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MEGF10 multiple EGF like domains 10 [ Homo sapiens (human) ]

Gene ID: 84466, updated on 2-Nov-2024

Summary

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Official Symbol
MEGF10provided by HGNC
Official Full Name
multiple EGF like domains 10provided by HGNC
Primary source
HGNC:HGNC:29634
See related
Ensembl:ENSG00000145794 MIM:612453; AllianceGenome:HGNC:29634
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SR-F3; EMARDD; CMYO10A; CMYO10B; CMYP10A; CMYP10B
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-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]
Expression
Biased expression in brain (RPKM 5.7), adrenal (RPKM 1.0) and 4 other tissues See more
Orthologs
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Genomic context

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See MEGF10 in Genome Data Viewer
Location:
5q23.2
Exon count:
31
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (127229300..127461222)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (127749142..127981009)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (126626488..126796914)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA-binding protein 15-like Neighboring gene mitochondrial ribosomal protein S5 pseudogene 3 Neighboring gene selenoprotein T pseudogene 2 Neighboring gene uncharacterized LOC105379198 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16291 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16292 Neighboring gene uncharacterized LOC124901057 Neighboring gene uncharacterized LOC105379199 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:126590405-126591604 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:126643564-126644192 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:126755293-126755794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16293 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23034 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 1 Neighboring gene proline rich coiled-coil 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population. AlMuhaizea M, et al. Genes (Basel), 2021 Nov 10. PMID 34828389, Free PMC Article
  2. No association between schizophrenia and rs27388 of the MEGF10 gene in Chinese case-control sample. Yun L, et al. Psychiatry Res, 2011 Apr 30. PMID 20813413
  3. [A family with early onset myopathy caused by MEGF10 gene defect and literature review]. Lin YF, et al. Zhonghua Er Ke Za Zhi, 2023 Mar 2. PMID 36849355
  4. MEGF10 association with schizophrenia. Chen X, et al. Biol Psychiatry, 2008 Mar 1. PMID 18179784, Free PMC Article
  5. Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD). Pierson TM, et al. Neuromuscul Disord, 2013 Jun. PMID 23453856, Free PMC Article

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [A family with early onset myopathy caused by MEGF10 gene defect and literature review].
    Title: [A family with early onset myopathy caused by MEGF10 gene defect and literature review].
  2. Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.
    Title: Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.
  3. ZNF667-AS1, a positively regulating MEGF10, inhibits the progression of uveal melanoma by modulating cellular aggressiveness.
    Title: ZNF667-AS1, a positively regulating MEGF10, inhibits the progression of uveal melanoma by modulating cellular aggressiveness.
  4. Findings indicate that the risk alleles and haplotype near the multiple epidermal growth factor-like-domains 10 (MEGF10) transcription start site (TSS) might modulate transcriptional activity and increase the susceptibility to autism.
    Title: Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population.
  5. Results suggested that methylation level and mRNA expression of MEGF10 in glioma were not only correlated with IDH mutation but also associated with clinical outcome of patients.
    Title: MEGF10, a Glioma Survival-Associated Molecular Signature, Predicts IDH Mutation Status.
  6. Concentrating on hypermethylated genes to identify candidate tumor suppressor loci, the study found the cell engulfment and adhesion factor gene MEGF10 to be epigenetically repressed by DNA hypermethylation or by H3K27/K9 methylation in neuroblastoma cell lines.
    Title: Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma.
  7. MEGF10 mutations can cause myopathy with adult-onset respiratory insufficiency
    Title: Adult-onset respiratory insufficiency, scoliosis, and distal joint hyperlaxity in patients with multiminicore disease due to novel Megf10 mutations.
  8. results indicate that myogenin is a positive regulator in transcriptional regulation of MEGF10 in skeletal muscle
    Title: Myogenin is a positive regulator of MEGF10 expression in skeletal muscle.
  9. Megf10 is required for preserving the undifferentiated, proliferative potential of satellite cells, myogenic precursors that regenerate skeletal muscle in response to injury or disease.
    Title: Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
  10. Mutations in MEGF10 cause a recessive congenital myopathy with minicores and suggest satellite cell dysfunction as the pathogenic mechanism
    Title: Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores.
Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Congenital myopathy 10b, mild variant
MedGen: C3541476 OMIM: 620249 GeneReviews: Not available
not available
MEGF10-related myopathy
MedGen: C3280679 OMIM: 614399 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ41574, KIAA1780, DKFZp781K1852

