Property Summary

NCBI Gene PubMed Count 34
PubMed Score 31.96
PubTator Score 33.57

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma 1.600 2.3e-03
posterior fossa group B ependymoma 1.300 1.9e-09
oligodendroglioma 1.700 5.8e-04
medulloblastoma -3.100 2.5e-05
glioblastoma 1.200 1.0e-04
medulloblastoma, large-cell -3.200 6.3e-08
lung adenocarcinoma 1.100 9.5e-04
lung carcinoma 1.800 5.5e-14
Pick disease 1.600 6.4e-04
Breast cancer -2.400 1.1e-15

Gene RIF (19)

PMID Text
25982957 Authors hypothesize that any nucleotide variant at the NPAS3 HAEs may lead to altered susceptibility to schizophrenia.
24218632 The accelerated non-coding region 2xHAR142 of NPAS3 behaves as a developmental enhancer in the forebrain of transgenic mice.
23408798 Results indicate that the high density of HAEs present in the human NPAS3 locus could have modified the spatiotemporal expression pattern of NPAS3 in the developing human brain and, therefore, contributed to human brain evolution.
23337948 Identification of NPAS3-V304I helps strengthen the hypothesis that NPAS3 is involved in schizophrenia pathogenesis
22228753 During human postnatal cortical development, there was decreased NPAS3 mRNA yet increased NPAS3 protein expression, suggesting the involvement of posttranscriptional regulation, which results show is modified by miR-17.
21709683 In a HEK293 cell line over-expressing NPAS3, transcriptional targets varied with to circadian rhythm context & C-terminal deletion. NPAS3 contributes to neurodevelopmental transcription factor networks & the regulation of brain glucose metabolism.
21703424 Loss of NPAS3 is associated with the progression of Astrocytomas.
21306425 report of immunohistochemical findings on NPAS3 protein expression in the developing human fetal brain during the three trimesters (10-41 weeks) of gestational development
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20466522 This study identification of potentially defective NPAS3 variants supports recent studies that implicate perturbations in NPAS3 pathways in impaired neurogenesis and psychosis.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19573479 Clinical trial of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18521090 Genome-wide association study of gene-disease association. (HuGE Navigator)
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18317462 This study demonstrated that these risk and protective effects act combinatorially, potentially multiplicatively, to determine NPAS3 gene-wide susceptibility in bipolar disorder and schizophrenia.
18317462 Observational study of gene-disease association. (HuGE Navigator)
18195134 Genome-wide association study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
12746393 haploinsufficiency of NPAS3 contributes to the cause of schizophrenia

AA Sequence

MAPTKPSFQQDPSRRERITAQHPLPNQSECRKIYRYDGIYCESTYQNLQALRKEKSRDAARSRRGKENFE      1 - 70
FYELAKLLPLPAAITSQLDKASIIRLTISYLKMRDFANQGDPPWNLRMEGPPPNTSVKVIGAQRRRSPSA     71 - 140
LAIEVFEAHLGSHILQSLDGFVFALNQEGKFLYISETVSIYLGLSQVELTGSSVFDYVHPGDHVEMAEQL    141 - 210
GMKLPPGRGLLSQGTAEDGASSASSSSQSETPEPVESTSPSLLTTDNTLERSFFIRMKSTLTKRGVHIKS    211 - 280
SGYKVIHITGRLRLRVSLSHGRTVPSQIMGLVVVAHALPPPTINEVRIDCHMFVTRVNMDLNIIYCENRI    281 - 350
SDYMDLTPVDIVGKRCYHFIHAEDVEGIRHSHLDLLNKGQCVTKYYRWMQKNGGYIWIQSSATIAINAKN    351 - 420
ANEKNIIWVNYLLSNPEYKDTPMDIAQLPHLPEKTSESSETSDSESDSKDTSGITEDNENSKSDEKGNQS    421 - 490
ENSEDPEPDRKKSGNACDNDMNCNDDGHSSSNPDSRDSDDSFEHSDFENPKAGEDGFGALGAMQIKVERY    491 - 560
VESESDLRLQNCESLTSDSAKDSDSAGEAGAQASSKHQKRKKRRKRQKGGSASRRRLSSASSPGGLDAGL    561 - 630
VEPPRLLSSPNSASVLKIKTEISEPINFDNDSSIWNYPPNREISRNESPYSMTKPPSSEHFPSPQGGGGG    631 - 700
GGGGGGLHVAIPDSVLTPPGADGAAARKTQFGASATAALAPVASDPLSPPLSASPRDKHPGNGGGGGGGG    701 - 770
GGAGGGGPSASNSLLYTGDLEALQRLQAGNVVLPLVHRVTGTLAATSTAAQRVYTTGTIRYAPAEVTLAM    771 - 840
QSNLLPNAHAVNFVDVNSPGFGLDPKTPMEMLYHHVHRLNMSGPFGGAVSAASLTQMPAGNVFTTAEGLF    841 - 910
STLPFPVYSNGIHAAQTLERKED                                                   911 - 933
//

Text Mined References (34)

PMID Year Title
25982957 2015 Cumulative role of rare and common putative functional genetic variants at NPAS3 in schizophrenia susceptibility.
25240745 2014 A genome-wide association study in the genetic analysis of idiopathic thrombophilia project suggests sex-specific regulation of mitochondrial DNA levels.
24722188 2014 Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.
24535457 2014 A genome-wide association meta-analysis of plasma A? peptides concentrations in the elderly.
24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
24218632 2013 A fast-evolving human NPAS3 enhancer gained reporter expression in the developing forebrain of transgenic mice.
23817569 2013 A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
23408798 2013 The developmental brain gene NPAS3 contains the largest number of accelerated regulatory sequences in the human genome.
23337948 2014 A mutation in NPAS3 segregates with mental illness in a small family.
22228753 2013 Expression of NPAS3 in the human cortex and evidence of its posttranscriptional regulation by miR-17 during development, with implications for schizophrenia.
22228203 2012 A genome-wide association study of inflammatory biomarker changes in response to fenofibrate treatment in the Genetics of Lipid Lowering Drug and Diet Network.
21709683 2012 Transcriptional regulation of neurodevelopmental and metabolic pathways by NPAS3.
21703424 2011 NPAS3 demonstrates features of a tumor suppressive role in driving the progression of Astrocytomas.
21306425 2011 Immunohistochemical analyses of NPAS3 expression in the developing human fetal brain.
20713499 2010 Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20466522 2010 Association of NPAS3 exonic variation with schizophrenia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19573479 2009 Applicability of a genetic signature for enhanced iloperidone efficacy in the treatment of schizophrenia.
19073419 2008 Chromosome abnormalities, mental retardation and the search for genes in bipolar disorder and schizophrenia.
19073416 2008 Schizopsychotic symptom-profiles and biomarkers: beacons in diagnostic labyrinths.
18711365 2008 Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
18521090 2009 Association of the NPAS3 gene and five other loci with response to the antipsychotic iloperidone identified in a whole genome association study.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18317462 2009 Interacting haplotypes at the NPAS3 locus alter risk of schizophrenia and bipolar disorder.
18195134 2008 Genome-wide pharmacogenomic analysis of the response to interferon beta therapy in multiple sclerosis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17008307 2006 The NPAS3 gene--emerging evidence for a role in psychiatric illness.
15820313 2005 Defining a holoprosencephaly locus on human chromosome 14q13 and characterization of potential candidate genes.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12746393 2003 Disruption of the neuronal PAS3 gene in a family affected with schizophrenia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10534623 1999 Characterization of npas3, a novel basic helix-loop-helix PAS gene expressed in the developing mouse nervous system.