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Aliases for ETV6 Gene

Aliases for ETV6 Gene

  • Ets Variant 6 2 3
  • TEL 3 4 6
  • Ets Variant Gene 6 (TEL Oncogene) 2 3
  • ETS Translocation Variant 6 3 4
  • ETS-Related Protein Tel1 3 4
  • Transcription Factor ETV6 3
  • TEL1 Oncogene 3
  • TEL Oncogene 2
  • TEL/ABL 3
  • THC5 3
  • TEL1 4

External Ids for ETV6 Gene

Previous GeneCards Identifiers for ETV6 Gene

  • GC12P011530
  • GC12P011947
  • GC12P011703
  • GC12P011694
  • GC12P011802

Summaries for ETV6 Gene

Entrez Gene Summary for ETV6 Gene

  • 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]

GeneCards Summary for ETV6 Gene

ETV6 (Ets Variant 6) is a Protein Coding gene. Diseases associated with ETV6 include thrombocytopenia 5 and congenital mesoblastic nephroma. Among its related pathways are Transcriptional misregulation in cancer and Diurnally regulated genes with circadian orthologs. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and protein domain specific binding. An important paralog of this gene is ELF4.

UniProtKB/Swiss-Prot for ETV6 Gene

  • Transcriptional repressor; binds to the DNA sequence 5-CCGGAAGT-3

Gene Wiki entry for ETV6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETV6 Gene

Genomics for ETV6 Gene

Regulatory Elements for ETV6 Gene

Transcription factor binding sites by QIAGEN in the ETV6 gene promoter:

Genomic Location for ETV6 Gene

Start:
11,649,854 bp from pter
End:
11,895,402 bp from pter
Size:
245,549 bases
Orientation:
Plus strand

Genomic View for ETV6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ETV6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETV6 Gene

Proteins for ETV6 Gene

  • Protein details for ETV6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41212-ETV6_HUMAN
    Recommended name:
    Transcription factor ETV6
    Protein Accession:
    P41212
    Secondary Accessions:
    • A3QVP6
    • A8K076
    • Q9UMF6
    • Q9UMF7
    • Q9UMG0

    Protein attributes for ETV6 Gene

    Size:
    452 amino acids
    Molecular mass:
    53000 Da
    Quaternary structure:
    • Can form homodimers or heterodimers with TEL2 or FLI1. Interacts with L3MBTL1 and HDAC9.
    SequenceCaution:
    • Sequence=ABI30005.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ETV6 Gene

neXtProt entry for ETV6 Gene

Proteomics data for ETV6 Gene at MOPED

Post-translational modifications for ETV6 Gene

  • Phosphorylation of Ser-257 by MAPK14 (p38) inhibits ETV6 transcriptional repression.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ETV6 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ETV6 Gene

Domains for ETV6 Gene

Protein Domains for ETV6 Gene

Suggested Antigen Peptide Sequences for ETV6 Gene

Graphical View of Domain Structure for InterPro Entry

P41212

UniProtKB/Swiss-Prot:

ETV6_HUMAN :
  • P41212
Domain:
  • Contains 1 ETS DNA-binding domain.
  • Contains 1 PNT (pointed) domain.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ETV6: view

