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    EREG epiregulin [ Homo sapiens (human) ]

    Gene ID: 2069, updated on 12-Sep-2021

    Summary

    Official Symbol
    EREGprovided by HGNC
    Official Full Name
    epiregulinprovided by HGNC
    Primary source
    HGNC:HGNC:3443
    See related
    Ensembl:ENSG00000124882 MIM:602061
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ER; Ep; EPR
    Summary
    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]
    Expression
    Biased expression in bone marrow (RPKM 51.6), esophagus (RPKM 7.6) and 3 other tissues See more
    Orthologs
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    Genomic context

    See EREG in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (74365145..74388749)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (75230862..75254466)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377276 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1828 Neighboring gene epithelial mitogen Neighboring gene amphiregulin Neighboring gene Sharpr-MPRA regulatory regions 3589 and 13401

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genetic variants associated with breast size also influence breast cancer risk.
    GeneReviews: Not available
    Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
    GeneReviews: Not available
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope transmembrane glycoprotein gp41 env A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of epiregulin (EREG) in peptide-treated PBMCs PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables epidermal growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables epidermal growth factor receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables epidermal growth factor receptor binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in animal organ morphogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cell-cell signaling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cytokine-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in epidermal growth factor receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in female meiotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in keratinocyte differentiation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in keratinocyte proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in luteinizing hormone signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mRNA transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of epithelial cell proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of smooth muscle cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of transcription, DNA-templated IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in oocyte maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ovarian cumulus expansion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ovulation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of DNA replication IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell population proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cytokine production IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cytokine production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epidermal growth factor-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of epidermal growth factor-activated receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of fibroblast proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of innate immune response ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of interleukin-6 production ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of mitotic nuclear division IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in positive regulation of mitotic nuclear division ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of phosphorylation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of phosphorylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in positive regulation of protein kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of smooth muscle cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    involved_in primary follicle stage ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in wound healing TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001432.3NP_001423.1  proepiregulin preproprotein

      See identical proteins and their annotated locations for NP_001423.1

      Status: REVIEWED

      Source sequence(s)
      AC021180, D30783
      Consensus CDS
      CCDS3564.1
      UniProtKB/Swiss-Prot
      O14944
      Related
      ENSP00000244869.2, ENST00000244869.3
      Conserved Domains (1) summary
      cl28647
      Location:64148
      PHA02887; EGF-like protein; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

      Range
      74365145..74388749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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