• Gene id: 4846

Gene Summary

• Gene Symbol: NOS3   Gene   UCSC   Ensembl
• Aliases: ECNOS, eNOS
• Gene name: nitric oxide synthase 3
• Alternate names: nitric oxide synthase, endothelial, EC-NOS, NOS type III, NOSIII, cNOS, constitutive NOS, endothelial NOS, nitric oxide synthase 3 (endothelial cell), nitric oxide synthase 3 transcript variant eNOS-delta20, nitric oxide synthase 3 transcript variant eNOS,
• Gene location: 7q36.1 (150991055: 151014598)     Exons: 28     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 163729

SNPs

rs2070744

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.150992991C>T
NC_000007.13   g.150690079C>T
NG_011992.1   g.6933C>T
NG_055511.1   g.4870C>T|SEQ=[C/T]|GENE=NOS3

rs1799983

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.150999023T>A
NC_000007.14   g.150999023T>G
NC_000007.13   g.150696111T>A
NC_000007.13   g.150696111T>G
NG_011992.1   g.12965T>A
NG_011992.1   g.12965T>G
NM_000603.5   c.894T>A
NM_000603.5   c.894T>G
NM_000603.4   c.894T>A
NM_000603.4   c.894T>G
NM_00116  

Protein Summary

• Protein general information: P29474  
  • Name: Nitric oxide synthase, endothelial (EC 1.14.13.39) (Constitutive NOS) (cNOS) (EC NOS) (Endothelial NOS) (eNOS) (NOS type III) (NOSIII)
  • Length: 1203  
  • Mass: 133,275
  • Tissue specificity: Detected in blood plasma (at protein level). Widely expressed, with most abundant expression in human adult heart, lung, lymphoblasts, and placenta as well as fetal lung, liver, and kidney. In embryo, expressed in the outflow tract and
• Sequence:

  MGNLKSVAQEPGPPCGLGLGLGLGLCGKQGPATPAPEPSRAPASLLPPAPEHSPPSSPLTQPPEGPKFPRVKNWE
  VGSITYDTLSAQAQQDGPCTPRRCLGSLVFPRKLQGRPSPGPPAPEQLLSQARDFINQYYSSIKRSGSQAHEQRL
  QEVEAEVAATGTYQLRESELVFGAKQAWRNAPRCVGRIQWGKLQVFDARDCRSAQEMFTYICNHIKYATNRGNLR
  SAITVFPQRCPGRGDFRIWNSQLVRYAGYRQQDGSVRGDPANVEITELCIQHGWTPGNGRFDVLPLLLQAPDDPP
  ELFLLPPELVLEVPLEHPTLEWFAALGLRWYALPAVSNMLLEIGGLEFPAAPFSGWYMSTEIGTRNLCDPHRYNI
  LEDVAVCMDLDTRTTSSLWKDKAAVEINVAVLHSYQLAKVTIVDHHAATASFMKHLENEQKARGGCPADWAWIVP
  PISGSLTPVFHQEMVNYFLSPAFRYQPDPWKGSAAKGTGITRKKTFKEVANAVKISASLMGTVMAKRVKATILYG
  SETGRAQSYAQQLGRLFRKAFDPRVLCMDEYDVVSLEHETLVLVVTSTFGNGDPPENGESFAAALMEMSGPYNSS
  PRPEQHKSYKIRFNSISCSDPLVSSWRRKRKESSNTDSAGALGTLRFCVFGLGSRAYPHFCAFARAVDTRLEELG
  GERLLQLGQGDELCGQEEAFRGWAQAAFQAACETFCVGEDAKAAARDIFSPKRSWKRQRYRLSAQAEGLQLLPGL
  IHVHRRKMFQATIRSVENLQSSKSTRATILVRLDTGGQEGLQYQPGDHIGVCPPNRPGLVEALLSRVEDPPAPTE
  PVAVEQLEKGSPGGPPPGWVRDPRLPPCTLRQALTFFLDITSPPSPQLLRLLSTLAEEPREQQELEALSQDPRRY
  EEWKWFRCPTLLEVLEQFPSVALPAPLLLTQLPLLQPRYYSVSSAPSTHPGEIHLTVAVLAYRTQDGLGPLHYGV
  CSTWLSQLKPGDPVPCFIRGAPSFRLPPDPSLPCILVGPGTGIAPFRGFWQERLHDIESKGLQPTPMTLVFGCRC
  SQLDHLYRDEVQNAQQRGVFGRVLTAFSREPDNPKTYVQDILRTELAAEVHRVLCLERGHMFVCGDVTMATNVLQ
  TVQRILATEGDMELDEAGDVIGVLRDQQRYHEDIFGLTLRTQEVTSRIRTQSFSLQERQLRGAVPWAFDPPGSDT
  NSP

