Property Summary

NCBI Gene PubMed Count 34
PubMed Score 31.96
PubTator Score 33.57

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
Breast cancer 3099 1.11733501912305E-15
lung carcinoma 2844 5.53640398928151E-14
posterior fossa group B ependymoma 1530 1.93099225983536E-9
medulloblastoma, large-cell 6234 6.32132843884095E-8
medulloblastoma 1524 2.46927974301791E-5
glioblastoma 5572 1.01652200236301E-4
oligodendroglioma 2849 5.75441121817188E-4
Pick disease 1893 6.42560237613077E-4
lung adenocarcinoma 2714 9.52248166868283E-4
astrocytic glioma 2241 0.00232995102880043
Disease Target Count Z-score Confidence
Schizophrenia 503 4.407 2.2
Disease Target Count Z-score Confidence
Bipolar Disorder 266 3.567 1.8

Expression

  Differential Expression (10)

Disease log2 FC p
astrocytic glioma 1.600 0.002
posterior fossa group B ependymoma 1.300 0.000
oligodendroglioma 1.700 0.001
medulloblastoma -3.100 0.000
glioblastoma 1.200 0.000
medulloblastoma, large-cell -3.200 0.000
lung adenocarcinoma 1.100 0.001
lung carcinoma 1.800 0.000
Pick disease 1.600 0.001
Breast cancer -2.400 0.000

Synonym

Accession Q8IXF0 Q86US6 Q86US7 Q8IXF2 Q9BY81 Q9H323 Q9Y4L8 Neuronal PAS3
Symbols MOP6
PASD6
bHLHe12

Gene

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Dog OMA EggNOG
Cow OMA EggNOG
Pig OMA EggNOG
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

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.
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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.
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