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

Gene ID: 84466, updated on 7-Dec-2014
Official Symbol
MEGF10provided by HGNC
Official Full Name
multiple EGF-like-domains 10provided by HGNC
Primary source
HGNC:HGNC:29634
See related
Ensembl:ENSG00000145794; HPRD:14384; MIM:612453; Vega:OTTHUMG00000128984
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]
See MEGF10 in Epigenomics, MapViewer
Location:
5q33
Exon count:
26
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 5 NC_000005.10 (127290764..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-like Neighboring gene uncharacterized LOC102723571 Neighboring gene heterogeneous nuclear ribonucleoprotein K pseudogene 1 Neighboring gene proline-rich coiled-coil 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Myopathy, areflexia, respiratory distress, and dysphagia, early-onset
MedGen: CN119527 OMIM: 614399 GeneReviews: Not available
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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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ41574, KIAA1780, DKFZp781K1852

Gene Ontology Provided by GOA

Process Evidence Code Pubs
homotypic cell-cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
muscle cell development IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
basolateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
phagocytic cup IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
multiple epidermal growth factor-like domains protein 10
Names
multiple epidermal growth factor-like domains protein 10

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_032072.1 

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

mRNA and Protein(s)

  1. NM_001256545.1NP_001243474.1  multiple epidermal growth factor-like domains protein 10 precursor

    See proteins identical to NP_001243474.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AC008402, AC008682, AC010424, DA240513, DA738723
    Consensus CDS
    CCDS4142.1
    UniProtKB/Swiss-Prot
    Q96KG7
    Related
    ENSP00000423354, OTTHUMP00000223094, ENST00000503335, OTTHUMT00000371493
    Conserved Domains (2) summary
    cd00055
    Location:281317
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam07546
    Location:30102
    EMI; EMI domain
  2. NM_032446.2NP_115822.1  multiple epidermal growth factor-like domains protein 10 precursor

    See proteins identical to NP_115822.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB058676, AC008682, AC010424, DA240513
    Consensus CDS
    CCDS4142.1
    UniProtKB/Swiss-Prot
    Q96KG7
    Related
    ENSP00000274473, OTTHUMP00000159235, ENST00000274473, OTTHUMT00000250973
    Conserved Domains (2) summary
    cd00055
    Location:281317
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam07546
    Location:30102
    EMI; EMI domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000005.10 

    Range
    127290764..127461222
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006714722.1XP_006714785.1  

    Conserved Domains (2) summary
    cd00055
    Location:250286
    EGF_Lam; Laminin-type epidermal growth factor-like domain; laminins are the major noncollagenous components of basement membranes that mediate cell adhesion, growth migration, and differentiation; the laminin-type epidermal growth factor-like module occurs in ...
    pfam07546
    Location:30102
    EMI; EMI domain

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 

    Range
    126059059..126229496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000137.1 

    Range
    121817526..121988151
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)