NOS3 (nitric oxide synthase 3)

2003-08-01  

Identity

HGNC
NOS3
LOCATION
7q36.1
LOCUSID
4846
ALIAS
ECNOS,eNOS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4846
MIM: 163729
HGNC: 7876
Ensembl: ENSG00000164867

Variants:

dbSNP: 4846
ClinVar: 4846
TCGA: ENSG00000164867
COSMIC: NOS3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164867ENST00000297494P29474
ENSG00000164867ENST00000461406E7ESA7
ENSG00000164867ENST00000467517P29474
ENSG00000164867ENST00000475017H7C4V4
ENSG00000164867ENST00000484524P29474

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Arginine biosynthesisKEGGko00220
Arginine and proline metabolismKEGGko00330
Calcium signaling pathwayKEGGko04020
VEGF signaling pathwayKEGGko04370
Arginine biosynthesisKEGGhsa00220
Arginine and proline metabolismKEGGhsa00330
Calcium signaling pathwayKEGGhsa04020
VEGF signaling pathwayKEGGhsa04370
Metabolic pathwaysKEGGhsa01100
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
HIF-1 signaling pathwayKEGGhsa04066
Estrogen signaling pathwayKEGGhsa04915
Estrogen signaling pathwayKEGGko04915
Platelet activationKEGGhsa04611
Oxytocin signaling pathwayKEGGhsa04921
Oxytocin signaling pathwayKEGGko04921
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
Sphingolipid signaling pathwayKEGGhsa04071
Sphingolipid signaling pathwayKEGGko04071
ROS, RNS production in phagocytesREACTOMER-HSA-1222556
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Nitric oxide stimulates guanylate cyclaseREACTOMER-HSA-392154
Signal TransductionREACTOMER-HSA-162582
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated vascular permeabilityREACTOMER-HSA-5218920
MetabolismREACTOMER-HSA-1430728
Metabolism of nitric oxideREACTOMER-HSA-202131
eNOS activation and regulationREACTOMER-HSA-203765
eNOS activationREACTOMER-HSA-203615
NOSIP mediated eNOS traffickingREACTOMER-HSA-203754
NOSTRIN mediated eNOS traffickingREACTOMER-HSA-203641
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulationREACTOMER-HSA-1474151
Insulin resistanceKEGGhsa04931
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
Fluid shear stress and atherosclerosisKEGGko05418
Fluid shear stress and atherosclerosisKEGGhsa05418
Apelin signaling pathwayKEGGhsa04371

