Gene Report

Basic Info
Approved Symbol NOS1
Previous Symbol NOS
Symbol Alias nNOS
Approved Name nitric oxide synthase 1 (neuronal)
Location 12q24.22
Position chr12:117208142-117452170, -1
External Links HGNC: 7872
Entrez Gene: 4842
Ensembl: ENSG00000089250
UCSC: uc001twn.2
No. of Studies 8 (Positive: 2; Negative: 5; trend: 1)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 8)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Kittel-Schneider, S., 2014 Other variant: NOS1_Exon 1c_A/G, NOS1_Exon 1f_L/S None of the investigated polymorphisms in this gene was associated with BD. Negative Comment on Study
Okumura, T., 2010 SNP: rs41279104 We did not detect a significant association between NOS1 and BP. Negative Comment on Study
Fallin, M. D.,2005 9 SNP typed, Median D'=0.49, Median r<sup>2</sup> =0.07, 4 LD blocks, 0.2 block coverage, there exists SNP or haplotype nominal P-value < 0.01 in SZ and SNP or haplotype P-value > 0.01 and <0.05 in BP.. This gene is highly suggestive to SZ/SZA and suggestive to BP. Trend Comment on Study
Yosifova, A.,2009 SNP: rs2293051, rs2682826, rs3782206, rs3782219, rs3782221, rs532967, rs561712, rs816363 Significant association of SNP in this gene with BD in our population was observed. Positive Comment on Study
Schanze, D.,2011 SNP: rs6490121 In a German population, we found none of the GWA risk alleles associated with psychosis. Negative Comment on Study
Silberberg, G.,2010 SNP: rs41279104
Other variant: NOS1_promoter_VNTR
Polymorphisms at the promoters of NOS1_1d and NOS1_1f, previously shown to be functional in vitro, revealed no significant allelic or genotypic differences among clinical groups and showed no effect on these transcripts' expression. Negative Comment on Study
Reif, A., 2006 (a) Other variant: NOS1_promoter_VNTR, NOS1_SNP1, NOS1_exon13_SNP2, NOS1_exon15_IVS15+38C/T, NOS1_exon16_2607C/T, NOS1_exon17_2712C/T, NOS1_exon17_IVS17+15A/G, NOS1_exon18_SNP3, NOS1_exon19_IVS19+13T/G, NOS1_exon20_137244A/G, NOS1_exon21_3258C/T, NOS1_exon27_4063G/A, NOS1_exon27_4065G/A, NOS1_exon27_4154G/A, NOS1_exon27_IVS27+14T/G, NOS1_exon27_IVS27+9C/A, NOS1_exon27_SNP5, NOS1_exon29_SNP4, NOS1_exon7_IVS7-15C/G No significant association was detected. Negative Comment on Study
Buttenschon, H. N., 2004 SNP: rs2682826 rs2682826, allelic P-value = 0.980, genotypic P-value = 0.045 in Danish sample.. The allele and genotype frequencies were very similaramongcases and controls in the total and in the British sample. In the Danish sample, we believe that the slight difference in genotype frequencies is due to chance. it is still possible that other polymorphisms in the NOS1 gene could have a role in the genetic susceptibility to schizophrenia or bipolar disorder. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 64)

GO terms by PBA (count: 2)

GO terms by database search (count: 62)

Gene related KEGG pathways (count: 4)

KEGG pathways by PBA (count: 3)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 1)

BioCarta pathways by PBA (count: 0)

BioCarta pathways by database search (count: 1)

Gene related interactors from protein-protein interactions data in HPRD (count: 29)

Related other genetic factors
Gene related SNPs (count: 40)

Literature-origin SNPs (count: 10)

LD-proxies (count: 30)

Gene related CNVs (count: 0)

Gene related other variants (count: 21)

Gene related regions (count: 5)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 4)

Overlap with SZ from candidate gene intersection analysis (count: 12)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 1)

Overlap with MDD from candidate gene intersection analysis (count: 1)

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Region: chr12:117208142..117452170 View in gBrowse
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