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    ETS2 ETS proto-oncogene 2, transcription factor [ Homo sapiens (human) ]

    Gene ID: 2114, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ETS2provided by HGNC
    Official Full Name
    ETS proto-oncogene 2, transcription factorprovided by HGNC
    Primary source
    HGNC:HGNC:3489
    See related
    Ensembl:ENSG00000157557 MIM:164740; AllianceGenome:HGNC:3489
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ETS2IT1
    Summary
    This gene encodes a transcription factor which regulates genes involved in development and apoptosis. The encoded protein is also a protooncogene and shown to be involved in regulation of telomerase. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
    Expression
    Ubiquitous expression in spleen (RPKM 50.4), small intestine (RPKM 39.5) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ETS2 in Genome Data Viewer
    Location:
    21q22.2
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (38805183..38824955)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (37188973..37208712)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (40177107..40196879)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18458 Neighboring gene uncharacterized LOC107985480 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:40159061-40160260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:40176652-40177152 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13316 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:40182837-40184036 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:40185951-40187150 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:40194325-40194862 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:40203265-40204464 Neighboring gene uncharacterized LOC101928398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13317 Neighboring gene ETS2 antisense RNA 1 Neighboring gene ribosomal protein SA pseudogene 64

    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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. NNMT switches the proangiogenic phenotype of cancer-associated fibroblasts via epigenetically regulating ETS2/VEGFA axis.
      Title: NNMT switches the proangiogenic phenotype of cancer-associated fibroblasts via epigenetically regulating ETS2/VEGFA axis.
    2. ID2-ETS2 axis regulates the transcriptional acquisition of pro-tumoral microglia phenotype in glioma.
      Title: ID2-ETS2 axis regulates the transcriptional acquisition of pro-tumoral microglia phenotype in glioma.
    3. A disease-associated gene desert directs macrophage inflammation through ETS2.
      Title: A disease-associated gene desert directs macrophage inflammation through ETS2.
    4. USP39-Mediated Non-Proteolytic Control of ETS2 Suppresses Nuclear Localization and Activity.
      Title: USP39-Mediated Non-Proteolytic Control of ETS2 Suppresses Nuclear Localization and Activity.
    5. ETS2 promotes cardiomyocyte apoptosis and autophagy in heart failure by regulating lncRNA TUG1/miR-129-5p/ATG7 axis.
      Title: ETS2 promotes cardiomyocyte apoptosis and autophagy in heart failure by regulating lncRNA TUG1/miR-129-5p/ATG7 axis.
    6. ETS2 alleviates acute-on-chronic liver failure by suppressing excessive inflammation.
      Title: ETS2 alleviates acute-on-chronic liver failure by suppressing excessive inflammation.
    7. Suppression of USP7 negatively regulates the stability of ETS proto-oncogene 2 protein.
      Title: Suppression of USP7 negatively regulates the stability of ETS proto-oncogene 2 protein.
    8. A novel tissue specific alternative splicing variant mitigates phenotypes in Ets2 frame-shift mutant models.
      Title: A novel tissue specific alternative splicing variant mitigates phenotypes in Ets2 frame-shift mutant models.
    9. Codon Optimization, Cloning, Expression, Purification, and Secondary Structure Determination of Human ETS2 Transcription Factor.
      Title: Codon Optimization, Cloning, Expression, Purification, and Secondary Structure Determination of Human ETS2 Transcription Factor.
    10. Transcription factor Ets-2 regulates the expression of key lymphotropic factors.
      Title: Transcription factor Ets-2 regulates the expression of key lymphotropic factors.
    Submit: New GeneRIF Correction See all GeneRIFs (89)

    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
    Genome-wide association study of chronic periodontitis in a general German population.
    EBI GWAS Catalog
    Genome-wide association study on overall survival of advanced non-small cell lung cancer patients treated with carboplatin and paclitaxel.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of v-ets erythroblastosis virus E26 oncogene homolog 2 (avian, ETS2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 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

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    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 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables nuclear glucocorticoid receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA 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 ectodermal cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mesoderm development 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 transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in primitive streak formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in skeletal system development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus HDA PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein C-ets-2
    Names
    oncogene ETS-2
    v-ets avian erythroblastosis virus E2 oncogene homolog 2
    v-ets avian erythroblastosis virus E26 oncogene homolog 2
    v-ets erythroblastosis virus E26 oncogene homolog 2

    NCBI Reference Sequences (RefSeq)

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    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_001256295.2 → NP_001243224.1  protein C-ets-2 isoform 2

      See identical proteins and their annotated locations for NP_001243224.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region, and initiates translation at an alternate start codon, compared to variant 1. The resulting protein (isoform 2) has a longer N-terminus compared to isoform 1.
      Source sequence(s)
      AK000535, AK096841, AP001040, AP001041
      Conserved Domains (3) summary
      cd08543
      Location:225 → 313
      SAM_PNT-ETS-2; Sterile alpha motif (SAM)/Pointed domain of ETS-2
      smart00413
      Location:502 → 586
      ETS; erythroblast transformation specific domain
      pfam05350
      Location:39 → 143
      GSK-3_bind; Glycogen synthase kinase-3 binding

    2. NM_005239.6 → NP_005230.1  protein C-ets-2 isoform 1

      See identical proteins and their annotated locations for NP_005230.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).
      Source sequence(s)
      AA452482, AK000535, BC042954, J04102
      Consensus CDS
      CCDS13659.1
      UniProtKB/Swiss-Prot
      A6NM68, D3DSH6, P15036, Q53Y89
      UniProtKB/TrEMBL
      A0A590UJP9
      Related
      ENSP00000354194.3, ENST00000360938.8
      Conserved Domains (2) summary
      cd08543
      Location:85 → 173
      SAM_PNT-ETS-2; Sterile alpha motif (SAM)/Pointed domain of ETS-2
      smart00413
      Location:362 → 446
      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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      38805183..38824955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260935.2 → XP_005260992.1  protein C-ets-2 isoform X1

      See identical proteins and their annotated locations for XP_005260992.1

      UniProtKB/Swiss-Prot
      A6NM68, D3DSH6, P15036, Q53Y89
      UniProtKB/TrEMBL
      A0A590UJP9
      Conserved Domains (2) summary
      cd08543
      Location:85 → 173
      SAM_PNT-ETS-2; Sterile alpha motif (SAM)/Pointed domain of ETS-2
      smart00413
      Location:362 → 446
      ETS; erythroblast transformation specific domain

    2. XM_017028290.2 → XP_016883779.1  protein C-ets-2 isoform X1

      UniProtKB/Swiss-Prot
      A6NM68, D3DSH6, P15036, Q53Y89
      UniProtKB/TrEMBL
      A0A590UJP9
      Conserved Domains (2) summary
      cd08543
      Location:85 → 173
      SAM_PNT-ETS-2; Sterile alpha motif (SAM)/Pointed domain of ETS-2
      smart00413
      Location:362 → 446
      ETS; erythroblast transformation specific domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      37188973..37208712
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324370.1 → XP_054180345.1  protein C-ets-2 isoform X1

      UniProtKB/Swiss-Prot
      A6NM68, D3DSH6, P15036, Q53Y89
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P15036.1 GenPept UniProtKB/Swiss-Prot:P15036

    Gene LinkOut

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

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