Display Settings:

Format

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

ETV6 ets variant 6 [ Homo sapiens (human) ]

Gene ID: 2120, updated on 12-Apr-2014
Official Symbol
ETV6provided by HGNC
Official Full Name
ets variant 6provided by HGNC
Primary source
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; 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]
Location :
12p13
Sequence :
Chromosome: 12; NC_000012.12 (11649854..11895402)
See ETV6 in Epigenomics, MapViewer

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 uncharacterized LOC101928186 Neighboring gene uncharacterized LOC102724106 Neighboring gene BCL2-like 14 (apoptosis facilitator)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding RNA polymerase II transcription factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
sequence-specific DNA binding transcription factor activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
transcription from RNA polymerase II promoter IBA
Inferred from Biological aspect of Ancestor
more info
 
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
transcription factor ETV6
TEL1 oncogene
ETS-related protein Tel1
ETS translocation variant 6
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 proteins identical to 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
    Blast Score: 367
    SAM_PNT-Tel_Yan; Sterile alpha motif (SAM)/Pointed domain of Tel/Yan protein
    pfam00178
    Location:338422
    Blast Score: 403
    Ets; Ets-domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38 Primary Assembly

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

Alternate HuRef

Genomic

  1. AC_000144.1 Alternate HuRef

    Range
    11670991..11813778
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...