INS (GeneID: 3630) | Homo sapiens
Description: insulin [Source:HGNC Symbol;Acc:HGNC:6081]
Synonyms: ILPR, IDDM, MODY10, IDDM2, IRDN, IDDM1
Other ID(s): ENSG00000254647, HGNC:6081
Protein Accession Numbers: NP_000198, ENST00000397262.1, ENST00000250971, NP_001172027, ENST00000512523, ENST00000397262, NP_001172026, ENST00000421783, ENST00000381330, NP_001278826
Statistics: ClinVar(193) gnomAD(321) COSMIC(115) PTM(1)
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.
ENST00000250971 You are here now! ENST00000381330 You are here now! ENST00000397262 You are here now! ENST00000421783 ENST00000512523 NP_000198 You are here now! NP_001172026 You are here now! NP_001172027 You are here now! NP_001278826 You are here now!


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
PF00049 Insulin Insulin/IGF/Relaxin family 28-109 CL0239 Insulin Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Albuminuria Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.458 0.828
Bipolar Disorder Mental Disorders ; 0.458 0.828
Depression, Bipolar Mental Disorders ; 0.458 0.828
Urinary Bladder Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.458 0.828
Hypertrophic Cardiomyopathy Cardiovascular Diseases ; 0.458 0.828
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.458 0.828
Diabetes Mellitus Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.458 0.828
Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.458 0.828
Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.458 0.828
Diabetic Ketoacidosis Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.458 0.828
Diabetic Nephropathy Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.458 0.828
Diastematomyelia Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.828
Edema Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Fatty Liver Digestive System Diseases ; 0.458 0.828
Formication Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Nodular glomerulosclerosis Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.458 0.828
Cardiac Arrest Cardiovascular Diseases ; 0.458 0.828
Heart failure Cardiovascular Diseases ; 0.458 0.828
Congestive heart failure Cardiovascular Diseases ; 0.458 0.828
Hepatitis Digestive System Diseases ; 0.458 0.828
Hyperglycemia Nutritional and Metabolic Diseases ; 0.458 0.828
Hyperinsulinism Nutritional and Metabolic Diseases ; 0.458 0.828
Hyperkalemia Nutritional and Metabolic Diseases ; 0.458 0.828
Hypertensive disease Cardiovascular Diseases ; 0.458 0.828
Hypertriglyceridemia Nutritional and Metabolic Diseases ; 0.458 0.828
Hypoglycemia Nutritional and Metabolic Diseases ; 0.458 0.828
Hypokalemia Nutritional and Metabolic Diseases ; 0.458 0.828
Hypotension Cardiovascular Diseases ; 0.458 0.828
Insulin Resistance Nutritional and Metabolic Diseases ; 0.458 0.828
Jacksonian Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Kandinsky Syndrome Mental Disorders ; 0.458 0.828
Kidney Failure, Acute Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.458 0.828
Cystic kidney Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.458 0.828
Left-Sided Heart Failure Cardiovascular Diseases ; 0.458 0.828
Ventricular Outflow Obstruction, Left Cardiovascular Diseases ; 0.458 0.828
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.458 0.828
Manic Disorder Mental Disorders ; 0.458 0.828
Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.458 0.828
Metabolic Diseases Nutritional and Metabolic Diseases ; 0.458 0.828
Myopathy Musculoskeletal Diseases ; Nervous System Diseases ; 0.458 0.828
Neural Tube Defects Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.828
Neurenteric Cyst Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.828
Organic Brain Syndrome, Nonpsychotic Mental Disorders ; 0.458 0.828
Obesity Nutritional and Metabolic Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Delirium, Dementia, Amnestic, Cognitive Disorders Mental Disorders ; 0.458 0.828
Organic Mental Disorders, Psychotic Mental Disorders ; 0.458 0.828
Pancreatitis Digestive System Diseases ; 0.458 0.828
Panic Disorder Mental Disorders ; 0.458 0.828
Paresthesia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Parkinson Disease Nervous System Diseases ; 0.458 0.828
Polycystic Ovary Syndrome Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.458 0.828
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.458 0.828
Psychoses, Traumatic Mental Disorders ; 0.458 0.828
Kidney Failure Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.458 0.828
Rhabdomyolysis Musculoskeletal Diseases ; 0.458 0.828
Ventricular Outflow Obstruction, Right Cardiovascular Diseases ; 0.458 0.828
Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Tachycardia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Unipolar Depression Mental Disorders ; 0.458 0.828
Ventricular Fibrillation Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Ventricular Outflow Obstruction Cardiovascular Diseases ; 0.458 0.828
Tachyarrhythmia Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Tethered Cord Syndrome Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.828
Panic Attacks Mental Disorders ; 0.458 0.828
Complex partial seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Anasarca Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Iniencephaly Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.828
Craniorachischisis Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.828
Liver Failure, Acute Digestive System Diseases ; 0.458 0.828
Diabetes, Autoimmune Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.458 0.828
Memory impairment Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.458 0.828
