• Gene id: 3084

Gene Summary

• Gene Symbol: NRG1   Gene   UCSC   Ensembl
• Aliases: ARIA, GGF, GGF2, HGL, HRG, HRG1, HRGA, MST131, MSTP131, NDF, NRG1-IT2, SMDF
• Gene name: neuregulin 1
• Alternate names: pro-neuregulin-1, membrane-bound isoform, acetylcholine receptor-inducing activity, glial growth factor 2, heregulin, alpha (45kD, ERBB2 p185-activator), neu differentiation factor, pro-NRG1, sensory and motor neuron derived factor,
• Gene location: 8p12 (31639221: 32771715)     Exons: 19     NC_000008.11
• Gene summary(Entrez): The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variety of different isoforms are produced from this gene thr
• OMIM: 142445

Protein Summary

• Protein general information: Q02297  
  • Name: Pro neuregulin 1, membrane bound isoform (Pro NRG1) [Cleaved into: Neuregulin 1 (Acetylcholine receptor inducing activity) (ARIA) (Breast cancer cell differentiation factor p45) (Glial growth factor) (Heregulin) (HRG) (Neu differentiation factor) (Sensory
  • Length: 640  
  • Mass: 70,392
• Sequence:

  MSERKEGRGKGKGKKKERGSGKKPESAAGSQSPALPPRLKEMKSQESAAGSKLVLRCETSSEYSSLRFKWFKNGN
  ELNRKNKPQNIKIQKKPGKSELRINKASLADSGEYMCKVISKLGNDSASANITIVESNEIITGMPASTEGAYVSS
  ESPIRISVSTEGANTSSSTSTSTTGTSHLVKCAEKEKTFCVNGGECFMVKDLSNPSRYLCKCQPGFTGARCTENV
  PMKVQNQEKAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRSERNNMMNIANGPHHPN
  PPPENVQLVNQYVSKNVISSEHIVEREAETSFSTSHYTSTAHHSTTVTQTPSHSWSNGHTESILSESHSVIVMSS
  VENSRHSSPTGGPRGRLNGTGGPRECNSFLRHARETPDSYRDSPHSERYVSAMTTPARMSPVDFHTPSSPKSPPS
  EMSPPVSSMTVSMPSMAVSPFMEEERPLLLVTPPRLREKKFDHHPQQFSSFHHNPAHDSNSLPASPLRIVEDEEY
  ETTQEYEPAQEPVKKLANSRRAKRTKPNGHIANRLEVDSNTSSQSSNSESETEDERVGEDTPFLGIQNPLAASLE
  ATPAFRLADSRTNPAGRFSTQEEIQARLSSVIANQDPIAV

