EGFR: Polycystic Ovarian Syndrome Database

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EGFR

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

EGFR

Aliases

ERBB, ERBB1, HER1, NISBD2, PIG61, mENA

Entrez Gene ID

1956

Gene Name

Epidermal growth factor receptor

Chromosomal Location

7p11.2

HGNC ID

HGNC:3236

Summary

The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor. Binding of the protein to a ligand induces receptor dimerization and tyrosine autophosphorylation and leads to cell proliferation. Mutations in this gene are associated with lung cancer. [provided by RefSeq, Jun 2016]

RefSeq DNA

NG_007726.3

RefSeq mRNA

NM_005228.5, NM_201282.2, NM_201283.1, NM_201284.2, NM_001346897.2, NM_001346898.2, NM_001346899.1, NM_001346900.2, NM_001346941.2, NM_005228.3

e!Ensembl

Gene	ENSG00000146648
Transcript	ENST00000455089, ENST00000342916, ENST00000344576, ENST00000420316, ENST00000275493, ENST00000450046, ENST00000454757, ENST00000638463
Protein	ENSP00000415559, ENSP00000342376, ENSP00000345973, ENSP00000413843, ENSP00000275493, ENSP00000413354, ENSP00000395243, ENSP00000492462

Gene Ontology (GO)

Show/Hide all(96 )

