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Megf8 Gene Detail
Summary
  • Symbol
    Megf8
  • Name
    multiple EGF-like-domains 8
  • Synonyms
    b2b1702Clo, b2b288Clo, Egfl4, m687Ddg, mKIAA0817
  • Feature Type
    protein coding gene
  • IDs
    MGI:2446294
    NCBI Gene: 269878
Location & Maps
more
  • Sequence Map
    Chr7:25317164-25365917 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      48754 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 13.75 cM
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    MEGF8, multiple EGF like domains 8
  • Vertebrate Orthologs
    9
  • Human Ortholog
    MEGF8, multiple EGF like domains 8
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C19orf49, CRPT2, EGFL4, SBP1
  • Links
    NCBI Gene ID: 1954
    neXtProt AC: NX_Q7Z7M0

  • Chr Location
    19q12; chr19:42325609-42378769 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Megf8 mouse models; 1 with human MEGF8 associations

Human Disease Mouse Models
       Carpenter Syndrome 2; CRPT2   OMIM: 614976 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    70 phenotypes from 7 alleles in 10 genetic backgrounds
    17 images
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    9
  • Chemically induced (ENU)
    4
  • Gene trapped
    2
  • Targeted
    3
  • Incidental Mutations
Mice homozygous for an ENU mutation exhibit varying degrees of heterotaxia and congenital heart defects. Mice homozygous for another ENU-induced mutation exhibit abnormal development and patterning of the peripheral nervous system.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033805 VEGA Gene Model | MGI Sequence Detail 48754 C57BL/6J ±  kb
transcript OTTMUST00000085155 VEGA | MGI Sequence Detail 10040 Not Applicable  
polypeptide OTTMUSP00000045973 VEGA | MGI Sequence Detail 2789 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    292 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 81
    Genomic 1
    cDNA 80

    Microarray probesets 3
Other
Accession IDs
less
MGI:2142194, MGI:4455306, MGI:5311335, MGI:5437069
References
more
  • Summaries
    All 33
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 7
    Phenotypes 9
  • Earliest
    J:82808 Strausberg RL, et al., Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903
  • Latest
    J:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory