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EREG epiregulin [ Homo sapiens (human) ]

Gene ID: 2069, updated on 10-Dec-2024

Summary

Official Symbol
EREGprovided by HGNC
Official Full Name
epiregulinprovided by HGNC
Primary source
HGNC:HGNC:3443
See related
Ensembl:ENSG00000124882 MIM:602061; AllianceGenome:HGNC:3443
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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (74365145..74388749)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (77708788..77732398)
RS_2024_09 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 LOC105377277 Neighboring gene methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2 like Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:75022974-75023732 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:75023733-75024489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21614 Neighboring gene Sharpr-MPRA regulatory region 11080 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15477 Neighboring gene uncharacterized LOC105377276 Neighboring gene CRISPRi-validated cis-regulatory element chr4.1828 Neighboring gene epithelial mitogen Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:75239895-75241094 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:75278865-75279391 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:75279392-75279917 Neighboring gene MPRA-validated peak5058 silencer Neighboring gene amphiregulin Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:75368878-75370077 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 scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
EBI GWAS Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
EBI GWAS Catalog

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

General gene information

Gene Ontology Provided by GOA

Items 1 - 25 of 42
Process Evidence Code Pubs
involved_in ERBB2-EGFR signaling pathway PubMed 
involved_in ERBB2-ERBB4 signaling pathway PubMed 
involved_in ERBB4-ERBB4 signaling pathway PubMed 
involved_in anatomical structure morphogenesis PubMed 
involved_in angiogenesis  
involved_in animal organ morphogenesis PubMed 
involved_in cell-cell signaling PubMed 
involved_in cytokine-mediated signaling pathway PubMed 
involved_in epidermal growth factor receptor signaling pathway  
involved_in epidermal growth factor receptor signaling pathway PubMed 
involved_in epidermal growth factor receptor signaling pathway PubMed 
involved_in female meiotic nuclear division  
involved_in keratinocyte differentiation PubMed 
involved_in keratinocyte proliferation PubMed 
involved_in luteinizing hormone signaling pathway  
involved_in mRNA transcription PubMed 
involved_in negative regulation of DNA-templated transcription PubMed 
involved_in negative regulation of cell population proliferation  
involved_in negative regulation of epithelial cell proliferation PubMed 
involved_in negative regulation of smooth muscle cell differentiation PubMed 
involved_in oocyte maturation  
involved_in ovarian cumulus expansion  
involved_in ovulation  
involved_in positive regulation of DNA replication PubMed 
involved_in positive regulation of DNA replication PubMed 
involved_in positive regulation of cell division  
involved_in positive regulation of cell population proliferation  
involved_in positive regulation of cell population proliferation PubMed 
involved_in positive regulation of cell population proliferation  
involved_in positive regulation of cytokine production PubMed 
involved_in positive regulation of cytokine production  
involved_in positive regulation of fibroblast proliferation PubMed 
involved_in positive regulation of innate immune response  
involved_in positive regulation of interleukin-6 production  
involved_in positive regulation of mitotic nuclear division  
involved_in positive regulation of mitotic nuclear division PubMed 
involved_in positive regulation of phosphorylation PubMed 
involved_in positive regulation of protein kinase activity PubMed 
involved_in positive regulation of smooth muscle cell proliferation PubMed 
involved_in primary follicle stage  
involved_in response to peptide hormone  
involved_in wound healing PubMed 
Items 1 - 25 of 42
Component Evidence Code Pubs
located_in clathrin-coated endocytic vesicle membrane  
located_in extracellular region  
is_active_in extracellular space  
is_active_in extracellular space PubMed 
located_in extracellular space PubMed 
located_in plasma membrane 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
    B2RC66, O14944, Q6FH69
    Related
    ENSP00000244869.2, ENST00000244869.3
    Conserved Domains (1) summary
    cl28647
    Location:64148
    PHA02887; EGF-like protein; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    77708788..77732398
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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