• Gene id: 3643

Gene Summary

• Gene Symbol: INSR   Gene   UCSC   Ensembl
• Aliases: CD220, HHF5
• Gene name: insulin receptor
• Alternate names: insulin receptor, IR,
• Gene location: 19p13.2 (7294404: 7112254)     Exons: 22     NC_000019.10
• Gene summary(Entrez): This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this re
• OMIM: 147670

SNPs

rs2059807

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

NC_000019.10   g.7166098A>G
NC_000019.10   g.7166098A>T
NC_000019.9   g.7166109A>G
NC_000019.9   g.7166109A>T
NG_008852.2   g.132903T>C
NG_008852.2   g.132903T>A|SEQ=[A/G/T]|GENE=INSR

Protein Summary

• Protein general information: P06213  
  • Name: Insulin receptor (IR) (EC 2.7.10.1) (CD antigen CD220) [Cleaved into: Insulin receptor subunit alpha; Insulin receptor subunit beta]
  • Length: 1382  
  • Mass: 156,333
• Sequence:

  MATGGRRGAAAAPLLVAVAALLLGAAGHLYPGEVCPGMDIRNNLTRLHELENCSVIEGHLQILLMFKTRPEDFRD
  LSFPKLIMITDYLLLFRVYGLESLKDLFPNLTVIRGSRLFFNYALVIFEMVHLKELGLYNLMNITRGSVRIEKNN
  ELCYLATIDWSRILDSVEDNYIVLNKDDNEECGDICPGTAKGKTNCPATVINGQFVERCWTHSHCQKVCPTICKS
  HGCTAEGLCCHSECLGNCSQPDDPTKCVACRNFYLDGRCVETCPPPYYHFQDWRCVNFSFCQDLHHKCKNSRRQG
  CHQYVIHNNKCIPECPSGYTMNSSNLLCTPCLGPCPKVCHLLEGEKTIDSVTSAQELRGCTVINGSLIINIRGGN
  NLAAELEANLGLIEEISGYLKIRRSYALVSLSFFRKLRLIRGETLEIGNYSFYALDNQNLRQLWDWSKHNLTITQ
  GKLFFHYNPKLCLSEIHKMEEVSGTKGRQERNDIALKTNGDQASCENELLKFSYIRTSFDKILLRWEPYWPPDFR
  DLLGFMLFYKEAPYQNVTEFDGQDACGSNSWTVVDIDPPLRSNDPKSQNHPGWLMRGLKPWTQYAIFVKTLVTFS
  DERRTYGAKSDIIYVQTDATNPSVPLDPISVSNSSSQIILKWKPPSDPNGNITHYLVFWERQAEDSELFELDYCL
  KGLKLPSRTWSPPFESEDSQKHNQSEYEDSAGECCSCPKTDSQILKELEESSFRKTFEDYLHNVVFVPRKTSSGT
  GAEDPRPSRKRRSLGDVGNVTVAVPTVAAFPNTSSTSVPTSPEEHRPFEKVVNKESLVISGLRHFTGYRIELQAC
  NQDTPEERCSVAAYVSARTMPEAKADDIVGPVTHEIFENNVVHLMWQEPKEPNGLIVLYEVSYRRYGDEELHLCV
  SRKHFALERGCRLRGLSPGNYSVRIRATSLAGNGSWTEPTYFYVTDYLDVPSNIAKIIIGPLIFVFLFSVVIGSI
  YLFLRKRQPDGPLGPLYASSNPEYLSASDVFPCSVYVPDEWEVSREKITLLRELGQGSFGMVYEGNARDIIKGEA
  ETRVAVKTVNESASLRERIEFLNEASVMKGFTCHHVVRLLGVVSKGQPTLVVMELMAHGDLKSYLRSLRPEAENN
  PGRPPPTLQEMIQMAAEIADGMAYLNAKKFVHRDLAARNCMVAHDFTVKIGDFGMTRDIYETDYYRKGGKGLLPV
  RWMAPESLKDGVFTTSSDMWSFGVVLWEITSLAEQPYQGLSNEQVLKFVMDGGYLDQPDNCPERVTDLMRMCWQF
  NPKMRPTFLEIVNLLKDDLHPSFPEVSFFHSEENKAPESEELEMEFEDMENVPLDRSSHCQREEAGGRDGGSSLG
  FKRSYEEHIPYTHMNGGKKNGRILTLPRSNPS

