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 vascul... See more...

Aliases for ETV6 Gene

Aliases for ETV6 Gene

  • ETS Variant Transcription Factor 6 2 3
  • ETS Variant 6 2 3 5
  • Ets Variant Gene 6 (TEL Oncogene) 2 3
  • ETS Translocation Variant 6 3 4
  • Transcription Factor ETV6 3 4
  • ETS-Related Protein Tel1 3 4
  • TEL 3 4
  • TEL1 Oncogene 3
  • TEL Oncogene 2
  • TEL/ABL 3
  • THC5 3
  • TEL1 4
  • Tel 4

External Ids for ETV6 Gene

Previous GeneCards Identifiers for ETV6 Gene

  • GC12P011530
  • GC12P011947
  • GC12P011703
  • GC12P011694
  • GC12P011670
  • 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]

CIViC Summary for ETV6 Gene

GeneCards Summary for ETV6 Gene

ETV6 (ETS Variant Transcription Factor 6) is a Protein Coding gene. Diseases associated with ETV6 include Thrombocytopenia 5 and Hematologic Cancer. Among its related pathways are Diurnally Regulated Genes with Circadian Orthologs and Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ETV7.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ETV6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETV6 Gene

Genomics for ETV6 Gene

GeneHancer (GH) Regulatory Elements for ETV6 Gene

Promoters and enhancers for ETV6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J011648 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 519.6 +4.1 4110 11.8 ZNF217 EP300 SIN3A NRF1 MYC POLR2G SP1 PHF8 JUND FOS ETV6 TAS2R19 BCL2L14 piR-59481 AB372613
GH12J011743 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 32.4 +102.2 102241 18.1 EP300 TCF12 USF1 SP1 TEAD4 RELA MEF2C RCOR1 TRIM22 POLR2A lnc-PRB2-3 ETV6 BCL2L14 TAS2R14 DDX55P1 LINC01252 piR-31534-110
GH12J011761 Promoter/Enhancer 2.2 UCNEbase FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.2 +117.4 117350 11.4 ZBTB40 EP300 SIN3A SP1 FOS TEAD4 RFX1 RELA MEF2C RCOR1 ETV6 BCL2L14 lnc-PRB2-3 piR-48209-123
GH12J011828 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 29.4 +185.2 185170 12.2 SIN3A SP1 JUND FOS EP300 TRIM28 REST RELA MEF2C RCOR1 ETV6 BCL2L14 piR-48209-123 lnc-PRB2-3
GH12J011716 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 30.4 +68.8 68771 4.3 EP300 ZSCAN5C NCOR1 JUND FOS ZIC2 ZNF423 AFF1 TRIM28 TRIM22 ETV6 BCL2L14 lnc-PRB2-3 piR-31534-110
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETV6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETV6

Top Transcription factor binding sites by QIAGEN in the ETV6 gene promoter:
  • AML1a

Genomic Locations for ETV6 Gene

Genomic Locations for ETV6 Gene
chr12:11,649,854-11,895,402
(GRCh38/hg38)
Size:
245,549 bases
Orientation:
Plus strand
chr12:11,802,788-12,048,336
(GRCh37/hg19)
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=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ETV6 Gene

neXtProt entry for ETV6 Gene

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

No data available for DME Specific Peptides for ETV6 Gene

Domains & Families for ETV6 Gene

Gene Families for ETV6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ETV6 Gene

Blocks:
  • Sterile alpha motif (SAM)/Pointed domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ETV6 Gene

GenScript: Design optimal peptide antigens:
  • ETS-related protein Tel1 (ETV6_HUMAN)
  • ETV6 protein (Q1XE77_HUMAN)
  • TEL (Q9UBM2_HUMAN)
  • ETV6 protein (Q9UME7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P41212

UniProtKB/Swiss-Prot:

ETV6_HUMAN :
  • Belongs to the ETS family.
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

UniProtKB/Swiss-Prot Function:
Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation.
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

Phenotypes From GWAS Catalog for ETV6 Gene

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 proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IC --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific 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:
  • Etv6 Etv6<tm2.1Sho>
  • Etv6 Etv6<tm1Sho>
  • Etv6 Etv6<tm1.1(RUNX1,hsb5)Lvdw>

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for ETV6

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ETV6 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
extracellular 2
cytoskeleton 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoli (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ETV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA,IEA 21873635
GO:0005730 nucleolus IDA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ETV6: view

Pathways & Interactions for ETV6 Gene

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

SIGNOR curated interactions for ETV6 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ETV6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 10514502
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007296 vitellogenesis IEA --
GO:0022008 neurogenesis IEA --
genes like me logo Genes that share ontologies with ETV6: view

Drugs & Compounds for ETV6 Gene

(6) Drugs for ETV6 Gene - From: ClinicalTrials and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tyrosine Approved, Investigational Nutra 985
ONO-7579 Pharma 1
Pharmaceutical Solutions Pharma 11396
Protein Kinase Inhibitors Pharma 5416

(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

mRNA/cDNA for ETV6 Gene

1 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for ETV6

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

No ASD Table

Relevant External Links for ETV6 Gene

GeneLoc Exon Structure for
ETV6

Expression for ETV6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for ETV6 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETV6

SOURCE GeneReport for Unigene cluster for ETV6 Gene:

Hs.504765

mRNA Expression by UniProt/SwissProt for ETV6 Gene:

P41212-ETV6_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ETV6 Gene

  • Bone marrow(2.8)
  • Blood(2.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ETV6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • skeleton
Regions:
Head and neck:
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • skull
  • thyroid
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ETV6: view

