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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ETV1
ETS variant transcription factor 1
Chromosome 7 · 7p21.2
NCBI Gene: 2115Ensembl: ENSG00000006468.15HGNC: HGNC:3490UniProt: B5MCT2
111PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingsequence-specific double-stranded DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificpositive regulation of transcription by RNA polymerase IItype 2 diabetes mellitushair colordiverticular diseasebenign prostatic hyperplasia
✦AI Summary

ETV1 is a sequence-specific DNA-binding transcription factor that recognizes the consensus pentanucleotide 5'-CGGA[AT]-3' and functions as a transcriptional activator of RNA polymerase II 1. In cardiac tissue, ETV1 activates a rapid conduction transcriptional program by directly promoting expression of genes encoding rapid conduction properties, including Scn5a, Gja5, and Nkx2-5 2. ETV1 is essential for cardiac conduction specification; cardiomyocyte-specific ETV1 deletion results in conduction abnormalities and His-Purkinje system hypoplasia, while forced ETV1 expression converts ventricular myocytes toward a His-Purkinje phenotype 2. During cardiac pressure overload associated with heart failure, ETV1 expression is downregulated in the left atrium, contributing to electrical remodeling and profibrotic gene activation 3. In cancer, ETV1 is frequently dysregulated through gene fusion events. Approximately 50% of prostate cancers harbor ETV1 gene fusions with TMPRSS2, resulting in androgen-responsive overexpression of ETV1 4, with ETV1 fusions defining a major molecular subtype alongside ERG and FLI1 5. ETV1 also shows copy number gains in pancreatic adenocarcinoma progression and metastasis 6. ETV1 chr7 translocations drive Ewing sarcoma carcinogenesis 7, where ETV1 and related PEA3 subfamily proteins promote cell proliferation, motility, and invasion through complex post-translational modifications 7.

Sources cited
1
ETV1 binds DNA sequences containing consensus pentanucleotide 5'-CGGA[AT]-3'
PMID: 7651741
2
ETV1 activates rapid conduction gene expression (Scn5a, Gja5, Nkx2-5) and ETV1 deletion causes conduction abnormalities and His-Purkinje hypoplasia
PMID: 29967479
3
ETV1 expression decreases in left atrium during cardiac pressure overload, contributing to electrical and structural remodeling
PMID: 33225722
4
ETV1 is frequently fused with TMPRSS2 in prostate cancer, resulting in androgen-responsive overexpression
PMID: 16254181
5
ETV1 gene fusions define a major molecular subtype in 74% of primary prostate cancers
PMID: 26544944
6
ETV1 shows copy number gains during pancreatic adenocarcinoma progression and metastasis
PMID: 38702773
7
ETV1 chromosomal translocations drive Ewing sarcoma and ETV1 promotes cell proliferation, motility, and invasion
PMID: 22425584
Disease Associationsⓘ21
type 2 diabetes mellitusOpen Targets
0.51Moderate
hair colorOpen Targets
0.48Moderate
diverticular diseaseOpen Targets
0.43Moderate
benign prostatic hyperplasiaOpen Targets
0.43Moderate
diabetes mellitusOpen Targets
0.42Moderate
Abnormality of the skeletal systemOpen Targets
0.41Moderate
esophageal adenocarcinomaOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.37Weak
prostate adenocarcinomaOpen Targets
0.37Weak
lung carcinomaOpen Targets
0.37Weak
Ewing sarcomaOpen Targets
0.37Weak
Acinar Prostate Mucinous AdenocarcinomaOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
Ewing sarcoma/peripheral primitive neuroectodermal tumor of boneOpen Targets
0.37Weak
Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal TumorOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
malignant soft tissue neoplasmOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
Ewing sarcomaUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DET1Protein interaction100%EWSR1Protein interaction95%COP1Protein interaction90%STK40Protein interaction90%SLC45A3Protein interaction89%TMPRSS2Protein interaction86%
Tissue Expression6 tissues
Heart
100%
Brain
31%
Lung
19%
Liver
7%
Ovary
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
ETV1DET1EWSR1COP1STK40SLC45A3TMPRSS2
PROTEIN STRUCTURE
Preparing viewer…
PDB5ILS · 1.40 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.66LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.45 [0.31–0.66]
RankingsWhere ETV1 stands among ~20K protein-coding genes
  • #4,269of 20,598
    Most Researched111 · top quartile
  • #4,805of 17,882
    Most Constrained (LOEUF)0.66
Genes detectedETV1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Molecular Taxonomy of Primary Prostate Cancer.
PMID: 26544944
Cell · 2015
1.00
2
Single-cell transcriptome analysis reveals subtype-specific clonal evolution and microenvironmental changes in liver metastasis of pancreatic adenocarcinoma and their clinical implications.
PMID: 38702773
Mol Cancer · 2024
0.90
3
Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer.
PMID: 16254181
Science · 2005
0.80
4
Integrated analysis of ATAC-seq and RNA-seq reveals the transcriptional regulation network in SLE.
PMID: 36738683
Int Immunopharmacol · 2023
0.70
5
Cardiac Pressure Overload Decreases ETV1 Expression in the Left Atrium, Contributing to Atrial Electrical and Structural Remodeling.
PMID: 33225722
Circulation · 2021
0.60