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Eps8 Gene Detail
Summary
  • Symbol
    Eps8
  • Name
    epidermal growth factor receptor pathway substrate 8
  • Feature Type
    protein coding gene
  • IDs
    MGI:104684
    NCBI Gene: 13860
  • Gene Overview
    MyGene.info: EPS8
Location & Maps
more
  • Sequence Map
    Chr6:137477245-137654876 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      177632 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 66.78 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EPS8, epidermal growth factor receptor pathway substrate 8
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EPS8, epidermal growth factor receptor pathway substrate 8
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DFNB102
  • Links
    NCBI Gene ID: 2059
    neXtProt AC: NX_Q12929

  • Chr Location
    12p12.3; chr12:15620141-15789576 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 3272
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: EPS8
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human EPS8 associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 102; DFNB102   OMIM: 615974
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    9 phenotypes from 1 allele in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    18 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    87
  • Gene trapped
    85
  • Targeted
    2
  • Incidental Mutations
Homozygous mutation of this gene results in resistance to some of the intoxicating effects of ethanol and increased ethanol consumption. NMDA receptor currents and their sensitivity to inhibition by ethanol are abnormal.
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
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022767 VEGA Gene Model | MGI Sequence Detail 177632 C57BL/6J ±  kb
transcript OTTMUST00000054652 VEGA | MGI Sequence Detail 4567 Not Applicable  
polypeptide OTTMUSP00000026105 VEGA | MGI Sequence Detail 821 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    3295 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 16
    cDNA 14
    Primer pair 1
    Other 1

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-27047, MGI:2141675
References
more
  • Summaries
    All 59
    Developmental Gene Expression 7
    Gene Ontology 17
    Phenotypes 18
  • Earliest
    J:34029 Fazioli F, et al., Eps8, a substrate for the epidermal growth factor receptor kinase, enhances EGF-dependent mitogenic signals. EMBO J. 1993 Oct;12(10):3799-808
  • Latest
    J:230723 Giampietro C, et al., The actin-binding protein EPS8 binds VE-cadherin and modulates YAP localization and signaling. J Cell Biol. 2015 Dec 21;211(6):1177-92

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
09/20/2016
MGI 6.05
The Jackson Laboratory