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 this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters res... See more...

Aliases for NOS3 Gene

Aliases for NOS3 Gene

  • Nitric Oxide Synthase 3 2 3 5
  • ENOS 2 3 4
  • Nitric Oxide Synthase 3 (Endothelial Cell) 2 3
  • Nitric Oxide Synthase, Endothelial 3 4
  • Constitutive NOS 3 4
  • Endothelial NOS 3 4
  • EC 1.14.13.39 4 50
  • NOS Type III 3 4
  • EC-NOS 3 4
  • NOSIII 3 4
  • ECNOS 2 3
  • CNOS 3 4
  • Nitric Oxide Synthase 3 Transcript Variant ENOS-Delta20-21 3
  • Nitric Oxide Synthase 3 Transcript Variant ENOS-Delta20 3
  • Nitric Oxide Synthase 3 Transcript Variant ENOS-Delta21 3
  • Endothelial Nitric Oxide Synthase 2
  • NOS3 5

External Ids for NOS3 Gene

Previous GeneCards Identifiers for NOS3 Gene

  • GC07P148937
  • GC07P150005
  • GC07P150082
  • GC07P150079
  • GC07P150125
  • GC07P150319
  • GC07P150688
  • GC07P144500

Summaries for NOS3 Gene

Entrez Gene Summary for NOS3 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 this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]

GeneCards Summary for NOS3 Gene

NOS3 (Nitric Oxide Synthase 3) is a Protein Coding gene. Diseases associated with NOS3 include Stroke, Ischemic and Alzheimer Disease. Among its related pathways are Apelin signaling pathway and HIF1Alpha Pathway. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and iron ion binding. An important paralog of this gene is NOS1.

UniProtKB/Swiss-Prot Summary for NOS3 Gene

  • Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets.
  • [Isoform eNOS13C]: Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1.

Tocris Summary for NOS3 Gene

  • Endothelial nitric oxide synthase (eNOS), along with inducible nitric oxide synthase (iNOS) and neuronal nitric oxide synthase (nNOS), catalyze nitric oxide and L-citrulline generation from L-arginine and molecular oxygen. eNOS is activated at calcium concentrations over 100 nM.

Gene Wiki entry for NOS3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NOS3 Gene

Genomics for NOS3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NOS3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J150992 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 250.7 +3.8 3750 4.9 BCLAF1 NCOR1 MYC IKZF1 SIX5 ZNF592 NFIC ZIC2 NONO TARDBP NOS3 ENSG00000244151 NUB1 GIMAP7 GIMAP6 GIMAP4 KCNH2 GIMAP1 GIMAP2 GIMAP5
GH07J150988 Enhancer 1.2 ENCODE CraniofacialAtlas dbSUPER 250.7 -1.6 -1628 2.3 MYC ZNF654 IKZF1 ZNF592 NFIC ZIC2 CTCF REST ETS1 TRIM22 NOS3 KCNH2 HSALNG0062311
GH07J150990 Promoter/Enhancer 1.1 EPDnew ENCODE dbSUPER 250.7 0.0 -36 0.2 ZNF316 FOSL2 JUND ZNF318 ZEB2 ARNT ZNF184 ATF3 CBFA2T2 FOS NOS3 ABCB8 HSALNG0062311 KCNH2
GH07J151007 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.7 +20.1 20109 7.7 ZNF207 ZNF654 MYC NCOR1 IKZF1 ZNF600 SIX5 JUND ZNF592 ZMYM3 lnc-ATG9B-1 ENSG00000244151 NOS3 NUB1 KCNH2 ASIC3 CDK5 SLC4A2 FASTK TMUB1
GH07J150953 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 12.5 -35.4 -35408 4.1 ZNF600 NCOR1 MYC IKZF1 REST SMAD5 HES1 BHLHE40 MBD2 TBP KCNH2 NOS3 ENSG00000243433 ABCB8 ATG9B AOC1 HSALNG0062310 HSALNG0062309
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NOS3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NOS3

Top Transcription factor binding sites by QIAGEN in the NOS3 gene promoter:
  • AP-1
  • NF-1
  • NF-1/L
  • NRSF form 1
  • NRSF form 2
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for NOS3 Gene

Latest Assembly
chr7:150,991,017-151,014,588
(GRCh38/hg38)
Size:
23,572 bases
Orientation:
Plus strand

