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ETV6 ETS variant 6 [ Homo sapiens (human) ]

Gene ID: 2120, updated on 20-Feb-2017
Official Symbol
ETV6provided by HGNC
Official Full Name
ETS variant 6provided by HGNC
Primary source
HGNC:HGNC:3495
See related
Ensembl:ENSG00000139083 MIM:600618; Vega:OTTHUMG00000168538
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]
Orthologs
Location:
12p13.2
Exon count:
14
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (11649601..11895402)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (11802788..12048336)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1252 Neighboring gene RNA, U7 small nuclear 60 pseudogene Neighboring gene BCL2 like 14 Neighboring gene prothymosin alpha

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Thrombocytopenia 5
MedGen: CN225711 OMIM: 616216 GeneReviews: Not available
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NHGRI GWAS Catalog

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

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
hematopoietic stem cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
mesenchymal cell apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription from RNA polymerase II promoter IMP
Inferred from Mutant Phenotype
more info
PubMed 
neurogenesis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
transcription from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
vitellogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
transcription factor ETV6
Names
ETS translocation variant 6
ETS-related protein Tel1
TEL1 oncogene
ets variant gene 6 (TEL oncogene)

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_001987.4NP_001978.1  transcription factor ETV6

    See identical proteins and their annotated locations for NP_001978.1

    Status: REVIEWED

    Source sequence(s)
    AC084358, BC043399, T79261
    Consensus CDS
    CCDS8643.1
    UniProtKB/Swiss-Prot
    P41212
    UniProtKB/TrEMBL
    A0A0S2Z3C9
    Related
    ENSP00000379658, OTTHUMP00000238976, ENST00000396373, OTTHUMT00000400130
    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 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    11649601..11895402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_011520607.2XP_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
  3. XM_011520611.2XP_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 )
  4. XM_017018991.1XP_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 )
  5. XM_011520608.2XP_011518910.1  transcription factor ETV6 isoform X2

    Conserved Domains (2) summary
    cd08535
    Location:47114
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    smart00413
    Location:329415
    ETS; erythroblast transformation specific domain
  6. XM_011520609.2XP_011518911.1  transcription factor ETV6 isoform X4

    See identical proteins and their annotated locations for XP_011518911.1

    Conserved Domains (2) summary
    smart00413
    Location:250336
    ETS; erythroblast transformation specific domain
    cl15755
    Location:135
    SAM_superfamily; SAM (Sterile alpha motif )
  7. XM_011520612.2XP_011518914.1  transcription factor ETV6 isoform X5

    Conserved Domains (1) summary
    smart00413
    Location:131217
    ETS; erythroblast transformation specific domain

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    11768106..12013345
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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