Gene Gene information from NCBI Gene database.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
67
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612453 29634 ENSG00000145794
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
QNGGVCHHVTGECSCPSGW
MGTVCGQPCPEGRFGKNCSQECQCHNGGTCDAATGQCHCSP
GYTGERCQDECPVGTYGVLCAETCQC
VNGGKCYHVSGACLCEAGFAGERCEARLCPEGLY
GIKCDKRCPCHLENTHSCHPMSGECACKPGWSGLYCNETCSPGFYGEACQQICSCQNGAD
CDSVTGKCTCAPGF
KGIDCSTPCPLGTYGINCSSRCGCKNDAVCSPVDGSCTCKAGWHGV
DCSIRCPSGTWGFGCNLTCQCLNGGACNTLDGTCTCAPGWRGEKCELPCQDGTYGLNCAE
RCDCSHADGCHPTTGHCRCLPGWSGVHCDSVCAEGRWGPNCSLPCYCKNGASCSPDDGIC
ECAPGF
RGTTCQRICSPGFYGHRCSQTCPQCVHSSGPCHHITGLCDCLPGFTGALCNEVC
PSGRFGKNCAGICTCTNNGTCNPIDRSCQCYPGWIGSDCSQPCPPAHWGPNCIHTCNCHN
GAFCSAYDGECKCTPGW
TGLYCTQRCPLGFYGKDCALICQCQNGADCDHISGQCTCRTGF
MGRHCEQKCPSGTYGYGCRQI
CDCLNNSTCDHITGTCYCSPGWKGARCDQAGVIIVGNLN
SLSRTSTALPADSYQIGAIAGIIILVLVVLFLLALFIIYRHKQKGKESSMPAVTYTPAMR
VVNADYTISGTLPHSNGGNANSHYFTNPSYHTLTQCATSPHVNNRDRMTVTKSKNNQLFV
NLKNVNPGKRGPVGDCTGTLPADWKHGGYLNELGAFGLDRSYMGKSLKDLGKNSEYNSSN
CSLSSSENPYATIKDPPVLIPKSSECGYVEMKSPARRDSPYAEINNSTSANRNVYEVEPT
VSVVQGVFSNNGRLSQDPYDLPKNSHIPCHYDLLPVRDSSSSPKQEDSGGSSSNSSSSSE
Sequence length 1140
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Efferocytosis  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital myopathy 10b, mild variant Pathogenic; Likely pathogenic rs2479813429, rs2479778910, rs2479531357, rs2479708318, rs1013163272, rs387907072, rs387907073 RCV003152534
RCV003152537
RCV003152538
RCV003152539
RCV003152540
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (32 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL MYOPATHY 10A, SEVERE VARIANT HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASDB_DG 23535033
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 23535033
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 28536440
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism Pubtator 28536440 Associate
★☆☆☆☆
Found in Text Mining only
Bilateral Vestibulopathy Bilateral vestibulopathy Pubtator 23453856, 34828389 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Clumsiness - motor delay Motor delay HPO_DG
★☆☆☆☆
Found in Text Mining only
CNS disorder CNS Disorder BEFREE 27170117
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital myopathy (disorder) Congenital myopathy BEFREE 22371254
★☆☆☆☆
Found in Text Mining only