GO ID	Ontology	Function	Evidence	Reference
GO:0001503	Biological process	Ossification	NAS	12925580
GO:0001934	Biological process	Positive regulation of protein phosphorylation	IDA	20551055
GO:0007165	Biological process	Signal transduction	IDA	10572067
GO:0007166	Biological process	Cell surface receptor signaling pathway	IDA	7736574
GO:0007169	Biological process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007173	Biological process	Epidermal growth factor receptor signaling pathway	IDA	7736574, 12435727
GO:0007173	Biological process	Epidermal growth factor receptor signaling pathway	IMP	20878056
GO:0007202	Biological process	Activation of phospholipase C activity	TAS	12435727
GO:0008283	Biological process	Cell proliferation	IDA	17115032
GO:0008284	Biological process	Positive regulation of cell proliferation	IBA	21873635
GO:0008284	Biological process	Positive regulation of cell proliferation	IDA	7736574
GO:0008284	Biological process	Positive regulation of cell proliferation	IMP	27057632
GO:0010750	Biological process	Positive regulation of nitric oxide mediated signal transduction	IDA	12828935
GO:0014066	Biological process	Regulation of phosphatidylinositol 3-kinase signaling	IMP	26514923
GO:0018108	Biological process	Peptidyl-tyrosine phosphorylation	IDA	22732145
GO:0030154	Biological process	Cell differentiation	IBA	21873635
GO:0030307	Biological process	Positive regulation of cell growth	IDA	15467833
GO:0030335	Biological process	Positive regulation of cell migration	IMP	12435727, 25678558
GO:0033138	Biological process	Positive regulation of peptidyl-serine phosphorylation	IMP	20878056
GO:0034614	Biological process	Cellular response to reactive oxygen species	IMP	26514923
GO:0038083	Biological process	Peptidyl-tyrosine autophosphorylation	IMP	20878056
GO:0038083	Biological process	Peptidyl-tyrosine autophosphorylation	TAS	22732145
GO:0042177	Biological process	Negative regulation of protein catabolic process	IDA	17115032
GO:0042327	Biological process	Positive regulation of phosphorylation	IDA	15082764
GO:0043006	Biological process	Activation of phospholipase A2 activity by calcium-mediated signaling	TAS	12435727
GO:0043066	Biological process	Negative regulation of apoptotic process	IBA	21873635
GO:0043066	Biological process	Negative regulation of apoptotic process	IMP	18070883
GO:0043406	Biological process	Positive regulation of MAP kinase activity	IDA	10572067
GO:0045737	Biological process	Positive regulation of cyclin-dependent protein serine/threonine kinase activity	IMP	18483258
GO:0045739	Biological process	Positive regulation of DNA repair	IDA	17115032
GO:0045740	Biological process	Positive regulation of DNA replication	IDA	17115032
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IMP	26514923
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	20551055
GO:0046328	Biological process	Regulation of JNK cascade	IMP	26514923
GO:0046777	Biological process	Protein autophosphorylation	IMP	18070883
GO:0050679	Biological process	Positive regulation of epithelial cell proliferation	IBA	21873635
GO:0050679	Biological process	Positive regulation of epithelial cell proliferation	IDA	10572067
GO:0050730	Biological process	Regulation of peptidyl-tyrosine phosphorylation	IMP	12435727
GO:0050999	Biological process	Regulation of nitric-oxide synthase activity	IDA	12828935
GO:0051205	Biological process	Protein insertion into membrane	TAS	12435727
GO:0051897	Biological process	Positive regulation of protein kinase B signaling	IMP	17655843
GO:0070141	Biological process	Response to UV-A	IDA	18483258
GO:0070372	Biological process	Regulation of ERK1 and ERK2 cascade	IMP	26514923
GO:0070374	Biological process	Positive regulation of ERK1 and ERK2 cascade	IDA	20551055
GO:0070374	Biological process	Positive regulation of ERK1 and ERK2 cascade	IMP	21673316
GO:0071276	Biological process	Cellular response to cadmium ion	IMP	26514923
GO:0071392	Biological process	Cellular response to estradiol stimulus	IDA	20551055
GO:0090263	Biological process	Positive regulation of canonical Wnt signaling pathway	IMP	20302655
GO:0098609	Biological process	Cell-cell adhesion	IMP	12435727
GO:1900020	Biological process	Positive regulation of protein kinase C activity	IDA	22732145
GO:1900087	Biological process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	18483258
GO:1901224	Biological process	Positive regulation of NIK/NF-kappaB signaling	IMP	26514923
GO:1903078	Biological process	Positive regulation of protein localization to plasma membrane	IDA	22732145
GO:1903800	Biological process	Positive regulation of production of miRNAs involved in gene silencing by miRNA	IMP	21673316
GO:1905208	Biological process	Negative regulation of cardiocyte differentiation	IMP	23069713
GO:0005615	Cellular component	Extracellular space	NAS	9103388
GO:0005634	Cellular component	Nucleus	IDA	12828935, 17115032, 20551055
GO:0005737	Cellular component	Cytoplasm	IDA	7588596, 12435727, 22298428
GO:0005768	Cellular component	Endosome	IDA	14702346, 17182860, 22732145
GO:0005768	Cellular component	Endosome	IDA	16554368
GO:0005886	Cellular component	Plasma membrane	IDA	15465819, 22298428, 22732145
GO:0005887	Cellular component	Integral component of plasma membrane	IBA	21873635
GO:0005925	Cellular component	Focal adhesion	HDA	21423176
GO:0009925	Cellular component	Basal plasma membrane	IBA	21873635
GO:0009986	Cellular component	Cell surface	IDA	25666625
GO:0010008	Cellular component	Endosome membrane	IDA	22719997
GO:0016020	Cellular component	Membrane	IDA	12435727
GO:0016323	Cellular component	Basolateral plasma membrane	IDA	12646923
GO:0031901	Cellular component	Early endosome membrane	IDA	17714434
GO:0032991	Cellular component	Protein-containing complex	IDA	20878056
GO:0043235	Cellular component	Receptor complex	IBA	21873635
GO:0043235	Cellular component	Receptor complex	IDA	23382219
GO:0045121	Cellular component	Membrane raft	IDA	12009895
GO:0097489	Cellular component	Multivesicular body, internal vesicle lumen	IDA	17714434
GO:0003682	Molecular function	Chromatin binding	IDA	20551055
GO:0003690	Molecular function	Double-stranded DNA binding	NAS	6325948
GO:0004709	Molecular function	MAP kinase kinase kinase activity	NAS	15542601
GO:0004713	Molecular function	Protein tyrosine kinase activity	IDA	17115032, 17599051
GO:0004713	Molecular function	Protein tyrosine kinase activity	IMP	14702346, 20878056
GO:0004713	Molecular function	Protein tyrosine kinase activity	TAS	16076471
GO:0004714	Molecular function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0004888	Molecular function	Transmembrane signaling receptor activity	IDA	7736574
GO:0005006	Molecular function	Epidermal growth factor-activated receptor activity	IBA	21873635
GO:0005006	Molecular function	Epidermal growth factor-activated receptor activity	IDA	12435727, 17115032
GO:0005006	Molecular function	Epidermal growth factor-activated receptor activity	IMP	22732145
GO:0005006	Molecular function	Epidermal growth factor-activated receptor activity	NAS	2790960, 6325948
GO:0005515	Molecular function	Protein binding	IPI	2176151, 2790960, 7518560, 7542744, 7657591, 7685104, 7693694, 7797556, 7993895, 8034616, 8305738, 8621392, 8887653, 8940013, 9020117, 9050838, 9355745, 9419975, 9544989, 9852145, 10026169, 10229072, 10572067, 10805725, 11279102, 11896612, 12070153, 12297049, 12297050, 12577067, 12620
GO:0019899	Molecular function	Enzyme binding	IPI	12009895
GO:0019903	Molecular function	Protein phosphatase binding	IPI	15899872, 28759036
GO:0030235	Molecular function	Nitric-oxide synthase regulator activity	IDA	12828935
GO:0031625	Molecular function	Ubiquitin protein ligase binding	IPI	23418353
GO:0042802	Molecular function	Identical protein binding	IPI	16777603, 17148612, 18042729, 19563760, 19650109, 20007378, 20029029, 20359299, 21278786, 21480528, 21482778, 22232519, 22579287, 23273428, 23374349, 23436906, 23636329, 24135280
GO:0045296	Molecular function	Cadherin binding	HDA	25468996
GO:0046982	Molecular function	Protein heterodimerization activity	IDA	10572067
GO:0048408	Molecular function	Epidermal growth factor binding	IBA	21873635
GO:0051015	Molecular function	Actin filament binding	IDA	14702346

