Insr (GeneID: 16337) | Mus musculus
Description: insulin receptor [Source:MGI Symbol;Acc:MGI:96575]
Synonyms: IR, 4932439J01Rik, R-A, D630014A15Rik, IR-B, CD220
Other ID(s): ENSMUSG00000005534, MGI:96575
Protein Accession Numbers: XP_006508763, NP_001316985, XP_006508762, XP_006508764, NP_034698
Statistics: ClinVar(207) gnomAD(1036) COSMIC(843) PTM(54)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000302850 You are here now! ENST00000341500 ENST00000600492 NP_000199 You are here now! NP_001073285


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00757 Furin-like Furin-like cysteine rich region 179-340 CL0547 GF_recep_C-rich Homo sapiens
PF01030 Recep_L_domain Receptor L domain 359-473 CL0022 LRR Homo sapiens
PF01030 Recep_L_domain Receptor L domain 52-164 CL0022 LRR Homo sapiens
PF17870 Insulin_TMD Insulin receptor trans-membrane segment 940-987 Homo sapiens
PF07714 PK_Tyr_Ser-Thr Protein tyrosine and serine/threonine kinase 1023-1290 CL0016 PKinase Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Alloxan Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.459 0.724
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.459 0.724
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.459 0.724
Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.459 0.724
Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.459 0.724
Diabetic Neuropathies Nervous System Diseases ; Endocrine System Diseases ; 0.459 0.724
Drug abuse Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
Drug habituation Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
Drug Use Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
Hyperalgesia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Hyperglycemia Nutritional and Metabolic Diseases ; 0.459 0.724
Hyperinsulinism Nutritional and Metabolic Diseases ; 0.459 0.724
Insulin Resistance Nutritional and Metabolic Diseases ; 0.459 0.724
Lung diseases Respiratory Tract Diseases ; 0.459 0.724
Organic Mental Disorders, Substance-Induced Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.459 0.724
Parkinson Disease Nervous System Diseases ; 0.459 0.724
Streptozotocin Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.459 0.724
Substance Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
Substance Use Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
Congenital diaphragmatic hernia Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Substance-Related Disorders Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
Donohue Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.459 0.724
Congenital hernia of foramen of Morgagni Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Congenital hernia of foramen of Bochdalek Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Impaired glucose tolerance Nutritional and Metabolic Diseases ; 0.459 0.724
Symmetric Diabetic Proximal Motor Neuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.459 0.724
Asymmetric Diabetic Proximal Motor Neuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.459 0.724
Diabetic Mononeuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.459 0.724
Diabetic Polyneuropathies Nervous System Diseases ; Endocrine System Diseases ; 0.459 0.724
Diabetic Amyotrophy Nervous System Diseases ; Endocrine System Diseases ; 0.459 0.724
Diabetic Autonomic Neuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.459 0.724
Insulin Receptor, Defect in Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.459 0.724
Rabson-Mendenhall Syndrome Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.459 0.724
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.459 0.724
Gastric Adenocarcinoma N/A 0.459 0.724
Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Skin and Connective Tissue Diseases ; Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.459 0.724
Insulin resistance - type A N/A 0.459 0.724
Diabetic Asymmetric Polyneuropathy Nervous System Diseases ; Endocrine System Diseases ; 0.459 0.724
Allodynia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.459 0.724
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.459 0.724
Substance abuse problem Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.459 0.724
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.459 0.724
Diabetic Neuralgia Nervous System Diseases ; Endocrine System Diseases ; 0.459 0.724
Hyperalgesia, Primary Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Hyperalgesia, Secondary Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Tactile Allodynia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Hyperalgesia, Thermal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Lewy Body Disease Nervous System Diseases ; Mental Disorders ; 0.459 0.724
Insulin Sensitivity Nutritional and Metabolic Diseases ; 0.459 0.724
Endogenous Hyperinsulinism Nutritional and Metabolic Diseases ; 0.459 0.724
Exogenous Hyperinsulinism Nutritional and Metabolic Diseases ; 0.459 0.724
Compensatory Hyperinsulinemia Nutritional and Metabolic Diseases ; 0.459 0.724
Drug Dependence Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
INSULIN RESISTANCE, SUSCEPTIBILITY TO N/A 0.459 0.724
Hyperglycemia, Postprandial Nutritional and Metabolic Diseases ; 0.459 0.724
Hyperinsulinemic Hypoglycemia, Familial, 5 Nutritional and Metabolic Diseases ; 0.459 0.724
Mechanical Allodynia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.459 0.724
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.459 0.724
DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST N/A 0.459 0.724
Prescription Drug Abuse Chemically-Induced Disorders ; Mental Disorders ; 0.459 0.724
NO RESULT FOUND
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