NOS3 (nitric oxide synthase 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4846
Gene name Nitric oxide synthase 3
Gene symbol NOS3
Synonyms (NCBI Gene)
ECNOSeNOS
Chromosome 7
Chromosome location 7q36.1
Summary Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs1549758 T>A,C Risk-factor, benign Missense variant, coding sequence variant, synonymous variant
rs1799983 T>A,G Pathogenic, risk-factor, benign Missense variant, coding sequence variant
rs2070744 C>G,T Protective, risk-factor Upstream transcript variant, genic upstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT007181 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 23108656
MIRT007181 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 23108656
MIRT017773 hsa-miR-335-5p Microarray 18185580
MIRT053134 hsa-miR-24-3p Luciferase reporter assayqRT-PCRWestern blot 23774796
MIRT053134 hsa-miR-24-3p ImmunocytochemistryLuciferase reporter assayqRT-PCRWestern blot 25920448
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
ATF2 Repression 16497991
DDIT3 Repression 22265908
GATA2 Activation 10713142
GATA4 Activation 14555463
HDAC1 Unknown 22848708
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
118
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0001525 Process Angiogenesis IEA
GO:0001542 Process Ovulation from ovarian follicle IEA
GO:0001701 Process In utero embryonic development IEA
GO:0001974 Process Blood vessel remodeling IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
163729 7876 ENSG00000164867
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P29474
Protein name Nitric oxide synthase 3 (EC 1.14.13.39) (Constitutive NOS) (cNOS) (EC-NOS) (NOS type III) (NOSIII) (Nitric oxide synthase, endothelial) (Endothelial NOS) (eNOS)
Protein function Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway (PubMed:1378832). NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vess
PDB 1M9J , 1M9K , 1M9M , 1M9Q , 1M9R , 1NIW , 2LL7 , 2MG5 , 2N8J , 3EAH , 3NOS , 4D1O , 4D1P , 5UO8 , 5UO9 , 5UOA , 5UOB , 5UOC , 5VVB , 5VVC , 5VVD , 5XOF , 6AV6 , 6AV7 , 6CIE , 6CIF , 6NH1 , 6NH2 , 6NH3 , 6NH4 , 6NH5 , 6NH6 , 6NH7 , 6NH8 , 6NHF , 6POU , 6POV , 6POW , 6POX , 6POY , 6POZ , 6PP0 , 6PP1 , 6PP2 , 6PP3 , 6PP4 , 7M56 , 7TSG , 7TSH , 7TSI , 7TSK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02898 NO_synthase 119 → 481 Nitric oxide synthase, oxygenase domain Domain
PF00258 Flavodoxin_1 522 → 698 Flavodoxin Domain
PF00667 FAD_binding_1 751 → 979 FAD binding domain Domain
PF00175 NAD_binding_1 1011 → 1125 Oxidoreductase NAD-binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Platelets, placenta, liver and kidney. {ECO:0000269|PubMed:7515611}.
