq
MIRT2453955	hsa-miR-23c	CLIP-seq
MIRT2453956	hsa-miR-3605-5p	CLIP-seq
MIRT2453957	hsa-miR-3679-5p	CLIP-seq
MIRT2453958	hsa-miR-3688-5p	CLIP-seq
MIRT2453959	hsa-miR-3915	CLIP-seq
MIRT2453960	hsa-miR-4470	CLIP-seq
MIRT2453961	hsa-miR-4680-5p	CLIP-seq
MIRT2453962	hsa-miR-4689	CLIP-seq
MIRT2453963	hsa-miR-4717-3p	CLIP-seq
MIRT2453964	hsa-miR-4796-3p	CLIP-seq
MIRT2453965	hsa-miR-618	CLIP-seq
MIRT2453961	hsa-miR-4680-5p	CLIP-seq
MIRT2453965	hsa-miR-618	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001849	Function	Complement component C1q complex binding	IDA	27170117
GO:0001891	Component	Phagocytic cup	IDA	17205124
GO:0001891	Component	Phagocytic cup	IEA
GO:0005044	Function	Scavenger receptor activity	IDA	27170117
GO:0005112	Function	Notch binding	IBA
GO:0005112	Function	Notch binding	IEA
GO:0005112	Function	Notch binding	IPI	28498977
GO:0005886	Component	Plasma membrane	IDA	27170117
GO:0005886	Component	Plasma membrane	IEA
GO:0006909	Process	Phagocytosis	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0014719	Process	Skeletal muscle satellite cell activation	IEA
GO:0014719	Process	Skeletal muscle satellite cell activation	ISS
GO:0014816	Process	Skeletal muscle satellite cell differentiation	IEA
GO:0014816	Process	Skeletal muscle satellite cell differentiation	IMP	22101682
GO:0014841	Process	Skeletal muscle satellite cell proliferation	IEA
GO:0014841	Process	Skeletal muscle satellite cell proliferation	ISS
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0022409	Process	Positive regulation of cell-cell adhesion	IMP	31267131
GO:0033002	Process	Muscle cell proliferation	IEA
GO:0033002	Process	Muscle cell proliferation	IMP	28498977
GO:0034109	Process	Homotypic cell-cell adhesion	IDA	22407321
GO:0042995	Component	Cell projection	IEA
GO:0043277	Process	Apoptotic cell clearance	IBA
GO:0043652	Process	Engulfment of apoptotic cell	IEA
GO:0043652	Process	Engulfment of apoptotic cell	ISS
GO:0043654	Process	Recognition of apoptotic cell	IEA
GO:0048468	Process	Cell development	IEA
GO:0048627	Process	Myoblast development	IEA
GO:0048641	Process	Regulation of skeletal muscle tissue development	IMP	22101682
GO:0051147	Process	Regulation of muscle cell differentiation	IMP	22101682
GO:0051451	Process	Myoblast migration	IEA
GO:0051451	Process	Myoblast migration	IMP	28498977
GO:0055001	Process	Muscle cell development	IMP	22101682
GO:1902742	Process	Apoptotic process involved in development	IEA
GO:1902742	Process	Apoptotic process involved in development	ISS
GO:2000288	Process	Positive regulation of myoblast proliferation	IEA
GO:2000288	Process	Positive regulation of myoblast proliferation	IMP	31267131

MIM	HGNC	e!Ensembl
612453	29634	ENSG00000145794

Q96KG7

Protein name

Multiple epidermal growth factor-like domains protein 10 (Multiple EGF-like domains protein 10)

Protein function

Membrane receptor involved in phagocytosis by macrophages and astrocytes of apoptotic cells. Receptor for C1q, an eat-me signal, that binds phosphatidylserine expressed on the surface of apoptotic cells (PubMed:27170117). Cooperates with ABCA1 w

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12661	hEGF	197 → 216	Human growth factor-like EGF	Domain
PF12661	hEGF	240 → 259	Human growth factor-like EGF	Domain
PF00053	Laminin_EGF	281 → 326	Laminin EGF domain	Domain
PF00053	Laminin_EGF	367 → 415	Laminin EGF domain	Domain
PF12661	hEGF	415 → 434	Human growth factor-like EGF	Domain
PF12661	hEGF	501 → 520	Human growth factor-like EGF	Domain
PF12661	hEGF	587 → 606	Human growth factor-like EGF	Domain
PF12661	hEGF	718 → 737	Human growth factor-like EGF	Domain
PF00053	Laminin_EGF	759 → 804	Laminin EGF domain	Domain
PF00053	Laminin_EGF	802 → 838	Laminin EGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in muscle (at protein level). {ECO:0000269|PubMed:27460346}.

