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EREG epiregulin [ Homo sapiens (human) ]

Gene ID: 2069, updated on 13-May-2022

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
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (74365145..74388749)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (77708788..77732398)
105.20220307 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

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

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 
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 ERBB2-ERBB4 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in ERBB4-ERBB4 signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in activation of transmembrane receptor protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
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 IDA
Inferred from Direct Assay
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 
is_active_in extracellular space IDA
Inferred from Direct Assay
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)

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_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 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
    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)