• Structural information:
  • Protein Domains: Flavodoxin-like. (520-703)
    FAD-binding (756-1002)
  • Interpro: IPR003097  IPR017927  IPR001094  IPR008254  IPR001709   IPR029039  IPR023173  IPR012144  IPR004030  IPR036119  IPR001433  IPR017938  
  • Prosite: PS51384 PS50902 PS60001
  • PDB: 1M9J 1M9K 1M9M 1M9Q 1M9R 1NIW 2LL7 2MG5 2N8J 3EAH 3NOS 4D1O 4D1P 5UO8 5UO9 5UOA 5UOB 5UOC 5VVB 5VVC 5VVD 5XOF
  • PDBsum: 1M9J 1M9K 1M9M 1M9Q 1M9R 1NIW 2LL7 2MG5 2N8J 3EAH 3NOS 4D1O 4D1P 5UO8 5UO9 5UOA 5UOB 5UOC 5VVB 5VVC 5VVD 5XOF
  • DIP: 38479
  • STRING: ENSP00000297494
• Other Databases: GeneCards:  NOS3  Malacards:  NOS3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0001542	ovulation from ovarian follicle	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0002028	regulation of sodium ion transport	IEA	biological process
GO:0003057	regulation of the force of heart contraction by chemical signal	IEA	biological process
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IMP	biological process
GO:0003785	actin monomer binding	IPI	molecular function
GO:0004517	nitric-oxide synthase activity	IDA	molecular function
GO:0004517	nitric-oxide synthase activity	IDA	molecular function
GO:0004517	nitric-oxide synthase activity	IMP	molecular function
GO:0004517	nitric-oxide synthase activity	IDA	molecular function
GO:0004517	nitric-oxide synthase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0006527	arginine catabolic process	IDA	biological process
GO:0006527	arginine catabolic process	IDA	biological process
GO:0006809	nitric oxide biosynthetic process	IDA	biological process
GO:0006809	nitric oxide biosynthetic process	IDA	biological process
GO:0007005	mitochondrion organization	ISS	biological process
GO:0007263	nitric oxide mediated signal transduction	IBA	biological process
GO:0008217	regulation of blood pressure	NAS	biological process
GO:0008285	negative regulation of cell proliferation	ISS	biological process
GO:0009408	response to heat	NAS	biological process
GO:0010181	FMN binding	NAS	molecular function
GO:0010544	negative regulation of platelet activation	NAS	biological process
GO:0014740	negative regulation of muscle hyperplasia	ISS	biological process
GO:0014806	smooth muscle hyperplasia	ISS	biological process
GO:0019430	removal of superoxide radicals	IDA	biological process
GO:0020037	heme binding	IDA	molecular function
GO:0030324	lung development	IEA	biological process
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0031284	positive regulation of guanylate cyclase activity	ISS	biological process
GO:0031284	positive regulation of guanylate cyclase activity	IMP	biological process
GO:0031663	lipopolysaccharide-mediated signaling pathway	IEA	biological process
GO:0034405	response to fluid shear stress	IEP	biological process
GO:0034617	tetrahydrobiopterin binding	IDA	molecular function
GO:0034618	arginine binding	IDA	molecular function
GO:0043267	negative regulation of potassium ion transport	IEA	biological process
GO:0043542	endothelial cell migration	IMP	biological process
GO:0045454	cell redox homeostasis	TAS	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0045776	negative regulation of blood pressure	IBA	biological process
GO:0045909	positive regulation of vasodilation	IBA	biological process
GO:0045909	positive regulation of vasodilation	NAS	biological process
GO:0046870	cadmium ion binding	NAS	molecular function
GO:0050660	flavin adenine dinucleotide binding	NAS	molecular function
GO:0050661	NADP binding	NAS	molecular function
GO:0050880	regulation of blood vessel size	ISS	biological process
GO:0050880	regulation of blood vessel size	NAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0051346	negative regulation of hydrolase activity	IEA	biological process