• Structural information:
  • Protein Domains: Fibronectin (624-726)
    Fibronectin (757-842)
    Fibronectin (853-947)
    (1023-129)
  • Interpro: IPR003961  IPR036116  IPR006211  IPR006212  IPR009030   IPR013783  IPR011009  IPR000719  IPR017441  IPR000494  IPR036941  IPR001245  IPR008266  IPR020635  IPR016246  IPR002011  
  • Prosite: PS50853 PS00107 PS50011 PS00109 PS00239
  • CDD: cd00063
  • PDB: 1GAG 1I44 1IR3 1IRK 1P14 1RQQ 2AUH 2B4S 2HR7 2MFR 2Z8C 3BU3 3BU5 3BU6 3EKK 3EKN 3ETA 3W11 3W12 3W13 4IBM 4OGA 4XLV 4XSS 4XST 4ZXB 5E1S 5HHW 5J3H 5KQV 5U1M
  • PDBsum: 1GAG 1I44 1IR3 1IRK 1P14 1RQQ 2AUH 2B4S 2HR7 2MFR 2Z8C 3BU3 3BU5 3BU6 3EKK 3EKN 3ETA 3W11 3W12 3W13 4IBM 4OGA 4XLV 4XSS 4XST 4ZXB 5E1S 5HHW 5J3H 5KQV 5U1M
  • DIP: 480
  • STRING: ENSP00000303830
• Other Databases: GeneCards:  INSR  Malacards:  INSR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000187	activation of MAPK activity	IMP	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0003007	heart morphogenesis	IMP	biological process
GO:0004713	protein tyrosine kinase activity	IMP	molecular function
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0004716	signal transducer, downstream of receptor, with protein tyrosine kinase activity	IDA	molecular function
GO:0005009	insulin-activated receptor activity	IDA	molecular function
GO:0005009	insulin-activated receptor activity	IDA	molecular function
GO:0005159	insulin-like growth factor receptor binding	IDA	molecular function
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: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: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: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: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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005886	plasma membrane	IC	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005899	insulin receptor complex	IMP	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IDA	biological process
GO:0008284	positive regulation of cell proliferation	IC	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010042	response to manganese ion	IEA	biological process
GO:0010310	regulation of hydrogen peroxide metabolic process	IEA	biological process
GO:0010560	positive regulation of glycoprotein biosynthetic process	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0019087	transformation of host cell by virus	IMP	biological process
GO:0019903	protein phosphatase binding	IEA	molecular function
GO:0023014	signal transduction by protein phosphorylation	IEA	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0031017	exocrine pancreas development	IEA	biological process
GO:0031405	lipoic acid binding	IEA	molecular function
GO:0031994	insulin-like growth factor I binding	IPI	molecular function
GO:0031995	insulin-like growth factor II binding	IPI	molecular function
GO:0032147	activation of protein kinase activity	IMP	biological process
GO:0032148	activation of protein kinase B activity	IDA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032403	protein complex binding	IEA	molecular function
GO:0032410	negative regulation of transporter activity	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0033280	response to vitamin D	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0034612	response to tumor necrosis factor	IEA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IEA	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0043423	3-phosphoinositide-dependent protein kinase binding	IEA	molecular function
GO:0043548	phosphatidylinositol 3-kinase binding	IPI	molecular function
GO:0043548	phosphatidylinositol 3-kinase binding	IPI	molecular function
GO:0043559	insulin binding	IDA	molecular function
GO:0043559	insulin binding	IPI	molecular function
GO:0043560	insulin receptor substrate binding	IPI	molecular function
GO:0043560	insulin receptor substrate binding	IPI	molecular function
GO:0043560	insulin receptor substrate binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0045429	positive regulation of nitric oxide biosynthetic process	IMP	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045725	positive regulation of glycogen biosynthetic process	IDA	biological process
GO:0045740	positive regulation of DNA replication	IMP	biological process
GO:0045821	positive regulation of glycolytic process	IMP	biological process
GO:0045840	positive regulation of mitotic nuclear division	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045995	regulation of embryonic development	IMP	biological process
GO:0046326	positive regulation of glucose import	NAS	biological process
GO:0046326	positive regulation of glucose import	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0048639	positive regulation of developmental growth	IMP	biological process
GO:0051290	protein heterotetramerization	IDA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051425	PTB domain binding	IPI	molecular function
GO:0051446	positive regulation of meiotic cell cycle	IEA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0060267	positive regulation of respiratory burst	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:2000194	regulation of female gonad development	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000187	activation of MAPK activity	IMP	biological process
