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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ETV4
ETS variant transcription factor 4
Chromosome 17 · 17q21.31
NCBI Gene: 2118Ensembl: ENSG00000175832.14HGNC: HGNC:3493UniProt: P43268
142PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of keratinocyte differentiationRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificnucleolusneurodegenerative diseaseprostate adenocarcinomabenign prostatic hyperplasiaprostate carcinoma
✦AI Summary

ETV4 (ETS variant transcription factor 4) is a transcriptional activator that plays critical roles in cancer progression and cellular differentiation 1. As a DNA-binding transcription factor, ETV4 recognizes specific ETS-binding sequences and activates target gene transcription, including key oncogenes and inflammatory mediators 2. In hepatocellular carcinoma, ETV4 promotes metastasis by transactivating PD-L1 and CCL2 expression, leading to immunosuppressive tumor microenvironments and increased macrophage infiltration 1. ETV4 also drives hepatic inflammation and carcinogenesis by directly activating TNF-α and MAPK11 transcription 2. In bladder cancer, ETV4 facilitates lymphangiogenesis and lymph node metastasis through CXCL1/8-mediated neutrophil recruitment, with its nuclear translocation enhanced by PTK6-mediated phosphorylation at tyrosine 392 3. The protein functions as an intermediate state regulator in melanoma phenotype switching, contributing to a distinct gene regulatory network 4. ETV4 expression is regulated through multiple mechanisms, including FGF19/FGFR4 signaling via ERK1/2 pathway 1, and m6A-mediated mRNA stabilization in cholestatic liver fibrosis, where it paradoxically promotes anti-fibrotic responses through MMP9 induction 5. ETV4 overexpression characterizes CIC-rearranged sarcomas, serving as a diagnostic biomarker 67.

Sources cited
1
ETV4 promotes HCC metastasis by transactivating PD-L1 and CCL2, creating immunosuppressive microenvironments
PMID: 36907560
2
ETV4 drives hepatic inflammation and HCC by directly activating TNF-α and MAPK11 transcription
PMID: 37670477
3
ETV4 facilitates bladder cancer lymphangiogenesis through neutrophil recruitment, regulated by PTK6 phosphorylation
PMID: 36670069
4
ETV4 governs intermediate state in melanoma phenotype switching as part of distinct gene regulatory network
PMID: 32753671
5
ETV4 promotes anti-fibrotic responses in cholestatic liver fibrosis through m6A-regulated mRNA stabilization
PMID: 39914744
6
ETV4 overexpression characterizes CIC-DUX4 sarcomas
PMID: 35730520
7
Nuclear ETV4 expression serves as diagnostic marker for CIC-rearranged sarcomas
PMID: 38278603
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
prostate adenocarcinomaOpen Targets
0.38Weak
benign prostatic hyperplasiaOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.37Weak
Acinar Prostate Adenocarcinoma, Foamy Gland VariantOpen 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
hemangioblastomaOpen Targets
0.37Weak
malignant soft tissue neoplasmOpen Targets
0.37Weak
Prostate Small Cell CarcinomaOpen Targets
0.37Weak
hepatocellular carcinomaOpen Targets
0.30Weak
non-small cell lung carcinomaOpen Targets
0.30Weak
melanomaOpen Targets
0.30Weak
papillary thyroid carcinomaOpen Targets
0.30Weak
gastric adenocarcinomaOpen Targets
0.30Weak
gastrointestinal stromal tumorOpen Targets
0.30Weak
esophageal adenocarcinomaOpen Targets
0.30Weak
lung adenocarcinomaOpen Targets
0.29Weak
Pathogenic Variants1
NM_001079675.5(ETV4):c.1244G>A (p.Arg415His)Likely pathogenic
Congenital anomaly of kidney and urinary tract
☆☆☆☆2018→ Residue 415
View on ClinVar ↗
Related Genes
NCOA3Protein interaction96%COP1Protein interaction85%EWSR1Protein interaction82%TMPRSS2Protein interaction78%SLC45A3Protein interaction76%CD99Protein interaction73%
Tissue Expression6 tissues
Lung
100%
Heart
83%
Liver
60%
Brain
29%
Ovary
15%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
ETV4NCOA3COP1EWSR1TMPRSS2SLC45A3CD99
PROTEIN STRUCTURE
Preparing viewer…
PDB4CO8 · 1.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.49–0.82]
RankingsWhere ETV4 stands among ~20K protein-coding genes
  • #3,219of 20,598
    Most Researched142 · top quartile
  • #4,784of 5,498
    Most Pathogenic Variants1
  • #6,959of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedETV4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
FGF19/FGFR4-mediated elevation of ETV4 facilitates hepatocellular carcinoma metastasis by upregulating PD-L1 and CCL2.
PMID: 36907560
J Hepatol · 2023
1.00
2
CIC-DUX4 sarcomas.
PMID: 35730520
Curr Opin Oncol · 2022
0.90
3
Hyodeoxycholic acid ameliorates cholestatic liver fibrosis by facilitating m
PMID: 39914744
J Hepatol · 2025
0.80
4
Transcription factor ETV4 promotes the development of hepatocellular carcinoma by driving hepatic TNF-α signaling.
PMID: 37670477
Cancer Commun (Lond) · 2023
0.70
5
ETV4 Mediated Tumor-Associated Neutrophil Infiltration Facilitates Lymphangiogenesis and Lymphatic Metastasis of Bladder Cancer.
PMID: 36670069
Adv Sci (Weinh) · 2023
0.60