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables Notch binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables Notch binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables complement component C1q complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables scavenger receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic cell clearance IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in apoptotic process involved in development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in engulfment of apoptotic cell ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in homotypic cell-cell adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in muscle cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in muscle cell proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in myoblast development IEA
Inferred from Electronic Annotation
more info
  
involved_in myoblast migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of myoblast proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in recognition of apoptotic cell IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of muscle cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of skeletal muscle tissue development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in skeletal muscle satellite cell activation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in skeletal muscle satellite cell differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in skeletal muscle satellite cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in phagocytic cup IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
multiple epidermal growth factor-like domains protein 10

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032072.3 RefSeqGene

    Range
    66498..236924
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256545.2 → NP_001243474.1  multiple epidermal growth factor-like domains protein 10 isoform a precursor

    See identical proteins and their annotated locations for NP_001243474.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AC008402, AC008682, AC010424, DA240513, DA738723
    Consensus CDS
    CCDS4142.1
    UniProtKB/Swiss-Prot
    Q68DE5, Q8WUL3, Q96KG7
    Related
    ENSP00000423354.2, ENST00000503335.7
    Conserved Domains (3) summary
    smart00180
    Location:281 → 318
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    pfam07546
    Location:32 → 99
    EMI; EMI domain
    cl21504
    Location:542 → 587
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

  2. NM_001308119.2 → NP_001295048.1  multiple epidermal growth factor-like domains protein 10 isoform b precursor

    See identical proteins and their annotated locations for NP_001295048.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is significantly shorter than isoform a. Both variants 3 and 4 encode isoform b.
    Source sequence(s)
    AC008682, AK307919, BC020198, DA240513
    Consensus CDS
    CCDS78055.1
    UniProtKB/Swiss-Prot
    Q96KG7
    Related
    ENSP00000416284.2, ENST00000418761.6
    Conserved Domains (1) summary
    pfam07546
    Location:32 → 99
    EMI; EMI domain

  3. NM_001308121.2 → NP_001295050.1  multiple epidermal growth factor-like domains protein 10 isoform b precursor

    See identical proteins and their annotated locations for NP_001295050.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, and lacks several 3' exons but contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is significantly shorter than isoform a. Both variants 3 and 4 encode isoform b.
    Source sequence(s)
    AC008682, AK307919, BC020198, DA240513
    Consensus CDS
    CCDS78055.1
    UniProtKB/Swiss-Prot
    Q96KG7
    Related
    ENSP00000423195.1, ENST00000508365.5
    Conserved Domains (1) summary
    pfam07546
    Location:32 → 99
    EMI; EMI domain

  4. NM_032446.3 → NP_115822.1  multiple epidermal growth factor-like domains protein 10 isoform a precursor

    See identical proteins and their annotated locations for NP_115822.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AB058676, AC008682, AC010424, DA240513
    Consensus CDS
    CCDS4142.1
    UniProtKB/Swiss-Prot
    Q68DE5, Q8WUL3, Q96KG7
    Related
    ENSP00000274473.6, ENST00000274473.6
    Conserved Domains (3) summary
    smart00180
    Location:281 → 318
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    pfam07546
    Location:32 → 99
    EMI; EMI domain
    cl21504
    Location:542 → 587
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    127229300..127461222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009987.2 → XP_016865476.1  multiple epidermal growth factor-like domains protein 10 isoform X1

  2. XM_011543694.1 → XP_011541996.1  multiple epidermal growth factor-like domains protein 10 isoform X2

    See identical proteins and their annotated locations for XP_011541996.1

    UniProtKB/Swiss-Prot
    Q68DE5, Q8WUL3, Q96KG7
    Conserved Domains (3) summary
    smart00180
    Location:281 → 318
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    pfam07546
    Location:32 → 99
    EMI; EMI domain
    cl21504
    Location:542 → 587
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...

  3. XM_017009988.2 → XP_016865477.1  multiple epidermal growth factor-like domains protein 10 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    127749142..127981009
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054353700.1 → XP_054209675.1  multiple epidermal growth factor-like domains protein 10 isoform X1

  2. XM_054353701.1 → XP_054209676.1  multiple epidermal growth factor-like domains protein 10 isoform X2

    UniProtKB/Swiss-Prot
    Q68DE5, Q8WUL3, Q96KG7

  3. XM_054353702.1 → XP_054209677.1  multiple epidermal growth factor-like domains protein 10 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96KG7.1 GenPept UniProtKB/Swiss-Prot:Q96KG7

Gene LinkOut

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