GO:0051926	negative regulation of calcium ion transport	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0097110	scaffold protein binding	IEA	molecular function
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0001542	ovulation from ovarian follicle	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001974	blood vessel remodeling	IEA	biological process
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0002028	regulation of sodium ion transport	IEA	biological process
GO:0003057	regulation of the force of heart contraction by chemical signal	IEA	biological process
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IMP	biological process
GO:0003785	actin monomer binding	IPI	molecular function
GO:0004517	nitric-oxide synthase activity	IEA	molecular function
GO:0004517	nitric-oxide synthase activity	IEA	molecular function
GO:0004517	nitric-oxide synthase activity	IEA	molecular function
GO:0004517	nitric-oxide synthase activity	IDA	molecular function
GO:0004517	nitric-oxide synthase activity	IDA	molecular function
GO:0004517	nitric-oxide synthase activity	IMP	molecular function
GO:0004517	nitric-oxide synthase activity	IDA	molecular function
GO:0004517	nitric-oxide synthase activity	TAS	molecular function
GO:0005506	iron ion binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0006527	arginine catabolic process	IDA	biological process
GO:0006527	arginine catabolic process	IDA	biological process
GO:0006809	nitric oxide biosynthetic process	IEA	biological process
GO:0006809	nitric oxide biosynthetic process	IEA	biological process
GO:0006809	nitric oxide biosynthetic process	IDA	biological process
GO:0006809	nitric oxide biosynthetic process	IDA	biological process
GO:0007005	mitochondrion organization	ISS	biological process
GO:0007263	nitric oxide mediated signal transduction	IBA	biological process
GO:0008217	regulation of blood pressure	NAS	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0008285	negative regulation of cell proliferation	ISS	biological process
GO:0009408	response to heat	NAS	biological process
GO:0010181	FMN binding	IEA	molecular function
GO:0010181	FMN binding	NAS	molecular function
GO:0010544	negative regulation of platelet activation	NAS	biological process
GO:0014740	negative regulation of muscle hyperplasia	IEA	biological process
GO:0014740	negative regulation of muscle hyperplasia	ISS	biological process
GO:0014806	smooth muscle hyperplasia	IEA	biological process
GO:0014806	smooth muscle hyperplasia	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0019430	removal of superoxide radicals	IDA	biological process
GO:0020037	heme binding	IEA	molecular function
GO:0020037	heme binding	IDA	molecular function
GO:0030324	lung development	IEA	biological process
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0031284	positive regulation of guanylate cyclase activity	ISS	biological process
GO:0031284	positive regulation of guanylate cyclase activity	IMP	biological process
GO:0031663	lipopolysaccharide-mediated signaling pathway	IEA	biological process
GO:0034405	response to fluid shear stress	IEP	biological process
GO:0034617	tetrahydrobiopterin binding	IDA	molecular function
GO:0034618	arginine binding	IDA	molecular function
GO:0043267	negative regulation of potassium ion transport	IEA	biological process
GO:0043542	endothelial cell migration	IMP	biological process
GO:0045454	cell redox homeostasis	TAS	biological process
GO:0045766	positive regulation of angiogenesis	IEA	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0045776	negative regulation of blood pressure	IBA	biological process
GO:0045909	positive regulation of vasodilation	IBA	biological process
GO:0045909	positive regulation of vasodilation	NAS	biological process
GO:0046870	cadmium ion binding	NAS	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0050660	flavin adenine dinucleotide binding	NAS	molecular function
