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: gnomAD(310)
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.
ENST00000297494 ENST00000461406 ENST00000467517 ENST00000475017 ENST00000484524 NP_000594 NP_001153581 NP_001153582 NP_001153583


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
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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