Previous Assembly
chr7:150,688,105-150,711,676
(GRCh37/hg19 by Entrez Gene)
Size:
23,572 bases
Orientation:
Plus strand

chr7:150,688,083-150,711,676
(GRCh37/hg19 by Ensembl)
Size:
23,594 bases
Orientation:
Plus strand

Genomic View for NOS3 Gene

Genes around NOS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NOS3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NOS3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NOS3 Gene

Proteins for NOS3 Gene

  • Protein details for NOS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29474-NOS3_HUMAN
    Recommended name:
    Nitric oxide synthase, endothelial
    Protein Accession:
    P29474
    Secondary Accessions:
    • A0S0A7
    • A0S0A8
    • A8KA63
    • B2RCQ1
    • E9PFR2
    • Q13662
    • Q14251
    • Q14434
    • Q548C1
    • Q6GSL5
    • Q9UDC6

    Protein attributes for NOS3 Gene

    Size:
    1203 amino acids
    Molecular mass:
    133275 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Cofactor:
    Name=FMN; Xref=ChEBI:CHEBI:58210;
    Cofactor:
    Name=(6R)-L-erythro-5,6,7,8-tetrahydrobiopterin; Xref=ChEBI:CHEBI:59560;
    Quaternary structure:
    • Homodimer. Interacts with NOSIP and NOSTRIN. Interacts with HSP90AB1 (PubMed:23585225).
    Miscellaneous:
    • [Isoform eNOS13C]: Lacks eNOS activity.

    Three dimensional structures from OCA and Proteopedia for NOS3 Gene

    Alternative splice isoforms for NOS3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NOS3 Gene

Selected DME Specific Peptides for NOS3 Gene

P29474:
  • PPELVLEVP
  • RGGCPADW
  • GNLRSAIT
  • MAKRVKATILY
  • AVLHSYQ
  • QYYSSIKR
  • LQVFDAR
  • GQEEAFR
  • SFMKHLE
  • AWRNAPRC
  • ICNHIKYATN
  • GDPANVE
  • GSITYDTL
  • RSAITVFPQR
  • STFGNGDPPENG
  • RKKTFKEVANAVKISASLM
  • LLQPRYYS
  • LRTELAAEVHRVLCLE
  • GDPVPCFIR
  • AVLAYRTQDGLGPLHYGVCSTW
  • VVTSTFGNGD
  • LQYQPGDH
  • ETFCVGEDAKAAARDIFSPKR
  • VFGLGSR
  • LPAVSNMLLEIGGLEF
  • MTLVFGCR
  • QEPGPPCGLGLGLGLGLCGKQGPA
  • GWAQAAFQA
  • EVAATGTY
  • EPSRAPA
  • EIHLTVA
  • VTIVDHH
  • PKTYVQD
  • HVHRRKMFQAT
  • TPVFHQEM
  • YPHFCAF
  • RFDVLPLLLQA
  • GLVEALLSRVEDP
  • LGLRWYALPAVS
  • VCGDVTMA

Post-translational modifications for NOS3 Gene

  • Phosphorylation by AMPK at Ser-1177 in the presence of Ca(2+)-calmodulin (CaM) activates activity. In absence of Ca(2+)-calmodulin, AMPK also phosphorylates Thr-495, resulting in inhibition of activity (By similarity). Phosphorylation of Ser-114 by CDK5 reduces activity.
  • Ubiquitination at Lys1035
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Abcam antibodies for NOS3

Domains & Families for NOS3 Gene

Gene Families for NOS3 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for NOS3 Gene

InterPro:
Blocks:
  • Oxidoreductase FAD/NAD(P)-binding
  • Flavoprotein pyridine nucleotide cytochrome reductase signature
  • Flavodoxin signature
  • Flavodoxin/nitric oxide synthase
  • FAD-binding
  • Nitric oxide synthase, NOS
  • Flavodoxin

Suggested Antigen Peptide Sequences for NOS3 Gene

GenScript: Design optimal peptide antigens:
  • NOS type III (NOS3_HUMAN)
  • NOS III (O14937_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P29474

UniProtKB/Swiss-Prot:

NOS3_HUMAN :
  • Belongs to the NOS family.
Family:
  • Belongs to the NOS family.
genes like me logo Genes that share domains with NOS3: view

