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EPS8 epidermal growth factor receptor pathway substrate 8 [ Homo sapiens (human) ]

Gene ID: 2059, updated on 6-Jan-2019

Summary

Official Symbol
EPS8provided by HGNC
Official Full Name
epidermal growth factor receptor pathway substrate 8provided by HGNC
Primary source
HGNC:HGNC:3420
See related
Ensembl:ENSG00000151491 MIM:600206
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DFNB102
Summary
This gene encodes a member of the EPS8 family. This protein contains one PH domain and one SH3 domain. It functions as part of the EGFR pathway, though its exact role has not been determined. Highly similar proteins in other organisms are involved in the transduction of signals from Ras to Rac and growth factor-mediated actin remodeling. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in gall bladder (RPKM 34.8), fat (RPKM 34.0) and 24 other tissues See more
Orthologs

Genomic context

See EPS8 in Genome Data Viewer
Location:
12p12.3
Exon count:
26
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (15620141..15789576, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15773075..15942510, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene protein tyrosine phosphatase, receptor type O Neighboring gene ribosomal protein S2 pseudogene 42 Neighboring gene uncharacterized LOC105369672 Neighboring gene HNF4 motif-containing MPRA enhancer 23 Neighboring gene RNA, U6 small nuclear 251, pseudogene Neighboring gene uncharacterized LOC102724146 Neighboring gene mitochondrial ribosomal protein S7 pseudogene 2 Neighboring gene serine/threonine kinase receptor associated protein

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Deafness, autosomal recessive 102
MedGen: C3892050 OMIM: 615974 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of epidermal growth factor receptor pathway substrate 8 (EPS8) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Rac GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
 
contributes_to Rac guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
SH3/SH2 adaptor activity TAS
Traceable Author Statement
more info
PubMed 
actin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
Rac protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
actin crosslink formation ISS
Inferred from Sequence or Structural Similarity
more info
 
actin cytoskeleton reorganization IEA
Inferred from Electronic Annotation
more info
 
actin filament bundle assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
actin polymerization-dependent cell motility ISS
Inferred from Sequence or Structural Similarity
more info
 
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
barbed-end actin filament capping ISS
Inferred from Sequence or Structural Similarity
more info
 
behavioral response to ethanol IEA
Inferred from Electronic Annotation
more info
 
cell proliferation TAS
Traceable Author Statement
more info
PubMed 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
dendritic cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
exit from mitosis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of ruffle assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of actin filament length ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
NMDA selective glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
brush border IEA
Inferred from Electronic Annotation
more info
 
cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
 
cell junction IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
growth cone IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
postsynaptic density IEA
Inferred from Electronic Annotation
more info
 
ruffle membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ruffle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
stereocilium ISS
Inferred from Sequence or Structural Similarity
more info
 
stereocilium tip IEA
Inferred from Electronic Annotation
more info
 
vesicle HDA PubMed 

General protein information

Preferred Names
epidermal growth factor receptor kinase substrate 8

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_041808.1 RefSeqGene

    Range
    5001..174437
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004447.6NP_004438.3  epidermal growth factor receptor kinase substrate 8

    See identical proteins and their annotated locations for NP_004438.3

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753
    Consensus CDS
    CCDS31753.1
    UniProtKB/Swiss-Prot
    Q12929
    UniProtKB/TrEMBL
    B4E3T6
    Related
    ENSP00000281172.5, ENST00000281172.9
    Conserved Domains (3) summary
    cd09540
    Location:720784
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:535588
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    15620141..15789576 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520605.3XP_011518907.1  epidermal growth factor receptor kinase substrate 8 isoform X1

    Related
    ENSP00000495312.1, ENST00000642939.1
    Conserved Domains (3) summary
    cd09540
    Location:740804
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:555608
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:84211
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  2. XM_024448882.1XP_024304650.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    Related
    ENSP00000496406.1, ENST00000647087.1
    Conserved Domains (3) summary
    cd09540
    Location:720784
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:535588
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  3. XM_024448878.1XP_024304646.1  epidermal growth factor receptor kinase substrate 8 isoform X2

    Conserved Domains (3) summary
    cd09540
    Location:731795
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:546599
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:75202
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  4. XM_024448880.1XP_024304648.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    Related
    ENSP00000442388.1, ENST00000543612.5
    Conserved Domains (3) summary
    cd09540
    Location:720784
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:535588
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  5. XM_024448879.1XP_024304647.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    Conserved Domains (3) summary
    cd09540
    Location:720784
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:535588
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  6. XM_024448881.1XP_024304649.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    Conserved Domains (3) summary
    cd09540
    Location:720784
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:535588
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
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