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Aliases for EREG Gene

Aliases for EREG Gene

  • Epiregulin 2 3 5
  • Proepiregulin 3
  • EPR 3
  • EP 3
  • ER 3

External Ids for EREG Gene

Previous GeneCards Identifiers for EREG Gene

  • GC04P075220
  • GC04P075470
  • GC04P075631
  • GC04P075697
  • GC04P075595
  • GC04P071043

Summaries for EREG Gene

Entrez Gene Summary for EREG Gene

  • This gene encodes a secreted peptide hormone and member of the epidermal growth factor (EGF) family of proteins. The encoded protein is a ligand of the epidermal growth factor receptor (EGFR) and the structurally related erb-b2 receptor tyrosine kinase 4 (ERBB4). The encoded protein may be involved in a wide range of biological processes including inflammation, wound healing, oocyte maturation, and cell proliferation. Additionally, the encoded protein may promote the progression of cancers of various human tissues. [provided by RefSeq, Jul 2015]

CIViC summary for EREG Gene

GeneCards Summary for EREG Gene

EREG (Epiregulin) is a Protein Coding gene. Diseases associated with EREG include Breast Cancer. Among its related pathways are RET signaling and ErbB signaling pathway. GO annotations related to this gene include growth factor activity and epidermal growth factor receptor binding.

UniProtKB/Swiss-Prot for EREG Gene

  • Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation (PubMed:9419975). Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling and by stimulating cell proliferation (PubMed:24631357).

Gene Wiki entry for EREG Gene

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

Genomics for EREG Gene

Regulatory Elements for EREG Gene

Enhancers for EREG 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
GH04G074326 1.8 FANTOM5 Ensembl ENCODE dbSUPER 43.8 -35.3 -35340 5.7 HDAC1 TBP CBX3 ARNT CHAMP1 TCF12 ZNF766 FOS BCLAF1 ZBTB2 EREG CXCL2 CXCL3 RASSF6 MTHFD2L LOC105377276 GC04M074313
GH04G074107 1.8 FANTOM5 Ensembl ENCODE dbSUPER 38.6 -252.2 -252229 10.3 SIN3A YY1 GATA2 FOS JUNB MEF2D MAFF SMARCA4 MYNN STAT3 CXCL2 EREG CXCL8 CXCL3 MTHFD2L CXCL1 AREG
GH04G074230 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.5 -133.8 -133786 2.4 TBP JUN BACH1 CEBPG RFX5 ZNF507 NFE2 FOS MAFK NFE2L2 CXCL8 EREG CXCL2 CXCL3 MTHFD2L GC04P074159 EPGN
GH04G074205 1.8 FANTOM5 Ensembl ENCODE dbSUPER 20.5 -158.1 -158130 3.8 HDAC1 TBP ATF1 TBL1XR1 ZBTB40 TCF12 RELB CREM EGR2 NCOA1 EREG CXCL8 CXCL2 CXCL3 EPGN MTHFD2L GC04P074159
GH04G074054 1.9 FANTOM5 Ensembl ENCODE dbSUPER 16.2 -308.8 -308816 4.6 HDGF PKNOX1 CREB3L1 ARNT ZNF766 FOS KLF13 JUNB ZNF592 MEF2D CXCL8 EREG MTHFD2L CXCL2 CXCL3 PPBPP2 LOC643014
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EREG on UCSC Golden Path with GeneCards custom track

Promoters for EREG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000169317 257 1601 TBP PKNOX1 RB1 SIN3A NFXL1 ZNF335 RELB ZNF263 SMAD5 GTF2B

Genomic Location for EREG Gene

Chromosome:
4
Start:
74,365,143 bp from pter
End:
74,388,760 bp from pter
Size:
23,618 bases
Orientation:
Plus strand

Genomic View for EREG Gene

Genes around EREG on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EREG Gene

Proteins for EREG Gene

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

    Protein Symbol:
    O14944-EREG_HUMAN
    Recommended name:
    Proepiregulin
    Protein Accession:
    O14944
    Secondary Accessions:
    • B2RC66
    • Q6FH69

    Protein attributes for EREG Gene

    Size:
    169 amino acids
    Molecular mass:
    19044 Da
    Quaternary structure:
    • Interacts with EGFR and ERBB4.

    Three dimensional structures from OCA and Proteopedia for EREG Gene

neXtProt entry for EREG Gene

Post-translational modifications for EREG Gene

  • Glycosylation at isoforms=47
  • Modification sites at PhosphoSitePlus

Other Protein References for EREG Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EREG (Epiregulin)

No data available for DME Specific Peptides for EREG Gene

Domains & Families for EREG Gene

Protein Domains for EREG Gene

Suggested Antigen Peptide Sequences for EREG Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with EREG: view

No data available for Gene Families and UniProtKB/Swiss-Prot for EREG Gene

Function for EREG Gene

Molecular function for EREG Gene

UniProtKB/Swiss-Prot Function:
Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation (PubMed:9419975). Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling and by stimulating cell proliferation (PubMed:24631357).

Gene Ontology (GO) - Molecular Function for EREG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity TAS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005154 epidermal growth factor receptor binding TAS,IEA 10681561
GO:0005515 protein binding IPI 9419975
GO:0008083 growth factor activity IBA,IEA --
genes like me logo Genes that share ontologies with EREG: view
genes like me logo Genes that share phenotypes with EREG: view

Animal Models for EREG Gene

MGI Knock Outs for EREG:

Animal Model Products

  • Taconic Biosciences Mouse Models for EREG

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EREG Gene

Localization for EREG Gene

Subcellular locations from UniProtKB/Swiss-Prot for EREG Gene

Epiregulin: Secreted, extracellular space.
Proepiregulin: Cell membrane; Single-pass type I membrane protein.

