NOS3 (GeneID: 4846) | Homo sapiens
Description: nitric oxide synthase 3 [Source:HGNC Symbol;Acc:HGNC:7876]
Synonyms: ECNOS, eNOS
Other ID(s): HGNC:7876, ENSG00000164867
Protein Accession Numbers: ENST00000467517, NP_001153582, ENST00000484524, ENST00000461406, NP_001153581, ENST00000475017, ENST00000297494, NP_001153583, NP_000594
Statistics: ClinVar(27) gnomAD(620) COSMIC(246) PTM(31)
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.
ENST00000297494 ENST00000461406 ENST00000467517 ENST00000475017 ENST00000484524 You are here now! NP_000594 NP_001153581 NP_001153582 NP_001153583 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
PF00175 NAD_binding_1 Oxidoreductase NAD-binding domain 1011-1125 CL0091 NAD_Ferredoxin Homo sapiens
PF00258 Flavodoxin_1 Flavodoxin 522-698 CL0042 Flavoprotein Homo sapiens
PF00667 FAD_binding_1 FAD binding domain 751-979 CL0076 FAD_Lum_binding Homo sapiens
PF02898 NO_synthase Nitric oxide synthase, oxygenase domain 119-481 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Abruptio Placentae Female Urogenital Diseases and Pregnancy Complications ; 0.401 0.862
Adenocarcinoma Neoplasms ; 0.401 0.862
Alloxan Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.401 0.862
Alzheimer's Disease Nervous System Diseases ; Mental Disorders ; 0.401 0.862
Anoxemia Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Anoxia Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Arteriosclerosis Cardiovascular Diseases ; 0.401 0.862
Atherosclerosis Cardiovascular Diseases ; 0.401 0.862
Atrial Fibrillation Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Bipolar Disorder Mental Disorders ; 0.401 0.862
Malignant neoplasm of breast Neoplasms ; Skin and Connective Tissue Diseases ; 0.401 0.862
Malignant Neoplasms Neoplasms ; 0.401 0.862
Cardiovascular Diseases Cardiovascular Diseases ; 0.401 0.862
Cerebral Infarction Nervous System Diseases ; Cardiovascular Diseases ; 0.401 0.862
Cleft upper lip Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.401 0.862
Cleft Palate Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.401 0.862
Coronary Arteriosclerosis Cardiovascular Diseases ; 0.401 0.862
Coronary Artery Vasospasm Cardiovascular Diseases ; 0.401 0.862
Cruveilhier-Baumgarten Syndrome Digestive System Diseases ; 0.401 0.862
Presenile dementia Nervous System Diseases ; Mental Disorders ; 0.401 0.862
Mental Depression Behavior and Behavior Mechanisms ; 0.401 0.862
Depressive disorder Mental Disorders ; 0.401 0.862
Diabetes Mellitus, Experimental Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.401 0.862
Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.401 0.862
Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.401 0.862
Diabetic Angiopathies Cardiovascular Diseases ; Endocrine System Diseases ; 0.401 0.862
Diabetic Nephropathy Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.401 0.862
Esophageal Neoplasms Neoplasms ; Digestive System Diseases ; 0.401 0.862
Fetal Growth Retardation Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Nodular glomerulosclerosis Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ; 0.401 0.862
Hypertension, Goldblatt Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Cardiovascular Diseases ; 0.401 0.862
Cardiomegaly Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Heart failure Cardiovascular Diseases ; 0.401 0.862
Congestive heart failure Cardiovascular Diseases ; 0.401 0.862
Diaphragmatic Hernia Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Hyperglycemia Nutritional and Metabolic Diseases ; 0.401 0.862
Hyperinsulinism Nutritional and Metabolic Diseases ; 0.401 0.862
Hyperlipidemia Nutritional and Metabolic Diseases ; 0.401 0.862
Hypertensive disease Cardiovascular Diseases ; 0.401 0.862
Hypertension, Portal Digestive System Diseases ; 0.401 0.862
Pulmonary Hypertension Respiratory Tract Diseases ; 0.401 0.862
Hypertension, Renovascular Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Cardiovascular Diseases ; 0.401 0.862
Male infertility Male Urogenital Diseases ; 0.401 0.862
Insulin Resistance Nutritional and Metabolic Diseases ; 0.401 0.862
Intestinal Perforation Digestive System Diseases ; 0.401 0.862
Ischemia Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Kidney Failure, Acute Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.401 0.862
Left-Sided Heart Failure Cardiovascular Diseases ; 0.401 0.862
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.401 0.862
Chronic Obstructive Airway Disease Respiratory Tract Diseases ; 0.401 0.862
Malignant neoplasm of stomach Neoplasms ; Digestive System Diseases ; 0.401 0.862
Microangiopathy, Diabetic Cardiovascular Diseases ; Endocrine System Diseases ; 0.401 0.862
Myocardial Infarction Cardiovascular Diseases ; 0.401 0.862
Myocardial Reperfusion Injury Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Neoplasms Neoplasms ; 0.401 0.862
Pre-Eclampsia Female Urogenital Diseases and Pregnancy Complications ; 0.401 0.862
Prostatic Neoplasms Neoplasms ; Male Urogenital Diseases ; 0.401 0.862
Pulmonary Edema Respiratory Tract Diseases ; 0.401 0.862
Pyemia Bacterial Infections and Mycoses ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Reperfusion Injury Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Septicemia Bacterial Infections and Mycoses ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Stomach Neoplasms Neoplasms ; Digestive System Diseases ; 0.401 0.862
