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NOS3 (nitric oxide synthase 3)

Identity

Alias_namesnitric oxide synthase 3 (endothelial cell)
Alias_symbol (synonym)ECNOS
eNOS
Other alias
HGNC (Hugo) NOS3
LocusID (NCBI) 4846
Atlas_Id 41554
Location 7q36.1  [Link to chromosome band 7q36]
Location_base_pair Starts at 150991056 and ends at 151014599 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ABCB8 (7q36.1) / NOS3 (7q36.1)HLA-DPB1 (6p21.32) / NOS3 (7q36.1)NES (1q23.1) / NOS3 (7q36.1)
ABCB8 7q36.1 / NOS3 7q36.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NOS3   7876
Cards
Entrez_Gene (NCBI)NOS3  4846  nitric oxide synthase 3
AliasesECNOS; eNOS
GeneCards (Weizmann)NOS3
Ensembl hg19 (Hinxton)ENSG00000164867 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000164867 [Gene_View]  chr7:150991056-151014599 [Contig_View]  NOS3 [Vega]
ICGC DataPortalENSG00000164867
TCGA cBioPortalNOS3
AceView (NCBI)NOS3
Genatlas (Paris)NOS3
WikiGenes4846
SOURCE (Princeton)NOS3
Genetics Home Reference (NIH)NOS3
Genomic and cartography
GoldenPath hg38 (UCSC)NOS3  -     chr7:150991056-151014599 +  7q36.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NOS3  -     7q36.1   [Description]    (hg19-Feb_2009)
EnsemblNOS3 - 7q36.1 [CytoView hg19]  NOS3 - 7q36.1 [CytoView hg38]
Mapping of homologs : NCBINOS3 [Mapview hg19]  NOS3 [Mapview hg38]
OMIM104300   145500   163729   189800   601367   
Gene and transcription
Genbank (Entrez)AF400594 AI082109 AK223636 AK225827 AK292928
RefSeq transcript (Entrez)NM_000603 NM_001160109 NM_001160110 NM_001160111
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NOS3
Cluster EST : UnigeneHs.647092 [ NCBI ]
CGAP (NCI)Hs.647092
Alternative Splicing GalleryENSG00000164867
Gene ExpressionNOS3 [ NCBI-GEO ]   NOS3 [ EBI - ARRAY_EXPRESS ]   NOS3 [ SEEK ]   NOS3 [ MEM ]
Gene Expression Viewer (FireBrowse)NOS3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4846
GTEX Portal (Tissue expression)NOS3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP29474   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP29474  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP29474
Splice isoforms : SwissVarP29474
Catalytic activity : Enzyme1.14.13.39 [ Enzyme-Expasy ]   1.14.13.391.14.13.39 [ IntEnz-EBI ]   1.14.13.39 [ BRENDA ]   1.14.13.39 [ KEGG ]   
PhosPhoSitePlusP29474
Domaine pattern : Prosite (Expaxy)FAD_FR (PS51384)    FLAVODOXIN_LIKE (PS50902)    NOS (PS60001)   
Domains : Interpro (EBI)FAD-binding_1    Fd_Rdtase_FAD-bd    Flavdoxin-like    Flavodoxin/NO_synth    Flavoprot_Pyr_Nucl_cyt_Rdtase    Flavoprotein-like_dom    NADPH_Cyt_P450_Rdtase_dom3    NOS_euk    NOS_N    OxRdtase_FAD/NAD-bd    Riboflavin_synthase-like_b-brl   
Domain families : Pfam (Sanger)FAD_binding_1 (PF00667)    Flavodoxin_1 (PF00258)    NAD_binding_1 (PF00175)    NO_synthase (PF02898)   
Domain families : Pfam (NCBI)pfam00667    pfam00258    pfam00175    pfam02898   
Conserved Domain (NCBI)NOS3
DMDM Disease mutations4846
Blocks (Seattle)NOS3
PDB (SRS)1M9J    1M9K    1M9M    1M9Q    1M9R    1NIW    2LL7    2MG5    2N8J    3EAH    3NOS    4D1O    4D1P   
PDB (PDBSum)1M9J    1M9K    1M9M    1M9Q    1M9R    1NIW    2LL7    2MG5    2N8J    3EAH    3NOS    4D1O    4D1P   
PDB (IMB)1M9J    1M9K    1M9M    1M9Q    1M9R    1NIW    2LL7    2MG5    2N8J    3EAH    3NOS    4D1O    4D1P   
PDB (RSDB)1M9J    1M9K    1M9M    1M9Q    1M9R    1NIW    2LL7    2MG5    2N8J    3EAH    3NOS    4D1O    4D1P   
