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    ETV5 ETS variant transcription factor 5 [ Homo sapiens (human) ]

    Gene ID: 2119, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ETV5provided by HGNC
    Official Full Name
    ETS variant transcription factor 5provided by HGNC
    Primary source
    HGNC:HGNC:3494
    See related
    Ensembl:ENSG00000244405 MIM:601600; AllianceGenome:HGNC:3494
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ERM
    Summary
    Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in brain (RPKM 25.8), adrenal (RPKM 22.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ETV5 in Genome Data Viewer
    Location:
    3q27.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (186046314..186109089, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (188862123..188924868, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (185764103..185826878, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:185655136-185655863 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:185666824-185667766 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:185667767-185668709 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:185670624-185671147 Neighboring gene transformer 2 beta homolog Neighboring gene Sharpr-MPRA regulatory region 2251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:185701333-185701854 Neighboring gene NmrA like redox sensor 2, pseudogene Neighboring gene uncharacterized LOC124909470 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:185795356-185795551 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:185815375-185815888 Neighboring gene ETV5 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20931 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr3:185826419-185827397 Neighboring gene uncharacterized LOC105374257 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:185911899-185912696 Neighboring gene diacylglycerol kinase gamma Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:185927717-185928344 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr3:185933195-185933911 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:185939275-185940188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20935 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20936 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14982 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:185986639-185986811 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:186078791-186079308

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. ERM, a PEA3 subfamily of Ets transcription factors, can cooperate with c-Jun. Nakae K, et al. J Biol Chem, 1995 Oct 6. PMID 7559555
    2. Identification of Ezrin-Radixin-Moesin proteins as novel regulators of pathogenic B-cell receptor signaling and tumor growth in diffuse large B-cell lymphoma. Pore D, et al. Leukemia, 2015 Sep. PMID 25801911, Free PMC Article
    3. ETS variant 5 promotes colorectal cancer angiogenesis by targeting platelet-derived growth factor BB. Cheng X, et al. Int J Cancer, 2019 Jul 1. PMID 30650178
    4. ETV5 links the FGFR3 and Hippo signalling pathways in bladder cancer. di Martino E, et al. Sci Rep, 2019 Apr 5. PMID 30952872, Free PMC Article
    5. ETS Factor ETV5 Activates the Mutant Telomerase Reverse Transcriptase Promoter in Thyroid Cancer. Bullock M, et al. Thyroid, 2019 Nov. PMID 31452441

    See all (100) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ETV5 facilitates tumor progression in head-neck squamous cell carcinoma.
      Title: ETV5 facilitates tumor progression in head-neck squamous cell carcinoma.
    2. ETV5 promotes lupus pathogenesis and follicular helper T cell differentiation by inducing osteopontin expression.
      Title: ETV5 promotes lupus pathogenesis and follicular helper T cell differentiation by inducing osteopontin expression.
    3. YTHDF2 Is a Therapeutic Target for HCC by Suppressing Immune Evasion and Angiogenesis Through ETV5/PD-L1/VEGFA Axis.
      Title: YTHDF2 Is a Therapeutic Target for HCC by Suppressing Immune Evasion and Angiogenesis Through ETV5/PD-L1/VEGFA Axis.
    4. ETV5 transcriptionally activates TGFbeta1 and promotes cancer cell invasion and migration of NSCLC.
      Title: ETV5 transcriptionally activates TGFβ1 and promotes cancer cell invasion and migration of NSCLC.
    5. E26 transformation-specific transcription variant 5 in development and cancer: modification, regulation and function.
      Title: E26 transformation-specific transcription variant 5 in development and cancer: modification, regulation and function.
    6. ETV5 overexpression promotes progression of esophageal squamous cell carcinoma by upregulating SKA1 and TRPV2.
      Title: ETV5 overexpression promotes progression of esophageal squamous cell carcinoma by upregulating SKA1 and TRPV2.
    7. Human Islet MicroRNA-200c Is Elevated in Type 2 Diabetes and Targets the Transcription Factor ETV5 to Reduce Insulin Secretion.
      Title: Human Islet MicroRNA-200c Is Elevated in Type 2 Diabetes and Targets the Transcription Factor ETV5 to Reduce Insulin Secretion.
    8. Chromatin accessibility analysis identifies the transcription factor ETV5 as a suppressor of adipose tissue macrophage activation in obesity.
      Title: Chromatin accessibility analysis identifies the transcription factor ETV5 as a suppressor of adipose tissue macrophage activation in obesity.
    9. Biological and prognostic value of ETV5 in high-grade serous ovarian cancer.
      Title: Biological and prognostic value of ETV5 in high-grade serous ovarian cancer.
    10. The role of E26 transformation-specific variant transcription factor 5 in colorectal cancer cell proliferation and cell cycle progression.
      Title: The role of E26 transformation-specific variant transcription factor 5 in colorectal cancer cell proliferation and cell cycle progression.
    Submit: New GeneRIF Correction See all GeneRIFs (51)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
    EBI GWAS Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog
    Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Microarray analysis indicates HIV-1 Tat-induced downregulation of ets variant 5 (ETV5) in primary human brain microvascular endothelial cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: DGKG

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to oxidative stress IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in male germ-line stem cell asymmetric division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of neuron differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ETS translocation variant 5
    Names
    ets-related molecule
    ets-related protein ERM

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_004454.3 → NP_004445.1  ETS translocation variant 5

      See identical proteins and their annotated locations for NP_004445.1

      Status: VALIDATED

      Source sequence(s)
      AC108671, AC112649, AC131156
      Consensus CDS
      CCDS33906.1
      UniProtKB/Swiss-Prot
      A6NH46, B7Z7D7, P41161, Q6IBN5
      Related
      ENSP00000306894.5, ENST00000306376.10
      Conserved Domains (2) summary
      smart00413
      Location:367 → 452
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:2 → 366
      ETS_PEA3_N; PEA3 subfamily ETS-domain transcription factor N terminal domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      186046314..186109089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      188862123..188924868 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P41161.1 GenPept UniProtKB/Swiss-Prot:P41161

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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