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ETV4 Gene(Protein Coding)

ETS Variant 4

GCID:
GC17M043527
GIFtS:
52
Genes Participants
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Aliases for ETV4 Gene

Aliases for ETV4 Gene

  • ETS Variant 4 2 3 5
  • Ets Variant Gene 4 (E1A Enhancer-Binding Protein, E1AF) 2 3
  • Polyomavirus Enhancer Activator 3 Homolog 3 4
  • Adenovirus E1A Enhancer-Binding Protein 3 4
  • E1A-F 3 4
  • E1AF 3 4
  • PEA3 3 4
  • EWS Protein/E1A Enhancer Binding Protein Chimera 3
  • E1A Enhancer Binding Protein 2
  • ETS Translocation Variant 4 3
  • Protein PEA3 4
  • PEAS3 3

External Ids for ETV4 Gene

Previous GeneCards Identifiers for ETV4 Gene

  • GC17U990026
  • GC17M043782
  • GC17M041615
  • GC17M042080
  • GC17M038960
  • GC17M037370
  • GC17M041605

Summaries for ETV4 Gene

CIViC summary for ETV4 Gene

GeneCards Summary for ETV4 Gene

ETV4 (ETS Variant 4) is a Protein Coding gene. Diseases associated with ETV4 include Ewing Sarcoma and Extraosseous Ewing's Sarcoma. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and RET signaling. 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 ETV1.

UniProtKB/Swiss-Prot for ETV4 Gene

  • Transcriptional activator that binds to the enhancer of the adenovirus E1A gene; the core-binding sequence is 5[AC]GGA[AT]GT-3.

Gene Wiki entry for ETV4 Gene

Additional gene information for ETV4 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ETV4 Gene

Genomics for ETV4 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for ETV4 Gene

Promoters and enhancers for ETV4 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
GH17I043543 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 574.5 +33.6 33621 4.8 PKNOX1 FOXA2 ARNT MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ETV4 ENSG00000267747 ASB16-AS1 DHX8 HMGN1P29 UBTF LINC00910 RPL27 PLEKHH3 HSD17B1
GH17I043524 Promoter/Enhancer 1.8 EPDnew ENCODE dbSUPER 591.6 +51.0 50969 7.7 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ETV4 RPL29P31 MEOX1 MIR2117HG RNU6-406P MIR2117 SOST PIR45394 GC17P043522 ENSG00000267747
GH17I043577 Enhancer 1.3 FANTOM5 Ensembl ENCODE 568.9 +0.7 671 3.1 PKNOX1 FOXA2 RB1 ZNF529 ZSCAN4 KLF17 FEZF1 KLF5 RARA GLIS2 ETV4 CCR10 ENSG00000267765 CNTNAP1 ENSG00000267002 RPL29P31 NBR2 MIR2117HG MPP2 G6PC3
GH17I043581 Enhancer 0.4 FANTOM5 550.8 -1.6 -1560 0.2 GFI1B MBD1 ETV4 ENSG00000278109 ENSG00000267747 GC17P043560
GH17I043481 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 25 +95.9 95927 3.5 MLX ZFP64 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC DHX8 ETV4 ENSG00000267340 TMUB2 HMGN1P29 RETREG3 ASB16-AS1 C17orf53 LINC00910 ENSG00000267002
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ETV4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ETV4 gene promoter:

Genomic Locations for ETV4 Gene

Genomic Locations for ETV4 Gene
chr17:43,527,843-43,579,620
(GRCh38/hg38)
Size:
51,778 bases
Orientation:
Minus strand
chr17:41,605,211-41,656,988
(GRCh37/hg19)

Genomic View for ETV4 Gene

Genes around ETV4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETV4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETV4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ETV4 Gene

Proteins for ETV4 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ETV4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43268-ETV4_HUMAN
    Recommended name:
    ETS translocation variant 4
    Protein Accession:
    P43268
    Secondary Accessions:
    • A8K314
    • B7Z5J3
    • B7Z9J6
    • Q96AW9

    Protein attributes for ETV4 Gene

    Size:
    484 amino acids
    Molecular mass:
    53938 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA95991.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ETV4 Gene

