ETV6 ETS variant transcription factor 6 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ETV6provided by HGNC
Official Full Name: ETS variant transcription factor 6provided by HGNC
Primary source: HGNC:HGNC:3495
See related: Ensembl:ENSG00000139083 MIM:600618; AllianceGenome:HGNC:3495
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: TEL; THC5; TEL/ABL
Summary: 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]
Expression: Ubiquitous expression in appendix (RPKM 7.0), bone marrow (RPKM 6.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p13.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (11649674..11895377)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (11518944..11764496)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (11802608..12048311)

Chromosome 12 - NC_000012.12 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression.
Title: ETV6::ACSL6 translocation-driven super-enhancer activation leads to eosinophilia in acute lymphoblastic leukemia through IL-3 overexpression.
Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia.
Title: Characteristics and literature review of ETV6::ABL1 fusion gene-positive acute myeloid leukemia.
ETV6 fusions from insertions of exons 3-5 in pediatric hematologic malignancies.
Title: ETV6 fusions from insertions of exons 3-5 in pediatric hematologic malignancies.
Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.
Title: Description of an Institutional Cohort of Myeloid Neoplasms Carrying ETV6-Locus Deletions or ETV6 Rearrangements.
Single-cell analysis of megakaryopoiesis in peripheral CD34[+] cells: insights into ETV6-related thrombocytopenia.
Title: Single-cell analysis of megakaryopoiesis in peripheral CD34(+) cells: insights into ETV6-related thrombocytopenia.
High-grade non-intestinal type sinonasal adenocarcinoma with ETV6::NTRK3 fusion, distinct from secretory carcinoma by immunoprofile and morphology.
Title: High-grade non-intestinal type sinonasal adenocarcinoma with ETV6::NTRK3 fusion, distinct from secretory carcinoma by immunoprofile and morphology.
The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.
Title: The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.
Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.
Title: Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.
Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia.
Title: Functional damaging germline variants in ETV6, IKZF1, PAX5 and RUNX1 predisposing to B-cell precursor acute lymphoblastic leukemia.
The ETS transcription factor ETV6 constrains the transcriptional activity of EWS-FLI to promote Ewing sarcoma.
Title: The ETS transcription factor ETV6 constrains the transcriptional activity of EWS-FLI to promote Ewing sarcoma.

Submit: New GeneRIF Correction See all GeneRIFs (235)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Acute myeloid leukemia MedGen: C0023467 OMIM: 601626 GeneReviews: CEBPA-Associated Familial Acute Myeloid Leukemia (AML), ETV6 Thrombocytopenia and Predisposition to Leukemia, RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies, DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia	Compare labs
Thrombocytopenia 5 MedGen: C4015537 OMIM: 616216 GeneReviews: ETV6 Thrombocytopenia and Predisposition to Leukemia	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-11) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-01-11) ClinGen Genome Curation Page

EBI GWAS Catalog

Description
Gene network analysis in a pediatric cohort identifies novel lung function genes. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-52601 (e-PCR)
- UniSTS:71692

RH69295 (e-PCR)
- UniSTS:89612

RH45790 (e-PCR)
- UniSTS:35598

STS-U45431 (e-PCR)
- UniSTS:2070

RH78294 (e-PCR)
- UniSTS:11812

RH70151 (e-PCR)
- UniSTS:80173

RH91343 (e-PCR)
- UniSTS:92470

D12S1898 (e-PCR)
- UniSTS:5179

SHGC-83462 (e-PCR)
- UniSTS:101951

G17650 (e-PCR), detects polymorphism
- UniSTS:80709

ETV6_1939 (e-PCR)
- UniSTS:280662

D12S2099 (e-PCR)
- UniSTS:35166

SGC38012 (e-PCR)
- UniSTS:41321

RH123417 (e-PCR)
- UniSTS:135792

D12S89 (e-PCR), detects polymorphism
- UniSTS:21627

SHGC-86351 (e-PCR)
- UniSTS:104072

RH80259 (e-PCR)
- UniSTS:84873

STS-U11732 (e-PCR)
- UniSTS:69775

RH15745 (e-PCR)
- UniSTS:11165

STS-U45432 (e-PCR)
- UniSTS:60329

D12S1095 (e-PCR)
- UniSTS:150198

D12S1114 (e-PCR)
- UniSTS:150199

WI-20943 (e-PCR)
- UniSTS:36560

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity	TAS Traceable Author Statement 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 factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in hematopoietic stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mesenchymal cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in vitellogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleolus	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transcription factor ETV6

Names: ETS-related protein Tel1; ETV6-RUNX1 fusion protein; TEL1 oncogene; ets variant gene 6 (TEL oncogene)

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.

Genomic

NG_011443.1 RefSeqGene

Range

5001..250549

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_609

mRNA and Protein(s)

NM_001413913.1 → NP_001400842.1 transcription factor ETV6 isoform 2

Status: REVIEWED

Source sequence(s)

AC007450, AC084358, AC084430
NM_001413914.1 → NP_001400843.1 transcription factor ETV6 isoform 3

Status: REVIEWED

Source sequence(s)

AC007450, AC084358, AC084430
NM_001413915.1 → NP_001400844.1 transcription factor ETV6 isoform 4

Status: REVIEWED

Source sequence(s)

AC007450, AC084358
NM_001413916.1 → NP_001400845.1 transcription factor ETV6 isoform 5

Status: REVIEWED

Source sequence(s)

AC007450, AC084358, AC084430
NM_001413917.1 → NP_001400846.1 transcription factor ETV6 isoform 6

Status: REVIEWED

Source sequence(s)

AC007450, AC084358, AC084430

UniProtKB/TrEMBL

A0A0S2Z3N6
NM_001413918.1 → NP_001400847.1 transcription factor ETV6 isoform 7

Status: REVIEWED

Source sequence(s)

AC007450, AC084358, AC084430
NM_001987.5 → NP_001978.1 transcription factor ETV6 isoform 1

See identical proteins and their annotated locations for NP_001978.1

Status: REVIEWED

Source sequence(s)

AC007450, AC084358, BC043399, T79261

Consensus CDS

CCDS8643.1

UniProtKB/Swiss-Prot

A3QVP6, A8K076, P41212, Q9UMF6, Q9UMF7, Q9UMG0

UniProtKB/TrEMBL

A0A0S2Z3C9

Related

ENSP00000379658.3, ENST00000396373.9

Conserved Domains (2) summary

cd08535
Location:56 → 123

SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein

smart00413
Location:338 → 424

ETS; erythroblast transformation specific domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

11649674..11895377

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047428502.1 → XP_047284458.1 transcription factor ETV6 isoform X1
XM_017018990.2 → XP_016874479.1 transcription factor ETV6 isoform X2
XM_017018991.2 → XP_016874480.1 transcription factor ETV6 isoform X3

Conserved Domains (2) summary

smart00413
Location:250 → 336

ETS; erythroblast transformation specific domain

cl15755
Location:1 → 35

SAM_superfamily; SAM (Sterile alpha motif )
XM_047428503.1 → XP_047284459.1 transcription factor ETV6 isoform X3
XM_047428504.1 → XP_047284460.1 transcription factor ETV6 isoform X3
XM_011520612.3 → XP_011518914.1 transcription factor ETV6 isoform X4

Conserved Domains (1) summary

smart00413
Location:131 → 217

ETS; erythroblast transformation specific domain