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 EREG gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for EREG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA,IEA 9337852
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 9337852
genes like me logo Genes that share ontologies with EREG: view

Pathways & Interactions for EREG Gene

SuperPathway Contained pathways
1 RET signaling
2 Signaling by ERBB2
3 GAB1 signalosome
4 ErbB signaling pathway
5 Signaling by ERBB4
genes like me logo Genes that share pathways with EREG: view

Pathways by source for EREG Gene

1 KEGG pathway for EREG Gene
2 GeneGo (Thomson Reuters) pathways for EREG Gene
1 Qiagen pathway for EREG Gene

SIGNOR curated interactions for EREG Gene

Activates:

Gene Ontology (GO) - Biological Process for EREG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0001525 angiogenesis IEA --
GO:0001550 ovarian cumulus expansion ISS,IEA --
GO:0001556 oocyte maturation IEA,ISS --
GO:0001819 positive regulation of cytokine production IEA,ISS --
genes like me logo Genes that share ontologies with EREG: view

Drugs & Compounds for EREG Gene

(7) Drugs for EREG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for EREG Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with EREG: view

Transcripts for EREG Gene

mRNA/cDNA for EREG Gene

Unigene Clusters for EREG Gene

Epiregulin:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for EREG Gene

GeneLoc Exon Structure for
EREG
ECgene alternative splicing isoforms for
EREG

Expression for EREG Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EREG Gene

This gene is overexpressed in Esophagus - Mucosa (x10.3), Skin - Sun Exposed (Lower leg) (x7.1), Skin - Not Sun Exposed (Suprapubic) (x5.7), and Whole Blood (x4.5).

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



NURSA nuclear receptor signaling pathways regulating expression of EREG Gene:

EREG

SOURCE GeneReport for Unigene cluster for EREG Gene:

Hs.115263

mRNA Expression by UniProt/SwissProt for EREG Gene:

O14944-EREG_HUMAN
Tissue specificity: In normal adults, expressed predominantly in the placenta and peripheral blood leukocytes. High levels were detected in carcinomas of the bladder, lung, kidney and colon.

Evidence on tissue expression from TISSUES for EREG Gene

  • Intestine(2)
genes like me logo Genes that share expression patterns with EREG: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for EREG Gene

Orthologs for EREG Gene

This gene was present in the common ancestor of chordates.

Orthologs for EREG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EREG 34 35
  • 99.21 (n)
cow
(Bos Taurus)
Mammalia EREG 34 35
  • 87.63 (n)
dog
(Canis familiaris)
Mammalia EREG 34 35
  • 87.32 (n)
mouse
(Mus musculus)
Mammalia Ereg 34 16 35
  • 82.63 (n)
rat
(Rattus norvegicus)
Mammalia Ereg 34
  • 81.46 (n)
oppossum
(Monodelphis domestica)
Mammalia EREG 35
  • 63 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EREG 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves EREG 34 35
  • 60.4 (n)
lizard
(Anolis carolinensis)
Reptilia EREG 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ereg 34
  • 57.76 (n)
Species where no ortholog for EREG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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)
  • zebrafish (Danio rerio)

Evolution for EREG Gene

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

Paralogs for EREG Gene

No data available for Paralogs for EREG Gene

Variants for EREG Gene

Sequence variations from dbSNP and Humsavar for EREG Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
VAR_035833 A breast cancer sample
rs1000176130 -- 74,380,420(+) TGTTA(C/T)TTGTC intron-variant
rs1000219567 -- 74,374,658(+) CCAGG(A/G)CCCAC intron-variant
rs1000362457 -- 74,385,217(+) CAAAT(C/T)AGTGA utr-variant-3-prime
rs1000367802 -- 74,363,748(+) GCCTC(C/T)CAAAG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1009099 CNV gain 25217958
nsv290978 CNV deletion 16902084
nsv525980 CNV gain 19592680

Variation tolerance for EREG Gene

Residual Variation Intolerance Score: 39.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EREG Gene

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

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

Disorders for EREG Gene

MalaCards: The human disease database

(1) MalaCards diseases for EREG Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search EREG in MalaCards View complete list of genes associated with diseases

Relevant External Links for EREG

Genetic Association Database (GAD)
EREG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EREG
genes like me logo Genes that share disorders with EREG: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EREG Gene

Publications for EREG Gene

  1. Distribution of mRNA for human epiregulin, a differentially expressed member of the epidermal growth factor family. (PMID: 9337852) Toyoda H. … Morimoto S. (Biochem. J. 1997) 2 3 4 22 64
  2. Solution structure of epiregulin and the effect of its C-terminal domain for receptor binding affinity. (PMID: 14572630) Sato K. … Kawano K. (FEBS Lett. 2003) 3 4 22 64
  3. Epiregulin binds to epidermal growth factor receptor and ErbB-4 and induces tyrosine phosphorylation of epidermal growth factor receptor, ErbB-2, ErbB-3 and ErbB-4. (PMID: 9419975) Komurasaki T. … Morimoto S. (Oncogene 1997) 3 4 22 64
  4. Epiregulin: roles in normal physiology and cancer. (PMID: 24631357) Riese D.J. II … Cullum R.L. (Semin. Cell Dev. Biol. 2014) 3 4 64
  5. ErbB/HER ligands in human breast cancer, and relationships with their receptors, the bio-pathological features and prognosis. (PMID: 17962208) RAcvillion F. … Peyrat J.P. (Ann. Oncol. 2008) 3 22 64

Products for EREG Gene

Sources for EREG Gene

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