Gene Gene information from NCBI Gene database.
Entrez ID 374
Gene name Amphiregulin
Gene symbol AREG
Synonyms (NCBI Gene)
ARAREGBCRDGFSDGF
Chromosome 4
Chromosome location 4q13.3
Summary The protein encoded by this gene is a member of the epidermal growth factor family. It is an autocrine growth factor as well as a mitogen for astrocytes, Schwann cells and fibroblasts. It is related to epidermal growth factor (EGF) and transforming growth
miRNA miRNA information provided by mirtarbase database.
11
miRTarBase ID miRNA Experiments Reference
MIRT018541 hsa-miR-335-5p Microarray 18185580
MIRT437742 hsa-miR-34a-5p MicroarrayqRT-PCR 22815788
MIRT437873 hsa-miR-200a-3p ELISAImmunohistochemistryImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot 24762440
MIRT437873 hsa-miR-200a-3p ELISAImmunohistochemistryImmunoprecipitaionLuciferase reporter assayMicroarrayqRT-PCRWestern blot 24762440
MIRT2435438 hsa-miR-135a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
BRCA1 Repression 20103632
NFIL3 Unknown 1620116
SP1 Unknown 14742435
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
GO ID Ontology Definition Evidence Reference
GO:0005125 Function Cytokine activity IEA
GO:0005154 Function Epidermal growth factor receptor binding IBA
GO:0005154 Function Epidermal growth factor receptor binding IEA
GO:0005515 Function Protein binding IPI 19740107, 30083275, 32296183
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
104640 651 ENSG00000109321
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P15514
Protein name Amphiregulin (AR) (Colorectum cell-derived growth factor) (CRDGF)
Protein function Ligand of the EGF receptor/EGFR. Autocrine growth factor as well as a mitogen for a broad range of target cells including astrocytes, Schwann cells and fibroblasts.
PDB 2RNL
Family and domains
Sequence
MRAPLLPPAPVVLSLLILGSGHYAAGLDLNDTYSGKREPFSGDHSADGFEVTSRSEMSSG
SEISPVSEMPSSSEPSSGADYDYSEEYDNEPQIPGYIVDDSVRVEQVVKPPQNKTESENT
SDKPKRKKKGGKNGKNRRNRKKKNPCNAEFQNFCIHGECKYIEHLEAVTCKCQQEYFGER
CGEKSMKTHSMIDSSLSKIALAAIAAFMSAVILTAVAVITVQLRRQYVRKYEGEAEERKK
LRQENGNVHAIA
Sequence length 252
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
Hippo signaling pathway
Colorectal cancer
  PIP3 activates AKT signaling
Signaling by EGFR
GRB2 events in EGFR signaling
GAB1 signalosome
SHC1 events in EGFR signaling
EGFR downregulation
COPII-mediated vesicle transport
EGFR interacts with phospholipase C-gamma
Constitutive Signaling by Aberrant PI3K in Cancer
Inhibition of Signaling by Overexpressed EGFR
RAF/MAP kinase cascade
Cargo concentration in the ER
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Extra-nuclear estrogen signaling
Estrogen-dependent nuclear events downstream of ESR-membrane signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
46, XX Testicular Disorders of Sex Development 46, XX Gonadal Sex Reversal BEFREE 9329414
★☆☆☆☆
Found in Text Mining only
46, XY Disorders of Sex Development 46, XY disorder of sex development BEFREE 18391534, 20150575, 20583543, 21161538, 24186597, 25740850, 26197461, 27051040, 29051026, 29267169, 30064134, 30193409, 30815925
★☆☆☆☆
Found in Text Mining only
5-Alpha Reductase Deficiency 5-alpha reductase deficiency BEFREE 20132346, 6480803
★☆☆☆☆
Found in Text Mining only
Acne Acne BEFREE 19218788, 22829074, 31249215, 31251549
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 19218788, 22829074, 31249215, 31251549
★☆☆☆☆
Found in Text Mining only
Acoustic Neuroma Acoustic Neuroma BEFREE 23354516
★☆☆☆☆
Found in Text Mining only
Acquired porencephaly Acquired Porencephaly BEFREE 16061602
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 30395538
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 20670477
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 11850546
★☆☆☆☆
Found in Text Mining only