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Relevance to Autism

Genetic association has been found between the NPAS2 gene and autism in an AGRE cohort (Nicholas et al., 2007) as well as with seasonal affective disorder in a Caucasian-European population cohort (Partonen et al., 2007).

Molecular Function

The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH )-PAS family of transcription factors.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of Per1 and Npas2 with autistic disorder: support for the clock genes/social timing hypothesis.
ASD
Highly Cited
Regulation of CLOCK and MOP4 by nuclear hormone receptors in the vasculature: a humoral mechanism to reset a peripheral clock.
Recent Recommendation
Three circadian clock genes Per2, Arntl, and Npas2 contribute to winter depression.
SAD
Recent Recommendation
CLOCK and NPAS2 have overlapping roles in the suprachiasmatic circadian clock.

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN176C001 
 missense_variant 
 rs11541353 
 c.1412C>T 
 p.Ser471Leu 
 Caucasian-European 
 Discovery 
 GEN176C002 
 intron_variant 
 rs1811399 
 c.-23+42138C>A;c.173+41353C>A 
  
 AGRE 
 Discovery 
 GEN176C003 
 intron_variant 
 rs34705978 
 c.181+116C>T;c.376+116C>T;c.271+116C>T;c.223+116C>T 
 T>C 
 AGRE 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
Duplication
 1
 
2
Duplication
 1
 
2
Deletion-Duplication
 24
 
2
Duplication
 1
 
2
Duplication
 4
 

Model Summary

Npas2 may serve a dedicated regulatory role in the acquisition of specific types of memory.

References

Type
Title
Author, Year
Primary
Impaired cued and contextual memory in NPAS2-deficient mice.
Additional
Altered patterns of sleep and behavioral adaptability in NPAS2-deficient mice.
Additional
NPAS2 as a transcriptional regulator of non-rapid eye movement sleep: genotype and sex interactions.

M_NPAS2_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: A lacZ-neo fusion gene inserted into exon 2 of Npas2 resulting in a product lacking the region encoding the basic helix-loop-helix (bHLH) domain.
Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: 129S6/SvEvTac
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: MGI:2180392

M_NPAS2_2_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: A lacZ-neo fusion gene inserted into exon 2 of Npas2 resulting in a product lacking the region encoding the basic helix-loop-helix (bHLH) domain.
Allele Type: Knockout
Strain of Origin: Not Specified
Genetic Background: C57BL/6J
ES Cell Line: Not Specified
Mutant ES Cell Line: Not Specified
Model Source: MGI:2180392

M_NPAS2_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Tactile memory1
Decreased
Description: Decreased freezing 24 hours after training
Exp Paradigm: NA
 Modified fear conditioning test
 21-23 weeks
Cued or contextual fear conditioning: memory of cue: long term recall1
Decreased
Description: Decreased freezing 24 hours after training
Exp Paradigm: NA
 Fear conditioning test
 21-23 weeks
Cued or contextual fear conditioning: memory of context1
Decreased
Description: Decreased freezing 24 hours after training
Exp Paradigm: NA
 Fear conditioning test
 21-23 weeks
Targeted expression1
Abnormal
Description: Altered form of npas2 lacking the bhlh domain is expressed in brain
Exp Paradigm: NA
 Western blot
 Unreported
Fear response1
 No change
 Fear conditioning test
 21-23 weeks
Brain morphology1
 No change
 Histology
 Unreported
Reproductive function1
 No change
 General observations
 Unreported
Pain or nociception1
 No change
 Hot plate test
 21-23 weeks
Pain or nociception1
 No change
 Foot shock test
 21-23 weeks
 Not Reported: Communications, Developmental profile, Immune response, Maternal behavior, Neuroanatomy / ultrastructure / cytoarchitecture, Physiological parameters, Repetitive behavior, Seizure, Social behavior