Generalized seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Seizures, Clonic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Todd Paralysis Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Paresthesia, Distal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Heart Failure, Right-Sided Cardiovascular Diseases ; 0.458 0.828
Ventricular Dysfunction, Left Cardiovascular Diseases ; 0.458 0.828
Exencephaly Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.828
MPTP Poisoning Nervous System Diseases ; Chemically-Induced Disorders ; 0.458 0.828
Visual seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Tonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Epileptic drop attack Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Impaired glucose tolerance Nutritional and Metabolic Diseases ; 0.458 0.828
Fasting Hypoglycemia Nutritional and Metabolic Diseases ; 0.458 0.828
Reactive hypoglycemia Nutritional and Metabolic Diseases ; 0.458 0.828
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.458 0.828
Manic Mental Disorders ; 0.458 0.828
Maturity onset diabetes mellitus in young Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.458 0.828
Hyperproinsulinemia Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.458 0.828
Brittle diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.458 0.828
Spinal Cord Myelodysplasia Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.828
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.458 0.828
Dysesthesia Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Seizures, Somatosensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Seizures, Auditory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Olfactory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Gustatory seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Vertiginous seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.458 0.828
Tonic - clonic seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Paralysed Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Metabolic Syndrome X Nutritional and Metabolic Diseases ; 0.458 0.828
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.458 0.828
Cardiopulmonary Arrest Cardiovascular Diseases ; 0.458 0.828
Acrania Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.458 0.828
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.458 0.828
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.458 0.828
Non-epileptic convulsion Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Single Seizure Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Atonic Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Age-Related Memory Disorders Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.458 0.828
Memory Disorder, Semantic Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.458 0.828
Memory Disorder, Spatial Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.458 0.828
Memory Loss Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.458 0.828
Painful Paresthesias Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Convulsive Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Seizures, Focal Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Seizures, Sensory Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
MPTP-Induced Degeneration of the Striatum Nervous System Diseases ; Chemically-Induced Disorders ; 0.458 0.828
Lewy Body Disease Nervous System Diseases ; Mental Disorders ; 0.458 0.828
Diabetic Cardiomyopathies Cardiovascular Diseases ; Endocrine System Diseases ; 0.458 0.828
Insulin Sensitivity Nutritional and Metabolic Diseases ; 0.458 0.828
Sclerocystic Ovaries Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.458 0.828
Endogenous Hyperinsulinism Nutritional and Metabolic Diseases ; 0.458 0.828
Exogenous Hyperinsulinism Nutritional and Metabolic Diseases ; 0.458 0.828
Compensatory Hyperinsulinemia Nutritional and Metabolic Diseases ; 0.458 0.828
Weight decreased Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Renal Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.458 0.828
Acute Kidney Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.458 0.828
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.458 0.828
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES Nervous System Diseases ; Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
DIABETES MELLITUS, PERMANENT NEONATAL Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.458 0.828
DIABETES MELLITUS, INSULIN-DEPENDENT, 2 Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.458 0.828
22q13.3 Deletion Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Developmental Delay, Epilepsy, and Neonatal Diabetes Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; 0.458 0.828
Hyperglycemia, Postprandial Nutritional and Metabolic Diseases ; 0.458 0.828
Myocardial Failure Cardiovascular Diseases ; 0.458 0.828
Heart Decompensation Cardiovascular Diseases ; 0.458 0.828
Acute kidney injury Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.458 0.828
Steatohepatitis Digestive System Diseases ; 0.458 0.828
Maturity-onset diabetes of the young, type 10 N/A 0.458 0.828
Nonepileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Diabetes Mellitus, Ketosis-Prone Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.458 0.828
Neurocognitive Disorders Mental Disorders ; 0.458 0.828
Convulsions Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Epileptic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Myoclonic Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
Generalized Absence Seizures Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; 0.458 0.828
NO RESULT FOUND
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