ETV7 Gene (Protein Coding)

ETS Variant Transcription Factor 7

GC06M045191
GIFtS:
37
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. Sev... See more...

Aliases for ETV7 Gene

Aliases for ETV7 Gene

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

External Ids for ETV7 Gene

Previous GeneCards Identifiers for ETV7 Gene

  • GC06M036323
  • GC06M036380
  • GC06M036430
  • GC06M036052
  • GC06M036381
  • GC06M036383
  • GC06M038969
  • GC06M039788
  • GC06M039966
  • GC06M041299
  • GC06M036536
  • GC06M036680
  • GC06M037030
  • GC06M037380
  • GC06M037736
  • GC06M038083
  • GC06M038472
  • GC06M038818
  • GC06M042229
  • GC06M043484

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

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ETV7 Gene

Genomics for ETV7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 1.3 EPDnew Ensembl ENCODE 297 +0.5 485 2.6 NFIC CTCF IRF2 GABPB1 EBF1 SPI1 MXD3 ZEB2 TAF1 CBX2 ETV7 ETV7-AS1 KCTD20 BNIP5 MK280144-578
GH06J036422 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 51.4 -35.7 -35730 2 BCLAF1 ZNF207 ZNF654 MYC IKZF1 ZNF600 ZNF592 KLF9 CEBPA POLR2A ETV7 MAPK13 KCTD20 ETV7-AS1 BNIP5 STK38 PI16 PXT1 SRSF3 CDKN1A
GH06J036439 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 31.9 -55.0 -55047 6.9 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 SSRP1 JUND ZNF580 KCTD20 PXT1 lnc-PNPLA1-1 ETV7 CMTR1 SRSF3 BRPF3 TEAD3 ETV7-AS1 CDKN1A
GH06J036541 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 26.3 -157.4 -157414 7.1 BCLAF1 NCOR1 MYC IKZF1 ZNF600 POLR2A ZNF223 ZIC2 ZBTB10 REST STK38 SRPK1 SRSF3 ETV7 RPS15AP19 MAPK14 KCTD20 CMTR1 ENSG00000237719 HSALNG0049754
GH06J036427 Enhancer 1.2 Ensembl ENCODE dbSUPER 38.5 -40.4 -40378 0.8 NCOR1 IKZF1 ZNF592 NFIC CEBPB HES1 TBP MNT ARNT NFATC3 ETV7 ETV7-AS1 STK38 PI16 PXT1 KCTD20 piR-57461-206 RF00017-4993 MK280144-578
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETV7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETV7

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

Genomic Locations for ETV7 Gene

Latest Assembly
chr6:36,354,088-36,387,800
(GRCh38/hg38)
Size:
33,713 bases
Orientation:
Minus strand

Previous Assembly
chr6:36,321,865-36,355,446
(GRCh37/hg19 by Entrez Gene)
Size:
33,582 bases
Orientation:
Minus strand

chr6:36,322,419-36,356,164
(GRCh37/hg19 by Ensembl)
Size:
33,746 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 Structure • Gene Density

RefSeq DNA sequence for ETV7 Gene

Proteins for ETV7 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • 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

    UniProtKB/Swiss-Prot:

neXtProt entry for ETV7 Gene

Post-translational modifications for ETV7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ETV7 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for ETV7

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

Protein Domains for ETV7 Gene

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

Suggested Antigen Peptide Sequences for ETV7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50241, highly similar to Transcription factor ETV7 (B4DVB6_HUMAN)
  • Transcription factor Tel-2 (ETV7_HUMAN)

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

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

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 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific 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 Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETV7

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

Nucleus.

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
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ETV7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus TAS,IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0042025 host cell nucleus IEA --
genes like me logo Genes that share ontologies with ETV7: view

Pathways & Interactions for ETV7 Gene

PathCards logo

SuperPathways 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:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006366 transcription by RNA polymerase II TAS 10828014
GO:0009887 animal organ morphogenesis 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

Products:

  1. Drug products for research

(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

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for ETV7 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETV7

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

Expression for ETV7 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for ETV7 Gene
mRNA expression by BioGPS for ETV7 GenemRNA expression by GTEx 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.4)
  • Nervous system(4.3)
  • Intestine(4.2)
  • Pancreas(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with ETV7: view

Primer products for research

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 29 30
  • 99.32 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ETV7 29 30
  • 83.73 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ETV7 30
  • 65 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ETV7 30
  • 59 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ETV7 29 30
  • 62.93 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ETV7 30
  • 44 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii etv7 29 30
  • 55.96 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Eip74EF 30
  • 8 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea ets-4 30
  • 16 (a)
 OneToMany
Species where no ortholog for ETV7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for ETV7

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

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETV7 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs115876066 Benign: not provided 36,371,364(-) C/T
NM_016135.4(ETV7):c.630G>A (p.Ala210=) 		SYNONYMOUS_VARIANT,INTRON
rs138338549 Benign: not provided 36,369,026(-) G/A
NM_016135.4(ETV7):c.710C>T (p.Thr237Ile) 		MISSENSE
rs2234079 -- p.Pro212Leu
rs2234080 -- p.Ala250Val
rs34306145 -- p.Gly199Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ETV7 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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
Leiden Open Variation Database (LOVD)
ETV7

SNP Genotyping and Copy Number Assays for research

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

Disorders for ETV7 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ETV7 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
ewing sarcoma
  • es
progressive myoclonus epilepsy 7
  • epm7
fetishism
  • fetishism, psychiatric
- 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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
  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 40
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for ETV7 gene in Mastermind

Products for ETV7 Gene

  • Addgene plasmids for ETV7

Sources for ETV7 Gene