GO:0001933	negative regulation of protein phosphorylation	IEA	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0003007	heart morphogenesis	IMP	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IMP	molecular function
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0004716	signal transducer, downstream of receptor, with protein tyrosine kinase activity	IDA	molecular function
GO:0005009	insulin-activated receptor activity	IEA	molecular function
GO:0005009	insulin-activated receptor activity	IDA	molecular function
GO:0005009	insulin-activated receptor activity	IDA	molecular function
GO:0005159	insulin-like growth factor receptor binding	IDA	molecular function
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: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: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: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: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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005829	cytosol	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:0005886	plasma membrane	IC	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005899	insulin receptor complex	IMP	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0005975	carbohydrate metabolic process	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IDA	biological process
GO:0008284	positive regulation of cell proliferation	IC	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IEA	biological process
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0008544	epidermis development	IEA	biological process
GO:0008584	male gonad development	IEA	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010042	response to manganese ion	IEA	biological process
GO:0010310	regulation of hydrogen peroxide metabolic process	IEA	biological process
GO:0010560	positive regulation of glycoprotein biosynthetic process	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0014823	response to activity	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016301	kinase activity	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0019087	transformation of host cell by virus	IMP	biological process
GO:0019901	protein kinase binding	IEA	molecular function
GO:0019903	protein phosphatase binding	IEA	molecular function
GO:0019904	protein domain specific binding	IEA	molecular function
GO:0023014	signal transduction by protein phosphorylation	IEA	biological process
GO:0030238	male sex determination	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0031017	exocrine pancreas development	IEA	biological process
GO:0031405	lipoic acid binding	IEA	molecular function
GO:0031667	response to nutrient levels	IEA	biological process
GO:0031994	insulin-like growth factor I binding	IPI	molecular function
GO:0031995	insulin-like growth factor II binding	IPI	molecular function
GO:0032147	activation of protein kinase activity	IMP	biological process
GO:0032148	activation of protein kinase B activity	IDA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0032403	protein complex binding	IEA	molecular function
GO:0032410	negative regulation of transporter activity	IEA	biological process
GO:0032868	response to insulin	IEA	biological process
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0033280	response to vitamin D	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0034612	response to tumor necrosis factor	IEA	biological process
GO:0038083	peptidyl-tyrosine autophosphorylation	IEA	biological process
GO:0042593	glucose homeostasis	IEA	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0043423	3-phosphoinositide-dependent protein kinase binding	IEA	molecular function
GO:0043548	phosphatidylinositol 3-kinase binding	IEA	molecular function
GO:0043548	phosphatidylinositol 3-kinase binding	IPI	molecular function
GO:0043548	phosphatidylinositol 3-kinase binding	IPI	molecular function
GO:0043559	insulin binding	IEA	molecular function
GO:0043559	insulin binding	IDA	molecular function
GO:0043559	insulin binding	IPI	molecular function
GO:0043560	insulin receptor substrate binding	IEA	molecular function
GO:0043560	insulin receptor substrate binding	IEA	molecular function
GO:0043560	insulin receptor substrate binding	IPI	molecular function
GO:0043560	insulin receptor substrate binding	IPI	molecular function
GO:0043560	insulin receptor substrate binding	IPI	molecular function
GO:0045202	synapse	IEA	cellular component
GO:0045429	positive regulation of nitric oxide biosynthetic process	IMP	biological process
GO:0045444	fat cell differentiation	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0045725	positive regulation of glycogen biosynthetic process	IEA	biological process
GO:0045725	positive regulation of glycogen biosynthetic process	IDA	biological process
GO:0045740	positive regulation of DNA replication	IMP	biological process
GO:0045821	positive regulation of glycolytic process	IMP	biological process
GO:0045840	positive regulation of mitotic nuclear division	IEA	biological process
GO:0045840	positive regulation of mitotic nuclear division	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045995	regulation of embryonic development	IMP	biological process
GO:0046326	positive regulation of glucose import	NAS	biological process
GO:0046326	positive regulation of glucose import	IDA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0048639	positive regulation of developmental growth	IMP	biological process