GO:0050661	NADP binding	IEA	molecular function
GO:0050661	NADP binding	NAS	molecular function
GO:0050880	regulation of blood vessel size	IEA	biological process
GO:0050880	regulation of blood vessel size	ISS	biological process
GO:0050880	regulation of blood vessel size	NAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0051346	negative regulation of hydrolase activity	IEA	biological process
GO:0051926	negative regulation of calcium ion transport	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0097110	scaffold protein binding	IEA	molecular function
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0001974	blood vessel remodeling	ISS	biological process
GO:0003100	regulation of systemic arterial blood pressure by endothelin	IMP	biological process
GO:0003785	actin monomer binding	IPI	molecular function
GO:0004517	nitric-oxide synthase activity	IDA	molecular function
GO:0004517	nitric-oxide synthase activity	IDA	molecular function
GO:0004517	nitric-oxide synthase activity	IMP	molecular function
GO:0004517	nitric-oxide synthase activity	IDA	molecular function
GO:0004517	nitric-oxide synthase activity	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:0006527	arginine catabolic process	IDA	biological process
GO:0006527	arginine catabolic process	IDA	biological process
GO:0006809	nitric oxide biosynthetic process	IDA	biological process
GO:0006809	nitric oxide biosynthetic process	IDA	biological process
GO:0007005	mitochondrion organization	ISS	biological process
GO:0007263	nitric oxide mediated signal transduction	IBA	biological process
GO:0008217	regulation of blood pressure	NAS	biological process
GO:0008285	negative regulation of cell proliferation	ISS	biological process
GO:0009408	response to heat	NAS	biological process
GO:0010181	FMN binding	NAS	molecular function
GO:0010544	negative regulation of platelet activation	NAS	biological process
GO:0014740	negative regulation of muscle hyperplasia	ISS	biological process
GO:0014806	smooth muscle hyperplasia	ISS	biological process
GO:0019430	removal of superoxide radicals	IDA	biological process
GO:0020037	heme binding	IDA	molecular function
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0031284	positive regulation of guanylate cyclase activity	ISS	biological process
GO:0031284	positive regulation of guanylate cyclase activity	IMP	biological process
GO:0034405	response to fluid shear stress	IEP	biological process
GO:0034617	tetrahydrobiopterin binding	IDA	molecular function
GO:0034618	arginine binding	IDA	molecular function
GO:0043542	endothelial cell migration	IMP	biological process
GO:0045454	cell redox homeostasis	TAS	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:0045776	negative regulation of blood pressure	IBA	biological process
GO:0045909	positive regulation of vasodilation	IBA	biological process
GO:0045909	positive regulation of vasodilation	NAS	biological process
GO:0046870	cadmium ion binding	NAS	molecular function
GO:0050660	flavin adenine dinucleotide binding	NAS	molecular function
GO:0050661	NADP binding	NAS	molecular function
GO:0050880	regulation of blood vessel size	ISS	biological process
GO:0050880	regulation of blood vessel size	NAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:1902042	negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	ISS	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04066	HIF-1 signaling pathway
hsa04020	Calcium signaling pathway
hsa04071	Sphingolipid signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04151	PI3K-Akt signaling pathway
hsa04611	Platelet activation
hsa04915	Estrogen signaling pathway
hsa04921	Oxytocin signaling pathway
hsa04926	Relaxin signaling pathway
hsa05418	Fluid shear stress and atherosclerosis
hsa04931	Insulin resistance
hsa04933	AGE-RAGE signaling pathway in diabetic complications