Sequence

MVISLNSCLSFICLLLCHWIGTASPLNLEDPNVCSHWESYSVTVQESYPHPFDQIYYTSC
TDILNWFKCTRHRVSYRTAYRHGEKTMYRRKSQCCPGFYESGEMCVPHCADKCVHGRCIA
PNTCQCEPGWGGTNCSSACDGDHWGPHCTSRCQCKNGALCNPITGACHCAAGFRGWRCED
RCEQGTYGNDCHQRCQCQNGATCDHVTGECRCPPGYTGAFCEDLCPPGKHGPQCEQRCPC
QNGGVCHHVTGECSCPSGWMGTVCGQPCPEGRFGKNCSQECQCHNGGTCDAATGQCHCSP
GYTGERCQDECPVGTYGVLCAETCQCVNGGKCYHVSGACLCEAGFAGERCEARLCPEGLY
GIKCDKRCPCHLENTHSCHPMSGECACKPGWSGLYCNETCSPGFYGEACQQICSCQNGAD
CDSVTGKCTCAPGFKGIDCSTPCPLGTYGINCSSRCGCKNDAVCSPVDGSCTCKAGWHGV
DCSIRCPSGTWGFGCNLTCQCLNGGACNTLDGTCTCAPGWRGEKCELPCQDGTYGLNCAE
RCDCSHADGCHPTTGHCRCLPGWSGVHCDSVCAEGRWGPNCSLPCYCKNGASCSPDDGIC
ECAPGFRGTTCQRICSPGFYGHRCSQTCPQCVHSSGPCHHITGLCDCLPGFTGALCNEVC
PSGRFGKNCAGICTCTNNGTCNPIDRSCQCYPGWIGSDCSQPCPPAHWGPNCIHTCNCHN
GAFCSAYDGECKCTPGWTGLYCTQRCPLGFYGKDCALICQCQNGADCDHISGQCTCRTGF
MGRHCEQKCPSGTYGYGCRQICDCLNNSTCDHITGTCYCSPGWKGARCDQAGVIIVGNLN
SLSRTSTALPADSYQIGAIAGIIILVLVVLFLLALFIIYRHKQKGKESSMPAVTYTPAMR
VVNADYTISGTLPHSNGGNANSHYFTNPSYHTLTQCATSPHVNNRDRMTVTKSKNNQLFV
NLKNVNPGKRGPVGDCTGTLPADWKHGGYLNELGAFGLDRSYMGKSLKDLGKNSEYNSSN
CSLSSSENPYATIKDPPVLIPKSSECGYVEMKSPARRDSPYAEINNSTSANRNVYEVEPT
VSVVQGVFSNNGRLSQDPYDLPKNSHIPCHYDLLPVRDSSSSPKQEDSGGSSSNSSSSSE

Sequence length

1140

Interactions

View interactions

	KEGG
	Efferocytosis

903

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital myopathy 10b, mild variant	Pathogenic; Likely pathogenic	rs2479813429, rs2479778910, rs2479531357, rs2479708318, rs1013163272, rs387907072, rs387907073	RCV003152534 RCV003152537 RCV003152538 RCV003152539 RCV003152540 RCV000023956 RCV000023957
MEGF10-related myopathy	Pathogenic; Likely pathogenic	rs1234596293, rs1766329158, rs2126999837, rs1247305358, rs2126934788, rs2127045645, rs2126973413, rs2479766812, rs1279221790, rs931073338, rs1215256187, rs199750143, rs2479650289, rs1765917272, rs2479702385 View all (21 more)	RCV001383136 RCV001386616 RCV001966111 RCV002023271 RCV002007533 RCV001972577 RCV002049356 RCV002288441 RCV002598556 RCV002628520 RCV002589023 RCV002672234 RCV002972030 RCV003018083 RCV003042965 RCV003022345 RCV003052455 RCV003152535 RCV003152536 RCV003336823 RCV003644368 RCV003105889 RCV000415251 RCV000023950 RCV000023951 RCV000023952 RCV000023953 RCV000023954 RCV000023955 RCV001385515 RCV000557494 RCV000705234 RCV000797146 RCV000801464 RCV001071858 RCV001224186 RCV001242956

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs118151260	RCV005903966
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs6595769	RCV005894246
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2479433454	RCV004557797
Familial pancreatic carcinoma	Benign	rs6595769	RCV005894244
Lung cancer	Benign	rs3851469	RCV005905833
Malignant tumor of esophagus	Likely benign	rs17673727	RCV005917629
MEGF10-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs200870082, rs528749140, rs377470998, rs115184652, rs558369303, rs116500162, rs185480820, rs139929890, rs34649270, rs182243856, rs151316424, rs75783175, rs1307226774, rs1036130197, rs775698351 View all (9 more)	RCV003908552 RCV004757510 RCV005626777 RCV004757179 RCV003957813 RCV003950239 RCV003912494 RCV003957814 RCV003922542 RCV003970013 RCV003972478 RCV003950240 RCV003893526 RCV003899018 RCV003909757 RCV003942387 RCV003959959 RCV003905431 RCV003945469 RCV003935678 RCV003938370 RCV003955780 RCV003962901 RCV004757309
Uterine carcinosarcoma	Benign	rs6595769	RCV005894245
Uveal melanoma	Conflicting classifications of pathogenicity	rs201148765	RCV005896654

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autistic Disorder	Associate	28536440
Bilateral Vestibulopathy	Associate	23453856, 34828389
Deglutition Disorders	Associate	23453856, 34828389
Dental Caries	Associate	29859070
Genetic Diseases Inborn	Associate	34828389
Glioma	Associate	29887919
Muscular Diseases	Associate	23453856, 34828389, 36349186
Myotonia Congenita	Associate	34828389, 36349186
Neoplasm Metastasis	Associate	34434692
Neoplasms	Inhibit	27862318
Neuroblastoma	Inhibit	27862318
Respiratory Distress Syndrome	Associate	23453856, 34828389, 36349186
Rhabdomyosarcoma	Associate	34285060
Schizophrenia	Associate	18179784
Uveal melanoma	Associate	34434692

MEGF10 (multiple EGF like domains 10)