Endometriosis Knowledgebase

Search Result

Gene id

4846

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

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-delta20-,

Gene location

7q36.1 (150991055: 151014598) Exons: 30 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 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]

OMIM

163729

SNPs

rs1799983

Strand:    Allele origin: G(germline)/T(germline)  Allele change: A/G/T   Mutation type: snp

CM000669.2   g.150999023T>A
CM000669.2   g.150999023T>G
NC_000007.13   g.150696111T>G
NC_000007.14   g.150999023T>A
NC_000007.14   g.150999023T>G
NG_011992.1   g.12965T>A
NG_011992.1   g.12965T>G
NM_000603.4   c.894T>A
NM_000603.4   c.894T>G
NM_001160109.1   c.894T>A
NM_001160109.1   c.894T>G
NM_001160110.1   c.894T>A
NM_001160110.1   c.894T>G
NM_001160111.1   c.894T>A
NM_001160111.1   c.894T>G
NP_000594.2   p.Asp298Glu
NP_001153581.1   p.Asp298Glu
NP_001153582.1   p.Asp298Glu
NP_001153583.1   p.Asp298Glu
XP_006716065.1   p.Asp298Glu
XP_016867721.1   p.Asp298Glu
XP_016867722.1   p.Asp92Glu
XP_016867723.1   p.Asp298Glu
Clinical Significance: Pathogenic