No data available for Gene Families for ETV6 Gene

Function for ETV6 Gene

Molecular function for ETV6 Gene

GENATLAS Biochemistry: ETS variant 6,transcriptional repressor,required for hematopoiesis in bone marrow,involved in chronic myelomonocytic leukemia (see CMML) with translocations t(5;12)(q33;p13), t(10;12)(q24;p13);in CML with translocation t(9;12)(q34;p13);in ALL and in B cell precursor ALL with favorable outcome and translocations t(5;12)(q31-q33;p12),t(9;12) (p24;p13),t(12.21)(p13;q22) (see AML1),t(6;12)(q23;p13),(see STL),and in myelodysplasia and myeloproliferative disorders with translocation t(3;12)(q26;p13),(1;12)(p13 or q31;p13) (14;12) (q11;p13) t(12;22) (p13;q11),t(12;15) (p13;q25),t(12;13)(p13-q12),in acute myeloid leukemia with translocation (4;12) (q11-q12;p13) (see CDX2) in congenital fibrosarcoma (CFS),in congenital mesoblastic nephroma and in biphenotypic adult leukemia (BIPL),see MDS1,EVI1,also involved in malignancies with hemizygous deletions
UniProtKB/Swiss-Prot Function: Transcriptional repressor; binds to the DNA sequence 5-CCGGAAGT-3

Gene Ontology (GO) - Molecular Function for ETV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 9018121
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000981 sequence-specific DNA binding RNA polymerase II transcription factor activity IBA --
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription IEA --
GO:0001227 RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription IC --
genes like me logo Genes that share ontologies with ETV6: view
genes like me logo Genes that share phenotypes with ETV6: view

Animal Models for ETV6 Gene

MGI Knock Outs for ETV6:

miRNA for ETV6 Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ETV6 Gene

Localization for ETV6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETV6 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ETV6 Gene COMPARTMENTS Subcellular localization image for ETV6 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ETV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with ETV6: view

Pathways for ETV6 Gene

genes like me logo Genes that share pathways with ETV6: view

Pathways by source for ETV6 Gene

Gene Ontology (GO) - Biological Process for ETV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 10514502
GO:0006355 regulation of transcription, DNA-templated --
GO:0006357 regulation of transcription from RNA polymerase II promoter IBA --
GO:0006366 transcription from RNA polymerase II promoter IBA --
GO:0030154 cell differentiation IBA --
genes like me logo Genes that share ontologies with ETV6: view

Compounds for ETV6 Gene

(6) Novoseek inferred chemical compound relationships for ETV6 Gene

Compound -log(P) Hits PubMed IDs
imatinib 50.5 1
tyrosine 47.8 33
agar 0 1
prednisolone 0 2
retinoic acid 0 2
genes like me logo Genes that share compounds with ETV6: view

Transcripts for ETV6 Gene

Unigene Clusters for ETV6 Gene

Ets variant 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ETV6 Gene

No ASD Table

Relevant External Links for ETV6 Gene

GeneLoc Exon Structure for
ETV6
ECgene alternative splicing isoforms for
ETV6

Expression for ETV6 Gene

mRNA expression in normal human tissues for ETV6 Gene

mRNA differential expression in normal tissues according to GTEx for ETV6 Gene

This gene is overexpressed in Whole Blood (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ETV6 Gene

SOURCE GeneReport for Unigene cluster for ETV6 Gene Hs.504765

mRNA Expression by UniProt/SwissProt for ETV6 Gene

P41212-ETV6_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with ETV6: view

Orthologs for ETV6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETV6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ETV6 35
  • 99.63 (n)
  • 99.56 (a)
ETV6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ETV6 35
  • 92.63 (n)
  • 96.46 (a)
ETV6 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ETV6 35
  • 95.58 (n)
  • 97.79 (a)
ETV6 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Etv6 35
  • 90.29 (n)
  • 91.2 (a)
Etv6 16
Etv6 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ETV6 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETV6 36
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etv6 35
  • 90.34 (n)
  • 94.91 (a)
chicken
(Gallus gallus)
Aves ETV6 35
  • 82.26 (n)
  • 87.58 (a)
TEL 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETV6 36
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etv6 35
  • 71.69 (n)
  • 78.38 (a)
Str.6936 35
zebrafish
(Danio rerio)
Actinopterygii CABZ01030035.1 36
  • 36 (a)
ManyToMany
etv6 35
  • 63.5 (n)
  • 63.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta Eip74EF 36
  • 10 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ets-4 36
  • 16 (a)
OneToMany
Species with no ortholog for ETV6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ETV6 Gene

