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Aliases for ERF Gene

Aliases for ERF Gene

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

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 Oncogene Induced Senescence and Cellular Senescence (REACTOME). 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 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

Additional gene information for ERF Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERF Gene

Genomics for ERF Gene

GeneHancer (GH) Regulatory Elements for ERF Gene

Promoters and enhancers for ERF Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I042249 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +1.9 1881 7.9 HDGF CLOCK SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF213 ZNF207 ZNF143 ENSG00000268643 ERF ZNF526 HNRNPUL1 POU2F2 MEGF8 GRIK5 TMEM145 PAFAH1B3 PRR19
GH19I041294 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 +951.9 951867 16.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 CCDC97 ZNF526 HNRNPUL1 SNRPA ZNF574 ENSG00000269843 COQ8B TGFB1 AXL ITPKC
GH19I041957 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.3 +296.5 296529 2.9 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 POLR2B RABAC1 ZNF526 HNRNPUL1 CCDC97 ZNF574 RPS19 MEGF8 CD79A ATP1A3 ERF
GH19I042301 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.5 -47.5 -47528 2.3 HDGF CLOCK ARID4B SIN3A DMAP1 ZNF2 ZNF213 ZNF143 KLF13 SP3 PRR19 PAFAH1B3 ZNF526 CCDC97 ZNF574 RPS19 ERF MEGF8 CD79A
GH19I042178 Promoter/Enhancer 1.4 Ensembl ENCODE 10.5 +78.1 78106 0.9 SIN3A ZNF2 ZNF48 ZNF143 ZNF548 YY2 ZNF610 PRDM4 CTCF ZSCAN18 ZNF526 HNRNPUL1 CCDC97 LOC100505622 DEDD2 MEGF8 ERF ZNF574 RPS19 POU2F2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERF on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERF gene promoter:

Genomic Locations for ERF Gene

Genomic Locations for ERF Gene
7,604 bases
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:
    Recommended name:
    ETS domain-containing transcription factor ERF
    Protein Accession:
    Secondary Accessions:
    • B2RAP1
    • B7Z4R0
    • Q59G38
    • Q9UPI7

    Protein attributes for ERF Gene

    548 amino acids
    Molecular mass:
    58703 Da
    Quaternary structure:
    No Data Available
    • 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


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

No data available for DME Specific Peptides for ERF Gene

Domains & Families for ERF Gene

Gene Families for ERF Gene

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

Suggested Antigen Peptide Sequences for ERF Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ETS 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

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
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).

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 RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA --
GO:0001227 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IC --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
GO:0003714 transcription corepressor activity IEA,IDA 7588608
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:

Animal Model Products

CRISPR Products

miRNA for ERF Gene

Inhibitory RNA Products

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


Subcellular locations from

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
endoplasmic reticulum 2
extracellular 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:0005634 nucleus IBA,IEA --
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 IDA 7588608
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007049 cell cycle NAS 7588608
GO:0030154 cell differentiation IBA --
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

Unigene Clusters for ERF Gene

Ets2 repressor factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

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

Relevant External Links for ERF Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ERF Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ERF Gene

Protein tissue co-expression partners for ERF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERF Gene:


SOURCE GeneReport for Unigene cluster for ERF Gene:


mRNA Expression by UniProt/SwissProt for ERF Gene:

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

Evidence on tissue expression from TISSUES for ERF Gene

  • Nervous system(4.4)
  • Heart(4.3)
  • Liver(4.3)
  • Intestine(4.2)
  • Kidney(2.2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
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
  • heart
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ERF: view

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
(Pan troglodytes)
Mammalia ERF 34 33
  • 99.27 (n)
(Canis familiaris)
Mammalia ERF 34 33
  • 92.46 (n)
(Ornithorhynchus anatinus)
Mammalia ERF 34
  • 92 (a)
(Bos Taurus)
Mammalia ERF 34 33
  • 89.74 (n)
(Mus musculus)
Mammalia Erf 33 16 34
  • 88.44 (n)
(Rattus norvegicus)
Mammalia Erf 33
  • 88.26 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia erf 33
  • 69.5 (n)
Str.1446 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16754 33
(Danio rerio)
Actinopterygii erfl1 34
  • 70 (a)
erf 33
  • 64.28 (n)
Dr.13342 33
Species where no ortholog for ERF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for ERF (if available)
Gene Tree for ERF (if available)

Paralogs for ERF Gene

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

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

Variants for ERF Gene

Sequence variations from dbSNP and Humsavar for ERF Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs139842507 benign, Craniosynostosis 1 42,248,868(-) G/A/C coding_sequence_variant, missense_variant
rs145699948 benign, Craniosynostosis 1 42,249,272(-) C/T coding_sequence_variant, synonymous_variant
rs199960550 likely-benign, Craniosynostosis 1 42,248,997(-) GAAGAAGAAGAAGA/GAAGAAGA/GAAGAAGAAGA/GAAGAAGAAGAAGAAGA coding_sequence_variant, inframe_deletion, inframe_insertion
rs587777006 pathogenic, Craniosynostosis 4, Craniosynostosis 1 42,249,565(-) G/A/C coding_sequence_variant, missense_variant, stop_gained
rs587777007 pathogenic, Craniosynostosis 4 42,249,220(-) CT/ coding_sequence_variant, frameshift

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for ERF Gene

MalaCards: The human disease database

(13) MalaCards diseases for ERF Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
craniosynostosis 4
  • crs4
chitayat syndrome
  • chyts
  • cloverleaf skull
isolated scaphocephaly
  • isolated dolichocephaly
craniosynostosis 1
  • crs1
- elite association - COSMIC cancer census association via MalaCards
Search ERF in MalaCards View complete list of genes associated with diseases


  • 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 mutations affecting the gene represented in this entry.
  • 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 mutations affecting the gene represented in this entry.
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 58
  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 58
  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 58
  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 58
  5. Differential repression of c-myc and cdc2 gene expression by ERF and PE-1/METS. (PMID: 17525531) Hester KD … Glass CK (Cell cycle (Georgetown, Tex.) 2007) 3 22 58

Products for ERF Gene

Sources for ERF Gene

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