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: 133,289

Tissue specificity: Platelets, placenta, liver and kidney. {ECO

Sequence

MGNLKSVAQEPGPPCGLGLGLGLGLCGKQGPATPAPEPSRAPASLLPPAPEHSPPSSPLTQPPEGPKFPRVKNWE
VGSITYDTLSAQAQQDGPCTPRRCLGSLVFPRKLQGRPSPGPPAPEQLLSQARDFINQYYSSIKRSGSQAHEQRL
QEVEAEVAATGTYQLRESELVFGAKQAWRNAPRCVGRIQWGKLQVFDARDCRSAQEMFTYICNHIKYATNRGNLR
SAITVFPQRCPGRGDFRIWNSQLVRYAGYRQQDGSVRGDPANVEITELCIQHGWTPGNGRFDVLPLLLQAPDEPP
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 IPR012144 IPR004030 IPR001433 IPR017938
Prosite:	PS51384 PS50902 PS60001
Pfam:	PF00667 PF00258 PF00175 PF02898
PDB:	1M9J 1M9K 1M9M 1M9Q 1M9R 1NIW 2LL7 2MG5 2N8J 3EAH 3NOS 4D1O 4D1P
PDBsum:	1M9J 1M9K 1M9M 1M9Q 1M9R 1NIW 2LL7 2MG5 2N8J 3EAH 3NOS 4D1O 4D1P
DIP:	38479
MINT:	106980
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 fo llicle	IEA	biological_process
GO:0001701	in utero embryonic develo pment	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 o f heart contraction by ch emical signal	IEA	biological_process
GO:0003100	regulation of systemic ar terial blood pressure by endothelin	IMP	biological_process
GO:0003785	actin monomer binding	IPI	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IDA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IDA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IMP	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IDA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	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 proces s	IDA	biological_process
GO:0006527	arginine catabolic proces s	IDA	biological_process
GO:0006809	nitric oxide biosynthetic process	IDA	biological_process
GO:0006809	nitric oxide biosynthetic process	IDA	biological_process
GO:0007005	mitochondrion organizatio n	ISS	biological_process
GO:0007263	nitric oxide mediated sig nal transduction	IBA	biological_process
GO:0008217	regulation of blood press ure	NAS	biological_process
GO:0008285	negative regulation of ce ll proliferation	ISS	biological_process
GO:0009408	response to heat	NAS	biological_process
GO:0010181	FMN binding	NAS	molecular_function
GO:0010544	negative regulation of pl atelet activation	NAS	biological_process
GO:0014740	negative regulation of mu scle hyperplasia	ISS	biological_process
GO:0014806	smooth muscle hyperplasia	ISS	biological_process
GO:0019430	removal of superoxide rad icals	IDA	biological_process
GO:0020037	heme binding	IDA	molecular_function
GO:0030324	lung development	IEA	biological_process
GO:0030666	endocytic vesicle membran e	TAS	cellular_component
GO:0031284	positive regulation of gu anylate cyclase activity	ISS	biological_process
GO:0031284	positive regulation of gu anylate cyclase activity	IMP	biological_process
GO:0031663	lipopolysaccharide-mediat ed signaling pathway	IEA	biological_process
GO:0034405	response to fluid shear s tress	IEP	biological_process
GO:0034617	tetrahydrobiopterin bindi ng	IDA	molecular_function
GO:0034618	arginine binding	IDA	molecular_function
GO:0043267	negative regulation of po tassium ion transport	IEA	biological_process
GO:0043542	endothelial cell migratio n	IMP	biological_process
GO:0045454	cell redox homeostasis	TAS	biological_process
GO:0045766	positive regulation of an giogenesis	ISS	biological_process
GO:0045776	negative regulation of bl ood pressure	IBA	biological_process
GO:0045909	positive regulation of va sodilation	IBA	biological_process
GO:0045909	positive regulation of va sodilation	NAS	biological_process
GO:0046870	cadmium ion binding	NAS	molecular_function
GO:0050660	flavin adenine dinucleoti de binding	NAS	molecular_function
GO:0050661	NADP binding	NAS	molecular_function
GO:0050880	regulation of blood vesse l size	ISS	biological_process
GO:0050880	regulation of blood vesse l size	NAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0051346	negative regulation of hy drolase activity	IEA	biological_process
GO:0051926	negative regulation of ca lcium ion transport	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0097110	scaffold protein binding	IEA	molecular_function
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in 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 fo llicle	IEA	biological_process
GO:0001701	in utero embryonic develo pment	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 o f heart contraction by ch emical signal	IEA	biological_process
GO:0003100	regulation of systemic ar terial blood pressure by endothelin	IMP	biological_process
GO:0003785	actin monomer binding	IPI	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IEA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IEA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IEA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IDA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IDA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IMP	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IDA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	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 proces s	IDA	biological_process
GO:0006527	arginine catabolic proces s	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 organizatio n	ISS	biological_process
GO:0007263	nitric oxide mediated sig nal transduction	IBA	biological_process
