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    AREG amphiregulin [ Homo sapiens (human) ]

    Gene ID: 374, updated on 23-Nov-2021

    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
    NEW
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    Genomic context

    See AREG in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (74445136..74455005)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (75310853..75320722)

    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
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables epidermal growth factor receptor binding IBA
    Inferred from Biological aspect of Ancestor
    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 G protein-coupled receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell-cell signaling TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in epithelial cell proliferation involved in mammary gland duct elongation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glial cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland alveolus development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mammary gland branching involved in thelarche IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of osteoblast differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron projection development 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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 keratinocyte proliferation TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in response to cAMP IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucocorticoid IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hydrogen peroxide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to peptide hormone IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in ER to Golgi transport vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum-Golgi intermediate compartment 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 membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in 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)

    NEW Try the new Transcript table

    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 (1) summary
      PHA02887
      Location:146186
      PHA02887; EGF-like protein; Provisional

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

    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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