Diseases

Associated diseases	References
Cancer	GAD: 19789190
Cancer (Biliary tract neoplasms)	GAD: 18676870
Cancer (bladder)	GAD: 19692168
Cancer (brain)	GAD: 19505917
Cancer (cervical)	GAD: 19012493
Cancer (colorectal)	GAD: 16820915
Cancer (esophageal)	GAD: 20453000
Cancer (glaucoma)	GAD: 15756709
Cancer (lung)	GAD: 11361058
Cancer (lymphoma)	GAD: 17149600
Cancer (meningeal)	GAD: 20406964
Cancer (non-Hodgkin lymphoma)	GAD: 16543247
Cancer (ovarian)	GAD: 12144818
Cancer (prostate)	GAD: 12195160
Cancer (breast)	GAD: 14623178
Aneurysm	GAD: 19008959
Angina pectoris	GAD: 15778808
Aortic aneurysm	GAD: 16171581
Apoplexy	GAD: 20472037
Arterial disease	GAD: 15326089
Arterial stiffness	GAD: 15233973
Atherosclerosis	GAD: 12473258
Atrial fibrillation	GAD: 12687832
Brain aneurysm	GAD: 15796389
Brain ischemia	GAD: 19028820
Buerger's disease	GAD: 17000887
Hypertension	GAD: 11967250
Intracranial aneurysm	GAD: 16467782
Hyperemia	GAD: 19481100
Cardiovascular disease	GAD: 10636255
Cardiovascular disease	GAD: 10636255
Carotid artery diseases	GAD: 12605344
Cerebrovascular disease	GAD: 14963277
Restenosis	GAD: 12899665
Peripheral vascular disease	GAD: 15255799
Thromboembolism	GAD: 15099281
Thrombosis	GAD: 15831156
Vascular disease	GAD: 12860259
Vasodilation	GAD: 12124201
Venous thrombosis	GAD: 20114041
Brain infarction	GAD: 19184759
Limb deficiency defects	GAD: 16906563
Congenital abnormalities	GAD: 18377542
Hyperhomocysteinemia	GAD: 12689917
Familial hypercholesterolemia	GAD: 12113283
Gastroschisis	GAD: 17051589
Spinal dysraphism	GAD: 19161160
Fabry disease	GAD: 12121349
Cystic fibrosis	GAD: 20028935
Homocystinuria	GAD: 14999203
Polycystic kidney disease	GAD: 11823442
Neural tube defects	GAD: 17479212
Cleft defects	GAD: 16269583
Achalasia	GAD: 16848803
Primary biliary cirrhosis	GAD: 12974901
Duodenal ulcer	GAD: 12018926
Diabetic retinopathy	GAD: 11918626
Diabetic nephropathy	GAD: 11930675
Diabetic neuropathy	GAD: 15856945
Glaucoma	GAD: 9493554
Primary open-angle glaucoma	GAD: 19815736
Retinopathy	GAD: 18568888
Platelet aggregation	GAD: 12142730
Sickle cell anemia	GAD: 14687036
Henoch-Schonlein purpura	GAD: 14760800
Kawasaki disease	GAD: 12709136
Scleroderma	GAD: 20406610
Asthma	GAD: 17351927
Allergy	GAD: 16837812
Allergy asthma	GAD: 16837812
Alopecia areata	GAD: 18608176
Antiphospholipid syndrome	GAD: 19318399
Arthritis	GAD: 18830734
Asthma	GAD: 11030378
Behcet's disease	GAD: 18718857
Behcet's disease	GAD: 19255721
Rheumatoid arthritis	GAD: 15226517
Multiple sclerosis	GAD: 11525805
Systemic lupus erythematosus (SLE)	GAD: 15517628
Systemic lupus erythematosus (SLE)	GAD: 19965945
Crohn's disease	GAD: 16634870
Albuminuria	GAD: 17563560
Hypercholesterolemia	GAD: 20602615
Insulin resistance	GAD: 12436344
Metabolic syndrome	GAD: 17110473
Obesity	GAD: 19884647
Hyperglycemia	GAD: 16919532
Diabetes	GAD: 12605344
Bone diseases	GAD: 16520888
Osteomyelitis	GAD: 16889995
Osteonecrosis	GAD: 16779830
