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

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; 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; 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

Location:: 5q23.2

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (127229300..127461222)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (127749142..127981009)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (126626488..126796914)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

[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].
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.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs
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 EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

RH120476 (e-PCR)
- UniSTS:133641

SHGC-34560 (e-PCR)
- UniSTS:83222

SHGC-105973 (e-PCR)
- UniSTS:169530

RH65273 (e-PCR)
- UniSTS:66118

SHGC-81475 (e-PCR)
- UniSTS:103505

MEGF10 (e-PCR)
- UniSTS:504913

SHGC-142712 (e-PCR)
- UniSTS:171606

bac53144T (e-PCR)
- UniSTS:181592

SHGC-106891 (e-PCR)
- UniSTS:183995

bac51467T (e-PCR)
- UniSTS:181465

RH118453 (e-PCR)
- UniSTS:109280

WI-13521 (e-PCR)
- UniSTS:62957

SHGC-105805 (e-PCR)
- UniSTS:169460

L28280 (e-PCR)
- UniSTS:40696

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

NG_032072.3 RefSeqGene

Range

66498..236924

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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
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
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_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

127229300..127461222

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017009987.2 → XP_016865476.1 multiple epidermal growth factor-like domains protein 10 isoform X1
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 ...
XM_017009988.2 → XP_016865477.1 multiple epidermal growth factor-like domains protein 10 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

127749142..127981009

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054353700.1 → XP_054209675.1 multiple epidermal growth factor-like domains protein 10 isoform X1
XM_054353701.1 → XP_054209676.1 multiple epidermal growth factor-like domains protein 10 isoform X2

UniProtKB/Swiss-Prot

Q68DE5, Q8WUL3, Q96KG7
XM_054353702.1 → XP_054209677.1 multiple epidermal growth factor-like domains protein 10 isoform X3