Structural Biology KnowledgeBase1M9J    1M9K    1M9M    1M9Q    1M9R    1NIW    2LL7    2MG5    2N8J    3EAH    3NOS    4D1O    4D1P   
SCOP (Structural Classification of Proteins)1M9J    1M9K    1M9M    1M9Q    1M9R    1NIW    2LL7    2MG5    2N8J    3EAH    3NOS    4D1O    4D1P   
CATH (Classification of proteins structures)1M9J    1M9K    1M9M    1M9Q    1M9R    1NIW    2LL7    2MG5    2N8J    3EAH    3NOS    4D1O    4D1P   
SuperfamilyP29474
Human Protein AtlasENSG00000164867
Peptide AtlasP29474
HPRD01224
IPIIPI00218845   IPI00946061   IPI00930307   IPI00930257   IPI00945889   IPI00930573   
Protein Interaction databases
DIP (DOE-UCLA)P29474
IntAct (EBI)P29474
FunCoupENSG00000164867
BioGRIDNOS3
STRING (EMBL)NOS3
ZODIACNOS3
Ontologies - Pathways
QuickGOP29474
Ontology : AmiGOGolgi membrane  angiogenesis  ovulation from ovarian follicle  in utero embryonic development  blood vessel remodeling  regulation of sodium ion transport  regulation of the force of heart contraction by chemical signal  regulation of systemic arterial blood pressure by endothelin  actin monomer binding  NADPH-hemoprotein reductase activity  nitric-oxide synthase activity  nitric-oxide synthase activity  nitric-oxide synthase activity  iron ion binding  protein binding  calmodulin binding  nucleus  cytoplasm  cytosol  cytoskeleton  plasma membrane  caveola  arginine catabolic process  nitric oxide biosynthetic process  mitochondrion organization  nitric oxide mediated signal transduction  regulation of blood pressure  negative regulation of cell proliferation  response to heat  FMN binding  negative regulation of platelet activation  negative regulation of muscle hyperplasia  smooth muscle hyperplasia  removal of superoxide radicals  heme binding  lung development  endocytic vesicle membrane  positive regulation of guanylate cyclase activity  positive regulation of guanylate cyclase activity  lipopolysaccharide-mediated signaling pathway  response to fluid shear stress  tetrahydrobiopterin binding  arginine binding  vasodilation  negative regulation of potassium ion transport  endothelial cell migration  cell redox homeostasis  positive regulation of angiogenesis  negative regulation of blood pressure  cadmium ion binding  flavin adenine dinucleotide binding  NADP binding  regulation of blood vessel size  regulation of nitric-oxide synthase activity  negative regulation of hydrolase activity  negative regulation of calcium ion transport  oxidation-reduction process  scaffold protein binding  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  
Ontology : EGO-EBIGolgi membrane  angiogenesis  ovulation from ovarian follicle  in utero embryonic development  blood vessel remodeling  regulation of sodium ion transport  regulation of the force of heart contraction by chemical signal  regulation of systemic arterial blood pressure by endothelin  actin monomer binding  NADPH-hemoprotein reductase activity  nitric-oxide synthase activity  nitric-oxide synthase activity  nitric-oxide synthase activity  iron ion binding  protein binding  calmodulin binding  nucleus  cytoplasm  cytosol  cytoskeleton  plasma membrane  caveola  arginine catabolic process  nitric oxide biosynthetic process  mitochondrion organization  nitric oxide mediated signal transduction  regulation of blood pressure  negative regulation of cell proliferation  response to heat  FMN