Gene table of INSR : insulin receptor

Gene-disease associations table

Disease IDDisease nameSource of annotation with INSROMIM linkNumber of associated genesgenes
246200DONOHUE SYNDROMEOMIM, HUMSAVAR link to OMIM 1INSR
262190PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIESOMIM, HUMSAVAR link to OMIM 1INSR
125853DIABETES MELLITUS, NONINSULIN-DEPENDENTClinVar, HUMSAVAR link to OMIM 33SLC2A2, HNF4A, TCF7L2, SLC30A8, GPD2, PAX4, PTPN1, SLC2A4, ABCC8, HMGA1, LIPC, NEUROD1, CDKAL1, WFS1, PPARG, RETN, AKT2, IRS2, IL6, IRS1, GCGR, CAPN10, IGF2BP2, INSR, PDX1, MTNR1B, GCK, HNF1B, HNF1A, MAPK8IP1, ENPP1, PPP1R3A, KCNJ11
610549DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANSClinVar, OMIM, HUMSAVAR link to OMIM 1INSR
PS256450HYPERINSULINEMIA HYPOGLYCEMIAClinVar, OMIM, HUMSAVAR link to OMIM 7GCK, INSR, SLC16A1, GLUD1, HADH, ABCC8, KCNJ11

Download the gene annotation in CSV format

Annotation of the gene INSR

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Aldosterone-regulated sodium reabsorptionhsa049607.41
cGMP-PKG signaling pathwayhsa040225.32
Type II diabetes mellitushsa049307.12
Insulin signaling pathwayhsa049105.55
Ovarian steroidogenesishsa049137.07
Rap1 signaling pathwayhsa040154.97
Ras signaling pathwayhsa040144.9
FoxO signaling pathwayhsa040685.63
HIF-1 signaling pathwayhsa040665.9
Adherens junctionhsa045206.26
AMPK signaling pathwayhsa041525.8
Non-alcoholic fatty liver disease (NAFLD)hsa049325.51
PI3K-Akt signaling pathwayhsa041514.21
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
IRS activationR-HSA-7471310.66
Signal attenuationR-HSA-747499.66
Insulin receptor recyclingR-HSA-773878.28
Signaling by Insulin receptorR-HSA-747524.73
Signal TransductionR-HSA-1625821.78
Insulin receptor signalling cascadeR-HSA-747514.85
Associated GO terms for Molecular function
GO termGO IDGO IC
peptide hormone bindingGO:00170466.13
protein complex bindingGO:00324033.09
signaling receptor activityGO:00380232.49
purine ribonucleoside triphosphate bindingGO:00356392.22
enzyme bindingGO:00198992.27
molecular transducer activityGO:00600892.32
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
signal transducer activityGO:00048712.28
nucleotide bindingGO:00001661.96
heterocyclic compound bindingGO:19013631.06
3-phosphoinositide-dependent protein kinase bindingGO:00434238.64
nucleoside bindingGO:00018822.21
anion bindingGO:00431684.17
coenzyme bindingGO:00506624.53
transmembrane receptor protein tyrosine kinase activityGO:00047145.55
insulin receptor substrate bindingGO:00435607.25
guanyl nucleotide bindingGO:00190013.73
receptor signaling protein activityGO:00050574.76
phosphatidylinositol 3-kinase bindingGO:00435486.41
growth factor bindingGO:00198384.89
ion bindingGO:00431671.36
receptor signaling protein tyrosine kinase activityGO:00047167.44
guanyl ribonucleotide bindingGO:00325613.73
transferase activityGO:00167401.95
protein tyrosine kinase activityGO:00047134.54
protein kinase activityGO:00046723.27
fatty acid bindingGO:00055046.37
purine nucleotide bindingGO:00170762.19
insulin-like growth factor bindingGO:00055206.37
ATP bindingGO:00055242.43
GTP bindingGO:00055253.78
kinase activityGO:00163012.93
amide bindingGO:00332184.14
insulin-like growth factor receptor bindingGO:00051597.03
ribonucleoside bindingGO:00325492.22
lipid bindingGO:00082893.26
nucleoside phosphate bindingGO:19012651.96
protein kinase bindingGO:00199013.44
kinase bindingGO:00199003.32
protein phosphatase bindingGO:00199034.93
phosphatase bindingGO:00199024.63
cofactor bindingGO:00480374.16
protein domain specific bindingGO:00199043.32
peptide bindingGO:00422774.22
monocarboxylic acid bindingGO:00332935.61
PTB domain bindingGO:00514258.35
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
hormone bindingGO:00425625.53
small molecule bindingGO:00360941.89
insulin-like growth factor I bindingGO:00319947.25
insulin-like growth factor II bindingGO:00319957.66
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
catalytic activityGO:00038241.05
carboxylic acid bindingGO:00314064.64
lipoic acid bindingGO:00314059.74
purine nucleoside bindingGO:00018832.22
insulin bindingGO:00435598.13
transmembrane signaling receptor activityGO:00048882.57
purine ribonucleotide bindingGO:00325552.2
adenyl ribonucleotide bindingGO:00325592.41
transmembrane receptor activityGO:00996002.53
protein bindingGO:00055150.46
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
insulin-activated receptor activityGO:00050099.74
receptor bindingGO:00051022.43
transmembrane receptor protein kinase activityGO:00191995.32
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19
receptor activityGO:00048722.32