Function for NOS3 Gene

Molecular function for NOS3 Gene

UniProtKB/Swiss-Prot Function:
Produces nitric oxide (NO) which is implicated in vascular smooth muscle relaxation through a cGMP-mediated signal transduction pathway. NO mediates vascular endothelial growth factor (VEGF)-induced angiogenesis in coronary vessels and promotes blood clotting through the activation of platelets.
UniProtKB/Swiss-Prot Function:
[Isoform eNOS13C]: Lacks eNOS activity, dominant-negative form that may down-regulate eNOS activity by forming heterodimers with isoform 1.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + 2 L-arginine + 3 NADPH + 4 O2 = 4 H2O + 2 L-citrulline + 3 NADP(+) + 2 nitric oxide; Xref=Rhea:RHEA:19897, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:16480, ChEBI:CHEBI:32682, ChEBI:CHEBI:57743, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.14.13.39;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Stimulated by calcium/calmodulin. Inhibited by NOSIP and NOSTRIN.
GENATLAS Biochemistry:
nitric oxide synthase 3,constitutively expressed,endothelial,also expressed in cardiac myocytes,regulating vascular tone,overexpressed in squamous hyperplasia,dysplasia and squamous cell carcinoma of the head and neck,putative susceptibility factor for late onset Alzheimer disease

Enzyme Numbers (IUBMB) for NOS3 Gene

Phenotypes From GWAS Catalog for NOS3 Gene

Gene Ontology (GO) - Molecular Function for NOS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IPI 17502619
GO:0003958 NADPH-hemoprotein reductase activity IBA --
GO:0004517 nitric-oxide synthase activity IBA,IMP 23707606
GO:0005515 protein binding IPI 11149895
GO:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with NOS3: view
genes like me logo Genes that share phenotypes with NOS3: view

Human Phenotype Ontology for NOS3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NOS3 Gene

MGI Knock Outs for NOS3:

Animal Models for research

  • Taconic Biosciences Mouse Models for NOS3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOS3

Clone products for research

  • Addgene plasmids for NOS3

No data available for Transcription Factor Targets and HOMER Transcription for NOS3 Gene

Localization for NOS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NOS3 Gene

Cell membrane. Membrane, caveola. Cytoplasm, cytoskeleton. Golgi apparatus. Note=Specifically associates with actin cytoskeleton in the G2 phase of the cell cycle. which is favored by interaction with NOSIP and results in a reduced enzymatic activity.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NOS3 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
golgi apparatus 5
nucleus 4
cytosol 4
extracellular 3
mitochondrion 3
endoplasmic reticulum 3
peroxisome 2
endosome 2
lysosome 2

Gene Ontology (GO) - Cellular Components for NOS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005634 nucleus IBA,ISS --
GO:0005737 cytoplasm IEA,ISS --
GO:0005794 Golgi apparatus IDA 25131610
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NOS3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NOS3 Gene

Pathways & Interactions for NOS3 Gene

genes like me logo Genes that share pathways with NOS3: view

Pathways by source for NOS3 Gene

6 GeneGo (Thomson Reuters) pathways for NOS3 Gene
  • Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1
  • Development A2B receptor- action via G-protein alpha s
  • Development EDNRB signaling
  • Development VEGF signaling via VEGFR2 - generic cascades
  • Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF)
3 Tocris pathways for NOS3 Gene
18 Qiagen pathways for NOS3 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Akt Signaling
  • AMPK Enzyme Complex Pathway
  • Angiopoietin-TIE2 Signaling
2 Cell Signaling Technology pathways for NOS3 Gene

SIGNOR curated interactions for NOS3 Gene

Gene Ontology (GO) - Biological Process for NOS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001974 blood vessel remodeling ISS --
GO:0003100 regulation of systemic arterial blood pressure by endothelin IMP 8999856
GO:0003180 aortic valve morphogenesis TAS 29325903
GO:0003184 pulmonary valve morphogenesis ISS --
GO:0003203 endocardial cushion morphogenesis ISS --
genes like me logo Genes that share ontologies with NOS3: view

Drugs & Compounds for NOS3 Gene

(170) Drugs for NOS3 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tetrahydrobiopterin Approved, Investigational Pharma Target, cofactor 0
Doxorubicin Approved, Investigational Pharma Enzyme, substrate Topo II inhibitor,immunosuppresive antineoplastic antibiotic 2106
Miconazole Approved, Investigational, Vet_approved Pharma Target, inhibitor 3164
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1884
Sildenafil Approved, Investigational Pharma PDE5 inhibitor, selective 0

