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ERF ETS2 repressor factor [ Homo sapiens (human) ]

Gene ID: 2077, updated on 3-Nov-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
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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: 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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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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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

  3. XM_047438394.1 → XP_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_054320186.1 → 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

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

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

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

Gene LinkOut

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