ENSEMBL:
Gene Tree for ETV6 (if available)
TreeFam:
Gene Tree for ETV6 (if available)

Paralogs for ETV6 Gene

Paralogs for ETV6 Gene

Selected SIMAP similar genes for ETV6 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ETV6: view

Variants for ETV6 Gene

Sequence variations from dbSNP and Humsavar for ETV6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs9870 -- 11,893,444(-) AGTCT(A/G)ACATA utr-variant-3-prime
rs205545 -- 11,693,967(-) ATCTC(C/T)CTAGT intron-variant
rs205546 -- 11,694,805(-) AGAAC(A/G)TCTTA intron-variant
rs729697 -- 11,654,250(-) GGGGC(A/G)CTTAG intron-variant
rs732868 -- 11,814,776(+) GTACA(A/G)ATGTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ETV6 Gene

Variant ID Type Subtype PubMed ID
nsv609 CNV Insertion 18451855
nsv611 CNV Insertion 18451855
dgv186n27 CNV Loss 19166990
nsv832331 CNV Loss 17160897
nsv516796 CNV Loss 19592680
esv2554143 CNV Deletion 19546169
esv2354690 CNV Deletion 18987734
nsv512255 CNV Loss 21212237
esv2745562 CNV Deletion 23290073
nsv826256 CNV Loss 20364138
nsv826257 CNV Loss 20364138
esv29239 CNV Loss 19812545
esv2745564 CNV Deletion 23290073

Relevant External Links for ETV6 Gene

HapMap Linkage Disequilibrium report
ETV6
Human Gene Mutation Database (HGMD)
ETV6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETV6 Gene

Disorders for ETV6 Gene

(1) OMIM Diseases for ETV6 Gene (600618)

UniProtKB/Swiss-Prot

ETV6_HUMAN
  • 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).
  • 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.
  • 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.
  • 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.
  • Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6.
  • Note=A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6.
  • Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2.
  • Myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:131440]: A hematologic disorder characterized by malignant eosinophils proliferation. Note=The gene represented in this entry is involved in disease pathogenesis. 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.
  • Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269 PubMed:15806161}. Note=The gene represented in this entry is involved in disease pathogenesis.
  • Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5.

(3) University of Copenhagen DISEASES for ETV6 Gene

(37) Novoseek inferred disease relationships for ETV6 Gene

Disease -log(P) Hits PubMed IDs
lymphoblastic leukemia acute childhood 87.6 20
lymphoblastic leukemia acute 83.7 28
leukemogenesis 83.5 17
leukemia 76.4 62
hematologic malignancies 73.1 18

Relevant External Links for ETV6

Genetic Association Database (GAD)
ETV6
Human Genome Epidemiology (HuGE) Navigator
ETV6
genes like me logo Genes that share disorders with ETV6: view

Publications for ETV6 Gene

  1. Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. (PMID: 7761424) Golub T.R. … Gilliland D.G. (Proc. Natl. Acad. Sci. U.S.A. 1995) 3 4 23
  2. The t(12;21) of acute lymphoblastic leukemia results in a tel-AML1 gene fusion. (PMID: 7780150) Romana S.P. … Bernard O.A. (Blood 1995) 3 4 23
  3. Fusion of PDGF receptor beta to a novel ets-like gene, tel, in chronic myelomonocytic leukemia with t(5;12) chromosomal translocation. (PMID: 8168137) Golub T.R. … Gilliland D.G. (Cell 1994) 3 4 23
  4. Genomic organization of TEL: the human ETS-variant gene 6. (PMID: 8743990) Baens M. … Marynen P. (Genome Res. 1996) 3 4 23
  5. Functional regulation of TEL by p38-induced phosphorylation. (PMID: 12435397) Arai H. … Mitani K. (Biochem. Biophys. Res. Commun. 2002) 3 4 23

Products for ETV6 Gene

Sources for ETV6 Gene

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