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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

CIViC summary for ETV5 Gene

GeneCards Summary for ETV5 Gene

ETV5 (ETS Variant 5) is a Protein Coding gene. Diseases associated with ETV5 include Neurofibromatosis, Type Ii and Endometrial Cancer. Among its related pathways are FOXM1 transcription factor network and IL12 signaling mediated by STAT4. 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 for ETV5 Gene

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

Additional gene information for ETV5 Gene

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

GeneHancer (GH) Regulatory Elements for ETV5 Gene

Promoters and enhancers for ETV5 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
GH03I186105 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 550.8 +2.2 2232 5.6 PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B FOS ETV5 TBCCD1 TRA2B ENSG00000200418 RFC4 SNORA81 SNORA4 ETV5-AS1 DGKG
GH03I186241 Enhancer 1.2 Ensembl ENCODE 11.4 -132.0 -131992 1.4 ATF1 MLX ARID4B SIN3A DMAP1 IRF4 SLC30A9 ZNF143 FOS ATF7 ETV5 TRA2B ETV5-AS1 AHSG GC03P186167 DGKG
GH03I185958 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.2 +150.2 150167 3.3 ATF1 ARID4B FEZF1 ATF7 DEK REST TSHZ1 NFIL3 ATF4 MAFF NMRAL2P TRA2B ETV5 ETV5-AS1 AHSG GC03M185982
GH03I186044 Enhancer 1 ENCODE dbSUPER 11.2 +65.3 65293 1.6 ELF3 SOX13 TFAP4 FOXA2 SAP130 TAL1 THRB RARA TEAD3 TCF12 ETV5-AS1 ETV5 HRG ENSG00000277118 GC03P186008
GH03I186208 Enhancer 1 Ensembl ENCODE 11.1 -100.0 -99983 2.8 HDAC1 ELF3 PKNOX1 THRB ZNF48 RARA RUNX3 SP5 USF2 ELF1 SNORA4 ENSG00000200418 TRA2B TBCCD1 SNORA81 ETV5 ETV5-AS1 RFC4 SNORA63 GC03P186167
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ETV5 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for ETV5 Gene

Genomic Locations for ETV5 Gene
chr3:186,046,308-186,110,318
(GRCh38/hg38)
Size:
64,011 bases
Orientation:
Minus strand
chr3:185,764,097-185,828,107
(GRCh37/hg19)

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

No Post-translational modifications

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

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

Suggested Antigen Peptide Sequences for ETV5 Gene

Graphical View of Domain Structure for InterPro Entry

P41161

UniProtKB/Swiss-Prot:

ETV5_HUMAN :
  • Belongs to the ETS family.
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.

Phenotypes From GWAS Catalog for ETV5 Gene

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 DNA binding IMP 15857832
GO:0003677 DNA binding TAS 8152800
GO:0003700 DNA binding transcription factor activity IDA,IEA 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

Clone Products

  • Addgene plasmids 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

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 ETV5 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 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:0005634 nucleus IDA,IEA 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 by RNA polymerase II 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:

Clone Products

  • Addgene plasmids 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
ETV5
ECgene alternative splicing isoforms for
ETV5

Expression for ETV5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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.

Evidence on tissue expression from TISSUES for ETV5 Gene

  • Skin(4.7)
  • Nervous system(4.3)
  • Muscle(2.5)
  • Lung(2.3)
  • Kidney(2)
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
chimpanzee
(Pan troglodytes)
Mammalia ETV5 33 34
  • 99.41 (n)
cow
(Bos Taurus)
Mammalia ETV5 33 34
  • 93.71 (n)
dog
(Canis familiaris)
Mammalia ETV5 33 34
  • 93.27 (n)
mouse
(Mus musculus)
Mammalia Etv5 33 16 34
  • 90.07 (n)
rat
(Rattus norvegicus)
Mammalia Etv5 33
  • 89.74 (n)
oppossum
(Monodelphis domestica)
Mammalia ETV5 34
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ETV5 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves ETV5 33 34
  • 78.59 (n)
lizard
(Anolis carolinensis)
Reptilia ETV5 34
  • 84 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii etv5a 33 34
  • 65.71 (n)
etv5b 34
  • 60 (a)
OneToMany
Dr.11545 33
fruit fly
(Drosophila melanogaster)
Insecta Ets96B 35 34
  • 87 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000004413 -- 186,104,234(-) G/A intron_variant
rs1000041095 -- 186,059,331(-) G/A intron_variant
rs1000067721 -- 186,066,367(-) T/A intron_variant
rs1000086505 -- 186,071,624(-) C/T intron_variant
rs1000230910 -- 186,080,969(-) G/C intron_variant

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

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

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)
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

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

Disorder Aliases PubMed IDs
neurofibromatosis, type ii
  • nf2
endometrial cancer
  • endometrial cancer, familial
prostate cancer
  • prostate cancer, susceptibility to
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 22 58
  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 22 58
  3. 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 44 58
  4. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PMID: 20935630) Speliotes EK … Loos RJ (Nature genetics 2010) 3 44 58
  5. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PMID: 21102462) Elks CE … Murray A (Nature genetics 2010) 3 44 58

Products for ETV5 Gene

Sources for ETV5 Gene

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