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    ETV4 ETS variant transcription factor 4 [ Homo sapiens (human) ]

    Gene ID: 2118, updated on 3-Apr-2024

    Summary

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    Official Symbol
    ETV4provided by HGNC
    Official Full Name
    ETS variant transcription factor 4provided by HGNC
    Primary source
    HGNC:HGNC:3493
    See related
    Ensembl:ENSG00000175832 MIM:600711; AllianceGenome:HGNC:3493
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E1AF; PEA3; E1A-F; PEAS3
    Summary
    Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of keratinocyte differentiation and positive regulation of transcription by RNA polymerase II. Located in chromosome and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in thyroid (RPKM 3.5), brain (RPKM 3.4) and 20 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ETV4 in Genome Data Viewer
    Location:
    17q21.31
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43527846..43546340, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44380321..44398821, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (41605214..41623708, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41561036-41561878 Neighboring gene U7 small nuclear RNA Neighboring gene ribosomal protein L29 pseudogene 31 Neighboring gene DEAH-box helicase 8 Neighboring gene Sharpr-MPRA regulatory region 5739 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41605963-41606504 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41617770-41618270 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:41622297-41623074 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41623075-41623852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41632016-41632516 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12245 Neighboring gene Sharpr-MPRA regulatory region 2376 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:41656377-41656994 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41669551-41670050 Neighboring gene uncharacterized LOC124904008 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41705361-41705862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41729461-41729960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:41738043-41738584 Neighboring gene mesenchyme homeobox 1

    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. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract. Kolvenbach CM, et al. Am J Med Genet A, 2023 May. PMID 36694287, Free PMC Article
    2. ETV4 Mediated Tumor-Associated Neutrophil Infiltration Facilitates Lymphangiogenesis and Lymphatic Metastasis of Bladder Cancer. Zhang Q, et al. Adv Sci (Weinh), 2023 Apr. PMID 36670069, Free PMC Article
    3. ETV4 transcriptionally activates HES1 and promotes Stat3 phosphorylation to promote malignant behaviors of colon adenocarcinoma. Yao D, et al. Cell Biol Int, 2021 Oct. PMID 34270850
    4. ETV4 plays a role on the primary events during the adenoma-adenocarcinoma progression in colorectal cancer. Fonseca AS, et al. BMC Cancer, 2021 Mar 1. PMID 33648461, Free PMC Article
    5. ETV4 promotes late development of prostatic intraepithelial neoplasia and cell proliferation through direct and p53-mediated downregulation of p21. Cosi I, et al. J Hematol Oncol, 2020 Aug 13. PMID 32791988, Free PMC Article

    See all (132) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ETV4-Dependent Transcriptional Plasticity Maintains MYC Expression and Results in IMiD Resistance in Multiple Myeloma.
      Title: ETV4-Dependent Transcriptional Plasticity Maintains MYC Expression and Results in IMiD Resistance in Multiple Myeloma.
    2. The Mediating Role of miR-451/ETV4/MMP13 Signaling Axis on Epithelialmesenchymal Transition in Promoting Non-small Cell Lung Cancer Progression.
      Title: The Mediating Role of miR-451/ETV4/MMP13 Signaling Axis on Epithelialmesenchymal Transition in Promoting Non-small Cell Lung Cancer Progression.
    3. Differential expression of PEA3 in odontogenic cysts and tumors.
      Title: Differential expression of PEA3 in odontogenic cysts and tumors.
    4. Down-regulated MiRNA 29-b as a diagnostic marker in colorectal cancer and its correlation with ETV4 and Cyclin D1 immunohistochemical expression.
      Title: Down-regulated MiRNA 29-b as a diagnostic marker in colorectal cancer and its correlation with ETV4 and Cyclin D1 immunohistochemical expression.
    5. Identification and characterization of novel ETV4 splice variants in prostate cancer.
      Title: Identification and characterization of novel ETV4 splice variants in prostate cancer.
    6. ETV4 Mediated Tumor-Associated Neutrophil Infiltration Facilitates Lymphangiogenesis and Lymphatic Metastasis of Bladder Cancer.
      Title: ETV4 Mediated Tumor-Associated Neutrophil Infiltration Facilitates Lymphangiogenesis and Lymphatic Metastasis of Bladder Cancer.
    7. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
      Title: A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract.
    8. ETV4 potentiates nuclear YAP retention and activities to enhance the progression of hepatocellular carcinoma.
      Title: ETV4 potentiates nuclear YAP retention and activities to enhance the progression of hepatocellular carcinoma.
    9. ETV4 mediated lncRNA C2CD4D-AS1 overexpression contributes to the malignant phenotype of lung adenocarcinoma cells via miR-3681-3p/NEK2 axis.
      Title: ETV4 mediated lncRNA C2CD4D-AS1 overexpression contributes to the malignant phenotype of lung adenocarcinoma cells via miR-3681-3p/NEK2 axis.
    10. HBx increases chromatin accessibility and ETV4 expression to regulate dishevelled-2 and promote HCC progression.
      Title: HBx increases chromatin accessibility and ETV4 expression to regulate dishevelled-2 and promote HCC progression.
    Submit: New GeneRIF Correction See all GeneRIFs (98)

