• Gene id: 374

Gene Summary

• Gene Symbol: AREG   Gene   UCSC   Ensembl
• Aliases: AR, AREGB, CRDGF, SDGF
• Gene name: amphiregulin
• Alternate names: amphiregulin, amphiregulin B, colorectum cell-derived growth factor, schwannoma-derived growth factor,
• Gene location: 4q13.3 (74445135: 74455004)     Exons: 6     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 104640

SNPs

rs775700619

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.73951138G>A
NC_000011.10   g.73951138G>C
NC_000011.9   g.73662183G>A
NC_000011.9   g.73662183G>C
NG_053111.1   g.5820G>A
NG_053111.1   g.5820G>C|SEQ=[G/A/C]|GENE=DNAJB13

rs754776389

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.73969996T>C
NC_000011.10   g.73969996T>G
NC_000011.9   g.73681041T>C
NC_000011.9   g.73681041T>G
NG_053111.1   g.24678T>C
NG_053111.1   g.24678T>G
NM_153614.3   c.833T>C
NM_153614.3   c.833T>G
NM_153614.2   c.833T>C
NM_153614.2   c.833T>G
XM_011545004.3  

Protein Summary

• Protein general information: P15514  
  • Name: Amphiregulin (AR) (Colorectum cell derived growth factor) (CRDGF)
  • Length: 252  
  • Mass: 27895
• Sequence:

  MRAPLLPPAPVVLSLLILGSGHYAAGLDLNDTYSGKREPFSGDHSADGFEVTSRSEMSSGSEISPVSEMPSSSEP
  SSGADYDYSEEYDNEPQIPGYIVDDSVRVEQVVKPPQNKTESENTSDKPKRKKKGGKNGKNRRNRKKKNPCNAEF
  QNFCIHGECKYIEHLEAVTCKCQQEYFGERCGEKSMKTHSMIDSSLSKIALAAIAAFMSAVILTAVAVITVQLRR
  QYVRKYEGEAEERKKLRQENGNVHAIA

• Structural information:
  • Protein Domains: (142..18-)
    (/note="EGF-like-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076"-)
  • Interpro: IPR013032  IPR000742  
  • Prosite: PS00022 PS50026
  • PDB: 2RNL
  • PDBsum: 2RNL
  • DIP: 5766
  • STRING: ENSP00000379097
• Other Databases: GeneCards:  AREG  Malacards:  AREG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005154	epidermal growth factor receptor binding	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0008284	positive regulation of cell population proliferation	IBA	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0008083	growth factor activity	IBA	molecular function
GO:0045741	positive regulation of epidermal growth factor-activated receptor activity	IBA	biological process
GO:0005125	cytokine activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0008083	growth factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008083	growth factor activity	TAS	molecular function
GO:0005615	extracellular space	TAS	cellular component
GO:0007267	cell-cell signaling	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	TAS	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0033116	endoplasmic reticulum-Golgi intermediate compartment membrane	TAS	cellular component
GO:0042059	negative regulation of epidermal growth factor receptor signaling pathway	TAS	biological process
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0012507	ER to Golgi transport vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0014009	glial cell proliferation	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0005154	epidermal growth factor receptor binding	IEA	molecular function
GO:0060750	epithelial cell proliferation involved in mammary gland duct elongation	IEA	biological process
GO:0060744	mammary gland branching involved in thelarche	IEA	biological process
GO:0060598	dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0051591	response to cAMP	IEA	biological process
GO:0045668	negative regulation of osteoblast differentiation	IEA	biological process
GO:0043434	response to peptide hormone	IEA	biological process
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0042327	positive regulation of phosphorylation	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0007173	epidermal growth factor receptor signaling pathway	IEA	biological process
GO:0060749	mammary gland alveolus development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0007173	epidermal growth factor receptor signaling pathway	IDA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0010838	positive regulation of keratinocyte proliferation	TAS	biological process
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005615	extracellular space	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa04010	MAPK signaling pathway
hsa04390	Hippo signaling pathway
hsa04012	ErbB signaling pathway
hsa05210	Colorectal cancer

Diseases

Associated diseases	References
Colorectal cancer	KEGG:H00020
Colorectal cancer	KEGG:H00020
Ductal carcinoma in situ	PMID:8543395
urinary bladder cancer	PMID:11507076
Breast cancer	PMID:16438846
Transitional cell carcinoma	PMID:16469638
invasive ductal carcinoma	PMID:11523048
prostate carcinoma in situ	PMID:14716741
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray