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ETV6 ets variant 6 [ Homo sapiens (human) ]

Gene ID: 2120, updated on 26-Jul-2015
Official Symbol
ETV6provided by HGNC
Official Full Name
ets variant 6provided by HGNC
Primary source
HGNC:HGNC:3495
See related
Ensembl:ENSG00000139083; HPRD:15976; 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
See ETV6 in Epigenomics, MapViewer
Location:
12p13
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (11649854..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 (apoptosis facilitator) Neighboring gene prothymosin alpha

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

Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
nucleolus IDA
Inferred from Direct Assay
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
    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
    pfam00178
    Location:338422
    Ets; Ets-domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    11649854..11895402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520607.1XP_011518909.1  

    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
    pfam00178
    Location:337421
    Ets; Ets-domain
  2. XM_011520611.1XP_011518913.1  

    See identical proteins and their annotated locations for XP_011518913.1

    Conserved Domains (2) summary
    pfam00178
    Location:250334
    Ets; Ets-domain
    cl15755
    Location:135
    SAM_superfamily; SAM (Sterile alpha motif )
  3. XM_011520608.1XP_011518910.1  

    Conserved Domains (2) summary
    cd08535
    Location:47114
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    pfam00178
    Location:329413
    Ets; Ets-domain
  4. XM_011520610.1XP_011518912.1  

    See identical proteins and their annotated locations for XP_011518912.1

    Conserved Domains (2) summary
    pfam00178
    Location:250334
    Ets; Ets-domain
    cl15755
    Location:135
    SAM_superfamily; SAM (Sterile alpha motif )
  5. XM_011520609.1XP_011518911.1  

    See identical proteins and their annotated locations for XP_011518911.1

    Conserved Domains (2) summary
    pfam00178
    Location:250334
    Ets; Ets-domain
    cl15755
    Location:135
    SAM_superfamily; SAM (Sterile alpha motif )
  6. XM_011520612.1XP_011518914.1  

    Conserved Domains (1) summary
    pfam00178
    Location:131215
    Ets; Ets-domain

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

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