Osteoporosis	GAD: 19520527
Fibromyalgia	GAD: 16951945
Tardive dyskinesia	GAD: 16495774
Migraine disorder	GAD: 19559392
Lewy body disease	GAD: 14639046
Stroke	GAD: 11222793
Giant cell arteritis	GAD: 14613286
Subarachnoid hemorrhage	GAD: 17043430
Alzheimer's disease	GAD: 19169966
Amyotrophic lateral sclerosis (ALS)	GAD: 18513389
Parkinson disease	GAD: 17174475
Cerebral palsy	GAD: 15718364
Attention deficit disorder conduct disorder oppositional defiant disorder	GAD: 11140838
Bipolar disorder	GAD: 15967063
Schizophrenia	GAD: 20691427
Psychological disorders	GAD: 19086053
Several psychiatric disorders	GAD: 19086053
Dementia	GAD: 11297817
Enuresis	GAD: 17365914
Kidney diseases	GAD: 12402580
Kidney diseases	GAD: 14520629
Chronic kidney failure	GAD: 12421496
Chronic renal failure	GAD: 12421496
Polycystic ovary syndrome (PCOS)	GAD: 18804337
Abortion	GAD: 20134171
Abruptio placentae	GAD: 18277167
Asthenozoospermia	GAD: 20467051
Blood coagulation disorders	GAD: 18829920
Fetal loss	GAD: 16219514
Placenta diseases	GAD: 11354626
Preeclampsia	GAD: 11408851
Placenta diseases	GAD: 11354626
Recurrent pregnancy loss (RPL)	GAD: 11473956
Preterm birth risk	GAD: 17267840
Female infertility	INFBASE: 24444339
Recurrent pregnancy loss (RPL)	INFBASE: 24085449
Oocyte quality	INFBASE: 24607880
Unexplained infertility	INFBASE: 16139338
Unexplained infertility	INFBASE: 22877939
Azoospermia	MIK: 21351530
Varicocele	MIK: 22646165
Non obstructive azoospermia	MIK: 26396575
Hypogonadotropic hypogonadism	MIK: 25228279
Asthenozoospermia	MIK: 22244784
Male factor infertility	MIK: 23419608
Male factor infertility	MIK: 24444339
Chorioamnionitis	GAD: 20452482
Erectile dysfunction	MIK: 17868426
Endometriosis	INFBASE: 18313829
Pulmonary edema	GAD: 12176955
Pulmonary function	GAD: 12406848
Pulmonary hypertension	GAD: 14682408
Chronic obstructive pulmonary disease (COPD)	GAD: 18953956
Obstructive sleep apnea	GAD: 18651156
Erythema	GAD: 17888222
Systemic sclerosis	GAD: 15168725
Connective tissue diseases	GAD: 19527514
Periodontal disease	GAD: 16881803
Multiple organ failure	GAD: 18664073
Alpha 1-antitrypsin deficiency	GAD: 17690329
Calcinosis	GAD: 18271057
Ischemia	GAD: 18396156
Proliferative diabetic retinopathy	GAD: 10741691
Vessel stenosis	GAD: 15698605
Avascular necrosis of femoral head	KEGG: H01529
Endothelial dysfunction	GAD: 12065317
Renal disease	GAD: 12138283
Priapism	GAD: 17408468
Nephropathy	GAD: 11549906
Nephropathy	GAD: 12413777
Nephrosis	GAD: 19371282
Associated with spermatogenesis and germ cell degeneration	MIK: 8902202
Asthenozoospermia	MIK: 20467051
Azoospermia	MIK: 21351530
Cryptorchidism	MIK: 28606200
Decreased sperm motility	MIK: 9848308
Erectile dysfunction	MIK: 17868426
Asthenozoospermia	MIK: 24386917
Male infertility	MIK: 24444339
Hypogonadism	MIK: 25228279
Male infertility	MIK: 11121998
Non obstructive azoospermia (NOA)	MIK: 26396575
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Varicocele	MIK: 26866567

