ERBB2: Polycystic Ovarian Syndrome Database

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ERBB2

Gene Information

Gene Ontology (GO)

Protein Information

Associated Diseases

Pathways

References

Gene Information

Gene Symbol

ERBB2

Aliases

CD340, HER-2, HER-2/neu, HER2, MLN 19, NEU, NGL, TKR1

Entrez Gene ID

2064

Gene Name

Erb-b2 receptor tyrosine kinase 2

Chromosomal Location

17q12

HGNC ID

HGNC:3430

Summary

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth factors. However, it does bind tightly to other ligand-bound EGF receptor family members to form a heterodimer, stabilizing ligand binding and enhancing kinase-mediated activation of downstream signalling pathways, such as those involving mitogen-activated protein kinase and phosphatidylinositol-3 kinase. Allelic variations at amino acid positions 654 and 655 of isoform a (positions 624 and 625 of isoform b) have been reported, with the most common allele, Ile654/Ile655, shown here. Amplification and/or overexpression of this gene has been reported in numerous cancers, including breast and ovarian tumors. Alternative splicing results in several additional transcript variants, some encoding different isoforms and others that have not been fully characterized. [provided by RefSeq, Jul 2008]

RefSeq DNA

NG_007503.1

RefSeq mRNA

NR_110535.1, NM_001289937.1, NM_001005862.2, NM_004448.3, NM_001289938.1, NM_001289936.1

e!Ensembl

Gene	ENSG00000141736
Transcript	ENST00000584601, ENST00000578199, ENST00000445658, ENST00000584450, ENST00000582648, ENST00000578373, ENST00000269571, ENST00000578709, ENST00000578502, ENST00000582818, ENST00000580074, ENST00000406381, ENST00000541774
Protein	ENSP00000462438, ENSP00000462808, ENSP00000404047, ENSP00000463714, ENSP00000462024, ENSP00000463427, ENSP00000269571, ENSP00000463719, ENSP00000464420, ENSP00000464252, ENSP00000463002, ENSP00000385185, ENSP00000446466

Gene Ontology (GO)

Show/Hide all(52 )

