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] See more...

Aliases for ERF Gene

Aliases for ERF Gene

  • ETS2 Repressor Factor 2 3 5
  • PE-2 2 3 4
  • ETS Domain-Containing Transcription Factor ERF 3 4
  • Ets2 Repressor Factor 2 4
  • PE2 2 3
  • CHYTS 3
  • CRS4 3
  • ERF 5

External Ids for ERF Gene

Previous GeneCards Identifiers for ERF Gene

  • GC19M043398
  • GC19M043143
  • GC19M047427
  • GC19M047443
  • GC19M042751
  • GC19M039182

Summaries for ERF Gene

Entrez Gene Summary for ERF Gene

  • 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]

GeneCards Summary for ERF Gene

ERF (ETS2 Repressor Factor) is a Protein Coding gene. Diseases associated with ERF include Craniosynostosis 4 and Chitayat Syndrome. Among its related pathways are Cellular Senescence (REACTOME) and Oncogene Induced Senescence. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription corepressor activity. An important paralog of this gene is ETV3.

UniProtKB/Swiss-Prot Summary for ERF Gene

  • Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity).

Gene Wiki entry for ERF Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERF Gene

Genomics for ERF Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERF Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J042249 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +1.9 1872 8 BCLAF1 SP1 ZNF207 NCOR1 ZNF600 IKZF1 MYC ZNF580 ZNF592 ATF2 ENSG00000268643 ERF HSALNG0126280 HSALNG0126281 lnc-GSK3A-2 ZNF526 HNRNPUL1 ZNF574 CCDC97 CIC
GH19J042248 Promoter/Enhancer 0.5 EPDnew dbSUPER 250.4 +6.9 6904 0.1 lnc-GSK3A-1 ERF GSK3A ENSG00000268643
GH19J041294 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +951.8 951781 16.9 BCLAF1 SP1 ZNF654 ZNF207 MYC NCOR1 IKZF1 ZNF600 SIX5 JUND CCDC97 ZNF526 HNRNPUL1 SNRPA ZNF574 ENSG00000269843 COQ8B TGFB1 ITPKC TMEM91
GH19J041957 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.3 +296.4 296430 3 BCLAF1 SP1 ZNF207 MYC ZNF654 ZNF600 IKZF1 SIX5 ZNF580 POLR2A RABAC1 AB372688 HSALNG0126259 lnc-RABAC1-1 ZNF526 HNRNPUL1 CCDC97 ZNF574 RPS19 MEGF8
GH19J042301 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.5 -47.3 -47296 2.8 SP1 MYC ZNF600 JUND ZNF580 ZNF592 KLF9 ZNF223 ZNF10 ZSCAN16 PAFAH1B3 PRR19 ZNF526 ZNF574 CCDC97 ERF RPS19 MEGF8 CD79A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERF on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERF

Top Transcription factor binding sites by QIAGEN in the ERF gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • CREB
  • deltaCREB
  • p53

Genomic Locations for ERF Gene

Latest Assembly
chr19:42,247,569-42,255,128
(GRCh38/hg38)
Size:
7,560 bases
Orientation:
Minus strand

Previous Assembly
chr19:42,751,721-42,759,280
(GRCh37/hg19 by Entrez Gene)
Size:
7,560 bases
Orientation:
Minus strand

chr19:42,751,724-42,759,309
(GRCh37/hg19 by Ensembl)
Size:
7,586 bases
Orientation:
Minus strand

Genomic View for ERF Gene

Genes around ERF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERF Gene

Proteins for ERF Gene

  • Protein details for ERF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50548-ERF_HUMAN
    Recommended name:
    ETS domain-containing transcription factor ERF
    Protein Accession:
    P50548
    Secondary Accessions:
    • B2RAP1
    • B7Z4R0
    • Q59G38
    • Q9UPI7

    Protein attributes for ERF Gene

    Size:
    548 amino acids
    Molecular mass:
    58703 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAD92508.1; Type=Miscellaneous discrepancy; Note=The sequence differs from that shown because it seems to be derived from a pre-mRNA.; Evidence={ECO:0000305};

    Alternative splice isoforms for ERF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERF Gene

Post-translational modifications for ERF Gene

  • Phosphorylated by multiple kinases including MAPK1/ERK2 at THR-526. Phosphorylation regulates the activity of ERF.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for ERF

