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Aliases for ETV7 Gene

Aliases for ETV7 Gene

  • ETS Variant 7 2 3 5
  • Ets Variant Gene 7 (TEL2 Oncogene) 2 3
  • ETS Translocation Variant 7 3 4
  • ETS-Related Protein Tel2 3 4
  • Tel-Related Ets Factor 3 4
  • TEL2 Oncogene 2 3
  • TEL2 3 4
  • TELB 3 4
  • Ets Transcription Factor TEL-2b 3
  • Transcription Factor Tel-2 4
  • Transcription Factor ETV7 3
  • TEL-2 3
  • TREF 4

External Ids for ETV7 Gene

Previous GeneCards Identifiers for ETV7 Gene

  • GC06M036323
  • GC06M036380
  • GC06M036430
  • GC06M036052
  • GC06M036381
  • GC06M036383
  • GC06M036536
  • GC06M036680
  • GC06M037030
  • GC06M037380
  • GC06M037736
  • GC06M038083

Summaries for ETV7 Gene

Entrez Gene Summary for ETV7 Gene

  • The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]

GeneCards Summary for ETV7 Gene

ETV7 (ETS Variant 7) is a Protein Coding gene. Diseases associated with ETV7 include Ewing Sarcoma. Among its related pathways are Transcriptional misregulation in cancer. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and RNA polymerase II transcription factor activity, sequence-specific DNA binding. An important paralog of this gene is ETV6.

UniProtKB/Swiss-Prot for ETV7 Gene

  • Transcriptional repressor; binds to the DNA sequence 5-CCGGAAGT-3. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity.

Gene Wiki entry for ETV7 Gene

Additional gene information for ETV7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETV7 Gene

Genomics for ETV7 Gene

GeneHancer (GH) Regulatory Elements for ETV7 Gene

Promoters and enhancers for ETV7 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
GH06J036386 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 697 +0.4 422 2.5 CTCF MEIS2 IRF2 SUZ12 NFIB EBF1 EED RUNX3 EZH2 STAT1 ETV7 LOC105375037 KCTD20
GH06J036422 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 51.4 -35.7 -35730 2 CLOCK MLX ARID4B SIN3A ZNF2 YY1 POLR2B ZNF766 E2F8 ZNF207 ETV7 STK38 KCTD20 MAPK14 SRSF3 ENSG00000237719 LOC105375037 C6orf222 PI16 MAPK13
GH06J036439 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 31.9 -55.0 -55047 6.9 MLX FEZF1 DMAP1 YY1 E2F8 ZNF143 SP3 NFYC MEF2D SSRP1 KCTD20 PXT1 ETV7 SRSF3 LOC105375037 RNF8 CDKN1A RPL10A PI16 MAPK14
GH06J036541 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 26.3 -157.4 -157414 7.1 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF213 STK38 SRPK1 SRSF3 ETV7 ENSG00000219023 MAPK14 KCTD20 CMTR1 ENSG00000237719 RN7SL748P
GH06J036592 Promoter/Enhancer 3.2 UCNEbase EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.4 -209.6 -209619 10.7 CLOCK MLX ZFP64 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 SRSF3 C6orf89 CMTR1 KCTD20 BRPF3 MAPK14 CDKN1A LAP3P2 RAB44 STK38
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ETV7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ETV7 gene promoter:
  • STAT1
  • AP-1
  • MyoD
  • RP58
  • FOXL1
  • Bach2
  • Bach1
  • N-Myc

Genomic Locations for ETV7 Gene

Genomic Locations for ETV7 Gene
chr6:36,354,091-36,387,800
(GRCh38/hg38)
Size:
33,710 bases
Orientation:
Minus strand
chr6:36,321,998-36,356,164
(GRCh37/hg19)
Size:
34,167 bases
Orientation:
Minus strand

Genomic View for ETV7 Gene

Genes around ETV7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETV7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETV7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETV7 Gene

Proteins for ETV7 Gene

  • Protein details for ETV7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y603-ETV7_HUMAN
    Recommended name:
    Transcription factor ETV7
    Protein Accession:
    Q9Y603
    Secondary Accessions:
    • B3KVC2
    • B4DVB6
    • B4E1G4
    • Q5R3L3
    • Q5R3L4
    • Q9NZ65
    • Q9NZ66
    • Q9NZ68
    • Q9NZR8
    • Q9UNJ7
    • Q9Y5K4
    • Q9Y604

    Protein attributes for ETV7 Gene

    Size:
    341 amino acids
    Molecular mass:
    38998 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ETV7 Gene

neXtProt entry for ETV7 Gene

Post-translational modifications for ETV7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ETV7 Gene

Domains & Families for ETV7 Gene

Gene Families for ETV7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for ETV7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y603

UniProtKB/Swiss-Prot:

ETV7_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ETV7: view

Function for ETV7 Gene

Molecular function for ETV7 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional repressor; binds to the DNA sequence 5-CCGGAAGT-3. Isoform A does not seem to have a repressor activity. Isoform C does not seem to have a repressor activity.

