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    AREG amphiregulin [ Homo sapiens (human) ]

    Gene ID: 374, updated on 20-Sep-2020

    Summary

    Official Symbol
    AREGprovided by HGNC
    Official Full Name
    amphiregulinprovided by HGNC
    Primary source
    HGNC:HGNC:651
    See related
    Ensembl:ENSG00000109321 MIM:104640
    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
    AR; SDGF; AREGB; CRDGF
    Summary
    The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth factor alpha (TGF-alpha). The protein interacts with the EGF/TGF-alpha receptor to promote the growth of normal epithelial cells, and it inhibits the growth of certain aggressive carcinoma cell lines. It also functions in mammary gland, oocyte and bone tissue development. This gene is associated with a psoriasis-like skin phenotype, and is also associated with other pathological disorders, including various types of cancers and inflammatory conditions. [provided by RefSeq, Apr 2014]
    Expression
    Biased expression in placenta (RPKM 177.3), bone marrow (RPKM 37.7) and 5 other tissues See more
    Orthologs

    Genomic context

    See AREG in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20200815 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (74445136..74455005)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (75310853..75320726)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr4.1828 Neighboring gene epiregulin Neighboring gene Sharpr-MPRA regulatory regions 3589 and 13401 Neighboring gene uncharacterized LOC107986229

    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 study identifies multiple loci associated with both mammographic density and breast cancer risk.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif upregulates the expression of amphiregulin (AREG) in Vif-expression T cells 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

    Clone Names

    • FLJ13387, MGC13647

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cytokine activity IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    growth factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    COPII vesicle coating TAS
    Traceable Author Statement
    more info
     
    ER to Golgi vesicle-mediated transport TAS
    Traceable Author Statement
    more info
     
    G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    MAPK cascade TAS
    Traceable Author Statement
    more info
     
    cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    epidermal growth factor receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    epidermal growth factor receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    epithelial cell proliferation involved in mammary gland duct elongation IEA
    Inferred from Electronic Annotation
    more info
     
    glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    mammary gland branching involved in thelarche IEA
    Inferred from Electronic Annotation
    more info
     
    membrane organization TAS
    Traceable Author Statement
    more info
     
    negative regulation of epidermal growth factor receptor signaling pathway TAS
    Traceable Author Statement
    more info
     
    negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cell proliferation IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of epidermal growth factor-activated receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of keratinocyte proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    positive regulation of protein kinase B signaling TAS
    Traceable Author Statement
    more info
     
    response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    Golgi membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    clathrin-coated vesicle membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum-Golgi intermediate compartment membrane TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    amphiregulin
    Names
    amphiregulin B
    colorectum cell-derived growth factor
    schwannoma-derived growth factor

    NCBI Reference Sequences (RefSeq)

    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_001657.4NP_001648.1  amphiregulin preproprotein

      See identical proteins and their annotated locations for NP_001648.1

      Status: REVIEWED

      Source sequence(s)
      AW014754, BC009799
      Consensus CDS
      CCDS3565.1
      UniProtKB/Swiss-Prot
      P15514
      Related
      ENSP00000379097.3, ENST00000395748.8
      Conserved Domains (2) summary
      cl11433
      Location:191247
      DivIC; Septum formation initiator
      cl28647
      Location:146186
      PHA02887; EGF-like protein; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

    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
      74445136..74455005
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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