ETV6 Gene Summary [Human]
This gene encodes an ETS family transcription factor. The product of this gene contains two functional domains: a N-terminal pointed (PNT) domain that is involved in protein-protein interactions with itself and other proteins, and a C-terminal DNA-binding domain. Gene knockout studies in mice suggest that it is required for hematopoiesis and maintenance of the developing vascular network. This gene is known to be involved in a large number of chromosomal rearrangements associated with leukemia and congenital fibrosarcoma. [provided by RefSeq, Sep 2008]
Details
| Type | Protein Coding |
| Official Symbol | ETV6 |
| Official Name | ETS variant transcription factor 6 [Source:HGNC Symbol;Acc:HGNC:3495] |
| Ensembl ID | ENSG00000139083 |
| Bio databases IDs | |
| Aliases | ETS variant transcription factor 6, TEL oncogene |
| Synonyms | ets variant 6, ETS variant transcription factor 6, MPE, TEL, TEL/ABL, THC5 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ETV6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- SAM domain
- transcription activation domain
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- Sterile alpha motif (SAM)/Pointed domain
- homodimerization domain
- Ets-domain
- helix-loop-helix domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- self-association domain
- DNA binding domain
- nucleic acid binding
- oligomerization domain
- SAM (Sterile alpha motif )
- central domain
- protein domain specific binding
- protein binding
- sequence-specific DNA binding
- DNA binding
- msin3a protein-binding domain
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional repressor activity
- double-stranded DNA binding
- ETS interacting domain
- pointed domain
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- cancer
- neoplasia
- malignant hematopoietic neoplasm
- hematologic cancer
- neoplastic cell transformation
- acute lymphoblastic leukemia
- leukemia
- T acute lymphoblastic leukemia
- non-insulin-dependent diabetes mellitus
- thrombocytopenia type 5
role in cell
- expression in
- growth
- quantity
- apoptosis
- phosphorylation in
- proliferation
- cytostasis
- transformation
- survival
- migration
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nuclear fraction
- TEL bodies
- Cytoplasm
- Plasma Membrane
- cytosol
- nucleoli
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ETV6 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- vitellogenesis
- cell differentiation
- hemopoietic stem cell proliferation
- neurogenesis
- positive regulation of transcription from RNA polymerase II promoter
- regulation of transcription from RNA polymerase II promoter
- mesenchymal cell apoptotic process
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytosol
- nucleolus
- chromatin
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- protein domain specific binding
- protein binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II regulatory region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
- sequence-specific DNA binding RNA polymerase II transcription factor activity