Protein Information

Protein Name

Epidermal growth factor receptor, avian erythroblastic leukemia viral (v-erb-b) oncogene homolog, cell growth inhibiting protein 40, cell proliferation-inducing protein 61, epidermal growth factor receptor tyrosine kinase domain, erb-b2 receptor tyrosine kinase 1, proto-oncogene c-ErbB-1, receptor tyrosine-protein kinase erbB-1

Function

Receptor tyrosine kinase binding ligands of the EGF family and activating several signaling cascades to convert extracellular cues into appropriate cellular responses (PubMed:2790960, PubMed:10805725, PubMed:27153536). Known ligands include EGF, TGFA/TGF-alpha, AREG, epigen/EPGN, BTC/betacellulin, epiregulin/EREG and HBEGF/heparin-binding EGF (PubMed:2790960, PubMed:7679104, PubMed:8144591, PubMed:9419975, PubMed:15611079, PubMed:12297049, PubMed:27153536, PubMed:20837704). Ligand binding triggers receptor homo- and/or heterodimerization and autophosphorylation on key cytoplasmic residues. The phosphorylated receptor recruits adapter proteins like GRB2 which in turn activates complex downstream signaling cascades. Activates at least 4 major downstream signaling cascades including the RAS-RAF-MEK-ERK, PI3 kinase-AKT, PLCgamma-PKC and STATs modules (PubMed:27153536). May also activate the NF-kappa-B signaling cascade (PubMed:11116146). Also directly phosphorylates other proteins like RGS16, activating its GTPase activity and probably coupling the EGF receptor signaling to the G protein-coupled receptor signaling (PubMed:11602604). Also phosphorylates MUC1 and increases its interaction with SRC and CTNNB1/beta-catenin (PubMed:11483589). Plays a role in enhancing learning and memory performance (By similarity). .; Isoform 2 may act as an antagonist of EGF action.; (Microbial infection) Acts as a receptor for hepatitis C virus (HCV) in hepatocytes and facilitates its cell entry. Mediates HCV entry by promoting the formation of the CD81-CLDN1 receptor complexes that are essential for HCV entry and by enhancing membrane fusion of cells expressing HCV envelope glycoproteins.

