NOS3 (nitric oxide synthase 3)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4846
Gene name Gene Name - the full gene name approved by the HGNC.
Nitric oxide synthase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NOS3
Synonyms (NCBI Gene) Gene synonyms aliases
ECNOS, eNOS
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(3)
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.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(39)
miRTarBase ID miRNA Experiments Reference
MIRT007181 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 23108656
MIRT007181 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 23108656
MIRT017773 hsa-miR-335-5p Microarray 18185580
MIRT053134 hsa-miR-24-3p Luciferase reporter assay, qRT-PCR, Western blot 23774796
MIRT053134 hsa-miR-24-3p Immunocytochemistry, Luciferase reporter assay, qRT-PCR, Western blot 25920448
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(12)
Transcription factor Regulation Reference
ATF2 Repression 16497991
DDIT3 Repression 22265908
GATA2 Activation 10713142
GATA4 Activation 14555463
HDAC1 Unknown 22848708
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(118)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
163729 7876 ENSG00000164867
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Gout Gout N/A N/A GWAS
Show/Hide Text Mining Associations (396)
Associations from Text Mining Disease 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