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

Gene ID: 2120, updated on 2-Nov-2024

Summary

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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

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See ETV6 in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5966 Neighboring gene long intergenic non-protein coding RNA 1252 Neighboring gene RNA, U7 small nuclear 60 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5967 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:11744935-11745672 Neighboring gene Sharpr-MPRA regulatory region 654 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:11761757-11762318 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:11762319-11762880 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:11762881-11763442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4245 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4244 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4242 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11819261-11819894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11819895-11820529 Neighboring gene uncharacterized LOC124902879 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5974 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5983 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5984 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5992 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11947826-11948514 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:11948515-11949203 Neighboring gene Sharpr-MPRA regulatory region 735 Neighboring gene Sharpr-MPRA regulatory region 6497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5996 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5997 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:11991350-11992549 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12008095-12008671 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:12022641-12023141 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12031171-12031968 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12037195-12038394 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12038421-12039131 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5998 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12080535-12080690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12102758-12103542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5999 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:12111509-12112708 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12162287-12163167 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12161406-12162286 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12163168-12164048 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6003 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6007 Neighboring gene Sharpr-MPRA regulatory region 1566 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6008 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:12199831-12200330 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:12210407-12211072 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:12211073-12211736 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr12:12216444-12216992 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:12222531-12222710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:12225917-12226604 Neighboring gene Sharpr-MPRA regulatory region 14349 Neighboring gene Sharpr-MPRA regulatory region 8243 Neighboring gene BCL2 like 14 Neighboring gene microRNA 1244-4 Neighboring gene prothymosin alpha pseudogene 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. ETV6 gene rearrangements in invasive breast carcinoma. Letessier A, et al. Genes Chromosomes Cancer, 2005 Sep. PMID 15887243
  2. ETV6/RUNX1 (TEL/AML1) is a frequent prenatal first hit in childhood leukemia. Zuna J, et al. Blood, 2011 Jan 6. PMID 21212293
  3. Brief communication: stability and catalytic activity of novel circular DNAzymes. Seifert G, et al. Nucleosides Nucleotides Nucleic Acids, 2006. PMID 16898416
  4. Identification of the nuclear localization motif in the ETV6 (TEL) protein. Park H, et al. Cancer Genet Cytogenet, 2006 Jun. PMID 16737910
  5. Fusion genes in cord blood. Greaves M, et al. Blood, 2011 Jan 6. PMID 21212294

See all (323) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.
    Title: The clinical and molecular spectrum of ETV6 mutated myeloid neoplasms.
  8. 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.
  9. 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.
  10. 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

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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

  1. NG_011443.1 RefSeqGene

    Range
    5001..250549
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_609

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430

  2. NM_001413914.1 → NP_001400843.1  transcription factor ETV6 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430

  3. NM_001413915.1 → NP_001400844.1  transcription factor ETV6 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358

  4. NM_001413916.1 → NP_001400845.1  transcription factor ETV6 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430

  5. NM_001413917.1 → NP_001400846.1  transcription factor ETV6 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430
    UniProtKB/TrEMBL
    A0A0S2Z3N6

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

    Status: REVIEWED

    Source sequence(s)
    AC007450, AC084358, AC084430

  7. 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

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    11649674..11895377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428502.1 → XP_047284458.1  transcription factor ETV6 isoform X1

  2. XM_017018990.2 → XP_016874479.1  transcription factor ETV6 isoform X2

  3. 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 )

  4. XM_047428503.1 → XP_047284459.1  transcription factor ETV6 isoform X3

  5. XM_047428504.1 → XP_047284460.1  transcription factor ETV6 isoform X3

  6. XM_011520612.3 → XP_011518914.1  transcription factor ETV6 isoform X4

    Conserved Domains (1) summary
    smart00413
    Location:131 → 217
    ETS; erythroblast transformation specific domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    11518944..11764496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P41212.1 GenPept UniProtKB/Swiss-Prot:P41212

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