• Gene id: 115677

Gene Summary

• Gene Symbol: NOSTRIN   Gene   UCSC   Ensembl
• Aliases: DaIP2
• Gene name: nitric oxide synthase trafficking
• Alternate names: nostrin, BM247 homolog, ENOS traffic inducer, eNOS-trafficking inducer, endothelial nitric oxide synthase traffic inducer, nitric oxide synthase traffic inducer, nitric oxide synthase trafficker, ortholog of mouse disabled 2 interacting proein 2,
• Gene location: 2q24.3 (168786538: 168865338)     Exons: 25     NC_000002.12
• Gene summary(Entrez): Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the t
• OMIM: 607496

Protein Summary

• Protein general information: Q8IVI9  
  • Name: Nostrin (BM247 homolog) (Nitric oxide synthase traffic inducer) (Nitric oxide synthase trafficker) (eNOS trafficking inducer)
  • Length: 506  
  • Mass: 57,660
  • Tissue specificity: Expressed in thymus, testis, small intestine, colon followed by ovary. Appears to be expressed only in adult organs containing proliferating/cycling cells or in response to growth factors. Also expressed in epithelial cell lines derive
• Sequence:

  MRDPLTDCPYNKVYKNLKEFSQNGENFCKQVTSVLQQRANLEISYAKGLQKLASKLSKALQNTRKSCVSSAWAWA
  SEGMKSTADLHQKLGKAIELEAIKPTYQVLNVQEKKRKSLDNEVEKTANLVISNWNQQIKAKKKLMVSTKKHEAL
  FQLVESSKQSMTEKEKRKLLNKLTKSTEKLEKEDENYYQKNMAGYSTRLKWENTLENCYQSILELEKERIQLLCN
  NLNQYSQHISLFGQTLTTCHTQIHCAISKIDIEKDIQAVMEETAILSTENKSEFLLTDYFEEDPNSAMDKERRKS
  LLKPKLLRLQRDIEKASKDKEGLERMLKTYSSTSSFSDAKSQKDTAALMDENNLKLDLLEANSYKLSSMLAELEQ
  RPQPSHPCSNSIFRWREKEHTHSYVKISRPFLMKRLENIVSKASSGGQSNPGSSTPAPGAAQLSSRLCKALYSFQ
  ARQDDELNLEKGDIVIIHEKKEGGWWFGSLNGKKGHFPAAYVEELPSNAGNTATKA

• Structural information:
  • Protein Domains: F-BAR. (1-260)
    SH3. (438-497)
  • Interpro: IPR027267  IPR031160  IPR001060  IPR036274  IPR028535   IPR035656  IPR036028  IPR001452  
  • Prosite: PS51741 PS50002
  • CDD: cd11823
  • PDB: 2YUN
  • PDBsum: 2YUN
• Other Databases: GeneCards:  NOSTRIN  Malacards:  NOSTRIN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003677	DNA 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:0005634	nucleus	IEA	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:0006897	endocytosis	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0003677	DNA 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:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	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:0006897	endocytosis	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
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:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0050999	regulation of nitric-oxide synthase activity	TAS	biological process

Diseases

Associated diseases	References
Autism	GAD: 19401682
Azoospermia	MIK: 21351530
Azoospermia	MIK: 21351530
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21351530	Azoospermia			27 (17 patients with idiopathic azoospermia, 10 normal men)	Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)