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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
    mouse all
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    Genomic context

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    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
    		Compare labs

    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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