    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

    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

    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 DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of keratinocyte differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ETS translocation variant 4
    Names
    EWS protein/E1A enhancer binding protein chimera
    adenovirus E1A enhancer-binding protein
    ets variant gene 4 (E1A enhancer-binding protein, E1AF)
    polyomavirus enhancer activator 3 homolog

    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.

    mRNA and Protein(s)

    1. NM_001079675.5 → NP_001073143.1  ETS translocation variant 4 isoform 1

      See identical proteins and their annotated locations for NP_001073143.1

      Status: VALIDATED

      Source sequence(s)
      AC068675
      Consensus CDS
      CCDS11465.1
      UniProtKB/Swiss-Prot
      A8K314, B7Z5J3, B7Z9J6, P43268, Q96AW9
      UniProtKB/TrEMBL
      B7Z5F4
      Related
      ENSP00000321835.4, ENST00000319349.10
      Conserved Domains (2) summary
      smart00413
      Location:341 → 424
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:8 → 339
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    2. NM_001261437.3 → NP_001248366.1  ETS translocation variant 4 isoform 2

      See identical proteins and their annotated locations for NP_001248366.1

      Status: VALIDATED

      Source sequence(s)
      AC068675
      Consensus CDS
      CCDS58553.1
      UniProtKB/TrEMBL
      B7Z5F4
      Related
      ENSP00000440023.1, ENST00000545954.5
      Conserved Domains (2) summary
      smart00413
      Location:302 → 385
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:8 → 300
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    3. NM_001261438.3 → NP_001248367.1  ETS translocation variant 4 isoform 2

      See identical proteins and their annotated locations for NP_001248367.1

      Status: VALIDATED

      Source sequence(s)
      AC068675
      Consensus CDS
      CCDS58553.1
      UniProtKB/TrEMBL
      B7Z5F4
      Related
      ENSP00000443846.1, ENST00000538265.5
      Conserved Domains (2) summary
      smart00413
      Location:302 → 385
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:8 → 300
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    4. NM_001261439.3 → NP_001248368.1  ETS translocation variant 4 isoform 3

      See identical proteins and their annotated locations for NP_001248368.1

      Status: VALIDATED

      Source sequence(s)
      AC068675
      Consensus CDS
      CCDS59292.1
      UniProtKB/Swiss-Prot
      P43268
      Related
      ENSP00000468636.1, ENST00000586826.1
      Conserved Domains (2) summary
      smart00413
      Location:64 → 147
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:1 → 62
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    5. NM_001369366.2 → NP_001356295.1  ETS translocation variant 4 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC068675
      Consensus CDS
      CCDS11465.1
      UniProtKB/Swiss-Prot
      A8K314, B7Z5J3, B7Z9J6, P43268, Q96AW9
      UniProtKB/TrEMBL
      B7Z5F4
      Conserved Domains (2) summary
      smart00413
      Location:341 → 424
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:8 → 339
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    6. NM_001369367.2 → NP_001356296.1  ETS translocation variant 4 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC068675
      UniProtKB/TrEMBL
      B7Z5F4
      Conserved Domains (2) summary
      smart00413
      Location:340 → 423
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:8 → 338
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    7. NM_001369368.2 → NP_001356297.1  ETS translocation variant 4 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC068675
      UniProtKB/TrEMBL
      B7Z5F4
      Conserved Domains (2) summary
      smart00413
      Location:336 → 419
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:8 → 334
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    8. NM_001986.4 → NP_001977.1  ETS translocation variant 4 isoform 1

      See identical proteins and their annotated locations for NP_001977.1

      Status: VALIDATED

      Source sequence(s)
      AC068675
      Consensus CDS
      CCDS11465.1
      UniProtKB/Swiss-Prot
      A8K314, B7Z5J3, B7Z9J6, P43268, Q96AW9
      UniProtKB/TrEMBL
      B7Z5F4
      Related
      ENSP00000465718.1, ENST00000591713.5
      Conserved Domains (2) summary
      smart00413
      Location:341 → 424
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:8 → 339
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      43527846..43546340 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435593.1 → XP_047291549.1  ETS translocation variant 4 isoform X2

    2. XM_047435592.1 → XP_047291548.1  ETS translocation variant 4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      44380321..44398821 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054315422.1 → XP_054171397.1  ETS translocation variant 4 isoform X3

    2. XM_054315423.1 → XP_054171398.1  ETS translocation variant 4 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P43268.3 GenPept UniProtKB/Swiss-Prot:P43268

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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