• Structural information:
  • Protein Domains: Ig-like (37-128)
    EGF-like. (178-222)
  • Interpro: IPR013032  IPR000742  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR002154  IPR018250  
  • Prosite: PS00022 PS01186 PS50026 PS50835
  • PDB: 1HAE 1HAF 1HRE 1HRF 3U7U
  • PDBsum: 1HAE 1HAF 1HRE 1HRF 3U7U
  • DIP: 355
  • STRING: ENSP00000349275
• Other Databases: GeneCards:  NRG1  Malacards:  NRG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000165	MAPK cascade	TAS	biological process
GO:0000187	activation of MAPK activity	IMP	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0001964	startle response	IEA	biological process
GO:0003161	cardiac conduction system development	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IDA	biological process
GO:0003712	transcription cofactor activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005125	cytokine activity	TAS	molecular function
GO:0005176	ErbB-2 class receptor binding	IEA	molecular function
GO:0005178	integrin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	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:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007154	cell communication	TAS	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IDA	biological process
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IEA	biological process
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IDA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007416	synapse assembly	IEA	biological process
GO:0007422	peripheral nervous system development	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0008083	growth factor activity	IDA	molecular function
GO:0008083	growth factor activity	NAS	molecular function
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008283	cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0009790	embryo development	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IDA	biological process
GO:0014032	neural crest cell development	TAS	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0015758	glucose transport	IEA	biological process
GO:0016020	membrane	NAS	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0021781	glial cell fate commitment	IEA	biological process
GO:0021842	chemorepulsion involved in interneuron migration from the subpallium to the cortex	IEA	biological process
GO:0030296	protein tyrosine kinase activator activity	IDA	molecular function
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	NAS	molecular function
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	NAS	molecular function
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	IC	molecular function
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0030425	dendrite	IEA	cellular component
GO:0030673	axolemma	IEA	cellular component
GO:0030879	mammary gland development	TAS	biological process
GO:0030971	receptor tyrosine kinase binding	NAS	molecular function
GO:0030971	receptor tyrosine kinase binding	NAS	molecular function
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0032148	activation of protein kinase B activity	IMP	biological process
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0038127	ERBB signaling pathway	IDA	biological process
GO:0038127	ERBB signaling pathway	IMP	biological process
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0042060	wound healing	IDA	biological process
GO:0042060	wound healing	TAS	biological process
GO:0042177	negative regulation of protein catabolic process	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0043125	ErbB-3 class receptor binding	IPI	molecular function
GO:0043125	ErbB-3 class receptor binding	IDA	molecular function
GO:0043125	ErbB-3 class receptor binding	IDA	molecular function
GO:0043496	regulation of protein homodimerization activity	TAS	biological process
GO:0043497	regulation of protein heterodimerization activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043624	cellular protein complex disassembly	IGI	biological process
GO:0044297	cell body	IEA	cellular component
GO:0045213	neurotransmitter receptor metabolic process	IEA	biological process
GO:0045499	chemorepellent activity	IEA	molecular function
GO:0045773	positive regulation of axon extension	IEA	biological process
GO:0045785	positive regulation of cell adhesion	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0051048	negative regulation of secretion	IDA	biological process
GO:0051155	positive regulation of striated muscle cell differentiation	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	ISS	biological process
GO:0055012	ventricular cardiac muscle cell differentiation	IDA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IDA	biological process
GO:0060379	cardiac muscle cell myoblast differentiation	IDA	biological process
GO:0060956	endocardial cell differentiation	IDA	biological process
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA	biological process
GO:0070886	positive regulation of calcineurin-NFAT signaling cascade	IEA	biological process
GO:1903955	positive regulation of protein targeting to mitochondrion	IMP	biological process
GO:2000010	positive regulation of protein localization to cell surface	IEA	biological process
GO:2000145	regulation of cell motility	TAS	biological process
GO:2000727	positive regulation of cardiac muscle cell differentiation	IEA	biological process
GO:2001223	negative regulation of neuron migration	IEA	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA	biological process
GO:0000165	MAPK cascade	IEA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0000187	activation of MAPK activity	IMP	biological process
GO:0000902	cell morphogenesis	IEA	biological process
GO:0001964	startle response	IEA	biological process
GO:0003161	cardiac conduction system development	IEA	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IDA	biological process
GO:0003712	transcription cofactor activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005102	receptor binding	IEA	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005125	cytokine activity	TAS	molecular function
GO:0005176	ErbB-2 class receptor binding	IEA	molecular function
GO:0005178	integrin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	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:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0007154	cell communication	TAS	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IDA	biological process
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IEA	biological process
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IDA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0007416	synapse assembly	IEA	biological process
GO:0007420	brain development	IEA	biological process
GO:0007422	peripheral nervous system development	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0008083	growth factor activity	IEA	molecular function
GO:0008083	growth factor activity	IDA	molecular function
GO:0008083	growth factor activity	NAS	molecular function
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008283	cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0008366	axon ensheathment	IEA	biological process
GO:0009790	embryo development	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0010001	glial cell differentiation	IEA	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IDA	biological process
GO:0014032	neural crest cell development	TAS	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0015758	glucose transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	NAS	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016477	cell migration	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0021781	glial cell fate commitment	IEA	biological process
GO:0021842	chemorepulsion involved in interneuron migration from the subpallium to the cortex	IEA	biological process
GO:0022008	neurogenesis	IEA	biological process
GO:0030296	protein tyrosine kinase activator activity	IDA	molecular function
