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EREG epiregulin [ Homo sapiens (human) ]

Gene ID: 2069, updated on 7-Jun-2020

Summary

Official Symbol
EREGprovided by HGNC
Official Full Name
epiregulinprovided by HGNC
Primary source
HGNC:HGNC:3443
See related
Ensembl:ENSG00000124882 MIM:602061
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

Genomic context

See EREG in Genome Data Viewer
Location:
4q13.3
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (74365145..74388749)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (75230860..75254477)

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

NHGRI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
NHGRI GWA Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
NHGRI GWA 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
epidermal growth factor receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epidermal growth factor receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
 
epidermal growth factor receptor binding TAS
Traceable Author Statement
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
ERBB2 signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
anatomical structure morphogenesis TAS
Traceable Author Statement
more info
PubMed 
angiogenesis IEA
Inferred from Electronic Annotation
more info
 
animal organ morphogenesis TAS
Traceable Author Statement
more info
PubMed 
cell-cell signaling IDA
Inferred from Direct Assay
more info
PubMed 
cytokine-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
epidermal growth factor receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epidermal growth factor receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
female meiotic nuclear division ISS
Inferred from Sequence or Structural Similarity
more info
 
keratinocyte differentiation TAS
Traceable Author Statement
more info
PubMed 
keratinocyte proliferation IDA
Inferred from Direct Assay
more info
PubMed 
luteinizing hormone signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
mRNA transcription IDA
Inferred from Direct Assay
more info
PubMed 
membrane organization TAS
Traceable Author Statement
more info
 
negative regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of epidermal growth factor receptor signaling pathway TAS
Traceable Author Statement
more info
 
negative regulation of epithelial cell proliferation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of smooth muscle cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
oocyte maturation ISS
Inferred from Sequence or Structural Similarity
more info
 
ovarian cumulus expansion ISS
Inferred from Sequence or Structural Similarity
more info
 
ovulation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of DNA replication IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA replication ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of cell division 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 IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cytokine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytokine production ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of epidermal growth factor-activated receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of epidermal growth factor-activated receptor activity ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of fibroblast proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of innate immune response ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of interleukin-6 biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of mitotic nuclear division IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of mitotic nuclear division ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
positive regulation of protein kinase B signaling TAS
Traceable Author Statement
more info
 
positive regulation of protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of smooth muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
primary follicle stage ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell motility TAS
Traceable Author Statement
more info
 
response to peptide hormone IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
 
wound healing TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
clathrin-coated vesicle 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 plasma membrane TAS
Traceable Author Statement
more info
PubMed 

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_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 Updated Annotation Release 109.

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