EREG epiregulin [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Stabilization of EREG via STT3B-mediated N-glycosylation is critical for PDL1 upregulation and immune evasion in head and neck squamous cell carcinoma.
Title: Stabilization of EREG via STT3B-mediated N-glycosylation is critical for PDL1 upregulation and immune evasion in head and neck squamous cell carcinoma.
The growth factor EPIREGULIN promotes basal progenitor cell proliferation in the developing neocortex.
Title: The growth factor EPIREGULIN promotes basal progenitor cell proliferation in the developing neocortex.
IGF2BP2 promotes cell invasion and epithelial-mesenchymal transition through Src-mediated upregulation of EREG in oral cancer.
Title: IGF2BP2 promotes cell invasion and epithelial-mesenchymal transition through Src-mediated upregulation of EREG in oral cancer.
MicroRNA-1179 targets Epiregulin (EREG) regulates the proliferation and metastasis of human multiple myeloma cells.
Title: MicroRNA-1179 targets Epiregulin (EREG) regulates the proliferation and metastasis of human multiple myeloma cells.
Two Cases of Biphasic Synovial Sarcoma With Expression of PAX8 and ER: A Diagnostic Pitfall.
Title: Two Cases of Biphasic Synovial Sarcoma With Expression of PAX8 and ER: A Diagnostic Pitfall.
Differentially expressed EREG and SPP1 are independent prognostic markers in cervical squamous cell carcinoma.
Title: Differentially expressed EREG and SPP1 are independent prognostic markers in cervical squamous cell carcinoma.
Epiregulin increases stemness-associated genes expression and promotes chemoresistance of non-small cell lung cancer via ERK signaling.
Title: Epiregulin increases stemness-associated genes expression and promotes chemoresistance of non-small cell lung cancer via ERK signaling.
MiR-192-5p suppresses M1 macrophage polarization via epiregulin (EREG) downregulation in gouty arthritis.
Title: MiR-192-5p suppresses M1 macrophage polarization via epiregulin (EREG) downregulation in gouty arthritis.
Immunohistochemical evaluation of the prognostic and predictive power of epidermal growth factor receptor ligand levels in patients with metastatic colorectal cancer.
Title: Immunohistochemical evaluation of the prognostic and predictive power of epidermal growth factor receptor ligand levels in patients with metastatic colorectal cancer.
p130Cas Is Correlated with EREG Expression and a Prognostic Factor Depending on Colorectal Cancer Stage and Localization Reducing FOLFIRI Efficacy.
Title: p130Cas Is Correlated with EREG Expression and a Prognostic Factor Depending on Colorectal Cancer Stage and Localization Reducing FOLFIRI Efficacy.

Submit: New GeneRIF Correction See all GeneRIFs (68)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic variants associated with breast size also influence breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481062

SHGC-67955 (e-PCR)
- UniSTS:25647

D8S2279 (e-PCR)
- UniSTS:473907

D11S3114 (e-PCR)
- UniSTS:152207

SHGC-56714 (e-PCR)
- UniSTS:71166

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables epidermal growth factor receptor binding	IBA Inferred from Biological aspect of Ancestor more info
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
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 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
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	PubMed
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 DNA-templated 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 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
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 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
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 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
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 plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: proepiregulin

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.