ETV4 Gene (Protein Coding)

ETS Variant Transcription Factor 4

GC17M043527
GIFtS:
44
See more...

Aliases for ETV4 Gene

Aliases for ETV4 Gene

  • ETS Variant Transcription Factor 4 2 3 5
  • E1A-F 2 3 4
  • E1AF 2 3 4
  • PEA3 2 3 4
  • 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
  • ETS Translocation Variant 4 3 4
  • ETS Variant 4 2 3
  • EWS Protein/E1A Enhancer Binding Protein Chimera 3
  • E1A Enhancer Binding Protein 2
  • Protein PEA3 4
  • PEAS3 3
  • ETV4 5

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 Transcription Factor 4) is a Protein Coding gene. Diseases associated with ETV4 include Ewing Sarcoma and Testicular Seminoma. Among its related pathways are Signaling by GPCR 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 ETV1.

UniProtKB/Swiss-Prot Summary for ETV4 Gene

  • Transcriptional activator (PubMed:19307308, PubMed:31552090). May play a role in keratinocyte differentiation (PubMed:31552090).
  • (Microbial infection) Binds to the enhancer of the adenovirus E1A gene and acts as a transcriptional activator; 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 , Rfam classification and piRNA Summary for ETV4 Gene

Genomics for ETV4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ETV4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETV4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETV4

Top Transcription factor binding sites by QIAGEN in the ETV4 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • Sp1

Genomic Locations for ETV4 Gene

Latest Assembly
chr17:43,527,843-43,579,620
(GRCh38/hg38)
Size:
51,778 bases
Orientation:
Minus strand

Previous Assembly
chr17:41,605,214-41,623,708
(GRCh37/hg19 by Entrez Gene)
Size:
18,495 bases
Orientation:
Minus strand

chr17:41,605,212-41,656,988
(GRCh37/hg19 by Ensembl)
Size:
51,777 bases
Orientation:
Minus strand

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

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  3. Assay products for research

  • 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:
  • PEA3-type ETS-domain transcription factor, N-terminal

Suggested Antigen Peptide Sequences for ETV4 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55351, highly similar to ETS translocation variant 4 (B7Z5F4_HUMAN)
  • cDNA FLJ59389, highly similar to ETS translocation variant 4 (B7Z5J3_HUMAN)
  • Ets variant gene 4 (E1A enhancer binding protein, E1AF), isoform CRA_b (D3DX44_HUMAN)
  • Polyomavirus enhancer activator 3 homolog (ETV4_HUMAN)

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

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  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 ETV4 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator (PubMed:19307308, PubMed:31552090). May play a role in keratinocyte differentiation (PubMed:31552090).
UniProtKB/Swiss-Prot Function:
(Microbial infection) Binds to the enhancer of the adenovirus E1A gene and acts as a transcriptional activator; the core-binding sequence is 5'-[AC]GGA[AT]GT-3'.
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

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 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 24983502
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 Models for research

miRNA for ETV4 Gene

miRTarBase miRNAs that target ETV4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETV4

Clone products for research

  • 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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli rim (3)
  • Mitotic chromosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ETV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IDA --
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
  • ErbB2-ErbB3 Heterodimers

SIGNOR curated interactions for ETV4 Gene

Activates:

Gene Ontology (GO) - Biological Process for ETV4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0030154 cell differentiation IBA 21873635
GO:0045618 positive regulation of keratinocyte differentiation IMP 31552090
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

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(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

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mRNA/cDNA for ETV4 Gene

8 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
11 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 ETV4

Clone products for research

  • 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

Expression for ETV4 Gene

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ETV4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETV4

SOURCE GeneReport for Unigene cluster for ETV4 Gene:

Hs.434059

mRNA Expression by UniProt/SwissProt for ETV4 Gene:

P43268-ETV4_HUMAN
Tissue specificity: Expressed in keratinocytes.

Evidence on tissue expression from TISSUES for ETV4 Gene

  • Intestine(4.6)
  • Nervous system(4.5)
  • Skin(2.5)
  • Kidney(2.1)
  • Thyroid gland(2.1)

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 and Protein tissue co-expression partners 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 29 30
  • 99.59 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PEA3 30
  • 94 (a)
 OneToOne
ETV4 29
  • 92.77 (n)
Cow
(Bos Taurus)
 Mammalia ETV4 29 30
  • 93.46 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Etv4 29
  • 90.5 (n)
Mouse
(Mus musculus)
 Mammalia Etv4 29 16 30
  • 90.34 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ETV4 30
  • 85 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ETV4 30
  • 59 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ETV4 30
  • 64 (a)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ETV4 30
  • 68 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii etv4 29 30
  • 67.67 (n)
 OneToOne
-- 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Ets96B 30
  • 22 (a)
 OneToMany
Species where no ortholog for ETV4 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)
  • 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 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)
  • Worm (Caenorhabditis elegans)

Evolution for ETV4 Gene

ENSEMBL:
Gene Tree for ETV4 (if available)
TreeFam:
Gene Tree for ETV4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETV4: view image
Alliance of Genome Resources:
Additional Orthologs for ETV4

Paralogs for ETV4 Gene

Paralogs for ETV4 Gene

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

  • ETV4_HUMAN
  • B7Z5F4_HUMAN
  • D3DX44_HUMAN
  • K7EMW0_HUMAN
genes like me logo Genes that share paralogs with ETV4: view

Variants for ETV4 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETV4 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs114284282 Benign: not provided 43,533,964(-) G/C
NM_001079675.5(ETV4):c.278C>G (p.Thr93Ser) 		MISSENSE_VARIANT,INTRON
rs150119757 Benign: not provided 43,532,902(-) A/Tp.Phe195Ile
NM_001079675.5(ETV4):c.583T>A (p.Phe195Ile) 		MISSENSE_VARIANT,INTRON
rs151095895 Likely Benign: not provided 43,533,899(-) G/A
NM_001079675.5(ETV4):c.343C>T (p.Pro115Ser) 		MISSENSE_VARIANT,INTRON
rs541926936 Likely Benign: not provided 43,532,936(-) G/A
NM_001079675.5(ETV4):c.549C>T (p.Ser183=) 		SYNONYMOUS_VARIANT,INTRON
rs58471799 Likely Benign: not provided 43,528,676(-) G/A
NM_001079675.5(ETV4):c.1298C>T (p.Pro433Leu) 		MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ETV4 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 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
Leiden Open Variation Database (LOVD)
ETV4

SNP Genotyping and Copy Number Assays for research

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

Disorders for ETV4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ETV4 Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
ewing sarcoma
  • es
testicular seminoma
  • seminoma of testis
askin's tumor
  • askin tumor
extraosseous ewing sarcoma
  • extraosseous ewing's sarcoma
breast cancer
  • breast cancer, familial
- 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
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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. Genomic organization of the human e1af gene,a member of Ets transcription factors. (PMID: 10564827) Coutte L … de Launoit Y (Gene 1999) 3 4 22
  2. 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
  3. 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
  4. Single-Cell Transcriptomics Reveals Spatial and Temporal Turnover of Keratinocyte Differentiation Regulators. (PMID: 31552090) Finnegan A … Song JS (Frontiers in genetics 2019) 3 4
  5. 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

ExternalLinks

View latest publications for ETV4 gene in Mastermind

Products for ETV4 Gene

  • Addgene plasmids for ETV4

Sources for ETV4 Gene