M_NPAS2_2_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
Adaptation to circadian feeding behavior1
Decreased
Description: Decreased and delayed anticipatory locomotion in response to restricted feeding paradigm
Exp Paradigm: NA
 Home cage behavior
 Adult
Non rapid eye movement sleep (nrems)2
Decreased
Description: Decreased time spent in nrems sleep in the second half of the dark phase
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Sleep pattern: total nighttime sleep2
Decreased
Description: Decrease in time spent sleeping during the dark period
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Adaptation to dark phase2
Increased
Description: Increased wakefulness period
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Sleep pattern: number of sleep bouts2
Decreased
Description: Decreased number of waking bouts during the dark period
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Adaptation to circadian feeding behavior1
Decreased
Description: Decreased ability to survive under restricted feeding paradigm
Exp Paradigm: NA
 Survival analysis
 Adult
Circadian rhythms: timing/phases of locomotor activity1
Decreased
Description: Persistent decreased periodicity of wheel running under constant darkness
Exp Paradigm: NA
 Running wheel test
 Adult
Sleep pattern: sleep recovery2
Decreased
Description: Decreased recovery of nrems following sleep deprivation, decreased contribution of slow delta power during nrems after prolonged wakefulness during baseline and after sleep deprivation
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Adaptation to circadian feeding behavior1
Increased
Description: Decreased food consumption 1 week after exposure to restricted feeding paradigm
Exp Paradigm: NA
 Food intake measurements
 Adult
Rapid eye movement sleep: dark phase2
Decreased
Description: Decreased duration of rems during dark phase in males but not females
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Circadian rhythm1
Decreased
Description: Decreased internal circadian rhythmicity
Exp Paradigm: NA
 Running wheel test
 Adult
Sleep pattern: sleep recovery2
Decreased
Description: Decreased eeg power in the low delta frequency range following sleep deprivation
Exp Paradigm: NA
 Electroencephalogram (eeg)
 Adult
Adaptation to circadian feeding behavior1
Decreased
Description: Decreased body weight under restricted feeding paradigm
Exp Paradigm: NA
 Body weight measurement
 Adult
Non rapid eye movement sleep (nrems) pattern1
Decreased
Description: Delayed nrems peak and decreased time spent in nrems at night
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Sleep pattern: total nighttime sleep1
Decreased
Description: Decreased sleep in the active nocturnal period
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Adaptation to dark phase1
Abnormal
Description: Increased wheel running in the nocturnal period with delayed or absent breaks; earlier wheel running when phase of the light dark cycle advanced, increased rate of adaptation to phase advance
Exp Paradigm: NA
 Running wheel test
 Adult
Sleep pattern: sleep bout length2
Decreased
Description: Increased waking bout length
Exp Paradigm: NA
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Electroencephalogram (eeg) signature2
Decreased
Description: Decreased contribution of slow delta power during nrems, slower rate of delta power increases during wakefulness
Exp Paradigm: NA
 Electroencephalogram (eeg)
 Adult
Electroencephalogram (eeg) frequency: rhythmic2
Decreased
Description: Decreased oscillations in the sigma range, decreased surge in sigma power at the transitions, redistributed delta frequency power density, increased power in the alpha and flutter frequency range, decreased oscillations in the beta frequency range
Exp Paradigm: NA
 Electroencephalogram (eeg)
 Adult
Adaptation to sleep deprivation2
Decreased
Description: Decreased per2 levels following sleep deprivation
Exp Paradigm: Per2
 Quantitative pcr (qrt-pcr)
 Adult
Locomotor activity in diurnal cycle1
 No change
 Running wheel test
 Adult
Rapid eye movement sleep: dark phase1
 No change
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Rapid eye movement sleep: dark phase2
 No change
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Sleep pattern: total daytime sleep1
 No change
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Sleep pattern: total daytime sleep2
 No change
 Electroencephalogram/electromyogram (eeg/emg)
 Adult
Regulation of gene expression1
 No change
 Semi-quantitative pcr (qrt-pcr)
 Adult
Adaptation to sleep deprivation2
 No change
 In situ hybridization (ish)
 Adult
 Not Reported:





Download NPAS2's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 9915 Q9HBZ2 Y2H
Corominas R , et al. 2014
ARNTL aryl hydrocarbon receptor nuclear translocator-like 406 O00327 Y2H
Corominas R , et al. 2014
ARNTL aryl hydrocarbon receptor nuclear translocator-like 406 O00327 IP; LC-MS/MS
Huttlin EL , et al. 2015
ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 56938 Q8WYA1 Y2H
Corominas R , et al. 2014
ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2 56938 Q8WYA1 IP; LC-MS/MS
Huttlin EL , et al. 2015
CRX cone-rod homeobox 1406 O43186 Y2H
Corominas R , et al. 2014
EFS embryonal Fyn-associated substrate 10278 O43281 Y2H
Corominas R , et al. 2014
HESX1 Homeobox expressed in ES cells 1 8820 Q9UBX0 M2H
Ravasi T , et al. 2010
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 9146 O14964 Y2H
Corominas R , et al. 2014
RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 8045 Q02833 Y2H
Corominas R , et al. 2014
RHOXF1 Rhox homeobox family, member 1 158800 Q8NHV9 M2H
Ravasi T , et al. 2010
RPL6 ribosomal protein L6 6128 Q02878 Y2H
Wang J , et al. 2011
ZSCAN1 zinc finger and SCAN domain containing 1 284312 Q8NBB4 M2H
Ravasi T , et al. 2010
FMR1 fragile X mental retardation 1 14265 P35922 HITS-CLIP
Darnell JC , et al. 2011

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