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, NP_001172027, ENST00000250971, ENST00000512523, ENST00000397262, NP_001172026, ENST00000421783, NP_001278826, ENST00000381330
Statistics: gnomAD(90) COSMIC(29)
gnomAD Variants By Annotation

∙ 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 ENST00000381330 ENST00000397262 ENST00000421783 ENST00000512523 NP_000198 NP_001172026 NP_001172027 NP_001278826


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
NO DOMAINS EXIST

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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