ETV6 Gene: ETS Variant Transcription Factor 6
Key regulator of hematopoiesis and recurrent target of chromosomal translocations in leukemia
Gene Information Card
| Symbol | ETV6 |
|---|---|
| Full Name | ETS variant transcription factor 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.2 |
| NCBI Gene ID | 2120 ncbi.nlm.nih.gov/gene/2120 |
| Ensembl ID | ENSG00000139083 |
| UniProt ID | P41212 |
| OMIM ID | 600618 |
| HGNC ID | 3495 |
| Aliases | TEL, TEL1, ETV6-1 |
Description
ETV6 (ETS variant transcription factor 6), also known as TEL, encodes a member of the ETS family of transcription factors. It is a sequence-specific DNA-binding protein that represses transcription and plays a critical role in hematopoiesis, particularly in the maintenance of hematopoietic stem cells and megakaryocyte development. ETV6 is a frequent target of chromosomal translocations in various leukemias and myelodysplastic syndromes, often resulting in fusion proteins with altered transcriptional activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute lymphoblastic leukemia (ALL) | Recurrent translocations (e.g., ETV6-RUNX1) produce fusion proteins that disrupt normal hematopoietic differentiation | ClinVar, COSMIC |
| Myelodysplastic syndrome (MDS) | Deletions and point mutations in ETV6 lead to haploinsufficiency or loss of function | ClinVar, COSMIC |
| Chronic myeloid leukemia (CML) | ETV6-ABL1 fusion results in constitutive tyrosine kinase activation | COSMIC |
| Essential thrombocythemia | Germline and somatic ETV6 mutations impair megakaryopoiesis | ClinVar, OMIM |
| Acute myeloid leukemia (AML) | ETV6 rearrangements and mutations contribute to leukemogenesis | COSMIC, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Thymus | 6.7 | Low |
| Lymph node | 5.9 | Low |
| Whole blood | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.2 | Myelogenous leukemia cell line |
| HEL (erythroleukemia) | 13.8 | High expression |
| Jurkat (T-cell leukemia) | 10.1 | Moderate expression |
| HL-60 (promyelocytic leukemia) | 9.5 | Moderate expression |
| MCF7 (breast cancer) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1138C>T (p.Arg380Trp) | Missense | Rare | Loss of DNA-binding activity |
| c.1252A>G (p.Lys418Glu) | Missense | Rare | Impaired transcriptional repression |
| ETV6-RUNX1 fusion | Translocation | Common in pediatric ALL | Dominant-negative effect on RUNX1 target genes |
| ETV6-ABL1 fusion | Translocation | Rare | Constitutive tyrosine kinase activation |
| Whole gene deletion | Deletion | Variable | Haploinsufficiency |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the ETS domain (e.g., p.Arg380Trp) impair DNA binding and transcriptional repression, leading to haploinsufficiency.
Gain of Function (GOF)
Fusions such as ETV6-ABL1 create constitutively active tyrosine kinases that drive oncogenic signaling.
Dominant Negative (DN)
ETV6-RUNX1 fusion protein interferes with wild-type RUNX1 and ETV6 function, blocking normal hematopoietic differentiation.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hematopoietic stem cell differentiation
• RUNX1 signaling
• ETS transcription factor network
• Leukemia-associated fusion protein signaling
Protein Summary
ETV6 (TEL) is a 452-amino acid transcription factor containing a pointed (PNT) domain for protein-protein interactions and an ETS DNA-binding domain. It functions primarily as a transcriptional repressor by recruiting co-repressors such as N-CoR and mSin3A. ETV6 is essential for hematopoiesis, particularly in the bone marrow microenvironment. Chromosomal translocations involving ETV6 produce fusion proteins (e.g., ETV6-RUNX1, ETV6-ABL1) that are potent oncogenic drivers in leukemia. Germline mutations in ETV6 are associated with familial thrombocytopenia and predisposition to hematologic malignancies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ETV6 Knockout HEK293 Cell Line | EDJ-KQ3617 | Human | 2120 | Details Get a Quote |
| ETV6 Knockout A-549 Cell Line | EDJ-KQ25546 | Human | 2120 | Details Get a Quote |
| ETV6 Knockout HCT 116 Cell Line | EDJ-KQ25547 | Human | 2120 | Details Get a Quote |
| ETV6 Knockout HeLa Cell Line | EDJ-KQ25548 | Human | 2120 | Details Get a Quote |
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