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EPS8 EGFR pathway substrate 8, signaling adaptor [ Homo sapiens (human) ]

Gene ID: 2059, updated on 3-Apr-2024

Summary

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Official Symbol
EPS8provided by HGNC
Official Full Name
EGFR pathway substrate 8, signaling adaptorprovided by HGNC
Primary source
HGNC:HGNC:3420
See related
Ensembl:ENSG00000151491 MIM:600206; AllianceGenome:HGNC:3420
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
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Genomic context

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See EPS8 in Genome Data Viewer
Location:
12p12.3
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (15620134..15789388, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (15497359..15666619, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (15773068..15942322, 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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:15678492-15679691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6067 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr12:15687897-15689096 Neighboring gene uncharacterized LOC105369672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6068 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6070 Neighboring gene HNF4 motif-containing MPRA enhancer 23 Neighboring gene RNA, U6 small nuclear 251, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4278 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4280 Neighboring gene uncharacterized LOC102724146 Neighboring gene mitochondrial ribosomal protein S7 pseudogene 2 Neighboring gene Sharpr-MPRA regulatory region 5867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6071

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss. Yu S, et al. Eur J Med Genet, 2021 Dec. PMID 34637946
  2. Effects and mechanisms of Eps8 on the biological behaviour of malignant tumours (Review). Luo K, et al. Oncol Rep, 2021 Mar. PMID 33432368, Free PMC Article
  3. Comparative proteomic analysis identifies exosomal Eps8 protein as a potential metastatic biomarker for pancreatic cancer. Ohshima K, et al. Oncol Rep, 2019 Feb. PMID 30431134
  4. EPS8 regulates proliferation, apoptosis and chemosensitivity in BCR-ABL positive cells via the BCR-ABL/PI3K/AKT/mTOR pathway. Huang R, et al. Oncol Rep, 2018 Jan. PMID 29192326, Free PMC Article
  5. Eps8 expression is significantly lower in p16(+) head and neck squamous cell carcinomas (HNSCCs) compared with p16(-) HNSCCs. Nasri E, et al. Hum Pathol, 2018 Feb. PMID 29107665

See all (124) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Loss of EPS8 sensitizes non-small-cell lung carcinoma to chemotherapy-induced DNA damage.
    Title: Loss of EPS8 sensitizes non-small-cell lung carcinoma to chemotherapy-induced DNA damage.
  2. Targeting of microvillus protein Eps8 by the NleH effector kinases from enteropathogenic E. coli.
    Title: Targeting of microvillus protein Eps8 by the NleH effector kinases from enteropathogenic E. coli.
  3. Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss.
    Title: Apparent homozygosity for a novel splicing variant in EPS8 causes congenital profound hearing loss.
  4. Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex.
    Title: Phase separation-mediated condensation of Whirlin-Myo15-Eps8 stereocilia tip complex.
  5. The roles and prognostic significance of ABI1-TSV-11 expression in patients with left-sided colorectal cancer.
    Title: The roles and prognostic significance of ABI1-TSV-11 expression in patients with left-sided colorectal cancer.
  6. EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1.
    Title: EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1.
  7. Effects and mechanisms of Eps8 on the biological behaviour of malignant tumours (Review).
    Title: Effects and mechanisms of Eps8 on the biological behaviour of malignant tumours (Review).
  8. miR-345 inhibits migration and stem-like cell phenotype in gastric cancer via inactivation of Rac1 by targeting EPS8.
    Title: miR-345 inhibits migration and stem-like cell phenotype in gastric cancer via inactivation of Rac1 by targeting EPS8.
  9. LncRNA DSCAM-AS1 acts as a competing endogenous RNA of miR-137 and regulates EPS8 to promote cell reproduction and suppresses cell apoptosis in Tamoxifen-resistant breast cancer
    Title: LncRNA DSCAM-AS1 acts as a sponge of miR-137 to enhance Tamoxifen resistance in breast cancer.
  10. We identified EE02 as an EGFR/Eps8 complex inhibitor that demonstrated promising antitumor effects in breast cancer and non-small cell lung cancer (NSCLC). Our data suggest that the EGFR/Eps8 complex offers a novel cancer drug target.
    Title: A low-molecular-weight compound exerts anticancer activity against breast and lung cancers by disrupting EGFR/Eps8 complex formation.
Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive nonsyndromic hearing loss 102
MedGen: C3892050 OMIM: 615974 GeneReviews: Not available
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EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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 PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables actin binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in Rac protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in actin crosslink formation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in actin filament bundle assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in actin polymerization-dependent cell motility ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in barbed-end actin filament capping ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in behavioral response to ethanol IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
  
