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Aliases for ETV6 Gene

Aliases for ETV6 Gene

  • ETS Variant 6 2 3
  • Ets Variant Gene 6 (TEL Oncogene) 2 3
  • ETS Translocation Variant 6 3 4
  • ETS-Related Protein Tel1 3 4
  • TEL 3 4
  • TEL1 Oncogene 3
  • Ets Variant 6 5
  • TEL Oncogene 2
  • TEL/ABL 3
  • TEL1 4
  • THC5 3

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 Leukemia, Acute Myeloid. Among its related pathways are Dorso-ventral axis formation and Diurnally regulated genes with circadian orthologs. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA 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. Plays a role in hematopoiesis and malignant transformation.

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

Enhancers for ETV6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ETV6 on UCSC Golden Path with GeneCards custom track

Promoters for ETV6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ETV6 on UCSC Golden Path with GeneCards custom track

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

Genomic Location for ETV6 Gene

Chromosome:
12
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

Genes around ETV6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETV6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:

Antibody Products

No data available for DME Specific Peptides for ETV6 Gene

Domains & Families for ETV6 Gene

Gene Families 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 :
  • Contains 1 ETS DNA-binding domain.
  • Belongs to the ETS family.
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

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. Plays a role in hematopoiesis and malignant transformation.

Gene Ontology (GO) - Molecular Function for ETV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding IEA --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0005515 protein binding IEA,IPI 12590135
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with ETV6: view
genes like me logo Genes that share phenotypes with ETV6: view

Human Phenotype Ontology for ETV6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ETV6 Gene

MGI Knock Outs for ETV6:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 2
cytoskeleton 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for ETV6 Gene

Pathways & Interactions for ETV6 Gene

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

Pathways by source for ETV6 Gene

SIGNOR curated interactions for ETV6 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ETV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030154 cell differentiation IEA,IBA --
genes like me logo Genes that share ontologies with ETV6: view

Drugs & Compounds for ETV6 Gene

(3) Drugs for ETV6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for ETV6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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 (x4.9).

Protein differential expression in normal tissues from HIPED for ETV6 Gene

This gene is overexpressed in Salivary gland (36.8), Peripheral blood mononuclear cells (10.1), Blymphocyte (7.2), and Monocytes (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ETV6: view

Primer Products

No data available for Protein tissue co-expression partners for ETV6 Gene

Orthologs for ETV6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETV6 Gene

Organism Taxonomy Gene Similarity Type Details
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
chimpanzee
(Pan troglodytes)
Mammalia ETV6 35
  • 99.63 (n)
  • 99.56 (a)
ETV6 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etv6 35
  • 90.34 (n)
  • 94.91 (a)
oppossum
(Monodelphis domestica)
Mammalia ETV6 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETV6 36
  • 83 (a)
OneToOne
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 etv6 35
  • 63.5 (n)
  • 63.42 (a)
CABZ01030035.1 36
  • 36 (a)
ManyToMany
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

(2) 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
VAR_073322 Thrombocytopenia 5 (THC5)
VAR_073323 Thrombocytopenia 5 (THC5)
VAR_073324 Thrombocytopenia 5 (THC5)
rs1981440 -- 11,817,656(+) AAAGT(C/T)ATCTT intron-variant
rs1984382 -- 11,749,114(+) TTTTT(A/G)CGGCA 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

Variation tolerance for ETV6 Gene

Residual Variation Intolerance Score: 17.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.86; 34.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ETV6 Gene

Human Gene Mutation Database (HGMD)
ETV6

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

Disorders for ETV6 Gene

MalaCards: The human disease database

(34) MalaCards diseases for ETV6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombocytopenia 5
  • thc5
leukemia, acute myeloid
  • leukemia, acute myeloid, somatic
fibrosarcoma
  • fibrocytic tumor
chronic myelomonocytic leukemia
  • myelomonocytic leukemia, chronic
congenital mesoblastic nephroma
  • nephroma, mesoblastic
- elite association - COSMIC cancer census association via MalaCards
Search ETV6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ETV6_HUMAN
  • 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.
  • Myeloproliferative disorder chronic with eosinophilia (MPE) [MIM:131440]: A hematologic disorder characterized by malignant eosinophils proliferation. {ECO:0000269 PubMed:12181402}. 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. {ECO:0000269 PubMed:12181402}.
  • Note=A chromosomal aberration involving ETV6 and JAK2 is found in an atypical chronic myelogenous leukemia. Translocation t(9;15;12)(p24;q15;p13). {ECO:0000269 PubMed:9326218}.
  • 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). {ECO:0000269 PubMed:8168137}.
  • Note=A chromosomal aberration involving ETV6 is found in a form of pre-B acute lymphoid leukemia. Translocation t(9;12)(p24;p13) with JAK2. {ECO:0000269 PubMed:9326218}.
  • Note=A chromosomal aberration involving ETV6 is found in acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ACSL6. {ECO:0000269 PubMed:10502316}.
  • Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5. {ECO:0000269 PubMed:17344859}.
  • Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS) with basophilia. Translocation t(5;12)(q31;p13) with ACSL6. {ECO:0000269 PubMed:10502316}.
  • Note=A chromosomal aberration involving ETV6 is found in myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2. {ECO:0000269 PubMed:12203785}.
  • Note=Chromosomal aberrations involving ETV6 are found in acute myeloid leukemia (AML). Translocation t(12;22)(p13;q11) with MN1 (PubMed:7731705). Translocation t(4;12)(q12;p13) with CHIC2 (PubMed:10477709). {ECO:0000269 PubMed:10477709, ECO:0000269 PubMed:7731705}.
  • 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. {ECO:0000269 PubMed:7761424}.
  • Thrombocytopenia 5 (THC5) [MIM:616216]: Thrombocytopenia is defined by a decrease in the number of platelets in circulating blood, resulting in the potential for increased bleeding and decreased ability for clotting. THC5 is an autosomal dominant disorder, associated with an increased susceptibility to the development of hematologic and solid malignancies. {ECO:0000269 PubMed:25581430}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ETV6

Genetic Association Database (GAD)
ETV6
Human Genome Epidemiology (HuGE) Navigator
ETV6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ETV6
genes like me logo Genes that share disorders with ETV6: view

No data available for Genatlas for ETV6 Gene

Publications for ETV6 Gene

  1. Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11. (PMID: 7731705) Buijs A. … Hagemeijer A. (Oncogene 1995) 2 3 4 67
  2. [Prognostic significance of TEL/AML1 rearrangement and its additional genetic changes in Korean childhood precursor B-acute lymphoblastic leukemia]. (PMID: 20197715) Chung H.Y. … Seo E.J. (Korean J Lab Med 2010) 3 23
  3. DNA binding by the ETS protein TEL (ETV6) is regulated by autoinhibition and self-association. (PMID: 20400516) Green S.M. … Graves B.J. (J. Biol. Chem. 2010) 3 23
  4. Disruption of ETV6 in intron 2 results in upregulatory and insertional events in childhood acute lymphoblastic leukaemia. (PMID: 17972957) Jalali G.R. … Martineau M. (Leukemia 2008) 3 23
  5. ETV6-NCOA2: a novel fusion gene in acute leukemia associated with coexpression of T-lymphoid and myeloid markers and frequent NOTCH1 mutations. (PMID: 18281529) Strehl S. … Izraeli S. (Clin. Cancer Res. 2008) 3 23

Products for ETV6 Gene

Sources for ETV6 Gene

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