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

    Gene ID: 84466, updated on 27-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
    mouse all
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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
    • 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)

    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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    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

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