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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ETV6
ETS variant transcription factor 6
Chromosome 12 Β· 12p13.2
NCBI Gene: 2120Ensembl: ENSG00000139083.12HGNC: HGNC:3495UniProt: A0A0S2Z3C9
328PubMed Papers
23Diseases
0Drugs
55Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription repressor activity, RNA polymerase II-specificprotein bindingprotein domain specific bindingthrombocytopenia 5Thrombocytopeniaacute myeloid leukemiacancer
✦AI Summary

ETV6 is a transcriptional repressor that binds DNA sequence 5'-CCGGAAGT-3' and plays critical roles in hematopoiesis and cell fate determination 1. In normal development, ETV6 controls monocyte differentiation into dendritic cells by repressing macrophage fate commitment through direct inhibition of MAFB expression 1. ETV6 also suppresses enhancer activity of GGAA microsatellite repeats, preventing aberrant oncogene activation 2. ETV6 is frequently involved in cancer-associated translocations. The ETV6-RUNX1 fusion, the most common in childhood acute lymphoblastic leukemia (ALL), functions through competition for RUNX1 binding sites and transcriptional repression, antagonizing RUNX1-mediated cell cycle regulation 3. ETV6-RUNX1 ALL demonstrates molecular heterogeneity with distinct transcriptomic subtypes showing divergent drug responses linked to PAX5 alterations 4. Other ETV6 fusions include ETV6-NTRK3 in mammary analogue secretory carcinoma 5 and ETV6-ACSL6 in myeloid neoplasms, where translocated super-enhancers activate inflammatory factor genes like IL-3, causing severe eosinophilia and poor prognosis 67. These fusion-driven mechanisms identify ETV6 as a key oncogenic driver and potential therapeutic target in hematopoietic malignancies.

Sources cited
1
ETV6 is a transcriptional repressor controlling monocyte differentiation into dendritic cells by repressing macrophage fate and MAFB expression
PMID: 36543959
2
ETV6 suppresses enhancer activity of GGAA microsatellite repeats to prevent aberrant oncogene activation
PMID: 36538046
3
ETV6-RUNX1 fusion functions through competition for RUNX1 binding sites and transcriptional repression, antagonizing RUNX1-mediated cell cycle regulation
PMID: 36411286
4
ETV6-RUNX1 ALL shows molecular heterogeneity with distinct transcriptomic clusters exhibiting divergent drug responses linked to PAX5 alterations
PMID: 39880832
5
ETV6 gene rearrangement, specifically ETV6-NTRK3 fusion, is characteristic of mammary analogue secretory carcinoma
PMID: 27575269
6
ETV6-ACSL6 involves translocated super-enhancers that activate inflammatory factor genes including IL-3, causing severe eosinophilia and poor prognosis
PMID: 38356460
7
ETV6-ACSL6 fusion presents in myeloid neoplasms with increased eosinophils and basophils, poor survival, and resistance to tyrosine kinase inhibitors
PMID: 32723365
Disease Associationsβ“˜23
thrombocytopenia 5Open Targets
0.79Strong
ThrombocytopeniaOpen Targets
0.64Moderate
acute myeloid leukemiaOpen Targets
0.63Moderate
cancerOpen Targets
0.60Moderate
acute lymphoblastic leukemiaOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.54Moderate
T-cell acute lymphoblastic leukemiaOpen Targets
0.52Moderate
Abnormality of the skeletal systemOpen Targets
0.47Moderate
hematopoietic and lymphoid system neoplasmOpen Targets
0.45Moderate
Abnormal bleedingOpen Targets
0.40Weak
chronic myelogenous leukemiaOpen Targets
0.39Weak
chronic myeloproliferative disorderOpen Targets
0.38Weak
papillary thyroid carcinomaOpen Targets
0.38Weak
congenital fibrosarcomaOpen Targets
0.38Weak
congenital mesoblastic nephromaOpen Targets
0.37Weak
B-cell acute lymphoblastic leukemiaOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
Hodgkins lymphomaOpen Targets
0.37Weak
Leukemia, acute myelogenousUniProt
Myeloproliferative disorder chronic with eosinophiliaUniProt
Thrombocytopenia 5UniProt
