Megf8 multiple EGF-like-domains 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Megf8provided by MGI
Official Full Name: multiple EGF-like-domains 8provided by MGI
Primary source: MGI:MGI:2446294
See related: Ensembl:ENSMUSG00000045039 AllianceGenome:MGI:2446294
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Egfl4; m687Ddg; b2b288Clo; mKIAA0817; b2b1702Clo; b2b1702.2Clo
Summary: Predicted to enable calcium ion binding activity. Involved in several processes, including embryonic organ development; generation of neurons; and negative regulation of smoothened signaling pathway. Acts upstream of or within coronary vasculature development; determination of digestive tract left/right asymmetry; and determination of heart left/right asymmetry. Located in nucleus. Is expressed in several structures, including branchial arch; ganglia; heart; limb bud; and telencephalon. Used to study Carpenter syndrome and visceral heterotaxy. Human ortholog(s) of this gene implicated in Carpenter syndrome. Orthologous to human MEGF8 (multiple EGF like domains 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary adult (RPKM 41.0), adrenal adult (RPKM 38.1) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 A3; 7 13.75 cM

Exon count:: 41

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (25016589..25065342)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (25316738..25365917)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development.
Title: Spatial and temporal deletion reveals a latent effect of Megf8 on the left-right patterning and heart development.
Megf8 attenuates signaling through the Hedgehog pathway by reducing levels of Smoothened at the cell surface and the primary cilium. Mutations in Megf8 lead to cardiac defects, limb defects, left-right patterning defects and craniofacial anomalies.
Title: CRISPR Screens Uncover Genes that Regulate Target Cell Sensitivity to the Morphogen Sonic Hedgehog.
Megf8 is involved in mediating BMP4 signaling and guidance of developing trigeminal ganglia axons.
Title: MEGF8 is a modifier of BMP signaling in trigeminal sensory neurons.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Gene trapped (1)
Targeted (4) 1 citation
Chemically induced (ENU) (4) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell migration involved in gastrulation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within coronary vasculature development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in craniofacial suture morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of digestive tract left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of digestive tract left/right asymmetry	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within determination of heart left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of heart left/right asymmetry	ISO Inferred from Sequence Orthology more info	PubMed
involved_in determination of heart left/right asymmetry	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic brain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digit morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic heart tube left/right pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic heart tube morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epiboly involved in gastrulation with mouth forming second	ISO Inferred from Sequence Orthology more info
NOT acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in fasciculation of sensory neuron axon	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within left/right pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in left/right pattern formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in left/right pattern formation	ISO Inferred from Sequence Orthology more info
involved_in limb morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pharyngeal arch artery morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of axon extension involved in axon guidance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
NOT located_in membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: multiple epidermal growth factor-like domains protein 8

Names: EGF-like protein 4; EGF-like-domain, multiple 4; epidermal growth factor-like protein 4; multiple EGF-like domains protein 8

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.

mRNA and Protein(s)

NM_001160400.1 → NP_001153872.1 multiple epidermal growth factor-like domains protein 8 precursor

See identical proteins and their annotated locations for NP_001153872.1

Status: VALIDATED

Source sequence(s)

AC156992, AK122377

Consensus CDS

CCDS52148.1

UniProtKB/Swiss-Prot

B3GR00, P60882, Q80TR3, Q80V41, Q8BMN9, Q8JZW7, Q8K0J3

Related

ENSMUSP00000122192.2, ENSMUST00000128119.2

Conserved Domains (10) summary

PLN02153
Location:1540 → 1763

PLN02153; epithiospecifier protein

cd00041
Location:49 → 139

CUB; CUB domain; extracellular domain; present in proteins mostly known to be involved in development; not found in prokaryotes, plants and yeast.

cd00055
Location:1210 → 1259

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 ...

sd00038
Location:228 → 275

Kelch; KELCH repeat [structural motif]

pfam01437
Location:950 → 998

PSI; Plexin repeat

pfam12947
Location:1078 → 1112

EGF_3; EGF domain

pfam13415
Location:1630 → 1680

Kelch_3; Galactose oxidase, central domain

pfam13418
Location:227 → 276

Kelch_4; Galactose oxidase, central domain

pfam13964
Location:1728 → 1775

Kelch_6; Kelch motif

cl00057
Location:1011 → 1035

vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...