GO:0051290	protein heterotetramerization	IEA	biological process
GO:0051290	protein heterotetramerization	IDA	biological process
GO:0051384	response to glucocorticoid	IEA	biological process
GO:0051425	PTB domain binding	IPI	molecular function
GO:0051446	positive regulation of meiotic cell cycle	IEA	biological process
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0060267	positive regulation of respiratory burst	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071363	cellular response to growth factor stimulus	IEA	biological process
GO:2000194	regulation of female gonad development	IEA	biological process
GO:0000187	activation of MAPK activity	IMP	biological process
GO:0001934	positive regulation of protein phosphorylation	IDA	biological process
GO:0003007	heart morphogenesis	IMP	biological process
GO:0004713	protein tyrosine kinase activity	IMP	molecular function
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0004716	signal transducer, downstream of receptor, with protein tyrosine kinase activity	IDA	molecular function
GO:0005009	insulin-activated receptor activity	IDA	molecular function
GO:0005009	insulin-activated receptor activity	IDA	molecular function
GO:0005159	insulin-like growth factor receptor binding	IDA	molecular function
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: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: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: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: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: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: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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005886	plasma membrane	IC	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0005899	insulin receptor complex	IMP	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0007186	G-protein coupled receptor signaling pathway	IDA	biological process
GO:0008284	positive regulation of cell proliferation	IC	biological process
GO:0008284	positive regulation of cell proliferation	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	IDA	biological process
GO:0008286	insulin receptor signaling pathway	TAS	biological process
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0010008	endosome membrane	TAS	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0019087	transformation of host cell by virus	IMP	biological process
GO:0030335	positive regulation of cell migration	IMP	biological process
GO:0031994	insulin-like growth factor I binding	IPI	molecular function
GO:0031995	insulin-like growth factor II binding	IPI	molecular function
GO:0032147	activation of protein kinase activity	IMP	biological process
GO:0032148	activation of protein kinase B activity	IDA	biological process
GO:0032869	cellular response to insulin stimulus	IDA	biological process
GO:0042593	glucose homeostasis	IMP	biological process
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0043235	receptor complex	IDA	cellular component
GO:0043410	positive regulation of MAPK cascade	IMP	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0043548	phosphatidylinositol 3-kinase binding	IPI	molecular function
GO:0043548	phosphatidylinositol 3-kinase binding	IPI	molecular function
GO:0043559	insulin binding	IDA	molecular function
GO:0043559	insulin binding	IPI	molecular function
GO:0043560	insulin receptor substrate binding	IPI	molecular function
GO:0043560	insulin receptor substrate binding	IPI	molecular function
GO:0043560	insulin receptor substrate binding	IPI	molecular function
GO:0045429	positive regulation of nitric oxide biosynthetic process	IMP	biological process
GO:0045725	positive regulation of glycogen biosynthetic process	IDA	biological process
GO:0045740	positive regulation of DNA replication	IMP	biological process
GO:0045821	positive regulation of glycolytic process	IMP	biological process
GO:0045840	positive regulation of mitotic nuclear division	IMP	biological process
GO:0045995	regulation of embryonic development	IMP	biological process
GO:0046326	positive regulation of glucose import	NAS	biological process
GO:0046326	positive regulation of glucose import	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IMP	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0048639	positive regulation of developmental growth	IMP	biological process
GO:0051290	protein heterotetramerization	IDA	biological process
GO:0051425	PTB domain binding	IPI	molecular function
GO:0051897	positive regulation of protein kinase B signaling	IMP	biological process
GO:0060267	positive regulation of respiratory burst	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04066	HIF-1 signaling pathway
hsa04068	FoxO signaling pathway
hsa04072	Phospholipase D signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04151	PI3K-Akt signaling pathway
hsa04152	AMPK signaling pathway
hsa04150	mTOR signaling pathway
hsa04520	Adherens junction
hsa04910	Insulin signaling pathway
hsa04923	Regulation of lipolysis in adipocytes
hsa04913	Ovarian steroidogenesis
hsa04960	Aldosterone-regulated sodium reabsorption
hsa04211	Longevity regulating pathway
hsa04213	Longevity regulating pathway - multiple species
hsa04930	Type II diabetes mellitus
hsa04932	Non-alcoholic fatty liver disease
hsa04931	Insulin resistance