Pathogenic Variants55
NM_001987.5(ETV6):c.1195C>T (p.Arg399Cys)Pathogenic
Thrombocytopenia;Hematologic neoplasm|Thrombocytopenia 5|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 399
NM_001987.5(ETV6):c.1015A>T (p.Arg339Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 339
NM_001987.5(ETV6):c.1106G>A (p.Arg369Gln)Pathogenic
Thrombocytopenia;Hematologic neoplasm|Thrombocytopenia 5|not provided|Inborn genetic diseases|ETV6-related disorder|Neoplasm
β˜…β˜…β˜†β˜†2025β†’ Residue 369
NM_001987.5(ETV6):c.416_417del (p.Ser139fs)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 139
NM_001987.5(ETV6):c.1196G>A (p.Arg399His)Pathogenic
not provided|Thrombocytopenia 5|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 399
NM_001987.5(ETV6):c.1105C>T (p.Arg369Trp)Pathogenic
Thrombocytopenia|Thrombocytopenia 5|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 369
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)Pathogenic
Thrombocytopenia;Hematologic neoplasm|Thrombocytopenia 5|Acute myeloid leukemia|not provided|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 214
NM_001987.5(ETV6):c.1075C>T (p.Arg359Ter)Pathogenic
not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 359
NM_001987.5(ETV6):c.614del (p.Leu205fs)Pathogenic
Thrombocytopenia 5
β˜…β˜…β˜†β˜†2024β†’ Residue 205
NM_001987.5(ETV6):c.34-41825T>ALikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_001987.5(ETV6):c.164-1G>CLikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
NM_001987.5(ETV6):c.380_395delinsACT (p.Arg127fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 127
NM_001987.5(ETV6):c.472_473del (p.Val158fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 158
NM_001987.5(ETV6):c.441dup (p.Leu148fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 148
NM_001987.5(ETV6):c.1235G>T (p.Gly412Val)Likely pathogenic
Hermansky-Pudlak syndrome 1|Thrombocytopenia 5
β˜…β˜†β˜†β˜†2025β†’ Residue 412
NM_001987.5(ETV6):c.1078del (p.Trp360fs)Likely pathogenic
Thrombocytopenia 5
β˜…β˜†β˜†β˜†2025β†’ Residue 360
NM_001987.5(ETV6):c.163+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001987.5(ETV6):c.215G>A (p.Trp72Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 72
NM_001987.5(ETV6):c.471del (p.Cys157fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 157
NM_001987.5(ETV6):c.1153-1G>ALikely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
RUNX1Protein interaction98%CEBPAProtein interaction98%ETV7Protein interaction97%STAT5AProtein interaction97%STAT5BProtein interaction97%PDGFRBProtein interaction96%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
98%
Brain
55%
Liver
45%
Heart
34%
Ovary
28%
Gene Interaction Network
Click a node to explore
ETV6RUNX1CEBPAETV7STAT5ASTAT5BPDGFRB
PROTEIN STRUCTURE
Preparing viewer…
PDB9DOC Β· 1.19 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.44Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.28 [0.18–0.44]
RankingsWhere ETV6 stands among ~20K protein-coding genes
  • #998of 20,598
    Most Researched328 Β· top 5%
  • #1,237of 5,498
    Most Pathogenic Variants55 Β· top quartile
  • #2,403of 17,882
    Most Constrained (LOEUF)0.44 Β· top quartile
Genes detectedETV6
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Identification of ETV6-RUNX1-like and DUX4-rearranged subtypes in paediatric B-cell precursor acute lymphoblastic leukaemia.
PMID: 27265895
Nat Commun Β· 2016
1.00
2
ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment.
PMID: 36543959
Nat Immunol Β· 2023
0.90
3
Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia.
PMID: 38441775
Int J Hematol Β· 2024
0.84
4
Regulome analysis in B-acute lymphoblastic leukemia exposes Core Binding Factor addiction as a therapeutic vulnerability.
PMID: 36411286
Nat Commun Β· 2022
0.80
5
Inherited Thrombocytopenia Related Genes: GPS2 Mediates the Interplay Between ANKRD26 and ETV6.
PMID: 39791724
Cells Β· 2024
0.76