(44) Additional Compounds for NOS3 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
N(omega)-Hydroxyarginine
  • N-OMEGA-hydroxy-L-arginine
  • N(Omega)-hydroxy-L-arginine
  • N(Ω)-hydroxy-L-arginine
  • N(Ω)-hydroxyarginine
  • 6-NOHA
53054-07-2

(1) Tocris Compounds for NOS3 Gene

Compound Action Cas Number
L-NIO dihydrochloride NOS inhibitor 159190-44-0

(23) ApexBio Compounds for NOS3 Gene

Compound Action Cas Number
(S)-Methylisothiourea sulfate 867-44-7
1400W dihydrochloride INOS inhibitor,potent and highly selective 214358-33-5
2,4-Diamino-6-hydroxypyrimidine 1956-06-4
2-Iminopiperidine hydrochloride 16011-96-4
3-Bromo-7-nitroindazole 74209-34-0
7-NINA 161467-34-1
7-Nitroindazole 2942-42-9
Aminoguanidine hydrochloride 1937-19-5
AMT hydrochloride 21463-31-0
AR-C 102222 253771-21-0
ARL 17477 dihydrochloride Selective nNOS inhibitor 866914-87-6
BYK 191023 dihydrochloride INOS inhibitor,potent and selective 1216722-25-6
Carboxy-PTIO, potassium salt 148819-94-7
DMPO 3317-61-1
EIT hydrobromide 1071-37-0
L-Canavanine sulfate 2219-31-0
L-NIL hydrochloride 150403-89-7
L-NIO dihydrochloride inhibitor of nitric oxide (NO) synthase 159190-44-0
L-NMMA acetate 53308-83-1
ODQ 41443-28-1
Saikosaponin A COX-2 and iNOS inhibitor 20736-09-8
S-Isopropylisothiourea hydrobromide 4269-97-0
TRIM 25371-96-4
genes like me logo Genes that share compounds with NOS3: view

Drug products for research

Transcripts for NOS3 Gene

mRNA/cDNA for NOS3 Gene

4 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NOS3

Clone products for research

  • Addgene plasmids for NOS3

Alternative Splicing Database (ASD) splice patterns (SP) for NOS3 Gene

No ASD Table

Relevant External Links for NOS3 Gene

GeneLoc Exon Structure for
NOS3

Expression for NOS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NOS3 Gene

mRNA differential expression in normal tissues according to GTEx for NOS3 Gene

This gene is overexpressed in Spleen (x8.7).

Protein differential expression in normal tissues from HIPED for NOS3 Gene

This gene is overexpressed in Placenta (22.1), Spleen (17.2), and Uterus (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NOS3 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NOS3

SOURCE GeneReport for Unigene cluster for NOS3 Gene:

Hs.647092

mRNA Expression by UniProt/SwissProt for NOS3 Gene:

P29474-NOS3_HUMAN
Tissue specificity: Platelets, placenta, liver and kidney.

Evidence on tissue expression from TISSUES for NOS3 Gene

  • Blood(4.6)
  • Nervous system(4.6)
  • Spleen(4.6)
  • Liver(4.6)
  • Heart(3.6)
  • Muscle(3.3)
  • Kidney(2.8)
  • Intestine(2.5)
  • Lung(2.4)
  • Skin(2.4)
  • Pancreas(2.3)
  • Urine(2.1)
  • Adrenal gland(2.1)
  • Bone marrow(2.1)
  • Eye(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with NOS3: view

Primer products for research

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NOS3 Gene

Orthologs for NOS3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NOS3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NOS3 29 30
  • 99.56 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NOS3 30
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia NOS3 29 30
  • 90.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NOS3 29 30
  • 90.41 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Nos3 29 16 30
  • 88.46 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nos3 29
  • 87.94 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia NOS3 30
  • 82 (a)
OneToOne
Chicken
(Gallus gallus)
Aves INOS 30
  • 49 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia NOS3 30
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nos3 29
  • 66.96 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Nos 30 31
  • 41 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes NCP1 30
  • 25 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5751 30
  • 49 (a)
OneToMany
Species where no ortholog for NOS3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for NOS3 Gene

