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

    Gene ID: 2120, updated on 5-Aug-2022

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See ETV6 in Genome Data Viewer
    Location:
    12p13.2
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (11649674..11895377)
    110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (11518944..11764496)
    105.20220307 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 long intergenic non-protein coding RNA 1252 Neighboring gene RNA, U7 small nuclear 60 pseudogene Neighboring gene uncharacterized LOC124902879 Neighboring gene Sharpr-MPRA regulatory region 735 Neighboring gene BCL2 like 14 Neighboring gene microRNA 1244-4 Neighboring gene prothymosin alpha pseudogene 9

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    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
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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)

    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_001987.5NP_001978.1  transcription factor ETV6

      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
      P41212, Q9UMG0
      UniProtKB/TrEMBL
      A0A0S2Z3C9
      Related
      ENSP00000379658.3, ENST00000396373.9
      Conserved Domains (2) summary
      cd08535
      Location:56123
      SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
      smart00413
      Location:338424
      ETS; erythroblast transformation specific domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

    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_047428502.1XP_047284458.1  transcription factor ETV6 isoform X2

    2. XM_017018990.2XP_016874479.1  transcription factor ETV6 isoform X3

    3. XM_011520607.3XP_011518909.1  transcription factor ETV6 isoform X1

      See identical proteins and their annotated locations for XP_011518909.1

      Conserved Domains (2) summary
      cd08535
      Location:55122
      SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
      smart00413
      Location:337423
      ETS; erythroblast transformation specific domain
    4. XM_011520611.3XP_011518913.1  transcription factor ETV6 isoform X4

      See identical proteins and their annotated locations for XP_011518913.1

      Conserved Domains (2) summary
      smart00413
      Location:250336
      ETS; erythroblast transformation specific domain
      cl15755
      Location:135
      SAM_superfamily; SAM (Sterile alpha motif )
    5. XM_017018991.2XP_016874480.1  transcription factor ETV6 isoform X4

      Conserved Domains (2) summary
      smart00413
      Location:250336
      ETS; erythroblast transformation specific domain
      cl15755
      Location:135
      SAM_superfamily; SAM (Sterile alpha motif )
    6. XM_047428503.1XP_047284459.1  transcription factor ETV6 isoform X4

    7. XM_047428504.1XP_047284460.1  transcription factor ETV6 isoform X4

    8. XM_011520612.3XP_011518914.1  transcription factor ETV6 isoform X5

      Conserved Domains (1) summary
      smart00413
      Location:131217
      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)