Sequence 
MGNLKSVAQEPGPPCGLGLGLGLGLCGKQGPATPAPEPSRAPASLLPPAPEHSPPSSPLT
QPPEGPKFPRVKNWEVGSITYDTLSAQAQQDGPCTPRRCLGSLVFPRKLQGRPSPGPPAP
EQLLSQARDFINQYYSSIKRSGSQAHEQRLQEVEAEVAATGTYQLRESELVFGAKQAWRN
APRCVGRIQWGKLQVFDARDCRSAQEMFTYICNHIKYATNRGNLRSAITVFPQRCPGRGD
FRIWNSQLVRYAGYRQQDGSVRGDPANVEITELCIQHGWTPGNGRFDVLPLLLQAPDDPP
ELFLLPPELVLEVPLEHPTLEWFAALGLRWYALPAVSNMLLEIGGLEFPAAPFSGWYMST
EIGTRNLCDPHRYNILEDVAVCMDLDTRTTSSLWKDKAAVEINVAVLHSYQLAKVTIVDH
HAATASFMKHLENEQKARGGCPADWAWIVPPISGSLTPVFHQEMVNYFLSPAFRYQPDPW
KGSAAKGTGITRKKTFKEVANAVKISASLMGTVMAKRVKATILYGSETGRAQSYAQQLGR
LFRKAFDPRVLCMDEYDVVSLEHETLVLVVTSTFGNGDPPENGESFAAALMEMSGPYNSS
PRPEQHKSYKIRFNSISCSDPLVSSWRRKRKESSNTDSAGALGTLRFCVFGLGSRAYPHF
CAFARAVDTRLEELGGERLLQLGQGDELCGQEEAFRGWAQAAFQAACETFCVGEDAKAAA
RDIFSPKRSWKRQRYRLSAQAEGLQLLPGLIHVHRRKMFQATIRSVENLQSSKSTRATIL
VRLDTGGQEGLQYQPGDHIGVCPPNRPGLVEALLSRVEDPPAPTEPVAVEQLEKGSPGGP
PPGWVRDPRLPPCTLRQALTFFLDITSPPSPQLLRLLSTLAEEPREQQELEALSQDPRRY
EEWKWFRCPTLLEVLEQFPSVALPAPLLLTQLPLLQPRYYSVSSAPSTHPGEIHLTVAVL
AYRTQDGLGPLHYGVCSTWLSQLKPGDPVPCFIRGAPSFRLPPDPSLPCILVGPGTGIAP
FRGFWQERLHDIESKGLQPTPMTLVFGCRCSQLDHLYRDEVQNAQQRGVFGRVLTAFSRE
PDNPKTYVQDILRTELAAEVHRVLCLERGHMFVCGDVTMATNVLQTVQRILATEGDMELD
EAGDVIGVLRDQQRYHEDIFGLTLRTQEVTSRIRTQSFSLQERQLRGAVPWAFDPPGSDT
NSP
Sequence length 1203
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Arginine biosynthesis
Arginine and proline metabolism
Metabolic pathways
Calcium signaling pathway
cGMP-PKG signaling pathway
HIF-1 signaling pathway
Sphingolipid signaling pathway
PI3K-Akt signaling pathway
VEGF signaling pathway
Apelin signaling pathway
Platelet activation
Estrogen signaling pathway
Oxytocin signaling pathway
Relaxin signaling pathway
Insulin resistance
AGE-RAGE signaling pathway in diabetic complications
Diabetic cardiomyopathy
Lipid and atherosclerosis
Fluid shear stress and atherosclerosis 		  ROS and RNS production in phagocytes
Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation
eNOS activation
NOSTRIN mediated eNOS trafficking
NOSIP mediated eNOS trafficking
Nitric oxide stimulates guanylate cyclase
VEGFR2 mediated vascular permeability
Extra-nuclear estrogen signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Premature ovarian failure Likely pathogenic rs752309888, rs765854160 RCV001270207
RCV001270208
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alzheimer disease Uncertain significance rs1795021746 RCV001330005
Alzheimer disease type 1 Uncertain significance; Benign; Likely benign rs749182113, rs1799983, rs2117128337, rs200774720 RCV003337776
RCV002504788
RCV003990832
RCV002489260
CORONARY ARTERY SPASM 1, SUSCEPTIBILITY TO Benign rs1799983, rs2070744 RCV000015053
RCV000015059
Essential hypertension Uncertain significance rs1802424536 RCV001198168
Show/Hide Text Mining Associations (396)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 22877939, 24047197, 24085449, 24260517, 30680517
Abortion Habitual Stimulate 36631028
Abortion Spontaneous Associate 22877939
Acid Base Imbalance Associate 37037281
Acidosis Stimulate 12060567
Acromegaly Inhibit 16126556
Acute Chest Syndrome Associate 14687036, 26903375, 28486752
Acute Coronary Syndrome Associate 14966047, 18298848, 19891529
Acute Kidney Injury Inhibit 18971208, 35988586
Acute Kidney Injury Associate 26561052, 35988586