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

Gene ID: 84466, updated on 13-Feb-2019

Summary

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
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
EMARDD
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

Genomic context

See MEGF10 in Genome Data Viewer
Location:
5q23.2
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (127229519..127461222)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (126565206..126796914)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene putative RNA-binding protein 15 Neighboring gene mitochondrial ribosomal protein S5 pseudogene 3 Neighboring gene selenoprotein T pseudogene 2 Neighboring gene uncharacterized LOC105379198 Neighboring gene uncharacterized LOC105379199 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 1 Neighboring gene proline rich coiled-coil 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
MedGen: C3280679 OMIM: 614399 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41574, KIAA1780, DKFZp781K1852

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
multiple epidermal growth factor-like domains protein 10

NCBI Reference Sequences (RefSeq)

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_032072.2 RefSeqGene

    Range
    5001..175459
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256545.2NP_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
    Q96KG7
    Related
    ENSP00000423354.2, ENST00000503335.6
    Conserved Domains (3) summary
    smart00180
    Location:281318
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    pfam07546
    Location:3299
    EMI; EMI domain
    cl21504
    Location:542587
    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_001308119.1NP_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:3299
    EMI; EMI domain
  3. NM_001308121.1NP_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:3299
    EMI; EMI domain
  4. NM_032446.2NP_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
    Q96KG7
    Related
    ENSP00000274473.6, ENST00000274473.6
    Conserved Domains (3) summary
    smart00180
    Location:281318
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    pfam07546
    Location:3299
    EMI; EMI domain
    cl21504
    Location:542587
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

    Range
    127229519..127461222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_011543694.1XP_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
    Q96KG7
    Conserved Domains (3) summary
    smart00180
    Location:281318
    EGF_Lam; Laminin-type epidermal growth factor-like domai
    pfam07546
    Location:3299
    EMI; EMI domain
    cl21504
    Location:542587
    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_017009988.1XP_016865477.1  multiple epidermal growth factor-like domains protein 10 isoform X3

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