GO ID	Ontology	Function	Evidence	Reference
GO:0006468	Biological process	Protein phosphorylation	TAS	10851066
GO:0007165	Biological process	Signal transduction	IDA	10572067
GO:0007166	Biological process	Cell surface receptor signaling pathway	IDA	9685399
GO:0007167	Biological process	Enzyme linked receptor protein signaling pathway	TAS	9590694
GO:0007169	Biological process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007169	Biological process	Transmembrane receptor protein tyrosine kinase signaling pathway	IDA	7514177
GO:0007169	Biological process	Transmembrane receptor protein tyrosine kinase signaling pathway	TAS	7556068
GO:0008284	Biological process	Positive regulation of cell proliferation	IBA	21873635
GO:0014065	Biological process	Phosphatidylinositol 3-kinase signaling	IDA	7556068
GO:0030182	Biological process	Neuron differentiation	IBA	21873635
GO:0030307	Biological process	Positive regulation of cell growth	IMP	21555369
GO:0032886	Biological process	Regulation of microtubule-based process	IDA	20937854
GO:0035556	Biological process	Intracellular signal transduction	IDA	19372587
GO:0042060	Biological process	Wound healing	IDA	12646923
GO:0043406	Biological process	Positive regulation of MAP kinase activity	IDA	10572067
GO:0043410	Biological process	Positive regulation of MAPK cascade	IBA	21873635
GO:0045727	Biological process	Positive regulation of translation	IMP	21555369
GO:0045765	Biological process	Regulation of angiogenesis	NAS	15609325
GO:0045785	Biological process	Positive regulation of cell adhesion	IDA	7556068
GO:0045943	Biological process	Positive regulation of transcription by RNA polymerase I	IMP	21555369
GO:0046777	Biological process	Protein autophosphorylation	IDA	7556068
GO:0050679	Biological process	Positive regulation of epithelial cell proliferation	IDA	10572067
GO:0070372	Biological process	Regulation of ERK1 and ERK2 cascade	IMP	16314522
GO:0071363	Biological process	Cellular response to growth factor stimulus	IDA	20010870
GO:0071364	Biological process	Cellular response to epidermal growth factor stimulus	IMP	27134172
GO:0090314	Biological process	Positive regulation of protein targeting to membrane	IDA	20010870
GO:0005634	Cellular component	Nucleus	IDA	16314522, 21555369
GO:0005886	Cellular component	Plasma membrane	IDA	20010870
GO:0005886	Cellular component	Plasma membrane	NAS	12000754
GO:0005887	Cellular component	Integral component of plasma membrane	IBA	21873635
GO:0009925	Cellular component	Basal plasma membrane	IBA	21873635
GO:0010008	Cellular component	Endosome membrane	IDA	16314522
GO:0016021	Cellular component	Integral component of membrane	NAS	15609325
GO:0016323	Cellular component	Basolateral plasma membrane	IDA	12646923
GO:0043235	Cellular component	Receptor complex	IBA	21873635
GO:0043235	Cellular component	Receptor complex	IDA	7514177, 23382219
GO:0043235	Cellular component	Receptor complex	TAS	7556068
GO:0001042	Molecular function	RNA polymerase I core binding	IDA	21555369
GO:0004713	Molecular function	Protein tyrosine kinase activity	IDA	7556068
GO:0004713	Molecular function	Protein tyrosine kinase activity	IGI	7556068
GO:0004714	Molecular function	Transmembrane receptor protein tyrosine kinase activity	IBA	21873635
GO:0004714	Molecular function	Transmembrane receptor protein tyrosine kinase activity	IDA	7514177
GO:0004888	Molecular function	Transmembrane signaling receptor activity	IDA	7514177
GO:0005515	Molecular function	Protein binding	IPI	7592681, 9079677, 9705354, 10572067, 10805725, 11940572, 12061724, 12122014, 12975581, 15657067, 16273093, 16314522, 16516204, 16767099, 16843263, 17148612, 17426253, 18719096, 19167335, 19372587, 19411071, 19650109, 19933325, 20010870, 20227043, 20558745, 20700126, 20876300, 210344
GO:0008022	Molecular function	Protein C-terminus binding	IPI	15520177
GO:0019838	Molecular function	Growth factor binding	IDA	7514177
GO:0019903	Molecular function	Protein phosphatase binding	IPI	15899872
GO:0042802	Molecular function	Identical protein binding	IPI	16843263, 17148612, 19650109, 21203579, 21255571, 21480528, 22733765, 23436906
GO:0043125	Molecular function	ErbB-3 class receptor binding	TAS	9590694
GO:0046982	Molecular function	Protein heterodimerization activity	IDA	10572067
GO:0046982	Molecular function	Protein heterodimerization activity	IPI	7556068
GO:0046983	Molecular function	Protein dimerization activity	NAS	12000754

Protein Information

Protein Name

Receptor tyrosine-protein kinase erbB-2, c-erb B2/neu protein, herstatin, human epidermal growth factor receptor 2, metastatic lymph node gene 19 protein, neuro/glioblastoma derived oncogene homolog, neuroblastoma/glioblastoma derived oncogene homolog, p185erbB2, proto-oncogene Neu, proto-oncogene c-ErbB-2, tyrosine kinase-type cell surface receptor HER2, v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2, v-erb-b2 avian erythroblastic leukemia viral oncoprotein 2, v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog

Function

Refseq Proteins

, NP_001276866.1, NP_001005862.1, NP_004439.2, NP_001276867.1, NP_001276865.1

UniProt

P04626

PDB

1QR1, 2KS1, 1MFG, 1MFL, 1MW4, 1N8Z, 1OVC, 1S78, 2A91, 2JWA, 2L4K, 2N2A, 3BE1, 3H3B, 3MZW, 3N85, 3PP0, 3RCD, 3WLW, 3WSQ, 4GFU, 4HRL, 4HRM, 4HRN, 5K33, 5KWG, 5MY6, 5O4G, 5OB4, 5TQS, 6ATT, 6BGT, 6J71

Pfam

Pfam Accession	Pfam ID
PF00757	Furin-like
PF14843	GF_recep_IV
PF07714	Pkinase_Tyr
PF01030	Recep_L_domain

