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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
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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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