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    ERF ETS2 repressor factor [ Homo sapiens (human) ]

    Gene ID: 2077, updated on 17-Jun-2019

    Summary

    Official Symbol
    ERFprovided by HGNC
    Official Full Name
    ETS2 repressor factorprovided by HGNC
    Primary source
    HGNC:HGNC:3444
    See related
    Ensembl:ENSG00000105722 MIM:611888
    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
    PE2; CRS4; PE-2; CHYTS
    Summary
    ETS2 is a transcription factor and protooncogene involved in development, apoptosis, and the regulation of telomerase. The protein encoded by this gene binds to the ETS2 promoter and is a strong repressor of ETS2 transcription. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]
    Expression
    Ubiquitous expression in kidney (RPKM 13.9), fat (RPKM 12.9) and 25 other tissues See more
    Orthologs

    Genomic context

    See ERF in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (42247561..42255128, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42751717..42759309, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene zinc finger protein 526 Neighboring gene glycogen synthase kinase 3 alpha Neighboring gene capicua transcriptional repressor Neighboring gene ZFP161 motif-containing MPRA enhancer 284/285 Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 3 Neighboring gene proline rich 19

    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 FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Chitayat syndrome
    MedGen: C4310679 OMIM: 617180 GeneReviews: Not available
    not available
    Lambdoidal craniosynostosis
    MedGen: C3806917 OMIM: 600775 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2017-04-13)

    ClinGen Genome Curation Page
    Haploinsufficency

    Some evidence for dosage pathogenicity (Last evaluated (2017-04-13)

    ClinGen Genome Curation PagePubMed

    Pathways from BioSystems

    • Cellular Senescence, organism-specific biosystem (from REACTOME)
      Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Oncogene Induced Senescence, organism-specific biosystem (from REACTOME)
      Oncogene Induced Senescence, organism-specific biosystemOncogene-induced senescence is triggered by high level of RAS/RAF/MAPK signaling that can be caused, for example, by oncogenic mutations in RAS or RAF proteins, or by oncogenic mutations in growth fa...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitotic cell cycle NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    ETS domain-containing transcription factor ERF

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_042802.1 RefSeqGene

      Range
      5001..12604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301035.1NP_001287964.1  ETS domain-containing transcription factor ERF isoform 2

      See identical proteins and their annotated locations for NP_001287964.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. It encodes isoform 2, which has a shorter N-terminus, compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.
      Source sequence(s)
      AK297666, AW005463, BC022231
      Consensus CDS
      CCDS77308.1
      UniProtKB/Swiss-Prot
      P50548
      Related
      ENSP00000388173.2, ENST00000440177.6
      Conserved Domains (1) summary
      cl02599
      Location:136
      Ets; Ets-domain
    2. NM_001308402.2NP_001295331.1  ETS domain-containing transcription factor ERF isoform 2

      See identical proteins and their annotated locations for NP_001295331.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.
      Source sequence(s)
      AA961500, BC022231, DC407368
      Consensus CDS
      CCDS77308.1
      UniProtKB/Swiss-Prot
      P50548
      Conserved Domains (1) summary
      cl02599
      Location:136
      Ets; Ets-domain
    3. NM_001312656.2NP_001299585.1  ETS domain-containing transcription factor ERF isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1. Variants 2, 3, and 4 all encode isoform 2.
      Source sequence(s)
      AW005463, BC022231, DB246848
      Consensus CDS
      CCDS77308.1
      UniProtKB/Swiss-Prot
      P50548
      Conserved Domains (1) summary
      cl02599
      Location:136
      Ets; Ets-domain
    4. NM_006494.4NP_006485.2  ETS domain-containing transcription factor ERF isoform 1

      See identical proteins and their annotated locations for NP_006485.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AW005463, BC022231, DC371332, U15655
      Consensus CDS
      CCDS12600.1
      UniProtKB/Swiss-Prot
      P50548
      UniProtKB/TrEMBL
      A0A024R0L4
      Related
      ENSP00000222329.3, ENST00000222329.9
      Conserved Domains (2) summary
      smart00413
      Location:26111
      ETS; erythroblast transformation specific domain
      cl26464
      Location:126383
      Atrophin-1; Atrophin-1 family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

      Range
      42247561..42255128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017026469.1XP_016881958.1  ETS domain-containing transcription factor ERF isoform X1

      UniProtKB/Swiss-Prot
      P50548
      Conserved Domains (1) summary
      cl02599
      Location:136
      Ets; Ets-domain
    2. XM_017026468.1XP_016881957.1  ETS domain-containing transcription factor ERF isoform X1

      UniProtKB/Swiss-Prot
      P50548
      Conserved Domains (1) summary
      cl02599
      Location:136
      Ets; Ets-domain
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