    Alternative splice isoforms for ETV4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETV4 Gene

Protein Expression for ETV4 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ETV4 Gene

  • Sumoylated; enhanced upon ERK/MAP kinase pathway activation, it positively regulates the transcriptional activator capacity. Sumoylation at Lys-96 probably requires phosphorylation at Ser-101. Transiently polysumoylated and desumoylated by SENP1. Sumoylation is a prerequisite to polyubiquitination which in turn increases proteasomal-mediated degradation. Probably polyubiquitinated by RNF4 and deubiquitinated by USP2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ETV4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ETV4 Gene

Domains & Families for ETV4 Gene

Gene Families for ETV4 Gene

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

Protein Domains for ETV4 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ETV4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P43268

UniProtKB/Swiss-Prot:

ETV4_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ETV4: view

Function for ETV4 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for ETV4 Gene

GENATLAS Biochemistry:
ETS variant gene 4,divergent member of the winged helix-turn-helix superfamily,activating matrix metalloproteinase genes,associated with invasion and metastasis of tumor cell
UniProtKB/Swiss-Prot Function:
Transcriptional activator that binds to the enhancer of the adenovirus E1A gene; the core-binding sequence is 5[AC]GGA[AT]GT-3.

Phenotypes From GWAS Catalog for ETV4 Gene

Gene Ontology (GO) - Molecular Function for ETV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IDA 14625302
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IC --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with ETV4: view
genes like me logo Genes that share phenotypes with ETV4: view

Animal Models for ETV4 Gene

MGI Knock Outs for ETV4:

Animal Model Products

miRNA for ETV4 Gene

miRTarBase miRNAs that target ETV4

Clone Products

  • Addgene plasmids for ETV4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ETV4 Gene

Localization for ETV4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETV4 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 ETV4 gene
Compartment Confidence
nucleus 5
extracellular 2
cytoskeleton 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for ETV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IDA --
genes like me logo Genes that share ontologies with ETV4: view

Pathways & Interactions for ETV4 Gene

genes like me logo Genes that share pathways with ETV4: view

Pathways by source for ETV4 Gene

1 BioSystems pathway for ETV4 Gene
1 KEGG pathway for ETV4 Gene
1 Qiagen pathway for ETV4 Gene

SIGNOR curated interactions for ETV4 Gene

Activates:

Gene Ontology (GO) - Biological Process for ETV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0030154 cell differentiation IBA --
GO:0045944 positive regulation of transcription by RNA polymerase II IDA 24983502
genes like me logo Genes that share ontologies with ETV4: view

Drugs & Compounds for ETV4 Gene

Products:

  1. Drug

(11) Drugs for ETV4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for ETV4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ETV4: view

Transcripts for ETV4 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ETV4 Gene

(7) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(154) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ETV4 Gene

Ets variant 4:
Representative Sequences:

Clone Products

  • Addgene plasmids for ETV4

Alternative Splicing Database (ASD) splice patterns (SP) for ETV4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^
SP1: - - - - - - - -
SP2: - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: - - -
SP6: -
SP7:
SP8: - - - -
SP9: - - - -
SP10: - -
SP11: - - - - -
SP12: - - -

ExUns: 15a · 15b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ETV4 Gene

GeneLoc Exon Structure for
ETV4
ECgene alternative splicing isoforms for
ETV4

Expression for ETV4 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ETV4 Gene

mRNA expression in normal human tissues for ETV4 Gene
mRNA expression by BioGPS for ETV4 GenemRNA expression by GTEx for ETV4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETV4 Gene

This gene is overexpressed in Pituitary (x5.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ETV4 Gene



NURSA nuclear receptor signaling pathways regulating expression of ETV4 Gene:

ETV4

SOURCE GeneReport for Unigene cluster for ETV4 Gene:

Hs.434059

Evidence on tissue expression from TISSUES for ETV4 Gene

  • Intestine(4.5)
  • Nervous system(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ETV4 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeleton
Regions:
Head and neck:
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
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:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ETV4: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ETV4 Gene

