Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2069
Gene name Gene Name - the full gene name approved by the HGNC.
Epiregulin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EREG
Synonyms (NCBI Gene) Gene synonyms aliases
EPR, ER, Ep
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016703 hsa-miR-335-5p Microarray 18185580
MIRT022139 hsa-miR-124-3p Microarray 18668037
MIRT437629 hsa-miR-150-5p Microarray, qRT-PCR 22815788
MIRT437656 hsa-miR-181a-5p Microarray, qRT-PCR 22815788
MIRT437753 hsa-miR-93-5p Microarray, qRT-PCR 22815788
Transcription factors
Transcription factor Regulation Reference
KDM2A Repression 23074094
NFIL3 Unknown 1620116
WT1 Unknown 17430890
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0001525 Process Angiogenesis IEA
GO:0001550 Process Ovarian cumulus expansion ISS
GO:0001556 Process Oocyte maturation ISS
GO:0001819 Process Positive regulation of cytokine production IDA 10681561
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602061 3443 ENSG00000124882
Protein
UniProt ID O14944
Protein name Proepiregulin [Cleaved into: Epiregulin (EPR)]
Protein function Ligand of the EGF receptor/EGFR and ERBB4. Stimulates EGFR and ERBB4 tyrosine phosphorylation (PubMed:9419975). Contributes to inflammation, wound healing, tissue repair, and oocyte maturation by regulating angiogenesis and vascular remodeling a
PDB 1K36 , 1K37 , 5E8D , 5WB7 , 7LEN , 7LFR , 7LFS , 8HGP
Family and domains
Tissue specificity TISSUE SPECIFICITY: In normal adults, expressed predominantly in the placenta and peripheral blood leukocytes. High levels were detected in carcinomas of the bladder, lung, kidney and colon. {ECO:0000269|PubMed:9337852}.
Sequence
MTAGRRMEMLCAGRVPALLLCLGFHLLQAVLSTTVIPSCIPGESSDNCTALVQTEDNPRV
AQVSITKCSSDMNGYCLHGQCIYLVDMSQNYCRCEVGYTGVRCEHFFLTVHQPLSKEYVA
LTVILIILFLITVVGSTYYFCRWYRNRKSKEPKKEYERVTSGDPELPQV
Sequence length 169
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  MAPK signaling pathway
ErbB signaling pathway
PI3K-Akt signaling pathway
Colorectal cancer
  Signaling by ERBB2
Signaling by ERBB4
SHC1 events in ERBB2 signaling
PI3K events in ERBB4 signaling
SHC1 events in ERBB4 signaling
PIP3 activates AKT signaling
Signaling by EGFR
GRB2 events in EGFR signaling
GAB1 signalosome
SHC1 events in EGFR signaling
EGFR downregulation
GRB2 events in ERBB2 signaling
PI3K events in ERBB2 signaling
EGFR interacts with phospholipase C-gamma
Constitutive Signaling by Aberrant PI3K in Cancer
Inhibition of Signaling by Overexpressed EGFR
RAF/MAP kinase cascade
ERBB2 Regulates Cell Motility
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
ERBB2 Activates PTK6 Signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Downregulation of ERBB2 signaling
Extra-nuclear estrogen signaling
Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Signaling by ERBB2 KD Mutants
Signaling by ERBB2 TMD/JMD mutants
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Ovarian cancer Malignant neoplasm of ovary rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828
View all (31 more)
15313392
Unknown
Disease term Disease name Evidence References Source
Erythropoietic protoporphyria Erythropoietic Protoporphyria 19267999 ClinVar
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute Kidney Injury Associate 39370847
Adenocarcinoma Associate 10433957, 12907431, 21139866, 22964644
Adenocarcinoma Mucinous Associate 14991954
Adenocarcinoma Mucinous Stimulate 17245003
Adenocarcinoma of Lung Associate 22964644, 37880277
Adenomyoepithelioma Associate 31887226
Adenosarcoma Associate 35876683
Adenosarcoma of the uterus Associate 35876683
Adrenocortical Carcinoma Associate 33981288
Allergic Fungal Sinusitis Associate 28398769