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    ERF ETS2 repressor factor [ Homo sapiens (human) ]

    Gene ID: 2077, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. Dentici ML, et al. Eur J Hum Genet, 2024 Aug. PMID 38824261,
    2. ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. Glass GE, et al. Am J Med Genet A, 2019 Apr. PMID 30758909, Free PMC Article
    3. Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations. Huang FW, et al. Cancer Discov, 2017 Sep. PMID 28515055, Free PMC Article
    4. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. Balasubramanian M, et al. J Med Genet, 2017 Mar. PMID 27738187
    5. A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report. Körberg I, et al. BMC Med Genet, 2020 May 5. PMID 32370745, Free PMC Article

    See all (65) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
      Title: Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
    2. Activation of gamma-globin expression by LncRNA-mediated ERF promoter hypermethylation in beta-thalassemia.
      Title: Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in β-thalassemia.
    3. The CIC-ERF co-deletion underlies fusion-independent activation of ETS family member, ETV1, to drive prostate cancer progression.
      Title: The CIC-ERF co-deletion underlies fusion-independent activation of ETS family member, ETV1, to drive prostate cancer progression.
    4. Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
      Title: Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
    5. Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
      Title: Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
    6. Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
      Title: Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
    7. Identification and analysis of micro-exons in AP2/ERF and MADS gene families.
      Title: Identification and analysis of micro-exons in AP2/ERF and MADS gene families.
    8. Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
      Title: Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
    9. Here we describe a boy and his mother with different craniosynostosis patterns, but both with verified intracranial hypertension and heterozygosity for a truncating variant of ERF c.1201_1202delAA (p.Lys401Glufs*10).
      Title: A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
    10. Mutation in the ERF gene is associated with craniosynostosis syndrome.
      Title: ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (22)

    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

    Associated conditions

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

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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 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 protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific 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 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

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    Preferred Names
    ETS domain-containing transcription factor ERF

    NCBI Reference Sequences (RefSeq)

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    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_001301035.2 → NP_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:1 → 36
      Ets; Ets-domain

    2. NM_001308402.2 → NP_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:1 → 36
      Ets; Ets-domain

    3. NM_001312656.2 → NP_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:1 → 36
      Ets; Ets-domain

    4. NM_006494.4 → NP_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:26 → 111
      ETS; erythroblast transformation specific domain
      cl26464
      Location:126 → 383
      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_047438396.1 → XP_047294352.1  ETS domain-containing transcription factor ERF isoform X2

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

      UniProtKB/TrEMBL
      B7Z6N1

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

      UniProtKB/TrEMBL
      B7Z6N1

    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_054320186.1 → XP_054176161.1  ETS domain-containing transcription factor ERF isoform X2

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

      UniProtKB/TrEMBL
      B7Z6N1

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

      UniProtKB/TrEMBL
      B7Z6N1

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

      UniProtKB/TrEMBL
      B7Z6N1
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P50548.2 GenPept UniProtKB/Swiss-Prot:P50548

    Gene LinkOut

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

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