Phenotypes From GWAS Catalog for ETV7 Gene

Gene Ontology (GO) - Molecular Function for ETV7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 11108721
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS 19274049
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 11108721
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with ETV7: view
genes like me logo Genes that share phenotypes with ETV7: view

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ETV7 Gene

Localization for ETV7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETV7 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 ETV7 gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ETV7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 10828014
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with ETV7: view

Pathways & Interactions for ETV7 Gene

genes like me logo Genes that share pathways with ETV7: view

Pathways by source for ETV7 Gene

1 KEGG pathway for ETV7 Gene

Gene Ontology (GO) - Biological Process for ETV7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 11108721
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA --
GO:0006366 transcription by RNA polymerase II TAS 10828014
genes like me logo Genes that share ontologies with ETV7: view

No data available for SIGNOR curated interactions for ETV7 Gene

Drugs & Compounds for ETV7 Gene

(4) Drugs for ETV7 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for ETV7 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ETV7: view

Transcripts for ETV7 Gene

Unigene Clusters for ETV7 Gene

Ets variant 7:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ETV7 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1: - -
SP2: -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - - -
SP7: - -
SP8: -

Relevant External Links for ETV7 Gene

GeneLoc Exon Structure for
ETV7
ECgene alternative splicing isoforms for
ETV7

Expression for ETV7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ETV7 Gene

mRNA differential expression in normal tissues according to GTEx for ETV7 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x5.1) and Skin - Not Sun Exposed (Suprapubic) (x4.9).

NURSA nuclear receptor signaling pathways regulating expression of ETV7 Gene:

ETV7

SOURCE GeneReport for Unigene cluster for ETV7 Gene:

Hs.272398

mRNA Expression by UniProt/SwissProt for ETV7 Gene:

Q9Y603-ETV7_HUMAN
Tissue specificity: Expressed in hematopoietic tissues.

Evidence on tissue expression from TISSUES for ETV7 Gene

  • Blood(4.1)
  • Intestine(4.1)
  • Lung(4.1)
  • Pancreas(4.1)
  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with ETV7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ETV7 Gene

Orthologs for ETV7 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETV7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ETV7 34 33
  • 99.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ETV7 34 33
  • 83.73 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ETV7 34
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETV7 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETV7 34 33
  • 62.93 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ETV7 34
  • 44 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii etv7 34 33
  • 55.96 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eip74EF 34
  • 8 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ets-4 34
  • 16 (a)
OneToMany
Species where no ortholog for ETV7 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)
  • cow (Bos Taurus)
  • 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)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ETV7 Gene

ENSEMBL:
Gene Tree for ETV7 (if available)
TreeFam:
Gene Tree for ETV7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETV7: view image

Paralogs for ETV7 Gene

Paralogs for ETV7 Gene

(1) SIMAP similar genes for ETV7 Gene using alignment to 1 proteins:

  • ETV7_HUMAN
genes like me logo Genes that share paralogs with ETV7: view

Variants for ETV7 Gene

Sequence variations from dbSNP and Humsavar for ETV7 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000021951 -- 36,363,229(-) C/A/T genic_downstream_transcript_variant, intron_variant
rs1000052162 -- 36,369,247(-) A/G intron_variant
rs1000176104 -- 36,367,831(-) T/G intron_variant
rs1000196483 -- 36,355,321(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000227509 -- 36,355,643(-) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ETV7 Gene

Variant ID Type Subtype PubMed ID
nsv473235 CNV novel sequence insertion 20440878
nsv1150801 CNV insertion 26484159
nsv1119081 CNV deletion 24896259
esv8401 CNV gain 19470904
esv2762586 CNV gain 21179565
esv1651866 CNV insertion 17803354

Variation tolerance for ETV7 Gene

Residual Variation Intolerance Score: 81.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.35; 63.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETV7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETV7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETV7 Gene

Disorders for ETV7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ETV7 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
ewing sarcoma
  • es
- elite association - COSMIC cancer census association via MalaCards
Search ETV7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ETV7

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 ETV7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ETV7 Gene

Publications for ETV7 Gene

  1. Identification and characterization of a new human ETS-family transcription factor, TEL2, that is expressed in hematopoietic tissues and can associate with TEL1/ETV6. (PMID: 10828014) Potter MD … Grosveld GC (Blood 2000) 2 3 4 22 58
  2. Tel-2 is a novel transcriptional repressor related to the Ets factor Tel/ETV-6. (PMID: 11108721) Gu X … Libermann TA (The Journal of biological chemistry 2001) 2 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ETV7 Gene

Sources for ETV7 Gene

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