Diseases

Associated diseases	References
Cancer	GAD: 19692168
Cancer (bladder)	GAD: 19692168
Cancer (breast)	GAD: 17348446
Cancer (colorectal)	GAD: 17416760
Cancer (epithelial ovarian)	GAD: 19064572
Cancer (lung)	GAD: 18676680
Atherosclerosis	GAD: 12575209
Cardiovascular disease	GAD: 12420346
Hypertension	GAD: 7769500
Myocardial Infarction	GAD: 12575209
Hyperandrogenism	GAD: 19211708
Familial hyperinsulinemic hypoglycemia	KEGG: H01267
Acanthosis nigricans	GAD: 20857837
Diabetes	GAD: 14551916
Hyperlipidemia	GAD: 11846745
Obesity	GAD: 19211708
Insulin resistance	GAD: 19211708
Hypercholesterolemia	GAD: 20602615
Obesity	GAD: 17986276
Insulin resistance	GAD: 2460770
Migraine disorder	GAD: 11735220
Bulimia	GAD: 20468064
Kidney diseases	GAD: 19578796
Polycystic ovarian disease (PCOD)	GAD: 12477518
Hypothyroidism	GAD: 22493691
Preeclampsia	GAD: 18716398
Sexual dysfunctions	GAD: 22445761
Endometriosis	INFBASE: 24947064
Female infertility	INFBASE: 24947064
Female infertility	INFBASE: 25303487
Polycystic ovary syndrome (PCOS)	INFBASE: 21824047
Male factor infertility	MIK: 27172637
Infertility	MIK: 27172637
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Acanthosis nigricans	INFBASE: 2460770
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 27172637
Oligozoospermia	MIK: 20378615
Azoospermia	MIK: 20378615
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
27172637	Male infertility	T132903C in INSR, C109869T in SLC6A14, T824C in OR2W3, T886C in TAS2R38	Persian (Irani an)	196 (96 idiopathic infertile male patients, 100 normal fertile men (controls))	Male infertility	INSR SLC6A14 OR2W3 TAS2R38
20378615	Oligozoospermia or azoospermia	rs2059807	Europea n	442 (158 normospermic controls, 63 moderately oligozoospermic samples, 141 severe oligozoospermic samples and 80 non-obstructed azoospermic samples)	Male infertility	GWAS
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray