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Eps8
Gene Detail
Symbol

Name
ID
Eps8
epidermal growth factor receptor pathway substrate 8
MGI:104684
Feature Type
protein coding gene
Genetic Map
Chromosome 6
66.78 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr6:137477245-137654876 bp, - strand
From VEGA annotation of GRCm38

  177632 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3272  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: EPS8
Gene Tree: Eps8

Human
homologs
EPS8, epidermal growth factor receptor pathway substrate 8
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2059
neXtProt AC: NX_Q12929

Human Synonyms: DFNB102

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

Disease Associations: (1) Diseases Associated with Human EPS8

Mutations,
alleles, and
phenotypes
All mutations/alleles(87) : Gene trapped(85) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Eps8 interacts with 295 markers (Mir7-1, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (44 annotations)
Process actin crosslink formation, actin cytoskeleton reorganization, ...
Component brush border, cell cortex, ...
Function actin binding, protein binding, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (242)    Tissues (108)    Images (39)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 223
Northern blot 8
RT-PCR 11
cDNA source data(14)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase eps8 ; ZFIN eps8    NEW 
Molecular
reagents
All nucleic(16) cDNA(14) Primer pair(1) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000022767 (Evidence)
Ensembl Gene Model ENSMUSG00000015766 (Evidence)
Entrez Gene 13860 (Evidence)
DFCI TC1656653, TC1613539, TC1576874, TC1702523
DoTS DT.110484208, DT.101380644, DT.97382552, DT.91592857, DT.97375955, DT.94151440
NIA Mouse Gene Index U027983
PDB 1I0C, 1AOJ, 1I07
Consensus CDS Project CCDS20665.1
International Mouse Phenotyping Consortium Status Eps8
Sequences
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 sequences
All sequences(97) RefSeq(14) UniProt(8)
Polymorphisms
SNPs within 2kb(3593 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006020 Phosphotyrosine interaction domain
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR001452 Src homology-3 domain
InterPro IPR013625 Tensin phosphotyrosine-binding domain
Protein Ontology PR:000007147 epidermal growth factor receptor kinase substrate 8
References
(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:215946 Behlouli A, et al., EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. Orphanet J Rare Dis. 2014;9:55
All references(61)
Other
accession IDs
MGD-MRK-27047, MGI:2141675

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory