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NPAS2 Gene(Protein Coding)

Neuronal PAS Domain Protein 2

GCID:
GC02P100803
GIFtS:
54
Genes Participants
UDN Logo

Aliases for NPAS2 Gene

Aliases for NPAS2 Gene

  • Neuronal PAS Domain Protein 2 2 3 5
  • Class E Basic Helix-Loop-Helix Protein 9 3 4
  • Basic-Helix-Loop-Helix-PAS Protein MOP4 3 4
  • PAS Domain-Containing Protein 4 3 4
  • Member Of PAS Protein 4 3 4
  • Neuronal PAS2 3 4
  • BHLHe9 3 4
  • PASD4 3 4
  • MOP4 3 4
  • Neuronal PAS Domain-Containing Protein 2 3
  • Member Of PAS Superfamily 4 3

External Ids for NPAS2 Gene

Previous GeneCards Identifiers for NPAS2 Gene

  • GC02P099300
  • GC02P099889
  • GC02P101041
  • GC02P101058
  • GC02P100895
  • GC02P101436
  • GC02P095284

Summaries for NPAS2 Gene

Entrez Gene Summary for NPAS2 Gene

  • The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008]

GeneCards Summary for NPAS2 Gene

NPAS2 (Neuronal PAS Domain Protein 2) is a Protein Coding gene. Among its related pathways are Circadian rythm related genes and BMAL1-CLOCK,NPAS2 activates circadian gene expression. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and protein dimerization activity. An important paralog of this gene is CLOCK.

UniProtKB/Swiss-Prot for NPAS2 Gene

  • Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots circa (about) and diem (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for timegivers). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5-CACGTG-3) within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK NPAS2-ARNTL/BMAL1 ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. The NPAS2-ARNTL/BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. NPAS2 plays an important role in sleep homeostasis and in maintaining circadian behaviors in normal light/dark and feeding conditions and in the effective synchronization of feeding behavior with scheduled food availability. Regulates the gene transcription of key metabolic pathways in the liver and is involved in DNA damage response by regulating several cell cycle and DNA repair genes.

Gene Wiki entry for NPAS2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPAS2 Gene

Genomics for NPAS2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for NPAS2 Gene

Enhancers for NPAS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G100779 1.8 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -39.0 -38963 2.8 FOXA2 ATF1 MLX ZFP64 SIN3A ARID4B DMAP1 ZNF48 SLC30A9 GATA2 NPAS2 ENSG00000232034 LOC101927142 CNOT11 LOC105373508
GH02G100880 1.5 Ensembl ENCODE dbSUPER 11.3 +62.6 62635 4.1 FOXA2 MLX ARID4B DMAP1 ZNF48 YY1 TCF12 GATA2 FOS ZNF263 NPAS2 ENSG00000232034 RPL31 GC02M100833 LOC101927142
GH02G100891 1.5 Ensembl ENCODE dbSUPER 11.1 +74.0 73953 5.5 PKNOX1 ATF1 ARNT BRCA1 ZNF48 YY1 TCF12 ZNF766 GATA2 FOS NPAS2 ENSG00000232034 LOC101927142 GC02M100833
GH02G100875 1.4 Ensembl ENCODE dbSUPER 11.3 +56.0 56006 2.0 ELF3 FOXA2 MLX ZFP64 DMAP1 RAD21 YY1 CREM KLF11 CEBPB ENSG00000232034 NPAS2 GC02M100833 LOC101927142
GH02G100784 1.3 Ensembl ENCODE dbSUPER 11.5 -34.4 -34443 3.4 TBP CTCF MXI1 PKNOX1 JUN MAX RAD21 BRCA1 RFX5 ZNF316 NPAS2 ENSG00000232034 LOC101927142 LOC105373508
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NPAS2 on UCSC Golden Path with GeneCards custom track

Promoters for NPAS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120718 -151 2801 ARID4B SIN3A DMAP1 ZNF48 YY1 GLIS2 GATA2 ZNF143 ZNF263 SP5

Transcription factor binding sites by QIAGEN in the NPAS2 gene promoter:

Genomic Location for NPAS2 Gene

Chromosome:
2
Start:
100,820,151 bp from pter
End:
100,996,829 bp from pter
Size:
176,679 bases
Orientation:
Plus strand