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	NAS	molecular function
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	NAS	molecular function
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	IC	molecular function
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0030673	axolemma	IEA	cellular component
GO:0030879	mammary gland development	TAS	biological process
GO:0030971	receptor tyrosine kinase binding	NAS	molecular function
GO:0030971	receptor tyrosine kinase binding	NAS	molecular function
GO:0031594	neuromuscular junction	IEA	cellular component
GO:0031643	positive regulation of myelination	IEA	biological process
GO:0032148	activation of protein kinase B activity	IMP	biological process
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0038127	ERBB signaling pathway	IDA	biological process
GO:0038127	ERBB signaling pathway	IMP	biological process
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0042060	wound healing	IDA	biological process
GO:0042060	wound healing	TAS	biological process
GO:0042177	negative regulation of protein catabolic process	IEA	biological process
GO:0042552	myelination	IEA	biological process
GO:0043125	ErbB-3 class receptor binding	IEA	molecular function
GO:0043125	ErbB-3 class receptor binding	IPI	molecular function
GO:0043125	ErbB-3 class receptor binding	IDA	molecular function
GO:0043125	ErbB-3 class receptor binding	IDA	molecular function
GO:0043496	regulation of protein homodimerization activity	TAS	biological process
GO:0043497	regulation of protein heterodimerization activity	IDA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043624	cellular protein complex disassembly	IGI	biological process
GO:0044297	cell body	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0045213	neurotransmitter receptor metabolic process	IEA	biological process
GO:0045499	chemorepellent activity	IEA	molecular function
GO:0045595	regulation of cell differentiation	IEA	biological process
GO:0045773	positive regulation of axon extension	IEA	biological process
GO:0045785	positive regulation of cell adhesion	IDA	biological process
GO:0045860	positive regulation of protein kinase activity	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046579	positive regulation of Ras protein signal transduction	IEA	biological process
GO:0046854	phosphatidylinositol phosphorylation	IEA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0048663	neuron fate commitment	IEA	biological process
GO:0048709	oligodendrocyte differentiation	IEA	biological process
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0051048	negative regulation of secretion	IDA	biological process
GO:0051155	positive regulation of striated muscle cell differentiation	ISS	biological process
GO:0051897	positive regulation of protein kinase B signaling	IEA	biological process
GO:0055007	cardiac muscle cell differentiation	ISS	biological process
GO:0055012	ventricular cardiac muscle cell differentiation	IDA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IDA	biological process
GO:0060379	cardiac muscle cell myoblast differentiation	IDA	biological process
GO:0060956	endocardial cell differentiation	IDA	biological process
GO:0060999	positive regulation of dendritic spine development	IEA	biological process
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA	biological process
GO:0070886	positive regulation of calcineurin-NFAT signaling cascade	IEA	biological process
GO:1903955	positive regulation of protein targeting to mitochondrion	IMP	biological process
GO:2000010	positive regulation of protein localization to cell surface	IEA	biological process
GO:2000145	regulation of cell motility	TAS	biological process
GO:2000727	positive regulation of cardiac muscle cell differentiation	IEA	biological process
GO:2001223	negative regulation of neuron migration	IEA	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0000187	activation of MAPK activity	IMP	biological process
GO:0003222	ventricular trabecula myocardium morphogenesis	IDA	biological process
GO:0003712	transcription cofactor activity	IDA	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0005088	Ras guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0005102	receptor binding	IPI	molecular function
GO:0005125	cytokine activity	TAS	molecular function
GO:0005178	integrin binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	cellular component
GO:0005576	extracellular region	NAS	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:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0007154	cell communication	TAS	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IDA	biological process
GO:0007171	activation of transmembrane receptor protein tyrosine kinase activity	IDA	biological process
GO:0007399	nervous system development	TAS	biological process
GO:0008083	growth factor activity	IDA	molecular function
GO:0008083	growth factor activity	NAS	molecular function
GO:0008283	cell proliferation	IDA	biological process
GO:0008284	positive regulation of cell proliferation	IMP	biological process
GO:0010667	negative regulation of cardiac muscle cell apoptotic process	IDA	biological process
GO:0014032	neural crest cell development	TAS	biological process
GO:0014066	regulation of phosphatidylinositol 3-kinase signaling	TAS	biological process
GO:0016020	membrane	NAS	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0030296	protein tyrosine kinase activator activity	IDA	molecular function
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	NAS	molecular function
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	NAS	molecular function
GO:0030297	transmembrane receptor protein tyrosine kinase activator activity	IC	molecular function
GO:0030307	positive regulation of cell growth	IDA	biological process
GO:0030879	mammary gland development	TAS	biological process
GO:0030971	receptor tyrosine kinase binding	NAS	molecular function
GO:0030971	receptor tyrosine kinase binding	NAS	molecular function
GO:0032148	activation of protein kinase B activity	IMP	biological process
GO:0035556	intracellular signal transduction	IBA	biological process
GO:0038127	ERBB signaling pathway	IDA	biological process
GO:0038127	ERBB signaling pathway	IMP	biological process
GO:0038128	ERBB2 signaling pathway	TAS	biological process
GO:0042060	wound healing	IDA	biological process
GO:0042060	wound healing	TAS	biological process
GO:0043125	ErbB-3 class receptor binding	IPI	molecular function
GO:0043125	ErbB-3 class receptor binding	IDA	molecular function
GO:0043125	ErbB-3 class receptor binding	IDA	molecular function
GO:0043496	regulation of protein homodimerization activity	TAS	biological process
GO:0043497	regulation of protein heterodimerization activity	IDA	biological process
GO:0043624	cellular protein complex disassembly	IGI	biological process
GO:0045785	positive regulation of cell adhesion	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0046934	phosphatidylinositol-4,5-bisphosphate 3-kinase activity	TAS	molecular function
GO:0048015	phosphatidylinositol-mediated signaling	TAS	biological process
GO:0051048	negative regulation of secretion	IDA	biological process
GO:0051155	positive regulation of striated muscle cell differentiation	ISS	biological process
GO:0055007	cardiac muscle cell differentiation	ISS	biological process
GO:0055012	ventricular cardiac muscle cell differentiation	IDA	biological process
GO:0060045	positive regulation of cardiac muscle cell proliferation	IDA	biological process
GO:0060379	cardiac muscle cell myoblast differentiation	IDA	biological process
GO:0060956	endocardial cell differentiation	IDA	biological process
GO:1903955	positive regulation of protein targeting to mitochondrion	IMP	biological process
GO:2000145	regulation of cell motility	TAS	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01521	EGFR tyrosine kinase inhibitor resistance