involved_in dendritic cell migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in exit from mitosis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of ruffle assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of actin filament length ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of cell shape ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of NMDA selective glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
  
located_in brush border IEA
Inferred from Electronic Annotation
more info
  
located_in cell cortex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in extracellular exosome HDA PubMed 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in growth cone IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in postsynaptic density IEA
Inferred from Electronic Annotation
more info
  
is_active_in ruffle membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ruffle membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in stereocilium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in stereocilium tip IEA
Inferred from Electronic Annotation
more info
  
located_in vesicle HDA PubMed 

General protein information

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Preferred Names
epidermal growth factor receptor kinase substrate 8
Names
epidermal growth factor receptor pathway substrate 8

NCBI Reference Sequences (RefSeq)

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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_041808.2 RefSeqGene

    Range
    5000..174254
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001413831.1 → NP_001400760.1  epidermal growth factor receptor kinase substrate 8 isoform a

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753

  2. NM_001413832.1 → NP_001400761.1  epidermal growth factor receptor kinase substrate 8 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753
    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
    Related
    ENSP00000495824.1, ENST00000645775.1

  3. NM_001413833.1 → NP_001400762.1  epidermal growth factor receptor kinase substrate 8 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753
    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
    Related
    ENSP00000442388.1, ENST00000543612.5

  4. NM_001413834.1 → NP_001400763.1  epidermal growth factor receptor kinase substrate 8 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753
    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

  5. NM_001413835.1 → NP_001400764.1  epidermal growth factor receptor kinase substrate 8 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753

  6. NM_001413836.1 → NP_001400765.1  epidermal growth factor receptor kinase substrate 8 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753

  7. NM_001413837.1 → NP_001400766.1  epidermal growth factor receptor kinase substrate 8 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753

  8. NM_001413838.1 → NP_001400767.1  epidermal growth factor receptor kinase substrate 8 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC092753
    Related
    ENSP00000441888.1, ENST00000540613.5

  9. NM_001413839.1 → NP_001400768.1  epidermal growth factor receptor kinase substrate 8 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753

  10. NM_001413840.1 → NP_001400769.1  epidermal growth factor receptor kinase substrate 8 isoform g

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753

  11. NM_004447.6 → NP_004438.3  epidermal growth factor receptor kinase substrate 8 isoform b

    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
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
    UniProtKB/TrEMBL
    A0A2R8Y4W2
    Related
    ENSP00000281172.5, ENST00000281172.10
    Conserved Domains (3) summary
    cd09540
    Location:720 → 784
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:535 → 588
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64 → 191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

RNA

  1. NR_182221.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753
    Related
    ENST00000543468.5

  2. NR_182222.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753

  3. NR_182223.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC073651, AC092753

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    15620134..15789388 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428497.1 → XP_047284453.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

  2. XM_024448882.2 → XP_024304650.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
    UniProtKB/TrEMBL
    A0A2R8Y4W2
    Conserved Domains (3) summary
    cd09540
    Location:720 → 784
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:535 → 588
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64 → 191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

  3. XM_024448878.2 → XP_024304646.1  epidermal growth factor receptor kinase substrate 8 isoform X2

    UniProtKB/TrEMBL
    A0A2R8Y4W2
    Conserved Domains (3) summary
    cd09540
    Location:731 → 795
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:546 → 599
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:75 → 202
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

  4. XM_047428498.1 → XP_047284454.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

  5. XM_047428494.1 → XP_047284450.1  epidermal growth factor receptor kinase substrate 8 isoform X1

  6. XM_047428496.1 → XP_047284452.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

  7. XM_047428495.1 → XP_047284451.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

  8. XM_047428499.1 → XP_047284455.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
    Related
    ENSP00000496406.1, ENST00000647087.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    15497359..15666619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371404.1 → XP_054227379.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

  2. XM_054371405.1 → XP_054227380.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

  3. XM_054371402.1 → XP_054227377.1  epidermal growth factor receptor kinase substrate 8 isoform X2

  4. XM_054371406.1 → XP_054227381.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

  5. XM_054371407.1 → XP_054227382.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0

  6. XM_054371403.1 → XP_054227378.1  epidermal growth factor receptor kinase substrate 8 isoform X3

    UniProtKB/Swiss-Prot
    A6NMC3, A8K6W2, A8KA66, B4DX66, Q12929, Q8N6J0
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q12929.1 GenPept UniProtKB/Swiss-Prot:Q12929

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