Genomic View for NPAS2 Gene

Genes around NPAS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPAS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPAS2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NPAS2 Gene

Proteins for NPAS2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for NPAS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99743-NPAS2_HUMAN
    Recommended name:
    Neuronal PAS domain-containing protein 2
    Protein Accession:
    Q99743
    Secondary Accessions:
    • Q4ZFV9
    • Q53SQ3
    • Q86V96
    • Q99629

    Protein attributes for NPAS2 Gene

    Size:
    824 amino acids
    Molecular mass:
    91791 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    • Component of the circadian clock oscillator which includes the CRY proteins, CLOCK or NPAS2, ARNTL/BMAL1 or ARNTL2/BMAL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins. Efficient DNA binding requires dimerization with another bHLH protein. Forms a heterodimer with ARNTL/BMAL1 and this heterodimerization is required for E-box-dependent transactivation. Interacts with NCOA3, KAT2B, CREBBP and EP300.

neXtProt entry for NPAS2 Gene

Protein Expression for NPAS2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NPAS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NPAS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for NPAS2

No data available for DME Specific Peptides for NPAS2 Gene

Domains & Families for NPAS2 Gene

Gene Families for NPAS2 Gene

HGNC:

Protein Domains for NPAS2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for NPAS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NPAS2: view

No data available for UniProtKB/Swiss-Prot for NPAS2 Gene

Function for NPAS2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for NPAS2 Gene

GENATLAS Biochemistry:
neuronal PAS domain protein 2,expressed in the central nervous system
UniProtKB/Swiss-Prot EnzymeRegulation:
Carbon monoxide (CO) and the redox state of the cell can modulate the transcriptional activity of the NPAS2-ARNTL/BMAL1 heterodimer. NADH and NADPH enhance the DNA-binding activity of the heterodimer whereas CO binds the heme group in NPAS2 and inhibits the DNA-binding activity of the heterodimer.
UniProtKB/Swiss-Prot Function:
Transcriptional activator which forms a core component of the circadian clock. The circadian clock, an internal time-keeping system, regulates various physiological processes through the generation of approximately 24 hour circadian rhythms in gene expression, which are translated into rhythms in metabolism and behavior. It is derived from the Latin roots circa (about) and diem (day) and acts as an important regulator of a wide array of physiological functions including metabolism, sleep, body temperature, blood pressure, endocrine, immune, cardiovascular, and renal function. Consists of two major components: the central clock, residing in the suprachiasmatic nucleus (SCN) of the brain, and the peripheral clocks that are present in nearly every tissue and organ system. Both the central and peripheral clocks can be reset by environmental cues, also known as Zeitgebers (German for timegivers). The predominant Zeitgeber for the central clock is light, which is sensed by retina and signals directly to the SCN. The central clock entrains the peripheral clocks through neuronal and hormonal signals, body temperature and feeding-related cues, aligning all clocks with the external light/dark cycle. Circadian rhythms allow an organism to achieve temporal homeostasis with its environment at the molecular level by regulating gene expression to create a peak of protein expression once every 24 hours to control when a particular physiological process is most active with respect to the solar day. Transcription and translation of core clock components (CLOCK, NPAS2, ARNTL/BMAL1, ARNTL2/BMAL2, PER1, PER2, PER3, CRY1 and CRY2) plays a critical role in rhythm generation, whereas delays imposed by post-translational modifications (PTMs) are important for determining the period (tau) of the rhythms (tau refers to the period of a rhythm and is the length, in time, of one complete cycle). A diurnal rhythm is synchronized with the day/night cycle, while the ultradian and infradian rhythms have a period shorter and longer than 24 hours, respectively. Disruptions in the circadian rhythms contribute to the pathology of cardiovascular diseases, cancer, metabolic syndromes and aging. A transcription/translation feedback loop (TTFL) forms the core of the molecular circadian clock mechanism. Transcription factors, CLOCK or NPAS2 and ARNTL/BMAL1 or ARNTL2/BMAL2, form the positive limb of the feedback loop, act in the form of a heterodimer and activate the transcription of core clock genes and clock-controlled genes (involved in key metabolic processes), harboring E-box elements (5-CACGTG-3) within their promoters. The core clock genes: PER1/2/3 and CRY1/2 which are transcriptional repressors form the negative limb of the feedback loop and interact with the CLOCK NPAS2-ARNTL/BMAL1 ARNTL2/BMAL2 heterodimer inhibiting its activity and thereby negatively regulating their own expression. This heterodimer also activates nuclear receptors NR1D1/2 and RORA/B/G, which form a second feedback loop and which activate and repress ARNTL/BMAL1 transcription, respectively. The NPAS2-ARNTL/BMAL1 heterodimer positively regulates the expression of MAOA, F7 and LDHA and modulates the circadian rhythm of daytime contrast sensitivity by regulating the rhythmic expression of adenylate cyclase type 1 (ADCY1) in the retina. NPAS2 plays an important role in sleep homeostasis and in maintaining circadian behaviors in normal light/dark and feeding conditions and in the effective synchronization of feeding behavior with scheduled food availability. Regulates the gene transcription of key metabolic pathways in the liver and is involved in DNA damage response by regulating several cell cycle and DNA repair genes.

