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

Gene ID: 2118, updated on 5-Aug-2026
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, Jul 2025]
Expression
Broad expression in thyroid (RPKM 3.5), brain (RPKM 3.4) and 20 other tissues See more
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See ETV4 in Genome Data Viewer
Location:
17q21.31
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (43527846..43546340, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44380321..44398821, complement)
RS_2024_09 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

Go to nucleotide: Graphics FASTA GenBank

Related articles in PubMed

  1. Association of ets-related transcriptional factor E1AF expression with tumour progression and overexpression of MMP-1 and matrilysin in human colorectal cancer. Horiuchi S, et al. J Pathol, 2003 Aug. PMID 12898592
  2. Expression of E1AF/PEA3, an Ets-related transcription factor in human non-small-cell lung cancers: its relevance in cell motility and invasion. Hiroumi H, et al. Int J Cancer, 2001 Sep. PMID 11519038
  3. Heat shock protein family A member 8 serving as a co-activator of transcriptional factor ETV4 up-regulates PHLDA2 to promote the growth of liver cancer. Wang S, et al. Acta Pharmacol Sin, 2023 Dec. PMID 37474643, Free PMC Article
  4. Adenovirus vector designed for expression of toxic proteins. Edholm D, et al. J Virol, 2001 Oct. PMID 11559789, Free PMC Article
  5. The role of ETV4 in HCC: How transcription factors can inform immunotherapy combination treatments. Craig AJ, et al. J Hepatol, 2023 Jul. PMID 37088313

See all (248) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Transcription Factor ETV4 Activates AURKA to Promote PD-L1 Expression and Mediate Immune Escape in Lung Adenocarcinoma.
    Title: Transcription Factor ETV4 Activates AURKA to Promote PD-L1 Expression and Mediate Immune Escape in Lung Adenocarcinoma.
  2. ETV4 is a mechanical transducer linking cell crowding dynamics to lineage specification.
    Title: ETV4 is a mechanical transducer linking cell crowding dynamics to lineage specification.
  3. An oncogenic enhancer promotes melanoma progression via regulating ETV4 expression.
    Title: An oncogenic enhancer promotes melanoma progression via regulating ETV4 expression.
  4. 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.
  5. 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.
  6. Differential expression of PEA3 in odontogenic cysts and tumors.
    Title: Differential expression of PEA3 in odontogenic cysts and tumors.
  7. 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.
  8. Identification and characterization of novel ETV4 splice variants in prostate cancer.
    Title: Identification and characterization of novel ETV4 splice variants in prostate cancer.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (101)

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

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

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 activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
  
enables DNA-binding transcription factor activity IEA
Inferred from Electronic Annotation
more info
  
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 DNA binding IEA
Inferred from Electronic Annotation
more info
  
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 DNA-templated transcription IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
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
  
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
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

NEW Try the new Transcript table

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
    A0ACI8T5K0
    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
    A0ACI8T5K0
    Related
    ENSP00000440023.1, ENST00000545954.6
    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
    A0ACI8T5K0
    Related
    ENSP00000443846.1, ENST00000538265.6
    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, ENST00000586826.2
    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
    A0ACI8T5K0
    Related
    ENSP00000527903.1, ENST00000857844.2
    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
    A0ACI8T5K0
    Related
    ENSP00000747873.1, ENST00001078067.1
    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
    A0ACI8T5I7, A0ACI8T5K0
    Related
    ENSP00000527902.1, ENST00000857843.2
    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
    A0ACI8T5K0
    Related
    ENSP00000465718.1, ENST00000591713.6
    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_2025_08

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

    UniProtKB/TrEMBL
    A0ACI8T5I7, A0ACI8T5K0

  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

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