Pathways
	KEGG	Reactome
	EGFR tyrosine kinase inhibitor resistance Endocrine resistance Platinum drug resistance MAPK signaling pathway ErbB signaling pathway Calcium signaling pathway HIF-1 signaling pathway PI3K-Akt signaling pathway Focal adhesion Adherens junction Tight junction Pathways in cancer Proteoglycans in cancer MicroRNAs in cancer Pancreatic cancer Endometrial cancer Prostate cancer Bladder cancer Non-small cell lung cancer Breast cancer Gastric cancer Central carbon metabolism in cancer	Signaling by ERBB2 SHC1 events in ERBB2 signaling PIP3 activates AKT signaling GRB7 events in ERBB2 signaling Downregulation of ERBB2:ERBB3 signaling GRB2 events in ERBB2 signaling PI3K events in ERBB2 signaling Constitutive Signaling by Aberrant PI3K in Cancer Sema4D induced cell migration and growth-cone collapse RAF/MAP kinase cascade ERBB2 Regulates Cell Motility PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ERBB2 Activates PTK6 Signaling Downregulation of ERBB2 signaling TFAP2 (AP-2) family regulates transcription of growth factors and their receptors Constitutive Signaling by Overexpressed ERBB2 Drug-mediated inhibition of ERBB2 signaling Signaling by ERBB2 KD Mutants Resistance of ERBB2 KD mutants to trastuzumab Resistance of ERBB2 KD mutants to sapitinib Resistance of ERBB2 KD mutants to tesevatinib Resistance of ERBB2 KD mutants to neratinib Resistance of ERBB2 KD mutants to osimertinib Resistance of ERBB2 KD mutants to afatinib Resistance of ERBB2 KD mutants to AEE788 Resistance of ERBB2 KD mutants to lapatinib Signaling by ERBB2 ECD mutants Signaling by ERBB2 TMD/JMD mutants Drug resistance in ERBB2 TMD/JMD mutants

Interactions

STRING	MINT	IntAct
ENSP00000306361	P02671	P02671

View interactions

Associated Diseases

Show/Hide all(4 )

Disease group	Disease Name	References
Endocrine System Diseases
Endocrine System Diseases	PCOS	29030491
Neoplasms
	Ovarian Cancer	15457249, 17344846, 19896266, 10897039, 18339846, 26619011
	Breast Cancer	16596621, 16091755, 19436038, 16137437, 11970740, 20197467, 20941507, 19617202, 18840765, 17614302, 22302033, 19896266, 18086299, 15994142, 16865596, 15970926, 15581045, 12655533, 11222871, 12839951, 20332317, 18819904, 19075277, 16234514, 12006526, 25358515, 16682728, 26124351, 164, 21638049, 25221644, 18768436, 11248153, 16978400, 19801490, 16495393, 10897039, 11583189, 21501481, 162, 16950593, 16446318, 165, 28235801
	Gall Bladder Cancer	24997986, 26619011
	Ctaneous Melanoma	26619011
	Lung Cancer	15457249, 22761469, 24033266, 16863509, 15753357, 22325357, 16775247, 18334834, 16638863, 16825508, 27900369, 22908275, 26619011, 12483526
	Stomach Cancer	15457249, 22042947, 15640503, 21532492
	Adenocarcinoma	22042947, 21673877
	Renal Cancer	10897039, 26619011
	Gastric Cancer	15457249, 17344846, 15640503, 21532492, 22042947, 18339846, 26619011
	Colonic Neoplasms	11222871
	Carcinoma	22042947, 21673877, 26950094
	Astrocytoma	15457249
	Prostate cancer	11222871, 17363613, 16984552
	Cancer Metastasis	21532492
	Endometrial Cancer	26619011
	Adenocarcinoma of Prostate	26619011
	Medulloblastoma	20168248
	Papilloma	8603490
	Bladder Cancer	26619011
	Brain Neoplasms	15457249
	Bronchioloalveolar Adenocarcinoma	15457249
	Esophagus Neoplasm	26619011, 22042947
	Intrahepatic Cholangiocarcinoma	16818635
	Glioma	15457249
	Head Neoplasms	26619011
	Stomach Carcinoma	15457249, 17344846
	Glioblastoma Multiforme	15457249
	Ependymoma	15457249
	Cribriform Carcinoma	22042947, 21673877
	Colorectal Cancer	26619011
	Carcinoma of Skin	26619011
	Oligodendroglioma	15457249
	Nasopharyngeal Cancer	24952746
	Extrahepatic Cholangiocarcinoma	16818635
	Gastrointestinal Cancer	21673877
	Adenocarcinoma Of Pancreas	26619011
	Cholangiocarcinoma	16818635
	Vulvar Cancer	28536037, 28877932, 22128196, 2995967, 1713741
Psychiatric/Brain disorders
Psychiatric/Brain disorders	Bipolar Disorder	27329760
Respiratory Tract Diseases
Respiratory Tract Diseases	Asthma	21804549, 20860503, 29273806

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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