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Relevance to Autism

Genetic association has been found between the NOS2 gene (formerly known as the NOS2A gene) and autism in a Korean population cohort (Kim et al., 2009).

Molecular Function

This gene encodes a nitric oxide synthase which is inducible by a combination o f lipopolysaccharide and certain cytokines.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Family-based association study between NOS-I and -IIA polymorphisms and autism spectrum disorders in Korean trios.
ASD
Positive Association
A genome-wide association study of autism incorporating autism diagnostic interview-revised, autism diagnostic observation schedule, and social res...
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Highly Cited
Transcriptional regulation of human inducible nitric oxide synthase (NOS2) gene by cytokines: initial analysis of the human NOS2 promoter.
Highly Cited
Detection of antibodies to thymic tissue in human serum.
Recent Recommendation
S-nitrosylation/activation of COX-2 mediates NMDA neurotoxicity.
Recent Recommendation
Nitric oxide associated with iNOS expression inhibits acetylcholinesterase activity and induces memory impairment during acute hypobaric hypoxia.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN175R001 
 frameshift_variant 
 c.2033del 
 p.Lys678ArgfsTer25 
 De novo 
  
 Simplex 
 GEN175R002 
 missense_variant 
  
 p.Gly361Ser 
 De novo 
  
 Simplex 
 GEN175R003 
 missense_variant 
 c.695G>A 
 p.Arg232His 
 De novo 
  
  
 GEN175R004 
 splice_site_variant 
 c.865-2A>G 
  
 Familial 
 Paternal 
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN175C001 
 intron_variant 
 rs8068149 
 c.2801-598C>T 
 A 
 Korean 
 Discovery 
 GEN175C002 
 synonymous_variant 
 rs1060826 
 c.2757A>G 
 p.(=) 
 Korean 
 Discovery 
 GEN175C003 
 5KB_upstream_variant 
 rs2779251 
  
  
 Discovery cohort: 2165 participants from AGRE 
 Discovery 
 GEN175C004 
 5KB_upstream_variant 
 rs2779251 
  
  
 Replication cohort: 1168 families from the Autism Genome Project (AGP) 
 Replication 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
17
Duplication
 1
 
17
Deletion
 6
 
17
Duplication
 3
 
17
Duplication
 2
 

Model Summary

Neurotoxicant-induced model of demyelination; Rapid Eye Movement Sleep regulation.

References

Type
Title
Author, Year
Primary
The protective role of nitric oxide in a neurotoxicant-induced demyelinating model.
Additional
Spontaneous sleep in mice with targeted disruptions of neuronal or inducible nitric oxide synthase genes.
Additional
Increased nitric oxide caused by the ketogenic diet reduces the onset time of kainic acid-induced seizures in ICR mice.

M_NOS2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted replacement of calmodulin-binding domain of Nos2 gene using homologous recombination.
Allele Type: Targeted (Knock out)
Strain of Origin: C57BL/6
Genetic Background: Not Specified
ES Cell Line: E14TG2a
Mutant ES Cell Line: Not Specified
Model Source: Jackson Laboratory

M_NOS2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Rapid eye movement sleep (rems)3
Decreased
Description: Decreased time spent in rapid eye movement sleep (rems);no change in diurnal variation of sleep-wake activity
Exp Paradigm: Eeg/emg theta recordings of mice on a 12:12h light/dark schedule
 Electroencephalogram/electromyogram (eeg/emg)
 8-12 weeks
Non rapid eye movement sleep (nrems) pattern3
Increased
Description: Increased slow wave activity during nrems; increase in eeg power spectrum
Exp Paradigm: Power density of eeg recordings; spectral analysis of eeg recordings
 Electroencephalogram/electromyogram (eeg/emg)
 8-12 weeks
Number of oligodendrocytes1
Increased
Description: Increased depletion of oligodendrocytes by 3.5 weeks in response to treatment with cuprizone
Exp Paradigm: Immunohistochemistry for gst-pi, a marker for mature myelinating oligodendrocytes
 Immunohistochemistry
 Unreported
Myelination1
Decreased
Description: Decreased myelin expression and increased myelin pathology in midline corpus callosum in response to cuprizone treatment
Exp Paradigm: Immunohistochemistry for myelin basic protein (mbp) and luxol fast blue/periodic acid schiff's base (lfb/pas) staining after 3-4 week treatment of cuprizone
 Immunohistochemistry
 Unreported
Seizures2
Increased
Description: Increased latency to seizure
Exp Paradigm: Susceptibility to chemically induced seizures using kainic acid in mice on normal diet (nd)
 Observation of chemically induced seizures
 Unreported
Seizures2
Decreased
Description: Decreased latency to seizure; increased severity of seizure
Exp Paradigm: Susceptibility to chemically induced seizures using kainic acid in mice on ketogenic diet (kd)
 Observation of chemically induced seizures
 Unreported
Apoptosis1
Increased
Description: Increased co-localization of tunel apoptosis markers with gst-pi markers; no localization of tunel apoptosis markers with rca a marker for microglia/macrophage
Exp Paradigm: Staining for apoptosis markers (tunel assay) with multiple cell-phenotype markers in tissue sections
 Tunel assay
 Unreported
Protein modification process1
Decreased
Description: Decrease in nitration of tyrosyl residues in coronal sections
Exp Paradigm: Nitration of tyrosyl residues
 Immunohistochemistry
 Unreported
Non rapid eye movement sleep (nrems)3
 No change
 Electroencephalogram/electromyogram (eeg/emg)
 8-12 weeks
General characteristics3
 No change
 General observations
 8-12 weeks
Cns inflammation2
 No change
 Immunohistochemistry
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Developmental profile, Emotion, Immune response, Learning & memory, Maternal behavior, Molecular profile, Motor phenotype, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure, Sensory, Social behavior





