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AREG amphiregulin [ Homo sapiens (human) ]

Gene ID: 374, updated on 8-Jan-2023

Summary

Official Symbol
AREGprovided by HGNC
Official Full Name
amphiregulinprovided by HGNC
Primary source
HGNC:HGNC:651
See related
Ensembl:ENSG00000109321 MIM:104640; AllianceGenome:HGNC:651
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
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Genomic context

See AREG in Genome Data Viewer
Location:
4q13.3
Exon count:
6
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (74445136..74455005)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (77788795..77798664)
105.20220307 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 Neighboring gene uncharacterized LOC124900716

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

EBI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk.
EBI GWAS Catalog

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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables receptor ligand activity IDA
Inferred from Direct Assay
more info
PubMed 
enables transmembrane receptor protein tyrosine kinase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in ERBB2-EGFR signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
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
 

General protein information

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

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_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, Q5U026
    Related
    ENSP00000379097.3, ENST00000395748.8
    Conserved Domains (1) summary
    PHA02887
    Location:146186
    PHA02887; EGF-like protein; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    77788795..77798664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)