Human Gene ETV6 (uc001qzz.3) Description and Page Index
  Description: Homo sapiens ets variant 6 (ETV6), mRNA.
RefSeq Summary (NM_001987): 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]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: BC043399.1, U11732.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr12:11,802,788-12,048,325 Size: 245,538 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr12:11,803,062-12,043,980 Size: 240,919 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:11,802,788-12,048,325)mRNA (may differ from genome)Protein (452 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: ETV6_HUMAN
DESCRIPTION: RecName: Full=Transcription factor ETV6; AltName: Full=ETS translocation variant 6; AltName: Full=ETS-related protein Tel1; Short=Tel;
FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'- CCGGAAGT-3'.
SUBUNIT: Can form homodimers or heterodimers with TEL2 or FLI1. Interacts with L3MBTL1 and HDAC9.
INTERACTION: Q9UKV0-3:HDAC9; NbExp=3; IntAct=EBI-1372759, EBI-765476;
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Ubiquitous.
PTM: Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression.
DISEASE: Note=A chromosomal aberration involving ETV6 is found in a form of chronic myelomonocytic leukemia (CMML). Translocation t(5;12)(q33;p13) with PDGFRB. It is characterized by abnormal clonal myeloid proliferation and by progression to acute myelogenous leukemia (AML).
DISEASE: Note=Chromosomal aberrations involving ETV6 are found in a form of acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1; translocation t(4;12)(q12;p13) with CHIC2.
DISEASE: Note=Chromosomal aberrations involving ETV6 are found in childhood acute lymphoblastic leukemia (ALL). Translocations t(12;21)(p12;q22) and t(12;21)(p13;q22) with RUNX1/AML1.
DISEASE: Note=A chromosomal aberration involving ETV6 is found in a form of pre-B acute myeloid leukemia. Translocation t(9;12)(p24;p13) with JAK2.
DISEASE: Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6.
DISEASE: Note=A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6.
DISEASE: Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.
DISEASE: Defects in ETV6 are a cause of myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:131440]. A hematologic disorder characterized by malignant eosinophils proliferation. Note=A chromosomal aberration involving ETV6 is found in many instances of myeloproliferative disorder chronic with eosinophilia. Translocation t(5;12) with PDGFRB on chromosome 5 creating an ETV6-PDGFRB fusion protein.
DISEASE: Defects in ETV6 are a cause of acute myelogenous leukemia (AML) [MIM:601626]. AML is a malignant disease in which hematopoietic precursors are arrested in an early stage of development.
DISEASE: Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.
SIMILARITY: Belongs to the ETS family.
SIMILARITY: Contains 1 ETS DNA-binding domain.
SIMILARITY: Contains 1 PNT (pointed) domain.
SEQUENCE CAUTION: Sequence=ABI30005.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/ETV6ID38.html";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ETV6
CDC HuGE Published Literature: ETV6
Positive Disease Associations: Blood Flow Velocity , Body Height , Carotid Stenosis , Echocardiography , height , Hemoglobin A, Glycosylated , Hypertension , Parkinson Disease , Socioeconomic Factors , Stroke
Related Studies:
  1. Blood Flow Velocity
    Ramachandran S Vasan et al. BMC medical genetics 2007, Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study., BMC medical genetics. [PubMed 17903301]
    In hypothesis-generating GWAS of echocardiography, ETT and BA vascular function in a moderate-sized community-based sample, we identified several SNPs that are candidates for replication attempts and we provide a web-based GWAS resource for the research community.
  2. Body Height
    Daniel F Gudbjartsson et al. Nature genetics 2008, Many sequence variants affecting diversity of adult human height., Nature genetics. [PubMed 18391951]
  3. Body Height
    Hana Lango Allen et al. Nature 2010, Hundreds of variants clustered in genomic loci and biological pathways affect human height., Nature. [PubMed 20881960]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: ETV6
Diseases sorted by gene-association score: thrombocytopenia 5* (1328), thrombocytopenia* (441), hematologic cancer* (427), chronic myelomonocytic leukemia* (397), congenital mesoblastic nephroma* (384), leukemia, acute myeloid* (380), platelet disorder, familial, with associated myeloid malignancy* (247), cerebral sarcoma* (247), leukemia, acute lymphoblastic 3* (212), primary hypereosinophilic syndrome* (157), leukemia, acute lymphoblastic* (145), acute myeloid leukemia, flt3-related* (121), differentiated thyroid carcinoma* (80), fibrosarcoma (51), congenital fibrosarcoma (46), acute lymphoblastic leukemia, childhood (29), mn1 (20), ring chromosome 21 (17), acute leukemia (17), lymphoid leukemia (13), pediatric fibrosarcoma (13), childhood leukemia (12), lymphoblastic leukemia (12), breast secretory carcinoma (12), cellular congenital mesoblastic nephroma (12), adult mesoblastic nephroma (11), myelodysplastic syndrome (11), leukemia (10), acute lymphocytic leukemia (9), myeloid leukemia (9), acute basophilic leukemia (9), adult fibrosarcoma (8), peripheral t-cell lymphoma (8), loeffler endocarditis (7), myeloproliferative neoplasm (6), acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (6), acinar cell carcinoma (5), malignant mesenchymoma (4), bone marrow cancer (3), leukemia, chronic myeloid, somatic (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 19.16 RPKM in Minor Salivary Gland
Total median expression: 299.49 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -111.20274-0.406 Picture PostScript Text
3' UTR -1333.554345-0.307 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000418 - Ets
IPR003118 - Pointed_dom
IPR013761 - SAM/pointed
IPR011991 - WHTH_trsnscrt_rep_DNA-bd

