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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
  • 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 erf-related craniosynostosis. 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 ETS2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERF Gene

Genomics for ERF Gene

Regulatory Elements for ERF Gene

Promoters for ERF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERF on UCSC Golden Path with GeneCards custom track

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

Proteomics data for ERF Gene at MOPED

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

Other Protein References for ERF Gene

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 :
  • Contains 1 ETS DNA-binding domain.
  • Belongs to the ETS family.
Domain:
  • Contains 1 ETS DNA-binding domain.
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 --
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

miRNA for ERF Gene

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
Jensen Localization Image for ERF Gene COMPARTMENTS Subcellular localization image for ERF gene
Compartment Confidence
nucleus 5
cytosol 4
golgi apparatus 4
endoplasmic reticulum 2
plasma membrane 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ERF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
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: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:

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 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, MOPED, and MaxQB for ERF Gene



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.
genes like me logo Genes that share expression patterns with ERF: view

Protein tissue co-expression partners for ERF Gene

- Elite partner

Primer Products

In Situ Assay 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 36
  • 100 (a)
OneToOne
ERF 35
  • 99.27 (n)
  • 99.82 (a)
cow
(Bos Taurus)
Mammalia ERF 35
  • 89.74 (n)
  • 95.42 (a)
ERF 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERF 36
  • 98 (a)
OneToOne
ERF 35
  • 92.46 (n)
  • 99.09 (a)
mouse
(Mus musculus)
Mammalia Erf 16
Erf 35
  • 88.44 (n)
  • 95.07 (a)
Erf 36
  • 96 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERF 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Erf 35
  • 88.26 (n)
  • 95.26 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16754 35
tropical clawed frog
(Silurana tropicalis)
Amphibia erf 35
  • 69.5 (n)
  • 76.81 (a)
Str.1446 35
zebrafish
(Danio rerio)
Actinopterygii Dr.13342 35
erf 35
  • 64.28 (n)
  • 67.5 (a)
erfl1 36
  • 70 (a)
OneToOne
Species with no ortholog for ERF:
  • 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

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
rs1053655 - 42,249,498(-) TCCCC(A/G)CGCCG reference, missense
VAR_070098 Craniosynostosis 4 (CRS4)
VAR_070099 Craniosynostosis 4 (CRS4)
rs1468691 -- 42,250,285(+) ACCCC(A/G)GGGGG intron-variant
rs1063897 -- 42,248,970(-) CCAGC(C/G)GCCCC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv522854 CNV Gain 19592680
nsv520239 CNV Loss 19592680
nsv911782 CNV Loss 21882294
nsv833833 CNV Loss 17160897
nsv526186 CNV Gain 19592680
esv2422471 CNV Deletion 17116639
nsv833834 CNV Loss 17160897
dgv3884n71 CNV Loss 21882294
nsv911785 CNV Loss 21882294

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

HapMap Linkage Disequilibrium report
ERF
Human Gene Mutation Database (HGMD)
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
  • crs4
erf-related craniosynostosis
  • craniosynostosis 4
kleeblattschaedel syndrome
  • cloverleaf skull syndrome
familial lambdoid synostosis
cole-carpenter syndrome 2
  • clcrp2
- 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. 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 23 67
  2. 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 23
  3. 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 23
  4. Ets-2 Repressor Factor (ERF) mediates repression of the human cytomegalovirus major immediate-early promoter in undifferentiated non-permissive cells. (PMID: 12533699) Bain M. … Sinclair J. (J. Gen. Virol. 2003) 3 23
  5. ERF: genomic organization, chromosomal localization and promoter analysis of the human and mouse genes. (PMID: 9136988) Liu D. … Mavrothalassitis G. (Oncogene 1997) 3 23

Products for ERF Gene

Sources for ERF Gene

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