Gene Ontology (GO) - Molecular Function for NPAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001047 core promoter binding ISS --
GO:0003677 DNA binding IPI 9576906
GO:0003700 transcription factor activity, sequence-specific DNA binding IEA --
GO:0005515 protein binding IPI 14645221
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with NPAS2: view
genes like me logo Genes that share phenotypes with NPAS2: view

Animal Models for NPAS2 Gene

MGI Knock Outs for NPAS2:

Animal Model Products

CRISPR Products

miRNA for NPAS2 Gene

miRTarBase miRNAs that target NPAS2
Targeted motifs for NPAS2 Gene
HOMER Transcription Factor Regulatory Elements motif NPAS2
  • Consensus sequence: KCCACGTGAC Submotif: canonical Cell Type: Liver GEO ID: GSE39860

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for NPAS2 Gene

Localization for NPAS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPAS2 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPAS2 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for NPAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 14645221
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA,IPI 9576906
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with NPAS2: view

Pathways & Interactions for NPAS2 Gene

genes like me logo Genes that share pathways with NPAS2: view

Gene Ontology (GO) - Biological Process for NPAS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007417 central nervous system development TAS 9012850
GO:0007623 circadian rhythm TAS --
genes like me logo Genes that share ontologies with NPAS2: view

No data available for SIGNOR curated interactions for NPAS2 Gene

Drugs & Compounds for NPAS2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for NPAS2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NPAS2 Gene

(11) REFSEQ mRNAs :
(12) Additional mRNA sequences :
(158) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NPAS2 Gene

Neuronal PAS domain protein 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPAS2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19 ^
SP1: - - -
SP2: - - - - -
SP3:
SP4:
SP5:
SP6:

ExUns: 20 ^ 21a · 21b
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:

Relevant External Links for NPAS2 Gene

GeneLoc Exon Structure for
NPAS2
ECgene alternative splicing isoforms for
NPAS2

Expression for NPAS2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NPAS2 Gene

mRNA expression in normal human tissues for NPAS2 Gene
mRNA expression by BioGPS for NPAS2 GenemRNA expression by GTEx for NPAS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NPAS2 Gene

This gene is overexpressed in Liver (31.5), Ovary (25.2), and Salivary gland (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NPAS2 Gene



Protein tissue co-expression partners for NPAS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of NPAS2 Gene:

NPAS2

SOURCE GeneReport for Unigene cluster for NPAS2 Gene:

Hs.156832

Evidence on tissue expression from TISSUES for NPAS2 Gene

  • Lung(4.9)
  • Nervous system(4.7)
  • Intestine(3.7)
  • Kidney(3.1)
  • Pancreas(3)
  • Eye(2.9)
  • Liver(2.9)
  • Skin(2.8)
  • Heart(2.4)
genes like me logo Genes that share expression patterns with NPAS2: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPAS2 Gene