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
26866567	Varicocele	NOS3( T-786C, G894T, and 4b/a polymorphisms)		202 (102 patients with varicocele, 100 healthy controls)	Male infertility
25517965	Male infertility	NOS3 (rs1799983), (NOS1 rs2682826, NOS1 rs1047735, NOS2 rs2297518, and NOS2 rs10459953)	Chinese	1160 (580 infertile men, 580 fertile men)	Male infertility	NOS3 NOS1 NOS2
25505202	Male infertility, Idiopathic asthenozoospermia	eNOS gene variants (T-786C, 4a4b, and G894T)	Asian, Caucasi an	682 (340 Chinese idiopathic AZS patients, 342 healthy men)	Male infertility
25228279	Late-onset hypogonadism	eNOS (Glu298Asp )		110 men affected by late-onset hypogonadism	Male infertility
24444339	Male infertility, Female infertility	rs4880, rs1799983		179 (110 infertile (58 women, 52 men))	Male infertility, Female infertility
23756085	Idiopathic male infertility	T-786C, 4A4B and G894T		601 (355 Chinese infertile patients with azoospermia or oligozoospermia, 246 healthy fertile men )	Male infertility
23419608	Idiopathic male infertility	T-786C, G894T, e 4a/b	Brazili an	409 (208 infertile men [n=74 with non-obstructive azoospermia and n=134 with severe oligozoospermia], fertile men as controls)	Male infertility
22646165	Male infertility, varicocele			60 infertile men with clinically unilateral or bilateral varicocele	Male infertility
22244784	Idiopathic asthenozoospermia			55 (29 idiopathic asthenozoospermia, 26 normospermic fertile donors)	Male infertility
26396575	Non obstructive azoospermia (NOA)			17 (10 men with NOA, 7 men with normospermia)	Male infertility
21351530	Azoospermia			27 (17 patients with idiopathic azoospermia, 10 normal men)	Male infertility
20586099	Idiopathic male infertility	eNOS (T-786C, G894T, and 4a/b)		708 (352 idiopathic infertility, 356 healthy controls)	Male infertility
18539276	Male infertility	(eNOS; -786T>C, 4a4b, and 894G>T)	Korean	491 (271 nonobstructive infertile men in azoospermia (n = 184) or ejaculate semen (n = 187), 220 fertile men )	Male infertility
17868426	Erectile dysfunction	eNOS G894T	Taiwane se	228 (151 patients with ED, 77 healthy controls)	Male infertility
11121998	Male infertility			42 (5 fertile controls, 9 NOA, 20 varicocele testes, 8 idiopathic azoopsermia )	Male infertility
24386917	Idiopathic asthenozoospermia			85 (40 infertile men with idiopathic asthenozoospermia, 45 normozoospermic fertile donors)	Male infertility
20467051	Asthenozoospermia	894G>T polymorphism (Glu298Asp variant)		130 (70 infertile men, 60 healthy men)	Male infertility	eNOS
9848308	Decreased sperm motility				Male infertility
8902202	Associated with spermatogenesis and germ cell degeneration				Male infertility
28466478	Idiopathic oligoasthenozoospermia, Male infertility	4a/4b			Male infertility
27373555	Male infertility		Asian a nd Cauc asian	3507 (1,968 cases, 1,539 controls)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R