Download NOS2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
AKT1 v-akt murine thymoma viral oncogene homolog 1 207 P31749 Reporter assay
Teshima S , et al. 2004
CAV1 Caveolin-1 403980 P33724 GST
Felley-Bosco E , et al. 2000
CEBPB CCAAT/enhancer binding protein (C/EBP), beta 1051 P17676 EMSA; Luciferase reporter assay
Guo Z , et al. 2003
EGFR epidermal growth factor receptor 1956 P00533 ChIP; Luciferase reporter assay
Li CF , et al. 2011
ESR1 estrogen receptor 1 2099 P03372 Luciferase reporter assay
Nuedling S , et al. 2001
Esr2 estrogen receptor 2 (ER beta) 25149 Q62986 Luciferase reporter assay
Nuedling S , et al. 2001
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
HDAC6 histone deacetylase 6 10013 Q9UBN7 IP/WB
Sha Y , et al. 2008
HMGA1 high mobility group AT-hook 1 3159 P17096 Luciferase reporter assay; EMSA
Takamiya R , et al. 2008
JUN jun proto-oncogene 3725 P05412 EMSA
Kristof AS , et al. 2000
MECP2 methyl CpG binding protein 2 (Rett syndrome) 4204 P51608 ChIP
Angrisano T , et al. 2012
MIR939 microRNA 939 100126351 N/A Luciferase reporter assay
Guo Z , et al. 2012
NOS2 nitric oxide synthase 2, inducible 4843 P35228 X-ray crystallography
Li H , et al. 1999
SLC9A3R1 solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 9368 O14745 GST
Glynne PA , et al. 2002
Spsb1 splA/ryanodine receptor domain and SOCS box containing 1 74646 Q9D5L7 IP/WB
Kuang Z , et al. 2010
Spsb2 splA/ryanodine receptor domain and SOCS box containing 2 14794 O88838 IP/WB; NMR spectroscopy
Kuang Z , et al. 2010
Spsb4 splA/ryanodine receptor domain and SOCS box containing 4 211949 Q8R5B6 IP/WB
Kuang Z , et al. 2010
SRC v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) 6714 P12931 in vitro kinase assay; GST
Hausel P , et al. 2005
STAT1 signal transducer and activator of transcription 1, 91kDa 6772 P42224 EMSA; Supershift assay
Ganster RW , et al. 2001
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 10273 Q9UNE7 IP/WB
Sha Y , et al. 2008
UBC ubiquitin C 7316 P63279 IP/WB
Mazumdar T , et al. 2010
UCHL5 ubiquitin carboxyl-terminal hydrolase L5 51377 Q9Y5K5 IP/WB
Mazumdar T , et al. 2010
Actn4 actinin alpha 4 60595 P57780 IP; MS
Daniliuc S , et al. 2003
Adrm1 adhesion regulating molecule 1 56436 Q9JKV1 Y2H
Ratovitski EA , et al. 1999
Akap5 A kinase (PRKA) anchor protein 5 238276 D3YVF0 IP; LC-MS/MS
Samelson BK , et al. 2015
CALM1 calmodulin 1 (phosphorylase kinase, delta) 617095 P62157 Surface plasmon resonance (SPR)
Zoche M , et al. 1996
COX2 Cytochrome c oxidase subunit 2 5912281 A3E4B0 IP/WB
Xuan YT , et al. 2003
Hif1a hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 3091 Q16665 Luciferase reporter assay
Tang CH , et al. 2007
Hist4h4 histone cluster 4, H4 320332 B2RTM0 ChIP
Yu Z and Kone BC 2005
Hsf1 heat shock factor 1 15499 P38532 EMSA
Goldring CE , et al. 2000
Irf1 interferon regulatory factor 1 16362 Q3U5M1 EMSA; CAT reporter assay
Kamijo R , et al. 1994
Kalrn kalirin, RhoGEF kinase 545156 A2CG49 Y2H; GST; IP/WB
Ratovitski EA , et al. 1999
Nfkb1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1, p105 18033 P25799 ChIP-qPCR; Luciferase reporter assay
Chen LC , et al. 2012
Pin1 protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1 23988 Q9QUR7 IP/WB; GST
Liu T , et al. 2008
Pou2f1 POU domain, class 2, transcription factor 1 18986 P25425 CAT reporter assay
Lee BS , et al. 2001
Pou2f2 POU domain, class 2, transcription factor 2 18987 Q00196 DNA affinity precipitation; ChIP
Lu SC , et al. 2009
Rac1 RAS-related C3 botulinum substrate 1 19353 P63001 GST
Kuncewicz T , et al. 2001
Rac2 RAS-related C3 botulinum substrate 2 19354 Q05144 Y2H; IP/WB; GST
Kuncewicz T , et al. 2001
Usf1 upstream transcription factor 1 22278 Q810L6 EMSA
Goldring CE , et al. 2000
Usf2 upstream transcription factor 2, c-fos interacting 22282 Q64705 EMSA
Goldring CE , et al. 2000
Wt1 Wilms tumor 1 24883 P49952 Luciferase reporter assay
Johannesen J , et al. 2003

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