Orthologs for ETV4 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETV4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ETV4 33 34
  • 99.59 (n)
dog
(Canis familiaris)
 Mammalia PEA3 34
  • 94 (a)
 OneToOne
ETV4 33
  • 92.77 (n)
cow
(Bos Taurus)
 Mammalia ETV4 33 34
  • 93.46 (n)
rat
(Rattus norvegicus)
 Mammalia Etv4 33
  • 90.5 (n)
mouse
(Mus musculus)
 Mammalia Etv4 33 16 34
  • 90.34 (n)
oppossum
(Monodelphis domestica)
 Mammalia ETV4 34
  • 85 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ETV4 34
  • 59 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ETV4 34
  • 64 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ETV4 34
  • 68 (a)
 OneToOne
zebrafish
(Danio rerio)
 Actinopterygii etv4 33 34
  • 67.67 (n)
-- 33
fruit fly
(Drosophila melanogaster)
 Insecta Ets96B 34
  • 22 (a)
 OneToMany
Species where no ortholog for ETV4 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ETV4 Gene

ENSEMBL:
Gene Tree for ETV4 (if available)
TreeFam:
Gene Tree for ETV4 (if available)

Paralogs for ETV4 Gene

Paralogs for ETV4 Gene

(7) SIMAP similar genes for ETV4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with ETV4: view

Variants for ETV4 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for ETV4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000120669 -- 43,542,923(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000169011 -- 43,540,181(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000198090 -- 43,539,997(-) C/A genic_upstream_transcript_variant, intron_variant
rs1000352705 -- 43,546,194(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs1000475188 -- 43,534,585(-) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ETV4 Gene

Variant ID Type Subtype PubMed ID
esv2761959 CNV gain 21179565
esv3640625 CNV gain 21293372
esv3640630 CNV gain 21293372
nsv1060861 CNV gain 25217958
nsv1065802 CNV gain 25217958
nsv1146669 OTHER inversion 26484159
nsv2059 CNV insertion 18451855
nsv470588 CNV gain 18288195
nsv833453 CNV gain+loss 17160897

Variation tolerance for ETV4 Gene

Residual Variation Intolerance Score: 55.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.11; 51.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETV4 Gene

Human Gene Mutation Database (HGMD)
ETV4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETV4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETV4 Gene

Disorders for ETV4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for ETV4 Gene - From: HGMD, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ewing sarcoma
  • es
extraosseous ewing's sarcoma
  • extraosseous ewing sarcoma
testicular seminoma
  • seminoma of testis
epidermodysplasia verruciformis
  • ev
microphthalmia, isolated 1
  • mcop1
- elite association - COSMIC cancer census association via MalaCards
Search ETV4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ETV4

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ETV4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ETV4 Gene

Publications for ETV4 Gene

  1. Assignment of the ets-related transcription factor E1A-F gene (ETV4) to human chromosome region 17q21. (PMID: 8530053) Isobe M … Fujinaga K (Genomics 1995) 2 3 22 58
  2. Isolation of a cDNA encoding the adenovirus E1A enhancer binding protein: a new human member of the ets oncogene family. (PMID: 8441666) Higashino F … Fujinaga K (Nucleic acids research 1993) 3 4 22 58
  3. The E3 ubiquitin ligase complex component COP1 regulates PEA3 group member stability and transcriptional activity. (PMID: 20062082) Baert JL … de Launoit Y (Oncogene 2010) 3 22 58
  4. Extracellular signal-regulated kinase mitogen-activated protein kinase signaling initiates a dynamic interplay between sumoylation and ubiquitination to regulate the activity of the transcriptional activator PEA3. (PMID: 19307308) Guo B … Sharrocks AD (Molecular and cellular biology 2009) 3 4 58
  5. PEA3 activates VEGF transcription in T47D and SKBR3 breast cancer cells. (PMID: 19129951) Hua D … Jin W (Acta biochimica et biophysica Sinica 2009) 3 22 58

Products for ETV4 Gene

  • Addgene plasmids for ETV4

Sources for ETV4 Gene

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