GO:0008217	regulation of blood press ure	NAS	biological_process
GO:0008285	negative regulation of ce ll proliferation	IEA	biological_process
GO:0008285	negative regulation of ce ll 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 pl atelet activation	NAS	biological_process
GO:0014740	negative regulation of mu scle hyperplasia	IEA	biological_process
GO:0014740	negative regulation of mu scle 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 rad icals	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 membran e	TAS	cellular_component
GO:0031284	positive regulation of gu anylate cyclase activity	ISS	biological_process
GO:0031284	positive regulation of gu anylate cyclase activity	IMP	biological_process
GO:0031663	lipopolysaccharide-mediat ed signaling pathway	IEA	biological_process
GO:0034405	response to fluid shear s tress	IEP	biological_process
GO:0034617	tetrahydrobiopterin bindi ng	IDA	molecular_function
GO:0034618	arginine binding	IDA	molecular_function
GO:0043267	negative regulation of po tassium ion transport	IEA	biological_process
GO:0043542	endothelial cell migratio n	IMP	biological_process
GO:0045454	cell redox homeostasis	TAS	biological_process
GO:0045766	positive regulation of an giogenesis	IEA	biological_process
GO:0045766	positive regulation of an giogenesis	ISS	biological_process
GO:0045776	negative regulation of bl ood pressure	IBA	biological_process
GO:0045909	positive regulation of va sodilation	IBA	biological_process
GO:0045909	positive regulation of va sodilation	NAS	biological_process
GO:0046870	cadmium ion binding	NAS	molecular_function
GO:0046872	metal ion binding	IEA	molecular_function
GO:0050660	flavin adenine dinucleoti de binding	IEA	molecular_function
GO:0050660	flavin adenine dinucleoti de binding	NAS	molecular_function
GO:0050661	NADP binding	IEA	molecular_function
GO:0050661	NADP binding	NAS	molecular_function
GO:0050880	regulation of blood vesse l size	IEA	biological_process
GO:0050880	regulation of blood vesse l size	ISS	biological_process
GO:0050880	regulation of blood vesse l size	NAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0051346	negative regulation of hy drolase activity	IEA	biological_process
GO:0051926	negative regulation of ca lcium ion transport	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0055114	oxidation-reduction proce ss	IEA	biological_process
GO:0097110	scaffold protein binding	IEA	molecular_function
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in 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 ar terial blood pressure by endothelin	IMP	biological_process
GO:0003785	actin monomer binding	IPI	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IDA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IDA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IMP	molecular_function
GO:0004517	nitric-oxide synthase act ivity	IDA	molecular_function
GO:0004517	nitric-oxide synthase act ivity	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 proces s	IDA	biological_process
GO:0006527	arginine catabolic proces s	IDA	biological_process
GO:0006809	nitric oxide biosynthetic process	IDA	biological_process
GO:0006809	nitric oxide biosynthetic process	IDA	biological_process
GO:0007005	mitochondrion organizatio n	ISS	biological_process
GO:0007263	nitric oxide mediated sig nal transduction	IBA	biological_process
GO:0008217	regulation of blood press ure	NAS	biological_process
GO:0008285	negative regulation of ce ll proliferation	ISS	biological_process
GO:0009408	response to heat	NAS	biological_process
GO:0010181	FMN binding	NAS	molecular_function
GO:0010544	negative regulation of pl atelet activation	NAS	biological_process
GO:0014740	negative regulation of mu scle hyperplasia	ISS	biological_process
GO:0014806	smooth muscle hyperplasia	ISS	biological_process
GO:0019430	removal of superoxide rad icals	IDA	biological_process
GO:0020037	heme binding	IDA	molecular_function
GO:0030666	endocytic vesicle membran e	TAS	cellular_component
GO:0031284	positive regulation of gu anylate cyclase activity	ISS	biological_process
GO:0031284	positive regulation of gu anylate cyclase activity	IMP	biological_process
GO:0034405	response to fluid shear s tress	IEP	biological_process
GO:0034617	tetrahydrobiopterin bindi ng	IDA	molecular_function
GO:0034618	arginine binding	IDA	molecular_function
GO:0043542	endothelial cell migratio n	IMP	biological_process
GO:0045454	cell redox homeostasis	TAS	biological_process
GO:0045766	positive regulation of an giogenesis	ISS	biological_process
GO:0045776	negative regulation of bl ood pressure	IBA	biological_process
GO:0045909	positive regulation of va sodilation	IBA	biological_process
GO:0045909	positive regulation of va sodilation	NAS	biological_process
GO:0046870	cadmium ion binding	NAS	molecular_function
GO:0050660	flavin adenine dinucleoti de binding	NAS	molecular_function
GO:0050661	NADP binding	NAS	molecular_function
GO:0050880	regulation of blood vesse l size	ISS	biological_process
GO:0050880	regulation of blood vesse l size	NAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:0050999	regulation of nitric-oxid e synthase activity	TAS	biological_process
GO:1902042	negative regulation of ex trinsic apoptotic signali ng pathway via death doma in receptors	ISS	biological_process

