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

Summary

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
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Genomic context

Location:: 6 G1; 6 64.58 cM

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice.
Title: ETV6 represses inflammatory response genes and regulates HSPC function during stress hematopoiesis in mice.
RNA binding protein IGF2BP1 synergizes with ETV6-RUNX1 to drive oncogenic signaling in B-cell Acute Lymphoblastic Leukemia.
Title: RNA binding protein IGF2BP1 synergizes with ETV6-RUNX1 to drive oncogenic signaling in B-cell Acute Lymphoblastic Leukemia.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (6) 1 citation
Gene trapped (1)
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235563

RH126158 (e-PCR)
- UniSTS:162869

AW557856 (e-PCR)
- UniSTS:185688

D6Mit110 (e-PCR), detects polymorphism
- UniSTS:130654

D6Mit374 (e-PCR), detects polymorphism
- UniSTS:130930

AI506767 (e-PCR)
- UniSTS:165501

AW123102 (e-PCR)
- UniSTS:165502

Etv6 (e-PCR), detects polymorphism
- UniSTS:545933

MT3177 (e-PCR)
- UniSTS:130766

D6Mit220.2 (e-PCR), detects polymorphism
- UniSTS:130767

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
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
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
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

General protein information

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Preferred Names: transcription factor ETV6

Names: ETS-related protein Tel1; ets variant gene 6 (TEL oncogene); translocation-ets-leukemia

NCBI Reference Sequences (RefSeq)

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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)

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

Q3U037, 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
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

Q8CBV1

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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

134012663..134247121

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

See identical proteins and their annotated locations for XP_011239508.1

UniProtKB/TrEMBL

Q3U037, 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
XM_011241207.4 → XP_011239509.1 transcription factor ETV6 isoform X1

See identical proteins and their annotated locations for XP_011239509.1

UniProtKB/TrEMBL

Q3U037, 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
XM_011241208.4 → XP_011239510.1 transcription factor ETV6 isoform X1

See identical proteins and their annotated locations for XP_011239510.1

UniProtKB/TrEMBL

Q3U037, 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