No data available for DME Specific Peptides for ERF Gene

Domains & Families for ERF Gene

Gene Families for ERF Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for ERF Gene

InterPro:
Blocks:
  • Polysaccharide lyase family 8-like, C-terminal

Suggested Antigen Peptide Sequences for ERF Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51249, highly similar to ETS domain-containing transcription factor ERF (B7Z4R0_HUMAN)
  • PE-2 (ERF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P50548

UniProtKB/Swiss-Prot:

ERF_HUMAN :
  • Belongs to the ETS family.
Family:
  • Belongs to the ETS family.
genes like me logo Genes that share domains with ERF: view

Function for ERF Gene

Molecular function for ERF Gene

UniProtKB/Swiss-Prot Function:
Potent transcriptional repressor that binds to the H1 element of the Ets2 promoter. May regulate other genes involved in cellular proliferation. Required for extraembryonic ectoderm differentiation, ectoplacental cone cavity closure, and chorioallantoic attachment (By similarity). May be important for regulating trophoblast stem cell differentiation (By similarity).
GENATLAS Biochemistry:
Ets 2 repressor factor,ubiquitously expressed with highest levels in the testis,ovary,pancreas,heart,regulated by MAPK phosphorylation during cell cycle and mitogenic stimulation,putatively involved in carcinogenesis

Phenotypes From GWAS Catalog for ERF Gene

Gene Ontology (GO) - Molecular Function for ERF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001217 bacterial-type RNA polymerase transcriptional repressor activity, sequence-specific DNA binding IEA --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 7588608
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with ERF: view
genes like me logo Genes that share phenotypes with ERF: view

Human Phenotype Ontology for ERF Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERF Gene

MGI Knock Outs for ERF:
  • Erf Erf<tm1.1(KOMP)Mbp>
  • Erf Erf<tm1Gmav>
  • Erf Erf<tm2.1Gmav>

miRNA for ERF Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERF

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ERF Gene

Localization for ERF Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERF Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERF gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
endoplasmic reticulum 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ERF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ERF: view

Pathways & Interactions for ERF Gene

genes like me logo Genes that share pathways with ERF: view

Pathways by source for ERF Gene

SIGNOR curated interactions for ERF Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ERF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,IDA 7588608
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0030154 cell differentiation IBA 21873635
genes like me logo Genes that share ontologies with ERF: view

Drugs & Compounds for ERF Gene

No Compound Related Data Available

Transcripts for ERF Gene

mRNA/cDNA for ERF Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERF

Alternative Splicing Database (ASD) splice patterns (SP) for ERF Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c
SP1: - - -
SP2: - -
SP3: - -
SP4:

Relevant External Links for ERF Gene

GeneLoc Exon Structure for
ERF

Expression for ERF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERF Gene

Protein differential expression in normal tissues from HIPED for ERF Gene

This gene is overexpressed in Platelet (37.3) and Testis (15.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERF Gene



Protein tissue co-expression partners for ERF Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERF

SOURCE GeneReport for Unigene cluster for ERF Gene:

Hs.655969

mRNA Expression by UniProt/SwissProt for ERF Gene:

P50548-ERF_HUMAN
Tissue specificity: Highest levels in testis, ovary, pancreas, and heart.

Evidence on tissue expression from TISSUES for ERF Gene

  • Nervous system(4.6)
  • Liver(4.4)
  • Intestine(4.4)
  • Heart(4.4)
  • Skin(2.5)
  • Kidney(2.5)
  • Blood(2.1)
  • Muscle(2.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERF Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • heart
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ERF: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ERF Gene

Orthologs for ERF Gene

This gene was present in the common ancestor of chordates.

