Aliases for ETV2 Gene

Aliases for ETV2 Gene

  • ETS Variant Transcription Factor 2 2 3 5
  • ER71 2 3 4
  • ETS Translocation Variant 2 3 4
  • Ets-Related Protein 71 3 4
  • Ets Variant Gene 2 2 3
  • ETS Variant 2 2 3
  • ETSRP71 3 4
  • ETV2 5

External Ids for ETV2 Gene

Previous GeneCards Identifiers for ETV2 Gene

  • GC19U990034
  • GC19P036581
  • GC19P040809
  • GC19P040825
  • GC19P036132
  • GC19P032637
  • GC19P035695
  • GC19P035819
  • GC19P037016
  • GC19P037185
  • GC19P037281
  • GC19P037716
  • GC19P035843
  • GC19P035998
  • GC19P036165
  • GC19P036235
  • GC19P036407
  • GC19P036567
  • GC19P036736
  • GC19P036882

Summaries for ETV2 Gene

GeneCards Summary for ETV2 Gene

ETV2 (ETS Variant Transcription Factor 2) is a Protein Coding gene. 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 ETS1.

UniProtKB/Swiss-Prot Summary for ETV2 Gene

  • Binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'.

Additional gene information for ETV2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ETV2 Gene

Genomics for ETV2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ETV2 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 ETV2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ETV2

Top Transcription factor binding sites by QIAGEN in the ETV2 gene promoter:
  • c-Ets-1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • GATA-2
  • HTF
  • RelA

Genomic Locations for ETV2 Gene

Genomic Locations for ETV2 Gene
chr19:35,641,175-35,644,871
(GRCh38/hg38)
Size:
3,697 bases
Orientation:
Plus strand
chr19:36,132,647-36,135,773
(GRCh37/hg19)
Size:
3,127 bases
Orientation:
Plus strand

Genomic View for ETV2 Gene

Genes around ETV2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ETV2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ETV2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ETV2 Gene

Proteins for ETV2 Gene

  • Protein details for ETV2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00321-ETV2_HUMAN
    Recommended name:
    ETS translocation variant 2
    Protein Accession:
    O00321
    Secondary Accessions:
    • A6NFN5
    • B3KUL0
    • B9EIN1
    • Q9UEA0

    Protein attributes for ETV2 Gene

    Size:
    342 amino acids
    Molecular mass:
    36633 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB57630.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for ETV2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ETV2 Gene

Post-translational modifications for ETV2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ETV2 Gene

Domains & Families for ETV2 Gene

Gene Families for ETV2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ETV2 Gene

Suggested Antigen Peptide Sequences for ETV2 Gene

GenScript: Design optimal peptide antigens:
  • ETV2 protein (B7ZMD4_HUMAN)
  • ETV2 protein (B9EIN1_HUMAN)
  • Ets-related protein 71 (ETV2_HUMAN)
  • ETV2 protein (Q3KNT3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00321

UniProtKB/Swiss-Prot:

ETV2_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ETV2: view

Function for ETV2 Gene

Molecular function for ETV2 Gene

UniProtKB/Swiss-Prot Function:
Binds to DNA sequences containing the consensus pentanucleotide 5'-CGGA[AT]-3'.

Phenotypes From GWAS Catalog for ETV2 Gene

Gene Ontology (GO) - Molecular Function for ETV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with ETV2: view
genes like me logo Genes that share phenotypes with ETV2: view

Animal Models for ETV2 Gene

MGI Knock Outs for ETV2:
  • Etv2 Etv2<tm1Dlim>
  • Etv2 Etv2<tm1.1Nshk>

Animal Model Products

CRISPR Products

Targeted motifs for ETV2 Gene
HOMER Transcription Factor Regulatory Elements motif ETV2
  • Consensus sequence: NNAYTTCCTGHN Submotif: canonical Cell Type: ES GEO ID: GSE59402

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ETV2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA and Transcription Factor Targets for ETV2 Gene

Localization for ETV2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ETV2 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 ETV2 gene
Compartment Confidence
nucleus 5
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ETV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
genes like me logo Genes that share ontologies with ETV2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ETV2 Gene

Pathways & Interactions for ETV2 Gene

PathCards logo

SuperPathways for ETV2 Gene

No Data Available

SIGNOR curated interactions for ETV2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for ETV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0001707 mesoderm formation IEA --
GO:0001824 blastocyst development IEA --
GO:0001890 placenta development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with ETV2: view

No data available for Pathways by source for ETV2 Gene

Drugs & Compounds for ETV2 Gene

No Compound Related Data Available

Transcripts for ETV2 Gene

mRNA/cDNA for ETV2 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 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 ETV2

Alternative Splicing Database (ASD) splice patterns (SP) for ETV2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c
SP1: -
SP2:
SP3: - - - - -
SP4:
SP5:
SP6:

Relevant External Links for ETV2 Gene

GeneLoc Exon Structure for
ETV2

Expression for ETV2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ETV2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ETV2 Gene

This gene is overexpressed in Testis (x18.9).

Protein differential expression in normal tissues from HIPED for ETV2 Gene

This gene is overexpressed in Platelet (68.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ETV2 Gene



Protein tissue co-expression partners for ETV2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ETV2

SOURCE GeneReport for Unigene cluster for ETV2 Gene:

Hs.194061

Evidence on tissue expression from TISSUES for ETV2 Gene

  • Heart(2.5)
genes like me logo Genes that share expression patterns with ETV2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ETV2 Gene

Orthologs for ETV2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ETV2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ETV2 30 31
  • 97.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ETV2 30 31
  • 81.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ETV2 30 31
  • 80.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Etv2 30
  • 78.08 (n)
Mouse
(Mus musculus)
Mammalia Etv2 30 17 31
  • 77.38 (n)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii fli1b 31
  • 16 (a)
ManyToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Ets65A 31
  • 16 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea ets-5 31
  • 26 (a)
ManyToMany
ast-1 31
  • 19 (a)
ManyToMany
Species where no ortholog for ETV2 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • 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)

Evolution for ETV2 Gene

ENSEMBL:
Gene Tree for ETV2 (if available)
TreeFam:
Gene Tree for ETV2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ETV2: view image

Paralogs for ETV2 Gene

(12) SIMAP similar genes for ETV2 Gene using alignment to 7 proteins:

  • ETV2_HUMAN
  • A6NFN5_HUMAN
  • B7ZMD4_HUMAN
  • K7ERX2_HUMAN
  • Q3KNT2_HUMAN
  • Q3KNT3_HUMAN
  • S4R454_HUMAN
genes like me logo Genes that share paralogs with ETV2: view

Variants for ETV2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ETV2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs2285419 - p.Asp90Asn

Additional dbSNP identifiers (rs#s) for ETV2 Gene

Variation tolerance for ETV2 Gene

Residual Variation Intolerance Score: 81.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.84; 73.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ETV2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ETV2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ETV2 Gene

Disorders for ETV2 Gene

No disorders were found for ETV2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ETV2 Gene

Publications for ETV2 Gene

  1. Interplay among Etsrp/ER71, Scl, and Alk8 signaling controls endothelial and myeloid cell formation. (PMID: 18270322) Sumanas S … Lin S (Blood 2008) 3 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4
  4. Specificities of protein-protein and protein-DNA interaction of GABP alpha and two newly defined ets-related proteins. (PMID: 1340465) Brown TA … McKnight SL (Genes & development 1992) 2 3
  5. Transcriptional control of blood cell emergence. (PMID: 31432499) Menegatti S … Kouskoff V (FEBS letters 2019) 3

Products for ETV2 Gene

Sources for ETV2 Gene