Pfam Domains:
PF00178 - Ets-domain
PF02198 - Sterile alpha motif (SAM)/Pointed domain

SCOP Domains:
46785 - "Winged helix" DNA-binding domain
47769 - SAM/Pointed domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1JI7
- X-ray MuPIT

1LKY
- X-ray MuPIT

2DAO
- NMR MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2QAR - X-ray 2QB0 - X-ray 2QB1 - X-ray


ModBase Predicted Comparative 3D Structure on P41212
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsemblFlyBase  
 Protein SequenceProtein SequenceProtein Sequence  
 AlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007296 vitellogenesis
GO:0022008 neurogenesis
GO:0030154 cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0071425 hematopoietic stem cell proliferation
GO:0097152 mesenchymal cell apoptotic process

Cellular Component:
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK289441 - Homo sapiens cDNA FLJ75239 complete cds, highly similar to Homo sapiens ets variant gene 6 (TEL oncogene), mRNA.
BC043399 - Homo sapiens ets variant 6, mRNA (cDNA clone MGC:50884 IMAGE:6014394), complete cds.
U11732 - Human ets-like gene (tel) mRNA, complete cds.
AB385079 - Synthetic construct DNA, clone: pF1KB5299, Homo sapiens ETV6 gene for transcription factor ETV6, complete cds, without stop codon, in Flexi system.
EU446474 - Synthetic construct Homo sapiens clone IMAGE:100070122; IMAGE:100011683; FLH257486.01L ets variant gene 6 (TEL oncogene) (ETV6) gene, encodes complete protein.
KJ891128 - Synthetic construct Homo sapiens clone ccsbBroadEn_00522 ETV6 gene, encodes complete protein.
Z35761 - Homo sapiens TEL/ABL fusion protien.
CU692162 - Synthetic construct Homo sapiens gateway clone IMAGE:100021393 5' read ETV6 mRNA.
KU178049 - Homo sapiens ets variant 6 isoform 1 (ETV6) mRNA, partial cds.
KU178050 - Homo sapiens ets variant 6 isoform 2 (ETV6) mRNA, complete cds, alternatively spliced.
FR719953 - Homo sapiens mRNA for translocation breakpoint in acute myeloid leukemia (ETV6-PRDM16 gene fusion).
DQ451147 - Homo sapiens TEL-BCLG-AML fusion protein (TEL/BCLG/AML fusion) mRNA, partial cds.
MK172837 - Homo sapiens ETV6/NUFIP1 fusion, partial sequence.
MK172836 - Homo sapiens ETV6/SNUPN fusion, partial sequence.
DQ841178 - Homo sapiens B-cell lineage specific activator/TEL oncogene fusion protein (PAX5/ETV6 fusion) mRNA, complete cds.
MH401092 - Homo sapiens ETV6-RUNX1 fusion protein mRNA, partial cds.
JD116200 - Sequence 97224 from Patent EP1572962.
JD099437 - Sequence 80461 from Patent EP1572962.
JD184031 - Sequence 165055 from Patent EP1572962.
JD540489 - Sequence 521513 from Patent EP1572962.
JD182801 - Sequence 163825 from Patent EP1572962.
JD084759 - Sequence 65783 from Patent EP1572962.
BC020284 - Homo sapiens ets variant 6, mRNA (cDNA clone IMAGE:4480192).
BC061911 - Homo sapiens cDNA clone IMAGE:4395373, partial cds.
DQ584860 - Homo sapiens piRNA piR-51972, complete sequence.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04320 - Dorso-ventral axis formation

-  Other Names for This Gene
  Alternate Gene Symbols: A3QVP6, A8K076, ETV6_HUMAN, NM_001987, NP_001978, P41212, Q9UMF6, Q9UMF7, Q9UMG0, TEL, TEL1
UCSC ID: uc001qzz.3
RefSeq Accession: NM_001987
Protein: P41212 (aka ETV6_HUMAN)
CCDS: CCDS8643.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001987.4
exon count: 8CDS single in 3' UTR: no RNA size: 5989
ORF size: 1359CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2856.50frame shift in genome: no % Coverage: 99.82
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.