Orthologs for ERF Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ERF 29 30
  • 99.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ERF 29 30
  • 92.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ERF 30
  • 92 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ERF 29 30
  • 89.74 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Erf 29 16 30
  • 88.44 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Erf 29
  • 88.26 (n)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia erf 29
  • 69.5 (n)
Str.1446 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.16754 29
Zebrafish
(Danio rerio)
Actinopterygii erfl1 30
  • 70 (a)
OneToOne
erf 29
  • 64.28 (n)
Dr.13342 29
Species where no ortholog for ERF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ERF Gene

ENSEMBL:
Gene Tree for ERF (if available)
TreeFam:
Gene Tree for ERF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERF: view image
Alliance of Genome Resources:
Additional Orthologs for ERF

Paralogs for ERF Gene

(7) SIMAP similar genes for ERF Gene using alignment to 4 proteins:

  • ERF_HUMAN
  • B7Z4R0_HUMAN
  • M0QX79_HUMAN
  • M0QXN0_HUMAN

Pseudogenes.org Pseudogenes for ERF Gene

genes like me logo Genes that share paralogs with ERF: view

Variants for ERF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERF Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
1018043 Uncertain Significance: Craniosynostosis 1 42,250,478(-) A/G
NM_006494.4(ERF):c.110T>C (p.Leu37Pro)
MISSENSE_VARIANT,FIVE_PRIME_UTR
1031050 Uncertain Significance: Craniosynostosis 4 42,249,082(-) G/C
NM_006494.4(ERF):c.1030C>G (p.Arg344Gly)
MISSENSE
1031051 Likely Pathogenic: Craniosynostosis 4 42,250,547(-) C/T
NM_006494.4(ERF):c.41G>A (p.Trp14Ter)
NONSENSE,FIVE_PRIME_UTR
1043453 Uncertain Significance: Craniosynostosis 1 42,249,288(-) A/G
NM_006494.4(ERF):c.824T>C (p.Leu275Pro)
MISSENSE
856235 Uncertain Significance: Craniosynostosis 1 42,249,580(-) C/G
NM_006494.4(ERF):c.532G>C (p.Ala178Pro)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ERF Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ERF Gene

Variant ID Type Subtype PubMed ID
esv2422471 CNV deletion 17116639
nsv1071934 CNV deletion 25765185
nsv1160627 CNV deletion 26073780
nsv520239 CNV loss 19592680
nsv522854 CNV gain 19592680
nsv526186 CNV gain 19592680
nsv833833 CNV loss 17160897
nsv833834 CNV loss 17160897
nsv953583 CNV deletion 24416366

Variation tolerance for ERF Gene

Residual Variation Intolerance Score: 6.75% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.22; 24.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERF Gene

Human Gene Mutation Database (HGMD)
ERF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERF
Leiden Open Variation Database (LOVD)
ERF

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERF Gene

Disorders for ERF Gene

MalaCards: The human disease database

(24) MalaCards diseases for ERF Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
craniosynostosis 4
  • crs4
chitayat syndrome
  • chyts
lambdoid synostosis
  • craniosynostosis, lambdoidal
isolated oxycephaly
  • acrocephaly
isolated scaphocephaly
  • isolated dolichocephaly
- elite association - COSMIC cancer census association via MalaCards
Search ERF in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERF_HUMAN
  • Craniosynostosis 4 (CRS4) [MIM:600775]: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. {ECO:0000269 PubMed:23354439}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Chitayat syndrome (CHYTS) [MIM:617180]: An autosomal dominant syndrome characterized by hyperphalangism, partial syndactyly, bilateral accessory phalanx resulting in shortened index fingers, hallux valgus, brachydactyly, facial anomalies, diffuse bronchomalacia, and respiratory distress at birth and in infancy. {ECO:0000269 PubMed:27738187}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ERF

genes like me logo Genes that share disorders with ERF: view

No data available for Genatlas for ERF Gene

Publications for ERF Gene

  1. Genomic structure and chromosomal localization of the novel ETS factor, PE-2 (ERF). (PMID: 9192842) de Castro CM … Kaufman RE (Genomics 1997) 2 3 4 22
  2. ERF: an ETS domain protein with strong transcriptional repressor activity, can suppress ets-associated tumorigenesis and is regulated by phosphorylation during cell cycle and mitogenic stimulation. (PMID: 7588608) Sgouras DN … Mavrothalassitis GJ (The EMBO journal 1995) 2 3 4 22
  3. Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene. (PMID: 27738187) Balasubramanian M … Chitayat D (Journal of medical genetics 2017) 3 4 72
  4. Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. (PMID: 23354439) Twigg SR … Wilkie AO (Nature genetics 2013) 3 4 72
  5. ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome. (PMID: 30758909) Glass GE … Wilson LC (American journal of medical genetics. Part A 2019) 3 72

Products for ERF Gene

Sources for ERF Gene