binding  negative regulation of platelet activation  negative regulation of muscle hyperplasia  smooth muscle hyperplasia  removal of superoxide radicals  heme binding  lung development  endocytic vesicle membrane  positive regulation of guanylate cyclase activity  positive regulation of guanylate cyclase activity  lipopolysaccharide-mediated signaling pathway  response to fluid shear stress  tetrahydrobiopterin binding  arginine binding  vasodilation  negative regulation of potassium ion transport  endothelial cell migration  cell redox homeostasis  positive regulation of angiogenesis  negative regulation of blood pressure  cadmium ion binding  flavin adenine dinucleotide binding  NADP binding  regulation of blood vessel size  regulation of nitric-oxide synthase activity  negative regulation of hydrolase activity  negative regulation of calcium ion transport  oxidation-reduction process  scaffold protein binding  negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  
Pathways : BIOCARTAActions of Nitric Oxide in the Heart [Genes]    Corticosteroids and cardioprotection [Genes]    Ion Channels and Their Functional Role in Vascular Endothelium [Genes]    Hypoxia-Inducible Factor in the Cardiovascular System [Genes]    VEGF, Hypoxia, and Angiogenesis [Genes]   
Pathways : KEGGArginine and proline metabolism    Calcium signaling pathway    HIF-1 signaling pathway    PI3K-Akt signaling pathway    VEGF signaling pathway    Estrogen signaling pathway   
NDEx NetworkNOS3
Atlas of Cancer Signalling NetworkNOS3
Wikipedia pathwaysNOS3
Orthology - Evolution
OrthoDB4846
GeneTree (enSembl)ENSG00000164867
Phylogenetic Trees/Animal Genes : TreeFamNOS3
HOVERGENP29474
HOGENOMP29474
Homologs : HomoloGeneNOS3
Homology/Alignments : Family Browser (UCSC)NOS3
Gene fusions - Rearrangements
Fusion : MitelmanABCB8/NOS3 [7q36.1/7q36.1]  [t(7;7)(q36;q36)]  
Fusion: TCGAABCB8 7q36.1 NOS3 7q36.1 BRCA LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNOS3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NOS3
dbVarNOS3
ClinVarNOS3
1000_GenomesNOS3 
Exome Variant ServerNOS3
ExAC (Exome Aggregation Consortium)NOS3 (select the gene name)
Genetic variants : HAPMAP4846
Genomic Variants (DGV)NOS3 [DGVbeta]
DECIPHERNOS3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNOS3 
Mutations
ICGC Data PortalNOS3 
TCGA Data PortalNOS3 
Broad Tumor PortalNOS3
OASIS PortalNOS3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNOS3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNOS3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)The Globin Gene Server
BioMutasearch NOS3
DgiDB (Drug Gene Interaction Database)NOS3
DoCM (Curated mutations)NOS3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NOS3 (select a term)
intoGenNOS3
Cancer3DNOS3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM104300    145500    163729    189800    601367   
Orphanet
MedgenNOS3
Genetic Testing Registry NOS3
NextProtP29474 [Medical]
TSGene4846
GENETestsNOS3
Huge Navigator NOS3 [HugePedia]
snp3D : Map Gene to Disease4846
BioCentury BCIQNOS3
ClinGenNOS3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4846
Chemical/Pharm GKB GenePA254
Clinical trialNOS3
Miscellaneous
canSAR (ICR)NOS3 (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNOS3
EVEXNOS3
GoPubMedNOS3
iHOPNOS3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:28:57 CEST 2017

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