KEGG pathways

hsa01100  Metabolic pathways
hsa04151  PI3K-Akt signaling pathway
hsa05418  Fluid shear stress and atherosclerosis
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa04066  HIF-1 signaling pathway
hsa04371  Apelin signaling pathway
hsa04915  Estrogen signaling pathway
hsa04931  Insulin resistance
hsa04071  Sphingolipid signaling pathway
hsa04611  Platelet activation
hsa04020  Calcium signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04370  VEGF signaling pathway
hsa00330  Arginine and proline metabolism
hsa00220  Arginine biosynthesis

Diseases

Associated diseases	References
Achalasia	PMID: 16848803
Allergy asthma	PMID: 16837812
Alopecia areata	PMID: 18608176
Alzheimer's disease	PMID: 11041283
Amyotrophic lateral sclerosis (ALS)	PMID: 18513389
Asthenozoospermia	PMID: 20467051
Attention-deficit hyperactivity disorder (ADHD)	PMID: 11140838
Azoospermia	PMID: 21351530
Behcet's disease	PMID: 19255721
Blood coagulation disorders	PMID: 18829920
Cancer	PMID: 19789190
Cerebral palsy	PMID: 19238444
Chronic kidney failure	PMID: 17498125
Chronic obstructive pulmonary disease (COPD)	PMID: 18953956
Chronic renal failure	PMID: 12421496
Cleft lip	PMID: 16269583
Connective tissue diseases	PMID: 19527514
Crohn's disease	PMID: 16634870
Cystic fibrosis	PMID: 20028935
Diabetes	PMID: 16928730
Diabetic nephropathy	PMID: 18476541
Diabetic retinopathy	PMID: 12724690
Down syndrome	PMID: 18377542
Endometriosis	PMID: 18313829
Erectile dysfunction	PMID: 17868426
Female infertility	PMID: 24444339
Gastroschisis	PMID: 17051589
Glaucoma	PMID: 9493554
Glomerulonephritis	PMID: 19420105
Henoch-Schonlein purpura	PMID: 14760800
Hypercholesterolemia	PMID: 12113283
Hyperemia	PMID: 19481100
Hyperglycemia	PMID: 16919532
Hypogonadotropic hypogonadism	PMID: 10636255
Idiopathic asthenozoospermia	PMID: 22244784
Idiopathic infertility	PMID: 24444339
Idiopathic male infertility	PMID: 20586099
Insulin resistance	PMID: 12436344
Kawasaki disease	PMID: 12709136
Late-onset hypogonadism(LOH)	PMID: 25228279
Limb deficiency defects	PMID: 16906563
Male infertility	PMID: 24444339
Male infertility	PMID: 25517965
Metabolic syndrome	PMID: 17110473
Migraine disorders	PMID: 19559392
Multiple sclerosis	PMID: 11525805
Nephropathy	PMID: 15532370
Neural tube defects	PMID: 17479212
Neuropathy	PMID: 15838728
Non-obstructive azoospermia (NOA)	PMID: 26396575
Obesity	PMID: 19884647
Oocyte quality	PMID: 24607880
Osteomyelitis	PMID: 16889995
Osteonecrosis	PMID: 16779830
Osteoporosis	PMID: 19520527
Female infertility	INFBASE18313829
Endometriosis	INFBASE18313829
Parkinson's disease	PMID: 17174475
Periodontal disease	PMID: 16881803
Placental abruption	PMID: 11354626
Platelet aggregation	PMID: 12142730
Polycystic kidney disease	PMID: 15628301
Polycystic ovary syndrome (PCOS)	PMID: 18804337
Preeclampsia	PMID: 12044319
Preterm delivery	PMID: 17267840
Priapism	PMID: 17408468
Psychiatric disorders	PMID: 19086053
Recurrent miscarriage	PMID: 24085449
Renal disease	PMID: 11067831
Rheumatoid arthritis	PMID: 15226517
Sickle cell anemia	PMID: 16305685
Sleep apnea	PMID: 18651156
Spinal dysraphism	PMID: 19161160
Systemic lupus erythematosus	PMID: 15119548
Systemic sclerosis	PMID: 15530459
Tardive dyskinesia	PMID: 16495774
Unexplained infertility	PMID: 16139338
Unexplained infertility	PMID: 24504178
Varicocele	PMID: 22646165

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18313829	Endometrio sis	Glu298Asp, in exon7	South I ndian	442 (232 affect ed with endomet riosis, 210 con trols)			Show abstract