Gastric ulcer Digestive System Diseases ; 0.401 0.862
Streptozotocin Diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; 0.401 0.862
Uremia Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.401 0.862
Ureteral obstruction Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.401 0.862
Tachycardia, Ventricular Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Vestibular Diseases Otorhinolaryngologic Diseases ; 0.401 0.862
Essential Hypertension Cardiovascular Diseases ; 0.401 0.862
Benign Neoplasm Neoplasms ; 0.401 0.862
Premature ventricular contractions Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Myocardial Ischemia Cardiovascular Diseases ; 0.401 0.862
Adenocarcinoma, Basal Cell Neoplasms ; 0.401 0.862
Adenocarcinoma, Oxyphilic Neoplasms ; 0.401 0.862
Carcinoma, Cribriform Neoplasms ; 0.401 0.862
Carcinoma, Granular Cell Neoplasms ; 0.401 0.862
Adenocarcinoma, Tubular Neoplasms ; 0.401 0.862
Diabetes, Autoimmune Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.401 0.862
Paroxysmal atrial fibrillation Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Heart Failure, Right-Sided Cardiovascular Diseases ; 0.401 0.862
Hypoxia Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Erectile dysfunction Male Urogenital Diseases ; Mental Disorders ; 0.401 0.862
Sepsis Bacterial Infections and Mycoses ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Familial Alzheimer Disease (FAD) Nervous System Diseases ; Mental Disorders ; 0.401 0.862
Transient hypertension of pregnancy Female Urogenital Diseases and Pregnancy Complications ; Cardiovascular Diseases ; 0.401 0.862
Brittle diabetes Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.401 0.862
Malignant neoplasm of prostate Neoplasms ; Male Urogenital Diseases ; 0.401 0.862
Alzheimer Disease, Late Onset Nervous System Diseases ; Mental Disorders ; 0.401 0.862
Necrotizing Enterocolitis Digestive System Diseases ; 0.401 0.862
Metabolic Syndrome X Nutritional and Metabolic Diseases ; 0.401 0.862
Acute Confusional Senile Dementia Nervous System Diseases ; Mental Disorders ; 0.401 0.862
Malignant neoplasm of esophagus Neoplasms ; Digestive System Diseases ; 0.401 0.862
Breast Carcinoma Neoplasms ; Skin and Connective Tissue Diseases ; 0.401 0.862
Hypoxemia Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Alzheimer's Disease, Focal Onset Nervous System Diseases ; Mental Disorders ; 0.401 0.862
Alzheimer Disease, Early Onset Nervous System Diseases ; Mental Disorders ; 0.401 0.862
Cerebral Infarction, Left Hemisphere Nervous System Diseases ; Cardiovascular Diseases ; 0.401 0.862
Cerebral Infarction, Right Hemisphere Nervous System Diseases ; Cardiovascular Diseases ; 0.401 0.862
Anterior Choroidal Artery Infarction Nervous System Diseases ; Cardiovascular Diseases ; 0.401 0.862
Subcortical Infarction Nervous System Diseases ; Cardiovascular Diseases ; 0.401 0.862
Subfertility, Male Male Urogenital Diseases ; 0.401 0.862
Pregnancy associated hypertension Female Urogenital Diseases and Pregnancy Complications ; Cardiovascular Diseases ; 0.401 0.862
Posterior Choroidal Artery Infarction Nervous System Diseases ; Cardiovascular Diseases ; 0.401 0.862
Male sterility Male Urogenital Diseases ; 0.401 0.862
Insulin Sensitivity Nutritional and Metabolic Diseases ; 0.401 0.862
Mammary Neoplasms, Human Neoplasms ; Skin and Connective Tissue Diseases ; 0.401 0.862
Endogenous Hyperinsulinism Nutritional and Metabolic Diseases ; 0.401 0.862
Exogenous Hyperinsulinism Nutritional and Metabolic Diseases ; 0.401 0.862
Compensatory Hyperinsulinemia Nutritional and Metabolic Diseases ; 0.401 0.862
Cardiac Hypertrophy Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Mammary Neoplasms Neoplasms ; Skin and Connective Tissue Diseases ; 0.401 0.862
Chronic Airflow Obstruction Respiratory Tract Diseases ; 0.401 0.862
Atherogenesis Cardiovascular Diseases ; 0.401 0.862
Acute Kidney Insufficiency Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.401 0.862
Lipidemias Nutritional and Metabolic Diseases ; 0.401 0.862
Hereditary Diffuse Gastric Cancer Neoplasms ; Digestive System Diseases ; 0.401 0.862
Severe Sepsis Bacterial Infections and Mycoses ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Cleft palate, isolated Musculoskeletal Diseases ; Stomatognathic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.401 0.862
Hyperglycemia, Postprandial Nutritional and Metabolic Diseases ; 0.401 0.862
Coronary Artery Disease Cardiovascular Diseases ; 0.401 0.862
Myocardial Failure Cardiovascular Diseases ; 0.401 0.862
Heart Decompensation Cardiovascular Diseases ; 0.401 0.862
Persistent atrial fibrillation Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Acute kidney injury Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.401 0.862
familial atrial fibrillation Cardiovascular Diseases ; Pathological Conditions, Signs and Symptoms ; 0.401 0.862
Diabetes Mellitus, Ketosis-Prone Nutritional and Metabolic Diseases ; Endocrine System Diseases ; Immune System Diseases ; 0.401 0.862
Familial Ménière disease N/A 0.401 0.862
NO RESULT FOUND
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