ENSEMBL:
Gene Tree for NOS3 (if available)
TreeFam:
Gene Tree for NOS3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NOS3: view image
Alliance of Genome Resources:
Additional Orthologs for NOS3

Paralogs for NOS3 Gene

Paralogs for NOS3 Gene

(3) SIMAP similar genes for NOS3 Gene using alignment to 4 proteins:

  • NOS3_HUMAN
  • E7ESA7_HUMAN
  • H7C4V4_HUMAN
  • O14937_HUMAN
genes like me logo Genes that share paralogs with NOS3: view

Variants for NOS3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NOS3 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
1028848 Uncertain Significance: Alzheimer disease 150,999,285(+) C/T
NM_000603.5(NOS3):c.1052C>T (p.Ala351Val)
MISSENSE
929757 Likely Pathogenic: Premature ovarian failure 150,995,216(+) C/T
NM_000603.5(NOS3):c.172C>T (p.Pro58Ser)
MISSENSE
929758 Likely Pathogenic: Premature ovarian failure 150,996,848(+) G/A
NM_000603.5(NOS3):c.505G>A (p.Glu169Lys)
MISSENSE
931540 Uncertain Significance: Essential hypertension 150,996,417(+) C/T
NM_000603.5(NOS3):c.284C>T (p.Thr95Ile)
MISSENSE
rs1012519236 Likely Benign: not provided 151,001,248(+) C/T
NM_000603.5(NOS3):c.1251C>T (p.Ile417=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NOS3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NOS3 Gene

Variant ID Type Subtype PubMed ID
dgv11722n54 CNV loss 21841781
dgv11723n54 CNV loss 21841781
dgv3695n106 OTHER inversion 24896259
dgv3696n106 CNV deletion 24896259
esv2735394 CNV deletion 23290073
esv274999 CNV loss 21479260
nsv1030109 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1075072 CNV deletion 25765185
nsv1151906 OTHER inversion 26484159
nsv608990 CNV gain 21841781
nsv951648 CNV deletion 24416366

Variation tolerance for NOS3 Gene

Residual Variation Intolerance Score: 22.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.04; 60.52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NOS3 Gene

Human Gene Mutation Database (HGMD)
NOS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NOS3
Leiden Open Variation Database (LOVD)
NOS3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOS3 Gene

Disorders for NOS3 Gene

MalaCards: The human disease database

(108) MalaCards diseases for NOS3 Gene - From: OMI, CVR, GTR, COP, and GCD

Disorder Aliases PubMed IDs
stroke, ischemic
  • cerebrovascular accident
alzheimer disease
  • ad
hypertension, essential
  • eht
preeclampsia/eclampsia 1
  • pee1
acute chest syndrome
  • acute chest syndrome in sickle cell disease
- elite association - COSMIC cancer census association via MalaCards
Search NOS3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NOS3_HUMAN
  • Note=Variation Asp-298 in NOS3 may be associated with susceptibility to coronary spasm. {ECO:0000269 PubMed:11740345, ECO:0000269 PubMed:9737779}.

Additional Disease Information for NOS3

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NOS3: view

No data available for Genatlas for NOS3 Gene

Publications for NOS3 Gene

  1. Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy. (PMID: 11394896) Jáchymová M … Martásek P (Biochemical and biophysical research communications 2001) 3 22 40 72
  2. CDK5 phosphorylates eNOS at Ser-113 and regulates NO production. (PMID: 20213743) Lee CH … Lu PJ (Journal of cellular biochemistry 2010) 3 4 22
  3. Gene polymorphisms in association with emerging cardiovascular risk markers in adult women. (PMID: 20078877) Fan AZ … Mokdad AH (BMC medical genetics 2010) 3 22 40
  4. EDNRA variants associate with smooth muscle mRNA levels, cell proliferation rates, and cystic fibrosis pulmonary disease severity. (PMID: 20028935) Darrah R … Drumm ML (Physiological genomics 2010) 3 22 40
  5. Endothelial nitric oxide synthase gene polymorphisms and the risk of silent brain infarction. (PMID: 20372828) Song J … Kim NK (International journal of molecular medicine 2010) 3 22 40

Products for NOS3 Gene

  • Addgene plasmids for NOS3

Sources for NOS3 Gene