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Aliases for ETV5 Gene

Aliases for ETV5 Gene

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

External Ids for ETV5 Gene

Previous GeneCards Identifiers for ETV5 Gene

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

Summaries for ETV5 Gene

GeneCards Summary for ETV5 Gene

ETV5 (ETS Variant 5) is a Protein Coding gene. Diseases associated with ETV5 include Sertoli Cell-Only Syndrome. Among its related pathways are Transcriptional misregulation in cancer and IL12-mediated signaling events. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription regulatory region DNA binding. An important paralog of this gene is ETV1.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for ETV5 Gene

Genomics for ETV5 Gene

Regulatory Elements for ETV5 Gene

Enhancers for ETV5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F186150 0.9 Ensembl ENCODE 12.3 -42.0 -42046 3.5 MTA2 ZBED1 CBFB JUNB TBX21 EP300 GABPA EED IKZF1 NBN ETV5 ETV5-AS1 GC03P186150 GC03P186167
GH03F186200 0.2 ENCODE 12 -90.6 -90636 1.5 ZNF263 ETV5 ETV5-AS1 GC03P186167 DGKG
GH03F186194 0.2 ENCODE 11.6 -84.0 -83959 0.2 OSR2 PAF1 POLR2A POU5F1 KDM1A ZNF600 EZH2 ETV5 ETV5-AS1 GC03P186167 DGKG
GH03F186053 0.9 ENCODE 11.5 +55.7 55678 2.2 RFX1 POLR2A FEZF1 FOXP2 ETV5-AS1 ETV5 ENSG00000277118 GC03P186008
GH03F186239 1.1 ENCODE 11.4 -129.1 -129139 0.1 CTCF RFX1 MAX HMBOX1 BMI1 RAD21 ETV5 TRA2B ETV5-AS1 AHSG GC03P186167 DGKG
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ETV5 on UCSC Golden Path with GeneCards custom track

Promoters for ETV5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001681825 1518 3201 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 FOS CEBPZ

Genomic Location for ETV5 Gene

Chromosome:
3
Start:
186,046,308 bp from pter
End:
186,110,318 bp from pter
Size:
64,011 bases
Orientation:
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:
    P41161-ETV5_HUMAN
    Recommended name:
    ETS translocation variant 5
    Protein Accession:
    P41161
    Secondary Accessions:
    • A6NH46
    • B7Z7D7
    • Q6IBN5

    Protein attributes for ETV5 Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

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

Antibody Products

No data available for DME Specific Peptides for ETV5 Gene

Domains & Families for ETV5 Gene

Gene Families for ETV5 Gene

Suggested Antigen Peptide Sequences for ETV5 Gene

Graphical View of Domain Structure for InterPro Entry

P41161

UniProtKB/Swiss-Prot:

ETV5_HUMAN :
  • Contains 1 ETS DNA-binding domain.
  • Belongs to the ETS family.
Domain:
  • Contains 1 ETS DNA-binding domain.
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

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
UniProtKB/Swiss-Prot Function:
Binds to DNA sequences containing the consensus nucleotide core sequence 5-GGAA.-3.

Gene Ontology (GO) - Molecular Function for ETV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IMP 15857832
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding IMP 15857832
GO:0003677 DNA binding TAS 8152800
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA,IDA 19443906
GO:0005515 protein binding IPI 17126306
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

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ETV5

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for ETV5 Gene COMPARTMENTS Subcellular localization image for ETV5 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ETV5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 19443906
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane 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

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:0006366 transcription from RNA polymerase II promoter IEA --
GO:0007274 neuromuscular synaptic transmission IEA --
GO:0007626 locomotory behavior IEA --
GO:0030154 cell differentiation IBA --
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

Unigene Clusters for ETV5 Gene

Ets variant 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ETV5

Flow Cytometry Products

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

No ASD Table

Relevant External Links for ETV5 Gene

GeneLoc Exon Structure for
ETV5
ECgene alternative splicing isoforms for
ETV5

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

NURSA nuclear receptor signaling pathways regulating expression of ETV5 Gene:

ETV5

SOURCE GeneReport for Unigene cluster for ETV5 Gene:

Hs.43697

mRNA Expression by UniProt/SwissProt for ETV5 Gene:

P41161-ETV5_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with ETV5: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners 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
chimpanzee
(Pan troglodytes)
Mammalia ETV5 34 35
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia ETV5 34 35
  • 93.71 (n)
dog
(Canis familiaris)
Mammalia ETV5 34 35
  • 93.27 (n)
mouse
(Mus musculus)
Mammalia Etv5 34 16 35
  • 90.07 (n)
rat
(Rattus norvegicus)
Mammalia Etv5 34
  • 89.74 (n)
oppossum
(Monodelphis domestica)
Mammalia ETV5 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETV5 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETV5 34 35
  • 78.59 (n)
lizard
(Anolis carolinensis)
Reptilia ETV5 35
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii etv5a 34 35
  • 65.71 (n)
etv5b 35
  • 60 (a)
OneToMany
Dr.11545 34
fruit fly
(Drosophila melanogaster)
Insecta Ets96B 36 35
  • 87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
ManyToMany
Species where no ortholog for ETV5 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 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

ENSEMBL:
Gene Tree for ETV5 (if available)
TreeFam:
Gene Tree for ETV5 (if available)

Paralogs for ETV5 Gene

Paralogs for ETV5 Gene

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

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

Variants for ETV5 Gene

Sequence variations from dbSNP and Humsavar for ETV5 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10513801 -- 186,104,564(+) ACTAT(G/T)TTCTG intron-variant
rs10534124 -- 186,103,621(+) TGCAA(-/ACACACACAC)ACACA intron-variant
rs10650094 -- 186,099,285(+) CAATG(-/ATAGA)ATAGA intron-variant
rs10681607 -- 186,066,272(+) AAAAA(-/AAAAAAAAAA)AAAAA intron-variant
rs10937240 -- 186,085,034(+) TTTCA(C/T)TCAAT intron-variant

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)

Relevant External Links for ETV5 Gene

Human Gene Mutation Database (HGMD)
ETV5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETV5

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

Disorders for ETV5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ETV5 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sertoli cell-only syndrome
  • del castillo syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ETV5 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ETV5

Genetic Association Database (GAD)
ETV5
Human Genome Epidemiology (HuGE) Navigator
ETV5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ETV5
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) Monte D. … Stehelin D. (Oncogene 1994) 2 3 4 22 64
  2. Genomic organization of the human ERM (ETV5) gene, a PEA3 group member of ETS transcription factors. (PMID: 8661127) Monte D. … de Launoit Y. (Genomics 1996) 3 4 22 64
  3. Are recently identified genetic variants regulating BMI in the general population associated with anorexia nervosa? (PMID: 19746409) Brandys M.K. … Adan R.A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  4. Cumulative effects and predictive value of common obesity-susceptibility variants identified by genome-wide association studies. (PMID: 19812171) Li S. … Loos R.J. (Am. J. Clin. Nutr. 2010) 3 46 64
  5. Implication of genetic variants near NEGR1, SEC16B, TMEM18, ETV5/DGKG, GNPDA2, LIN7C/BDNF, MTCH2, BCDIN3D/FAIM2, SH2B1, FTO, MC4R, and KCTD15 with obesity and type 2 diabetes in 7705 Chinese. (PMID: 20215397) Ng M.C. … Ma R.C. (J. Clin. Endocrinol. Metab. 2010) 3 46 64

Products for ETV5 Gene

Sources for ETV5 Gene

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