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    ETV3 ETS variant transcription factor 3 [ Homo sapiens (human) ]

    Gene ID: 2117, updated on 27-Nov-2024

    Summary

    Official Symbol
    ETV3provided by HGNC
    Official Full Name
    ETS variant transcription factor 3provided by HGNC
    Primary source
    HGNC:HGNC:3492
    See related
    Ensembl:ENSG00000117036 MIM:164873; AllianceGenome:HGNC:3492
    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
    PE1; METS; PE-1
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in skin (RPKM 12.1), gall bladder (RPKM 6.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ETV3 in Genome Data Viewer
    Location:
    1q23.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (157121191..157138395, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (156258040..156275241, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (157090983..157108187, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:157044311-157044941 Neighboring gene keratin 8 pseudogene 45 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:157059291-157059812 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:157075101-157076062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1886 Neighboring gene ETS variant transcription factor 3 like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:157082931-157083555 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:157083556-157084181 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:157108646-157109251 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:157107959-157108294 Neighboring gene CYCS pseudogene 52 Neighboring gene Sharpr-MPRA regulatory region 11922 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:157127246-157127757 Neighboring gene Sharpr-MPRA regulatory region 527 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:157142571-157143072 Neighboring gene uncharacterized LOC107985211 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1887 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:157163574-157163806 Neighboring gene uncharacterized LOC105371456 Neighboring gene NANOG hESC enhancer GRCh37_chr1:157243171-157243713 Neighboring gene CRISPRi-validated cis-regulatory element chr1.9249 Neighboring gene long intergenic non-protein coding RNA 2772

    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
    Conduct disorder and ADHD: evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of ets variant 3 (ETV3) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ79173

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of RNA polymerase II transcription repressor complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    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
     

    General protein information

    Preferred Names
    ETS translocation variant 3
    Names
    ETS domain transcriptional repressor PE1
    ets variant gene 3, ETS family transcriptional repressor
    mitogenic Ets transcriptional suppressor

    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_001145312.3NP_001138784.1  ETS translocation variant 3 isoform 1

      See identical proteins and their annotated locations for NP_001138784.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and predicted protein isoform (1).
      Source sequence(s)
      AK316274, AL157713, BU690105
      Consensus CDS
      CCDS44250.1
      UniProtKB/Swiss-Prot
      B4E3M7, P41162, Q8TAC8, Q9BX30
      Related
      ENSP00000357175.4, ENST00000368192.9
      Conserved Domains (1) summary
      smart00413
      Location:34120
      ETS; erythroblast transformation specific domain
    2. NM_005240.3NP_005231.1  ETS translocation variant 3 isoform 2

      See identical proteins and their annotated locations for NP_005231.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents a shorter transcript, compared to transcript variant 1. The predicted protein (isoform 2) is shorter and has a distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AL157713, BC022868
      Consensus CDS
      CCDS1164.1
      UniProtKB/Swiss-Prot
      P41162
      Related
      ENSP00000327316.4, ENST00000326786.4
      Conserved Domains (1) summary
      smart00413
      Location:34120
      ETS; erythroblast transformation specific 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      157121191..157138395 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006711210.3XP_006711273.1  ETS translocation variant 3 isoform X1

      See identical proteins and their annotated locations for XP_006711273.1

      UniProtKB/Swiss-Prot
      B4E3M7, P41162, Q8TAC8, Q9BX30
      Conserved Domains (1) summary
      smart00413
      Location:34120
      ETS; erythroblast transformation specific domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      156258040..156275241 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335093.1XP_054191068.1  ETS translocation variant 3 isoform X1

      UniProtKB/Swiss-Prot
      B4E3M7, P41162, Q8TAC8, Q9BX30