Aliases for ETV5 Gene

Aliases for ETV5 Gene

  • ETS Variant Transcription Factor 5 2 3 5
  • ERM 2 3 4
  • ETS Translocation Variant 5 3 4
  • Ets-Related Protein ERM 3 4
  • Ets-Related Molecule 2 3
  • ETS Variant 5 2 3
  • Ets Variant Gene 5 (Ets-Related Molecule) 2
  • ETV5 5

External Ids for ETV5 Gene

Previous GeneCards Identifiers for ETV5 Gene

  • GC03M182555
  • GC03M187021
  • GC03M187166
  • GC03M187085
  • GC03M187246
  • GC03M185764
  • GC03M183174

Summaries for ETV5 Gene

CIViC Summary for ETV5 Gene

GeneCards Summary for ETV5 Gene

ETV5 (ETS Variant Transcription Factor 5) is a Protein Coding gene. Diseases associated with ETV5 include Neurofibromatosis, Type Ii and Sigmoid Disease. Among its related pathways are Transcriptional misregulation in cancer and Androgen receptor signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is ETV1.

UniProtKB/Swiss-Prot Summary for ETV5 Gene

  • Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETV5 Gene

Genomics for ETV5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ETV5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J186105 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +2.2 2232 5.6 BRCA1 SP1 CREB1 HNRNPL PRDM10 REST ZNF629 IKZF1 POLR2A ZNF692 ETV5 lnc-DNAJB11-12 TBCCD1 TRA2B SNORA63B RFC4 SNORA81 SNORA4 ETV5-AS1 lnc-DGKG-1
GH03J185958 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.2 +149.4 149367 4.9 CREB1 GATAD2A ATF7 ZNF629 ZNF512 ZNF692 PRDM1 RBFOX2 RXRB PATZ1 NMRAL2P lnc-SENP2-10 TRA2B ETV5 ETV5-AS1 AHSG RF00017-4201
GH03J186241 Promoter/Enhancer 1.3 Ensembl ENCODE 11.4 -132.0 -131991 1.4 HNRNPL GATAD2A CTCF TFE3 IKZF1 NFKBIZ BACH1 JUND RXRB REST ETV5 TRA2B ETV5-AS1 AHSG lnc-ETV5-2 lnc-DNAJB11-4 DGKG
GH03J186208 Enhancer 1.1 Ensembl ENCODE CraniofacialAtlas 11.1 -99.8 -99782 3.8 HNRNPL GATAD2A CTCF RFX1 LEF1 PKNOX1 MTA1 HDAC1 SOX6 RFX3 SNORA4 SNORA63B TRA2B TBCCD1 SNORA81 ETV5 ETV5-AS1 RFC4 SNORA63 lnc-DNAJB11-4
GH03J186044 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.2 +65.2 65199 1.8 GATAD2A SOX13 RXRB TCF7 FOXA2 TEAD1 RBM22 NCOR1 FOXP1 SAP130 ETV5-AS1 ETV5 HRG piR-31508-039 piR-31109-003 TRA2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ETV5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETV5

Top Transcription factor binding sites by QIAGEN in the ETV5 gene promoter:
  • AML1a

Genomic Locations for ETV5 Gene

Genomic Locations for ETV5 Gene
64,005 bases
Minus strand
64,011 bases
Minus strand

Genomic View for ETV5 Gene

Genes around ETV5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETV5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETV5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETV5 Gene

Proteins for ETV5 Gene

  • Protein details for ETV5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ETS translocation variant 5
    Protein Accession:
    Secondary Accessions:
    • A6NH46
    • B7Z7D7
    • Q6IBN5

    Protein attributes for ETV5 Gene

    510 amino acids
    Molecular mass:
    57838 Da
    Quaternary structure:
    • Interacts (via C-terminal) with ZMYM5 (via N-terminal 120 amino acid region).

    Three dimensional structures from OCA and Proteopedia for ETV5 Gene

    Alternative splice isoforms for ETV5 Gene


neXtProt entry for ETV5 Gene

Post-translational modifications for ETV5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ETV5 Gene

No data available for DME Specific Peptides for ETV5 Gene

Domains & Families for ETV5 Gene

Gene Families for ETV5 Gene

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

Protein Domains for ETV5 Gene

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

Suggested Antigen Peptide Sequences for ETV5 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56169, highly similar to ETS translocation variant 5 (B7Z7D7_HUMAN)
  • Ets-related protein ERM (ETV5_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ETS family.
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ETV5: view

Function for ETV5 Gene

Molecular function for ETV5 Gene

UniProtKB/Swiss-Prot Function:
Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'.
GENATLAS Biochemistry:
ETS variant 5,transcription factor of the ETS family,divergent member of the winged helix-turn-helix superfamily,expressed in brain,placenta and other tissues involved in development

Phenotypes From GWAS Catalog for ETV5 Gene

Gene Ontology (GO) - Molecular Function for ETV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 19443906
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IMP 15857832
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IMP 15857832
GO:0003677 DNA binding TAS 8152800
genes like me logo Genes that share ontologies with ETV5: view
genes like me logo Genes that share phenotypes with ETV5: view

Animal Models for ETV5 Gene

MGI Knock Outs for ETV5:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETV5

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ETV5 Gene

Localization for ETV5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETV5 Gene

Subcellular locations from

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 ETV5 gene
Compartment Confidence
nucleus 5
plasma membrane 3
extracellular 2
cytoskeleton 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ETV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA,IDA 19443906
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IEA --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with ETV5: view

Pathways & Interactions for ETV5 Gene

genes like me logo Genes that share pathways with ETV5: view

Pathways by source for ETV5 Gene

1 GeneGo (Thomson Reuters) pathway for ETV5 Gene
  • Immune response IL-12-induced IFN-gamma production

SIGNOR curated interactions for ETV5 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ETV5 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:0007274 neuromuscular synaptic transmission IEA --
GO:0007626 locomotory behavior IEA --
GO:0030154 cell differentiation IBA 21873635
genes like me logo Genes that share ontologies with ETV5: view

Drugs & Compounds for ETV5 Gene

(2) Drugs for ETV5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ETV5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ETV5: view

Transcripts for ETV5 Gene

mRNA/cDNA for ETV5 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETV5

Alternative Splicing Database (ASD) splice patterns (SP) for ETV5 Gene

No ASD Table

Relevant External Links for ETV5 Gene

GeneLoc Exon Structure for

Expression for ETV5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ETV5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETV5

SOURCE GeneReport for Unigene cluster for ETV5 Gene:


mRNA Expression by UniProt/SwissProt for ETV5 Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ETV5 Gene

  • Skin(4.8)
  • Nervous system(4.5)
  • Muscle(3)
  • Lung(3)
  • Heart(2.8)
  • Blood(2.8)
  • Kidney(2.7)
  • Intestine(2.7)
  • Liver(2.5)
  • Spleen(2.3)
  • Thyroid gland(2.2)
  • Stomach(2.2)
  • Pancreas(2.1)
  • Adrenal gland(2.1)
genes like me logo Genes that share expression patterns with ETV5: view

No data available for mRNA differential expression in normal tissues , 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 ETV5 Gene

Orthologs for ETV5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETV5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ETV5 30 31
  • 99.41 (n)
(Bos Taurus)
Mammalia ETV5 30 31
  • 93.71 (n)
(Canis familiaris)
Mammalia ETV5 30 31
  • 93.27 (n)
(Mus musculus)
Mammalia Etv5 30 17 31
  • 90.07 (n)
(Rattus norvegicus)
Mammalia Etv5 30
  • 89.74 (n)
(Monodelphis domestica)
Mammalia ETV5 31
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia ETV5 31
  • 74 (a)
(Gallus gallus)
Aves ETV5 30 31
  • 78.59 (n)
(Anolis carolinensis)
Reptilia ETV5 31
  • 84 (a)
(Danio rerio)
Actinopterygii etv5a 30 31
  • 65.71 (n)
etv5b 31
  • 60 (a)
Dr.11545 30
Fruit Fly
(Drosophila melanogaster)
Insecta Ets96B 31 32
  • 23 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 20 (a)
Species where no ortholog for ETV5 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 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 ETV5 Gene

Gene Tree for ETV5 (if available)
Gene Tree for ETV5 (if available)
Evolutionary constrained regions (ECRs) for ETV5: view image

Paralogs for ETV5 Gene

(7) SIMAP similar genes for ETV5 Gene using alignment to 7 proteins:

  • B7Z7D7_HUMAN
  • C9J0Z2_HUMAN
  • C9J5A5_HUMAN
  • C9JR66_HUMAN
  • H7C1D2_HUMAN
genes like me logo Genes that share paralogs with ETV5: view

Variants for ETV5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETV5 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
780903 Benign: not provided 186,080,022(-) G/C MISSENSE_VARIANT
785072 Benign: not provided 186,048,726(-) C/T SYNONYMOUS_VARIANT
785073 Benign: not provided 186,048,773(-) G/A SYNONYMOUS_VARIANT
785074 Benign: not provided 186,048,777(-) C/T SYNONYMOUS_VARIANT
rs2228269 - p.Lys348Arg

Additional dbSNP identifiers (rs#s) for ETV5 Gene

Structural Variations from Database of Genomic Variants (DGV) for ETV5 Gene

Variant ID Type Subtype PubMed ID
esv2665875 CNV deletion 23128226
esv2726328 CNV deletion 23290073
esv3563025 CNV deletion 23714750
esv3598983 CNV loss 21293372
nsv1135923 CNV deletion 24896259

Variation tolerance for ETV5 Gene

Residual Variation Intolerance Score: 31.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.40% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETV5 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ETV5 Gene

Disorders for ETV5 Gene

MalaCards: The human disease database

(17) MalaCards diseases for ETV5 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
neurofibromatosis, type ii
  • nf2
sigmoid disease
  • sigmoid diseases
endocardium disease
  • abnormality of the endocardium
salivary gland carcinoma
  • salivary gland cancer
beta-lactam allergy
- elite association - COSMIC cancer census association via MalaCards
Search ETV5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ETV5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ETV5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ETV5 Gene

Publications for ETV5 Gene

  1. Molecular cloning and characterization of human ERM, a new member of the Ets family closely related to mouse PEA3 and ER81 transcription factors. (PMID: 8152800) Monté D … Stéhelin D (Oncogene 1994) 2 3 4 23
  2. Genomic organization of the human ERM (ETV5) gene, a PEA3 group member of ETS transcription factors. (PMID: 8661127) Monté D … de Launoit Y (Genomics 1996) 3 4 23
  3. Genetic markers of adult obesity risk are associated with greater early infancy weight gain and growth. (PMID: 20520848) Elks CE … Ong KK (PLoS medicine 2010) 3 41
  4. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 41
  5. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 41

Products for ETV5 Gene

Sources for ETV5 Gene