Diseases

Associated diseases	References
Cancer	GAD: 22267200
Cancer (thyroid)	GAD: 22267200
Cardiovascular disease	GAD: 18798975
Atherosclerosis	GAD: 17447867
Hirschsprung disease	GAD: 19196962
Diabetes	GAD: 21546767
Osteoporosis	GAD: 17903295
Psychological disorders	GAD: 19086053
Psychological disorders	GAD: 16730337
Psychological disorders	GAD: 17503451
Schizophrenia	GAD: 18455369
Several psychiatric disorders	GAD: 19086053
Autism	GAD: 17519028
Bipolar disorder	GAD: 15939841
Cognitive function	GAD: 17336946
Depression	GAD: 19367584
Autism	GAD: 19736351
Bipolar disorder	GAD: 18466881
Alzheimer's disease	GAD: 16082692
Ovarian response	INFBASE: 25456162
Unexplained infertility	INFBASE: 21665544
Unexplained azoospermia	MIK: 26662397
Male factor infertility	MIK: 27210772
Spermatogenesis defects	MIK: 26662397
Asthma	GAD: 18395550
Schizotypal traits	GAD: 16219117
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 27210772
Spermatogenic defects	MIK: 31037746
Unexplained azoospermia	MIK: 26662397
Teratozoospermia	MIK: 17327269
Unexplained azoospermia	MIK: 26662397

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
27210772	Male infertility	C633T		335 (139 infertile couples, controls were 196 pregnant couples)	Male infertility
26662397	Unexplained azoospermia	Copy number variations		33 (11 patients with chromosome abnormalities, 16 males with azoospermia)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray