About   Help   FAQ
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
  • Alliance
  • Transcription Start Sites
    14 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:137477245-137649397 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 66.78 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3219 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104684
protein coding gene Chr6:137477245-137654876 (-)
129S1/SvImJ MGP_129S1SvImJ_G0031436
protein coding gene Chr6:142019196-142209675 (-)
A/J MGP_AJ_G0031411
protein coding gene Chr6:136424499-136602469 (-)
AKR/J MGP_AKRJ_G0031339
protein coding gene Chr6:140577907-140755524 (-)
BALB/cJ MGP_BALBcJ_G0031418
protein coding gene Chr6:136271591-136450332 (-)
C3H/HeJ MGP_C3HHeJ_G0031140
protein coding gene Chr6:140591925-140771466 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031880
protein coding gene Chr6:145854983-146047285 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0029009
protein coding gene Chr6:135467790-135647682 (-)
CAST/EiJ MGP_CASTEiJ_G0030508
protein coding gene Chr6:140085483-140268056 (-)
CBA/J MGP_CBAJ_G0031100
protein coding gene Chr6:151407161-151609378 (-)
DBA/2J MGP_DBA2J_G0031257
protein coding gene Chr6:135278894-135459091 (-)
FVB/NJ MGP_FVBNJ_G0031208
protein coding gene Chr6:134150856-134331537 (-)
LP/J MGP_LPJ_G0031341
protein coding gene Chr6:142143245-142328312 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0031248
protein coding gene Chr6:155223211-155418100 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031912
protein coding gene Chr6:140295933-140480277 (-)
PWK/PhJ MGP_PWKPhJ_G0030235
protein coding gene Chr6:133756908-133938232 (-)
SPRET/EiJ MGP_SPRETEiJ_G0030059
protein coding gene Chr6:138544558-138723062 (-)
WSB/EiJ MGP_WSBEiJ_G0030601
protein coding gene Chr6:140941477-141128087 (-)



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
    UniProt: Q12929

  • Chr Location
    12p12.3; chr12:15620141-15789576 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    9 phenotypes from 1 allele in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    1 images
    20 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 13860 NCBI Gene Model | MGI Sequence Detail 172153 C57BL/6J ±  kb
transcript NM_007945 RefSeq | MGI Sequence Detail 4567 C57BL/6  
polypeptide Q08509 UniProt | EBI | MGI Sequence Detail 821 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 17
    cDNA 15
    Primer pair 1
    Other 1

    Microarray probesets 5
Other
Accession IDs
less
MGD-MRK-27047, MGI:2141675
References
more
  • Summaries
    All 69
    Developmental Gene Expression 9
    Gene Ontology 23
    Phenotypes 20
  • 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:244562 Giese APJ, et al., CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. Nat Commun. 2017 Jun 29;8(1):43

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
11/13/2018
MGI 6.13
The Jackson Laboratory