Orthologs for NPAS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for NPAS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia NPAS2 34 35
  • 99.72 (n)
dog
(Canis familiaris)
 Mammalia NPAS2 34 35
  • 89.41 (n)
cow
(Bos Taurus)
 Mammalia NPAS2 34 35
  • 88.43 (n)
mouse
(Mus musculus)
 Mammalia Npas2 34 16 35
  • 86.9 (n)
rat
(Rattus norvegicus)
 Mammalia Npas2 34
  • 86.74 (n)
oppossum
(Monodelphis domestica)
 Mammalia NPAS2 35
  • 68 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia NPAS2 35
  • 59 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves NPAS2 34 35
  • 75.56 (n)
lizard
(Anolis carolinensis)
 Reptilia NPAS2 35
  • 63 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia npas2 34
  • 64.85 (n)
zebrafish
(Danio rerio)
 Actinopterygii npas2 35
  • 46 (a)
 OneToOne
-- 34
fruit fly
(Drosophila melanogaster)
 Insecta Clk 36 35
  • 50 (a)
Species where no ortholog for NPAS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NPAS2 Gene

ENSEMBL:
Gene Tree for NPAS2 (if available)
TreeFam:
Gene Tree for NPAS2 (if available)

Paralogs for NPAS2 Gene

Paralogs for NPAS2 Gene

(8) SIMAP similar genes for NPAS2 Gene using alignment to 10 proteins:

genes like me logo Genes that share paralogs with NPAS2: view

Variants for NPAS2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for NPAS2 Gene

NPAS2_HUMAN-Q99743
Variants in NPAS2 show a susceptibility to seasonal affective disorder (SAD) [MIM:608516]. SAD is a depressive condition resulting from seasonal changes, and with diurnal preference.

Sequence variations from dbSNP and Humsavar for NPAS2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs879253743 Likely pathogenic 100,975,538(+) CTGTC(C/G)CCGGG intron-variant, reference, missense
rs1000002027 -- 100,976,864(+) AGACC(A/G)GCTTC intron-variant, nc-transcript-variant
rs1000002731 -- 100,983,579(+) CACCT(G/T)CTCCC intron-variant, utr-variant-3-prime
rs1000012549 -- 100,897,426(+) CTGTC(A/T)CTCAT intron-variant
rs1000045001 -- 100,897,601(+) ACACT(C/T)CCTTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPAS2 Gene

Variant ID Type Subtype PubMed ID
esv2667827 CNV deletion 23128226
esv2720445 CNV deletion 23290073
esv3559853 CNV deletion 23714750
esv3591761 CNV loss 21293372
nsv1072011 CNV deletion 25765185
nsv1114120 CNV deletion 24896259
nsv1136301 CNV deletion 24896259
nsv1143948 CNV deletion 24896259
nsv582532 CNV gain 21841781
nsv829584 CNV gain 20364138
nsv834315 CNV gain 17160897
nsv834316 CNV gain 17160897
nsv953496 CNV deletion 24416366

Variation tolerance for NPAS2 Gene

Residual Variation Intolerance Score: 48.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.59; 96.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NPAS2 Gene

Human Gene Mutation Database (HGMD)
NPAS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPAS2

Disorders for NPAS2 Gene

Relevant External Links for NPAS2

Genetic Association Database (GAD)
NPAS2
Human Genome Epidemiology (HuGE) Navigator
NPAS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPAS2

No disorders were found for NPAS2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NPAS2 Gene

Publications for NPAS2 Gene

  1. Non-synonymous polymorphisms in the circadian gene NPAS2 and breast cancer risk. (PMID: 17453337) Zhu Y. … Zheng T. (Breast Cancer Res. Treat. 2008) 3 4 22 46 64
  2. Ala394Thr polymorphism in the clock gene NPAS2: a circadian modifier for the risk of non-Hodgkin's lymphoma. (PMID: 17096334) Zhu Y. … Zheng T. (Int. J. Cancer 2007) 3 4 22 46 64
  3. The circadian gene NPAS2 is a novel prognostic biomarker for breast cancer. (PMID: 19649706) Yi C. … Katsaro D. (Breast Cancer Res. Treat. 2010) 3 22 46 64
  4. The circadian gene NPAS2, a putative tumor suppressor, is involved in DNA damage response. (PMID: 18819933) Hoffman A.E. … Zhu Y. (Mol. Cancer Res. 2008) 3 4 22 64
  5. Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system. (PMID: 9012850) Zhou Y.-D. … McKnight S.L. (Proc. Natl. Acad. Sci. U.S.A. 1997) 2 3 4 64

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