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotationassociatedPD19671875, 25545243, 29938344
PA130620651anthracyclines and related substancesChemicalClinicalAnnotationassociatedPD19671875, 25545243
PA131285527oxaliplatinChemicalClinicalAnnotationassociatedPD19671875, 25545243
PA133950441hmg coa reductase inhibitorsChemicalClinicalAnnotationassociatedPD22890915
PA151249535diureticsChemicalClinicalAnnotationassociatedPD22543981
PA164712308Ace Inhibitors, PlainChemicalClinicalAnnotationassociatedPD22543981
PA164712372Angiotensin II AntagonistsChemicalClinicalAnnotationassociatedPD22543981
PA164712445AntihypertensivesChemicalClinicalAnnotationassociatedPD
PA164712446Antihypertensives And Diuretics In CombinationChemicalClinicalAnnotationassociatedPD19704415
PA164712535Beta Blocking AgentsChemicalClinicalAnnotationassociatedPD22543981, 22890915
PA164713176Platinum compoundsChemicalClinicalAnnotationassociatedPD19671875, 25545243
PA166128370salvianolic acid bChemicalClinicalAnnotationassociatedPD24827774
PA24684AKT1GenePathwayassociated20124951
PA24685AKT2GenePathwayassociated20124951
PA24686AKT3GenePathwayassociated20124951
PA443560Breast NeoplasmsDiseaseClinicalAnnotationassociatedPD19671875, 29938344
PA443796Coronary Artery DiseaseDiseaseClinicalAnnotationassociatedPD22890915
PA443797Coronary DiseaseDiseaseClinicalAnnotationassociatedPD24827774
PA444370Heart FailureDiseaseClinicalAnnotationassociatedPD22543981
PA444447Carcinoma, HepatocellularDiseaseClinicalAnnotationassociatedPD27058899
PA444552HypertensionDiseaseClinicalAnnotationassociatedPD22706620
PA444606Erectile DysfunctionDiseaseClinicalAnnotationassociatedPD22064666
PA444760Leukemia, Myeloid, AcuteDiseaseClinicalAnnotationassociatedPD24684492
PA445062NeoplasmsDiseaseClinicalAnnotationassociatedPD19671875, 25545243
PA445204Ovarian NeoplasmsDiseaseClinicalAnnotationassociatedPD19671875, 25545243
PA445742Stomach NeoplasmsDiseaseClinicalAnnotationassociatedPD19671875, 25545243
PA448478l-arginineChemicalMultilinkAnnotationassociated26385052
PA448497aspirinChemicalClinicalAnnotationassociatedPD22890915
PA449053clopidogrelChemicalClinicalAnnotationassociatedPD22890915
PA449165cyclophosphamideChemicalClinicalAnnotationassociatedPD19671875, 25545243, 29938344
PA449212daunorubicinChemicalClinicalAnnotationassociatedPD24684492
PA449319digoxinChemicalClinicalAnnotationassociatedPD22543981
PA449412doxorubicinChemicalClinicalAnnotation, PathwayassociatedPD19671875, 21048526, 25545243, 29938344
PA449456enalaprilChemicalClinicalAnnotationassociatedPD22706620
PA449476epirubicinChemicalClinicalAnnotationassociatedPD19671875, 25545243
PA449957ibuprofenChemicalPathwayassociated25502615
PA450428methotrexateChemicalClinicalAnnotationassociatedPD19671875, 25545243, 29938344
PA451346sildenafilChemicalClinicalAnnotationassociatedPD22064666
PA451483spironolactoneChemicalClinicalAnnotationassociatedPD22543981
PA7000sorafenibChemicalClinicalAnnotationassociatedPD27058899

References

Pubmed IDYearTitleCitations
378405132024Association between eNOS gene polymorphisms and the risk of unexplained recurrent spontaneous abortion in Yunnan province, China.0
379523112024Association between NOS3 gene polymorphisms and genetic susceptibility to congenital heart Disease: A systematic review and meta-analysis.0
381029792024SUMOylation and coupling of eNOS mediated by PIAS1 contribute to maintenance of vascular homeostasis.0
382547112024Lymphocyte-Specific Protein 1 Regulates Expression and Stability of Endothelial Nitric Oxide Synthase.0
383094702024Endothelial nitric oxide synthase (eNOS) gene polymorphism (Glu298asp) and nitric oxide (NO) levels in patients with ST-segment elevation myocardial infarction (STEMI).0
384621242024Association between nitric oxide synthase (NOS3) gene polymorphisms and diabetic nephropathy: An updated meta-analysis.1
385198972024Low HDL cholesterol and the eNOS Glu298Asp polymorphism are associated with inducible myocardial ischemia in patients with suspected stable coronary artery disease.0
389672792024Combined exercise training decreases blood pressure in OLDER women with NOS3 polymorphism providing changes in differentially methylated regions (DMRs).0
378405132024Association between eNOS gene polymorphisms and the risk of unexplained recurrent spontaneous abortion in Yunnan province, China.0
379523112024Association between NOS3 gene polymorphisms and genetic susceptibility to congenital heart Disease: A systematic review and meta-analysis.0
381029792024SUMOylation and coupling of eNOS mediated by PIAS1 contribute to maintenance of vascular homeostasis.0
382547112024Lymphocyte-Specific Protein 1 Regulates Expression and Stability of Endothelial Nitric Oxide Synthase.0
383094702024Endothelial nitric oxide synthase (eNOS) gene polymorphism (Glu298asp) and nitric oxide (NO) levels in patients with ST-segment elevation myocardial infarction (STEMI).0
384621242024Association between nitric oxide synthase (NOS3) gene polymorphisms and diabetic nephropathy: An updated meta-analysis.1
385198972024Low HDL cholesterol and the eNOS Glu298Asp polymorphism are associated with inducible myocardial ischemia in patients with suspected stable coronary artery disease.0

Citation

Dessen P

NOS3 (nitric oxide synthase 3)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/41554