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    ERF ETS2 repressor factor [ Homo sapiens (human) ]

    Gene ID: 2077, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:3444
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ERF in Genome Data Viewer
    Location:
    19q13.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (42247569..42255128, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (45066943..45074502, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (42751721..42759280, 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 ATAC-STARR-seq lymphoblastoid silent region 10692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10693 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42747245-42748039 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42748040-42748833 Neighboring gene Sharpr-MPRA regulatory region 11582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10694 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10695 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10696 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10697 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:42758837-42759336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42759977-42760508 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42761304-42762125 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42762126-42762946 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14711 Neighboring gene capicua transcriptional repressor Neighboring gene ZFP161 motif-containing MPRA enhancer 284/285 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:42784339-42784844 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10703 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:42785857-42786361 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:42787942-42788116 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42794166-42795066 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14712 Neighboring gene platelet activating factor acetylhydrolase 1b catalytic subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14713 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:42806463-42807117 Neighboring gene proline rich 19

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Chitayat syndrome
    MedGen: C4310679 OMIM: 617180 GeneReviews: Not available
    Compare labs
    Craniosynostosis 4
    MedGen: C1833340 OMIM: 600775 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-06-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2021-06-08)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    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 cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    ETS domain-containing transcription factor ERF

    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.

    Genomic

    1. NG_042802.1 RefSeqGene

      Range
      5037..12596
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001301035.2NP_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/TrEMBL
      B7Z6N1
      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/TrEMBL
      B7Z6N1
      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/TrEMBL
      B7Z6N1
      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
      B2RAP1, B7Z4R0, P50548, Q59G38, Q9UPI7
      UniProtKB/TrEMBL
      B7Z6N1
      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: 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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      42247569..42255128 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047438396.1XP_047294352.1  ETS domain-containing transcription factor ERF isoform X2

    2. XM_047438395.1XP_047294351.1  ETS domain-containing transcription factor ERF isoform X1

    3. XM_047438394.1XP_047294350.1  ETS domain-containing transcription factor ERF isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      45066943..45074502 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320186.1XP_054176161.1  ETS domain-containing transcription factor ERF isoform X2

    2. XM_054320184.1XP_054176159.1  ETS domain-containing transcription factor ERF isoform X1

    3. XM_054320183.1XP_054176158.1  ETS domain-containing transcription factor ERF isoform X1

    4. XM_054320185.1XP_054176160.1  ETS domain-containing transcription factor ERF isoform X1