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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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    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.

    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

    Gene LinkOut

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