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
chimpanzee
(Pan troglodytes)
Mammalia ETV6 31 30
  • 99.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ETV6 31 30
  • 95.58 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ETV6 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ETV6 31 30
  • 92.63 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Etv6 30
  • 90.34 (n)
mouse
(Mus musculus)
Mammalia Etv6 17 31 30
  • 90.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ETV6 31
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves TEL 31
  • 88 (a)
OneToOne
ETV6 30
  • 82.26 (n)
lizard
(Anolis carolinensis)
Reptilia ETV6 31
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia etv6 30
  • 71.69 (n)
Str.6936 30
zebrafish
(Danio rerio)
Actinopterygii etv6 30 30
  • 63.5 (n)
CABZ01030035.1 31
  • 36 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Eip74EF 31
  • 10 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ets-4 31
  • 16 (a)
OneToMany
Species where no ortholog for ETV6 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ETV6: view image

Paralogs for ETV6 Gene

(2) SIMAP similar genes for ETV6 Gene using alignment to 6 proteins:

  • ETV6_HUMAN
  • H0YG25_HUMAN
  • J3KN52_HUMAN
  • Q1XE77_HUMAN
  • Q9UBM2_HUMAN
  • Q9UME7_HUMAN
genes like me logo Genes that share paralogs with ETV6: view

Variants for ETV6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETV6 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
626971 Likely Pathogenic: Thrombocytopenia 11,884,540(+) C/T MISSENSE_VARIANT
626985 Uncertain Significance: Thrombocytopenia 11,886,024(+) C/G MISSENSE_VARIANT
627138 Uncertain Significance: Thrombocytopenia 11,869,751(+) G/A MISSENSE_VARIANT
627198 Uncertain Significance: Thrombocytopenia 11,884,478(+) T/C MISSENSE_VARIANT
627498 Uncertain Significance: Thrombocytopenia 11,869,373(+) TGTCCTGCCAACTCAC SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT

Additional dbSNP identifiers (rs#s) for ETV6 Gene

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

Variant ID Type Subtype PubMed ID
dgv186n27 CNV loss 19166990
dgv2383n54 CNV loss 21841781
dgv2384n54 CNV loss 21841781
dgv2385n54 CNV loss 21841781
dgv772n106 CNV deletion 24896259
esv2354690 CNV deletion 18987734
esv2554143 CNV deletion 19546169
esv2745562 CNV deletion 23290073
esv2745564 CNV deletion 23290073
esv29239 CNV loss 19812545
esv3548763 CNV deletion 23714750
esv3548765 CNV deletion 23714750
esv3580152 CNV loss 25503493
esv3580153 CNV loss 25503493
esv3628595 CNV loss 21293372
esv3628596 CNV loss 21293372
nsv1046355 CNV loss 25217958
nsv1053609 CNV loss 25217958
nsv1068253 CNV deletion 25765185
nsv1070094 CNV deletion 25765185
nsv1070095 CNV deletion 25765185
nsv1070513 CNV deletion 25765185
nsv1134200 CNV deletion 24896259
nsv472092 CNV novel sequence insertion 20440878
nsv512255 CNV loss 21212237
nsv516796 CNV loss 19592680
nsv557576 CNV loss 21841781
nsv557579 CNV loss 21841781
nsv609 CNV insertion 18451855
nsv611 CNV insertion 18451855
nsv826256 CNV loss 20364138
nsv826257 CNV loss 20364138
nsv832331 CNV loss 17160897
nsv951328 CNV duplication 24416366
nsv957256 CNV deletion 24416366
nsv957403 CNV deletion 24416366

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)

Additional Variant Information for ETV6 Gene

Human Gene Mutation Database (HGMD)
ETV6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETV6

SNP Genotyping and Copy Number Assay Products

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

Disorders for ETV6 Gene

MalaCards: The human disease database

(59) MalaCards diseases for ETV6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thrombocytopenia 5
  • thc5
hematologic cancer
  • blood cancer
chronic myelomonocytic leukemia
  • leukemia, myelomonocytic, chronic
fibrosarcoma
  • fibrocytic tumor
leukemia, acute myeloid
  • aml
- 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
  • 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=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}.
  • 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 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 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 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 myelodysplastic syndrome (MDS). Translocation t(1;12)(p36.1;p13) with MDS2. {ECO:0000269 PubMed:12203785}.
  • Note=A chromosomal aberration involving ETV6 is found in acute lymphoblastic leukemia. Translocation t(9;12)(p13;p13) with PAX5. {ECO:0000269 PubMed:17344859}.
  • 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}.
  • 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.
  • 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.

Additional Disease Information for ETV6

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

No data available for Genatlas for ETV6 Gene

Publications for ETV6 Gene

  1. Somatic heterozygous mutations in ETV6 (TEL) and frequent absence of ETV6 protein in acute myeloid leukemia. (PMID: 15806161) Barjesteh van Waalwijk van Doorn-Khosrovani S … Delwel R (Oncogene 2005) 3 4 23 54
  2. The human L(3)MBT polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6). (PMID: 12588862) Boccuni P … Nimer SD (The Journal of biological chemistry 2003) 3 4 23 54
  3. Functional regulation of TEL by p38-induced phosphorylation. (PMID: 12435397) Arai H … Mitani K (Biochemical and biophysical research communications 2002) 3 4 23 54
  4. Genomic organization of TEL: the human ETS-variant gene 6. (PMID: 8743990) Baens M … Marynen P (Genome research 1996) 3 4 23 54
  5. Fusion of the TEL gene on 12p13 to the AML1 gene on 21q22 in acute lymphoblastic leukemia. (PMID: 7761424) Golub TR … Gilliland DG (Proceedings of the National Academy of Sciences of the United States of America 1995) 3 4 23 54

Products for ETV6 Gene

  • Boster Bio Antibodies for ETV6
  • Boster Bio ELISA Kits for ETV6

Sources for ETV6 Gene