Refseq Proteins

NP_005219.2, NP_958439.1, NP_958440.1, NP_958441.1, NP_001333826.1, NP_001333827.1, NP_001333828.1, NP_001333829.1, NP_001333870.1

UniProt

P00533

PDB

3PFV, 3OP0, 3VRP, 3VRR, 3BUO, 3OB2, 1DNQ, 1DNR, 1IVO, 1M14, 1M17, 1MOX, 1NQL, 1XKK, 1YY9, 1Z9I, 2EB2, 2EB3, 2EXP, 2EXQ, 2GS2, 2GS6, 2GS7, 2ITN, 2ITO, 2ITP, 2ITQ, 2ITT, 2ITU, 2ITV, 2ITW, 2ITX, 2ITY, 2ITZ, 2J5E, 2J5F, 2J6M, 2JIT, 2JIU, 2JIV, 2KS1, 2M0B, 2M20, 2N5S, 2RF9, 2RFD, 2RFE, 2RGP, 3B2U, 3B2V, 3BEL,

Pathways
	KEGG	Reactome
	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway ErbB signaling pathway Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway HIF-1 signaling pathway FoxO signaling pathway Phospholipase D signaling pathway Endocytosis PI3K-Akt signaling pathway Focal adhesion Adherens junction Gap junction JAK-STAT signaling pathway Regulation of actin cytoskeleton GnRH signaling pathway Estrogen signaling pathway Oxytocin signaling pathway Relaxin signaling pathway Parathyroid hormone synthesis, secretion and action Cushing syndrome Epithelial cell signaling in Helicobacter pylori infection Hepatitis C Human cytomegalovirus infection Human papillomavirus infection Pathways in cancer Proteoglycans in cancer MicroRNAs in cancer Colorectal cancer Pancreatic cancer Endometrial cancer Glioma Prostate cancer Melanoma Bladder cancer Non-small cell lung cancer Breast cancer Hepatocellular carcinoma Gastric cancer Central carbon metabolism in cancer Choline metabolism in cancer PD-L1 expression and PD-1 checkpoint pathway in cancer	Signaling by ERBB2 Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants Signaling by ERBB4 SHC1 events in ERBB2 signaling PIP3 activates AKT signaling Signaling by EGFR GRB2 events in EGFR signaling GAB1 signalosome SHC1 events in EGFR signaling EGFR downregulation PI3K events in ERBB2 signaling EGFR interacts with phospholipase C-gamma EGFR Transactivation by Gastrin Constitutive Signaling by Aberrant PI3K in Cancer Signal transduction by L1 Constitutive Signaling by EGFRvIII 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 PTK6 promotes HIF1A stabilization Downregulation of ERBB2 signaling TFAP2 (AP-2) family regulates transcription of growth factors and their receptors Extra-nuclear estrogen signaling NOTCH3 Activation and Transmission of Signal to the Nucleus HCMV Early Events Estrogen-dependent nuclear events downstream of ESR-membrane signaling Signaling by ERBB2 KD Mutants Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants

Interactions

STRING	MINT	IntAct
ENSP00000331544	P23142	P23142

View interactions

Associated Diseases

Show/Hide all(10 )

