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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 Kleeblattschaedel Syndrome. Among its related pathways are Cellular Senescence and Oncogene Induced Senescence. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding 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

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

Genomics for ERF Gene

Regulatory Elements for ERF Gene

Enhancers for ERF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G041294 2.1 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +951.9 951868 16.8 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 SNRPA ZNF526 ENSG00000269843 ZNF574 TGFB1 TMEM91 ITPKC HNRNPUL1 CCDC97 B9D2
GH19G041957 1.4 ENCODE dbSUPER 10.3 +296.5 296530 2.9 HDGF PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A DMAP1 YY1 ZNF526 RABAC1 RPS19 CCDC97 MEGF8 CD79A ATP1A3 ZNF574 ERF TMEM145
GH19G042228 1.2 ENCODE dbSUPER 12 +25.1 25135 2.7 HDAC1 HDGF PKNOX1 CREB3L1 SIN3A ZNF2 TCF12 ZNF121 CREM ZNF362 ERF POU2F2 GRIK5 GC19P042230 ZNF526
GH19G041499 1.3 Ensembl ENCODE 10.3 +754.3 754301 2.5 SIN3A FEZF1 ZNF2 ELK1 ZNF302 KLF7 FOS SP3 YY2 REST NUMBL SNRPA PCAT19 ZNF526 CCDC97 MEGF8 ENSG00000269843 ZNF574 COQ8B CIC
GH19G041772 1.3 ENCODE dbSUPER 10.3 +480.8 480849 4.4 HNRNPUL1 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A ZNF2 ZBTB7B ZNF143 ZNF526 CCDC97 ENSG00000269843 CEACAM5 CEACAM7 ERF RPS19 HNRNPA1P52 RABAC1 ENSG00000268833
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERF on UCSC Golden Path with GeneCards custom track

Promoters for ERF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000109783 364 3201 HDGF CREB3L1 AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF143 ZNF207

Genomic Location for ERF Gene

Chromosome:
19
Start:
42,247,561 bp from pter
End:
42,255,164 bp from pter
Size:
7,604 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

No data available for DME Specific Peptides for ERF Gene

Domains & Families for ERF Gene

Gene Families for ERF Gene

Protein Domains for ERF Gene

Suggested Antigen Peptide Sequences for ERF Gene

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

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).

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:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0003714 transcription corepressor activity IDA,IEA 7588608
GO:0043565 sequence-specific DNA binding 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 tm1Gmav
  • Erf tm1.1(KOMP)Mbp
  • Erf tm2.1Gmav

Animal Model Products

CRISPR Products

miRNA for ERF Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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
endoplasmic reticulum 2
extracellular 1

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 from RNA polymerase II promoter 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

Transcripts for ERF Gene

Unigene Clusters for ERF Gene

Ets2 repressor factor:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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: - -
SP4:

Relevant External Links for ERF Gene

GeneLoc Exon Structure for
ERF
ECgene alternative splicing isoforms for
ERF

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:

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(4.4)
  • 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
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
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

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 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia ERF 34 35
  • 92.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERF 35
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERF 34 35
  • 89.74 (n)
mouse
(Mus musculus)
Mammalia Erf 34 16 35
  • 88.44 (n)
rat
(Rattus norvegicus)
Mammalia Erf 34
  • 88.26 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia erf 34
  • 69.5 (n)
Str.1446 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.16754 34
zebrafish
(Danio rerio)
Actinopterygii erfl1 35
  • 70 (a)
OneToOne
erf 34
  • 64.28 (n)
Dr.13342 34
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

ENSEMBL:
Gene Tree for ERF (if available)
TreeFam:
Gene Tree for ERF (if available)

Paralogs for ERF Gene

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

Pseudogenes.org 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 Sequence Context AA Info Type
rs587777008 Pathogenic, Craniosynostosis 4 (CRS4) [MIM:600775] 42,250,332(+) TCACC(A/G)CAGGG reference, missense
rs587777009 Pathogenic, Craniosynostosis 4 (CRS4) [MIM:600775] 42,250,394(+) ACAGC(C/T)GGGCC reference, missense, utr-variant-5-prime
VAR_078043 Chitayat syndrome (CHYTS) [MIM:617180]
rs587777006 Pathogenic 42,249,565(+) GCCTC(A/G)GCCCA reference, stop-gained
rs587777007 Pathogenic 42,249,220(+) TCCCC(-/CT)GAGCC reference, frameshift-variant

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)

Relevant External Links for ERF Gene

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

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

Disorders for ERF Gene

MalaCards: The human disease database

(14) MalaCards diseases for ERF Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
craniosynostosis 4
  • familial lambdoid synostosis
kleeblattschaedel syndrome
  • cloverleaf skull syndrome
chitayat syndrome
  • chyts
isolated scaphocephaly
  • isolated dolichocephaly
crouzon syndrome
  • craniofacial dysostosis
- 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 mutations affecting the gene represented in this entry.

Relevant External Links for ERF

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 C.M. … Kaufman R.E. (Genomics 1997) 2 3 4 22 64
  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 D.N. … Mavrothalassitis G.J. (EMBO J. 1995) 2 3 4 22 64
  3. Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. (PMID: 23354439) Twigg S.R. … Wilkie A.O. (Nat. Genet. 2013) 3 4 64
  4. Differential repression of c-myc and cdc2 gene expression by ERF and PE-1/METS. (PMID: 17525531) Hester K.D. … Glass C.K. (Cell Cycle 2007) 3 22 64
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4 64

Products for ERF Gene

Sources for ERF Gene

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