U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Etv6 ets variant 6 [ Mus musculus (house mouse) ]

Gene ID: 14011, updated on 9-Mar-2023

Summary

Go to the top of the page Help
Official Symbol
Etv6provided by MGI
Official Full Name
ets variant 6provided by MGI
Primary source
MGI:MGI:109336
See related
Ensembl:ENSMUSG00000030199 AllianceGenome:MGI:109336
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Tel
Summary
This gene encodes a transcriptional repressor belonging to the ETS family of proteins. Knockout of this gene in mice results in embryonic lethality due to defective angiogenesis. In humans, this gene is often involved in chromosome rearrangements associated with specific cancers. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Expression
Ubiquitous expression in ovary adult (RPKM 13.6), bladder adult (RPKM 11.2) and 28 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See Etv6 in Genome Data Viewer
Location:
6 G1; 6 64.58 cM
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (134012663..134247121)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (134035700..134270158)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene kidney androgen regulated protein Neighboring gene predicted gene 8956 Neighboring gene predicted gene, 46978 Neighboring gene predicted gene, 52920 Neighboring gene RIKEN cDNA 1700051K13 gene Neighboring gene predicted gene, 38908 Neighboring gene predicted gene 17089 Neighboring gene RIKEN cDNA 4933406J09 gene Neighboring gene BCL2-like 14 (apoptosis facilitator) Neighboring gene low density lipoprotein receptor-related protein 6

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

Go to the top of the pageHelp

Related articles in PubMed

  1. Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors. Zhou C, et al. Exp Hematol, 2022 Aug-Sep. PMID 35803545,
  2. ETS variant transcription factor 6 enhances oxidized low-density lipoprotein-induced inflammatory response in atherosclerotic macrophages via activating NF-κB signaling. Xiong X, et al. Int J Immunopathol Pharmacol, 2022 Jan-Dec. PMID 35306921, Free PMC Article
  3. Autoinhibition of ETV6 DNA Binding Is Established by the Stability of Its Inhibitory Helix. De S, et al. J Mol Biol, 2016 Apr 24. PMID 26920109, Free PMC Article
  4. Autoinhibition of ETV6 (TEL) DNA binding: appended helices sterically block the ETS domain. Coyne HJ 3rd, et al. J Mol Biol, 2012 Aug 3. PMID 22584210, Free PMC Article
  5. Leukemia-related transcription factor TEL/ETV6 expands erythroid precursors and stimulates hemoglobin synthesis. Eguchi-Ishimae M, et al. Cancer Sci, 2009 Apr. PMID 19302286

See all (87) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment.
    Title: ETV3 and ETV6 enable monocyte differentiation into dendritic cells by repressing macrophage fate commitment.
  2. Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors.
    Title: Germline ETV6 mutation promotes inflammation and disrupts lymphoid development of early hematopoietic progenitors.
  3. ETS variant transcription factor 6 enhances oxidized low-density lipoprotein-induced inflammatory response in atherosclerotic macrophages via activating NF-kappaB signaling.
    Title: ETS variant transcription factor 6 enhances oxidized low-density lipoprotein-induced inflammatory response in atherosclerotic macrophages via activating NF-κB signaling.
  4. Etv6 optimizes the resolution of cDC1 and pDC expression programs and the functional fitness of cDC1, thereby facilitating T cell cross-priming and tumor-specific responses.
    Title: Transcription factor Etv6 regulates functional differentiation of cross-presenting classical dendritic cells.
  5. Study reveals a previously unrecognized synergism between ETV6/RUNX1 and BCL2 impacting on malignant disease and autoimmunity.
    Title: Cooperation of ETV6/RUNX1 and BCL2 enhances immunoglobulin production and accelerates glomerulonephritis in transgenic mice.
  6. Together with similar observations made in human PAX5-ETV6(+) B-ALLs, these data identified PAX5-ETV6 fusion as a potent oncoprotein that drives B-cell leukemia development.
    Title: Molecular role of the PAX5-ETV6 oncoprotein in promoting B-cell acute lymphoblastic leukemia.
  7. ETV6 DNA binding inhibition is established by the stability of its inhibitory helix
    Title: Autoinhibition of ETV6 DNA Binding Is Established by the Stability of Its Inhibitory Helix.
  8. Studied the combination of Etv6-RUNX1 and Pax5(+/-) alleles, they generated a transplantable B220 + CD19+ B-ALL with a significant disease incidence; RNA-seq analysis showed a gene expression pattern consistent with arrest at the pre-B stage.
    Title: Somatic drivers of B-ALL in a model of ETV6-RUNX1; Pax5(+/-) leukemia.
  9. In murine models of B-cell progenitors, evidence found that ETV6- RUNX1 alters the expression of cytoskeletal regulatory genes, resulting in a block of the CDC42 signaling pathway, and compromises the chemotactic response to CXCL12.
    Title: Cytoskeletal regulatory gene expression and migratory properties of B-cell progenitors are affected by the ETV6-RUNX1 rearrangement.
  10. ETV6-SAM domain interface mutations block ETV6-NTRK3-induced cellular transformation
    Title: Mutation of the salt bridge-forming residues in the ETV6-SAM domain interface blocks ETV6-NTRK3-induced cellular transformation.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Variation

