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

    Gene ID: 2119, updated on 27-Nov-2024

    Summary

    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, Nov 2024]
    Expression
    Broad expression in brain (RPKM 25.8), adrenal (RPKM 22.0) and 23 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Potential readthrough

    Included gene: DGKG

    Gene Ontology Provided by GOA

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_004454.3NP_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:367452
      ETS; erythroblast transformation specific domain
      pfam04621
      Location:2366
      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)