Disease group	Disease Name	References
Cardiovascular Diseases
Cardiovascular Diseases	Cardiomyopathy	18599591
Digestive System Diseases
Digestive System Diseases	Intestinal Polyposis	25200834
Endocrine System Diseases
	Diabetes Mellitus	22238402
	PCOS	29030491
Immune System Diseases
Immune System Diseases	Inflammatory Skin And Bowel Disease	24691054
Neoplasms
	Lung Cancer	25157968, 19147750, 16863509, 19096302, 23800712, 15118073, 15788655, 21531810, 15710947, 16011858, 20522446, 21841502, 16205628, 18199554, 16533793, 17653080, 19671738, 15118125, 18458038, 18628075, 18676761, 19922469, 15738541, 16187797, 18450321, 20479403, 15329413, 18176089, 215, 20934974, 19336973, 18927287, 27935865, 23523951, 21541241, 29106415, 16043828, 22753918, 23102728, 26619011, 20837450, 27032653, 22071784, 22135231, 25741868
	Head Neoplasms	23917044, 15342401, 12942316, 20415598, 25157968, 26619011, 21531084
	Adenocarcinoma	21541241, 22042947, 20934974, 2523869, 27720938
	Breast Cancer	19075277, 18768436, 16950593, 23867902, 20135347, 20941507
	Ovarian Cancer	16211241, 21909139
	Prostate cancer	17914592, 15302576, 17136230, 25157968
	Central Nervous System Neoplasms	21531791, 28346443, 26424050
	Cervical Cancer	18703609, 20859196, 21329967
	Head and Neck Neoplasms	21274259, 24934779, 23578570, 12942316, 23917044, 15342401
	Stomach Cancer	15723263, 22042947, 21173787
	Digestive Track Neoplasms	23917044, 12942316, 15342401
	Glioblastoma	26455392, 19204207, 23917401, 26619011
	Carcinoma	22042947, 22948846, 12942316, 25157968, 15302576, 21541241, 2523869, 20934974, 27720938
	Glioblastoma Multiforme	19204207, 23917401, 26455392, 26424050, 28346443
	Brain Neoplasms	17177598, 26619011
	Rectal Neoplasms	16839708
	Esophagus Neoplasm	21947696, 25157968, 16707764, 21298351, 22042947, 21468131
	Papilloma	8603490
	Colorectal Cancer	17575224, 18998757, 22270724
	Intestinal Polyposis	25200834
	Cribriform Carcinoma	27720938, 22042947, 21541241, 20934974, 2523869
	Pancreatic Neoplasm	27720938
	Endometrial Cancer	18703609, 21329967, 20859196, 22885469
	Cholangiocarcinoma	17341899
	Colonic Neoplasms	25200834, 14569062
	Gall Bladder Cancer	24997986
	Nasopharyngeal Cancer	21786012
	Brain Stem Glioma	26619011
	Neck Neoplasms	15342401, 12942316, 23917044
	Lipoma	27631514
	Gastric Cancer	15723263, 21173787, 22042947
	Liver Cancer	9029167
	Bile Duct Cancer	17341899
	Adrenal Cancer	23585556
	Bladder Cancer	11723127, 23523951
	Mesothelioma	21787763
	Osteosarcoma	22235915
	Intrahepatic Cholangiocarcinoma	17341899
	Extrahepatic Cholangiocarcinoma	17341899
	Anaplastic Carcinoma	15302576
	Vulvar Cancer	24746196, 27329249, 11262056, 24048714, 26171917, 22128196, 18768215, 15365562, 19514842, 2995967, 2998607
Nervous System Diseases
Nervous System Diseases	Arteriovenous Malformations, Cerebral	25741868
Psychiatric/Brain disorders
	Bipolar Disorder	18317468
	Mental Depression	21807767
Renal Disorder
	Kidney Failure	14638913
	Kidney Insufficiency	14638913
	Polycystic Kidney Diseases	9486961
Reproductive disorders
	Endometriosis	21063030
	Endometrioma	21063030
	Preeclampsia	26214307
Skin and Connective Tissue Diseases
	Chloracne	21237254
	Dermatitis	27206134

References

PMID: 29030491

Autophagy is activated in the ovarian tissue of polycystic ovary syndrome.

Li Da, You Yue, Bi Fang-Fang, Zhang Tie-Ning, Jiao Jiao, Wang Tian-Ren, Zhou Yi-Ming, Shen Zi-Qi, Wang Xiu-Xia, Yang Qing

Center of Reproductive MedicineShengjing Hospital of China Medical University, Shenyang, China.| Department of Obstetrics and GynecologyShengjing Hospital of China Medical University, Shenyang, China.| Department of Obstetrics and GynecologyShengjing Hospital of China Medical University, Shenyang, China.| Department of PediatricsShengjing Hospital of China Medical University, Shenyang, China.| Center of Reproductive MedicineShengjing Hospital of China Medical University, Shenyang, China.| Center of Reproductive MedicineShengjing Hospital of China Medical University, Shenyang, China.| Department of ObstetricsGynecology, and Reproductive Sciences, Yale School of Medicine, New Haven, Connecticut, USA.| Department of MedicineBrigham and Women's Hospital, Harvard Institutes of Medicine, Harvard Medical School, Boston, Massachusetts, USA.| Center of Reproductive MedicineShengjing Hospital of China Medical University, Shenyang, China.| Center of Reproductive MedicineShengjing Hospital of China Medical University, Shenyang, China yangq@sj-hospital.org wangxxsj@sina.cn.| Department of Obstetrics and GynecologyShengjing Hospital of China Medical University, Shenyang, China yangq@sj-hospital.org wangxxsj@sina.cn.

Reproduction. 2018 Jan;155(1):85-92. doi: 10.1530/REP-17-0499. Epub 2017 Oct 13.

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