Go to the top of the page Help

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Gene trapped (1) 
  • Targeted (6)  1 citation
  • Endonuclease-mediated (2) 

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables DNA-binding transcription repressor activity, RNA polymerase II-specific ISO
Inferred from Sequence Orthology
more info
  
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISO
Inferred from Sequence Orthology
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding ISO
Inferred from Sequence Orthology
more info
  
enables sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in hematopoietic stem cell proliferation ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within mesenchymal cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within neurogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
acts_upstream_of_or_within vitellogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  
located_in nucleolus ISO
Inferred from Sequence Orthology
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
transcription factor ETV6
Names
ETS-related protein Tel1
ets variant gene 6 (TEL oncogene)
translocation-ets-leukemia

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001303102.1 → NP_001290031.1  transcription factor ETV6 isoform 2

    See identical proteins and their annotated locations for NP_001290031.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains an alternate exon and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC068908, AC113600, AC145116
    UniProtKB/TrEMBL
    A0A8C6GLI4, Q80WR3
    Related
    ENSMUSP00000107594.2, ENSMUST00000111963.8
    Conserved Domains (3) summary
    cd08535
    Location:14 → 81
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:291 → 377
    ETS; erythroblast transformation specific domain
    pfam09770
    Location:89 → 227
    PAT1; Topoisomerase II-associated protein PAT1

  2. NM_007961.4 → NP_031987.3  transcription factor ETV6 isoform 1

    See identical proteins and their annotated locations for NP_031987.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC068908, AC113600, AC145116
    Consensus CDS
    CCDS39677.1
    UniProtKB/Swiss-Prot
    P97360
    UniProtKB/TrEMBL
    A0A8C6GNE9
    Related
    ENSMUSP00000079818.7, ENSMUST00000081028.13
    Conserved Domains (2) summary
    cd08535
    Location:57 → 124
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:334 → 420
    ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    134012663..134247121
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011241206.4 → XP_011239508.1  transcription factor ETV6 isoform X1

    See identical proteins and their annotated locations for XP_011239508.1

    UniProtKB/TrEMBL
    A0A8C6GLI4, Q80WR3
    Conserved Domains (3) summary
    cd08535
    Location:14 → 81
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:291 → 377
    ETS; erythroblast transformation specific domain
    pfam09770
    Location:89 → 227
    PAT1; Topoisomerase II-associated protein PAT1

  2. XM_011241207.4 → XP_011239509.1  transcription factor ETV6 isoform X1

    See identical proteins and their annotated locations for XP_011239509.1

    UniProtKB/TrEMBL
    A0A8C6GLI4, Q80WR3
    Conserved Domains (3) summary
    cd08535
    Location:14 → 81
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:291 → 377
    ETS; erythroblast transformation specific domain
    pfam09770
    Location:89 → 227
    PAT1; Topoisomerase II-associated protein PAT1

  3. XM_011241208.4 → XP_011239510.1  transcription factor ETV6 isoform X1

    See identical proteins and their annotated locations for XP_011239510.1

    UniProtKB/TrEMBL
    A0A8C6GLI4, Q80WR3
    Conserved Domains (3) summary
    cd08535
    Location:14 → 81
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:291 → 377
    ETS; erythroblast transformation specific domain
    pfam09770
    Location:89 → 227
    PAT1; Topoisomerase II-associated protein PAT1
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P97360.1 GenPept UniProtKB/Swiss-Prot:P97360

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous