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Aliases for PER2 Gene

Aliases for PER2 Gene

  • Period Circadian Clock 2 2 3 5
  • Circadian Clock Protein PERIOD 2 3 4
  • HPER2 3 4
  • Period (Drosophila) Homolog 2 2
  • Period Homolog 2 (Drosophila) 2
  • Period Circadian Protein 2 3
  • Period Homolog 2 3
  • Period 2 3
  • KIAA0347 4
  • FASPS1 3
  • FASPS 3

External Ids for PER2 Gene

Previous GeneCards Identifiers for PER2 Gene

  • GC02M237201
  • GC02M237834
  • GC02M239168
  • GC02M239439
  • GC02M238934
  • GC02M238817
  • GC02M230943
  • GC02M239173
  • GC02M239188
  • GC02M239206

Summaries for PER2 Gene

Entrez Gene Summary for PER2 Gene

  • This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]

GeneCards Summary for PER2 Gene

PER2 (Period Circadian Clock 2) is a Protein Coding gene. Diseases associated with PER2 include advanced sleep phase syndrome, familial, 1 and advanced sleep phase syndrome. Among its related pathways are Circadian entrainment and Transcriptional misregulation in cancer. GO annotations related to this gene include transcription factor binding and transcription coactivator activity. An important paralog of this gene is PER3.

UniProtKB/Swiss-Prot for PER2 Gene

  • Transcriptional repressor 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 syndrome 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. PER1 and PER2 proteins transport CRY1 and CRY2 into the nucleus with appropriate circadian timing, but also contribute directly to repression of clock-controlled target genes through interaction with several classes of RNA-binding proteins, helicases and others transcriptional repressors. PER appears to regulate circadian control of transcription by at least three different modes. First, interacts directly with the CLOCK-ARTNL/BMAL1 at the tail end of the nascent transcript peak to recruit complexes containing the SIN3-HDAC that remodel chromatin to repress transcription. Second, brings H3K9 methyltransferases such as SUV39H1 and SUV39H2 to the E-box elements of the circadian target genes, like PER2 itself or PER1. The recruitment of each repressive modifier to the DNA seems to be very precisely temporally orchestrated by the large PER complex, the deacetylases acting before than the methyltransferases. Additionally, large PER complexes are also recruited to the target genes 3 termination site through interactions with RNA-binding proteins and helicases that may play a role in transcription termination to regulate transcription independently of CLOCK-ARTNL/BMAL1 interactions. Recruitment of large PER complexes to the elongating polymerase at PER and CRY termination sites inhibited SETX action, impeding RNA polymerase II release and thereby repressing transcriptional reinitiation. May propagate clock information to metabolic pathways via the interaction with nuclear receptors. Coactivator of PPARA and corepressor of NR1D1, binds rhythmically at the promoter of nuclear receptors target genes like ARNTL or G6PC. Directly and specifically represses PPARG proadipogenic activity by blocking PPARG recruitment to target promoters and thereby inhibiting transcriptional activation. Required for fatty acid and lipid metabolism, is involved as well in the regulation of circulating insulin levels. Plays an important role in the maintenance of cardiovascular functions through the regulation of NO and vasodilatatory prostaglandins production in aortas. Controls circadian glutamate uptake in synaptic vesicles through the regulation of VGLUT1 expression. May also be involved in the regulation of inflammatory processes. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1 and ATF4. Negatively regulates the formation of the TIMELESS-CRY1 complex by competing with TIMELESS for binding to CRY1.

Gene Wiki entry for PER2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PER2 Gene

Genomics for PER2 Gene

Regulatory Elements for PER2 Gene

Promoters for PER2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PER2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PER2 Gene

Chromosome:
2
Start:
238,244,038 bp from pter
End:
238,290,102 bp from pter
Size:
46,065 bases
Orientation:
Minus strand

Genomic View for PER2 Gene

Genes around PER2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PER2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PER2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PER2 Gene

Proteins for PER2 Gene

  • Protein details for PER2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15055-PER2_HUMAN
    Recommended name:
    Period circadian protein homolog 2
    Protein Accession:
    O15055
    Secondary Accessions:
    • A2I2P7
    • Q4ZG49
    • Q6DT41
    • Q9UQ45

    Protein attributes for PER2 Gene

    Size:
    1255 amino acids
    Molecular mass:
    136579 Da
    Quaternary structure:
    • Homodimer. Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2, ARTNL/BMAL1 or ARTNL2/BMAL2, CSNK1D and/or CSNK1E, TIMELESS, and the PER proteins. Interacts with CLOCK-ARNTL/BMAL1 (off DNA).Interacts with ARNTL2/BMAL2. Interacts directly with PER1 and PER3, and through a C-terminal domain, with CRY1 and CRY2. Interacts, via its second PAS domain, with TIMELESS in vitro. Interacts with NFIL3. Different large complexes have been identified with different repressive functions. The core of PER complexes is composed of at least PER1, PER2, PER3, CRY1, CRY2, CSNK1D and/or CSNK1E. The large PER complex involved in the repression of transcriptional termination is composed of at least PER2, CDK9, DDX5, DHX9, NCBP1 and POLR2A (active). The large PER complex involved in the histone deacetylation is composed of at least HDAC1, PER2, SFPQ and SIN3A. The large PER complex involved in the histone methylation is composed of at least PER2, CBX3, TRIM28, SUV39H1 and/or SUV39H2; CBX3 mediates the formation of the complex. Interacts with SETX; the interaction inhibits termination of circadian target genes. Interacts with the nuclear receptors HNF4A, NR1D1, NR4A2, RORA, PPARA, PPARG and THRA; the interaction with at least PPARG is ligand dependent. Interacts with PML. Interacts (phosphorylated) with BTRC and FBXW11; the interactions trigger proteasomal degradation. Interacts with NONO and SFPQ. Interacts with SIRT1 and PRKCDBP (By similarity). Interacts with MAGEL2 (By similarity).
    SequenceCaution:
    • Sequence=BAA20804.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for PER2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PER2 Gene

Proteomics data for PER2 Gene at MOPED

Post-translational modifications for PER2 Gene

  • Acetylated. Deacetylated by SIRT1, resulting in decreased protein stability.
  • Phosphorylated by CSNK1E and CSNK1D. Phosphorylation results in PER2 protein degradation. May be dephosphorylated by PP1.
  • Ubiquitinated, leading to its proteasomal degradation. Ubiquitination may be inhibited by CRY1.
  • Ubiquitination at Lys 384
  • Modification sites at PhosphoSitePlus

Other Protein References for PER2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PER2 Gene

Domains & Families for PER2 Gene

Protein Domains for PER2 Gene

Suggested Antigen Peptide Sequences for PER2 Gene

Graphical View of Domain Structure for InterPro Entry

O15055

UniProtKB/Swiss-Prot:

PER2_HUMAN :
  • Contains 1 PAC (PAS-associated C-terminal) domain.
Domain:
  • Contains 1 PAC (PAS-associated C-terminal) domain.
  • Contains 2 PAS (PER-ARNT-SIM) domains.
genes like me logo Genes that share domains with PER2: view

No data available for Gene Families for PER2 Gene

Function for PER2 Gene

Molecular function for PER2 Gene

GENATLAS Biochemistry:
Drosophila period gene homolog,>100kDa,related to P american,expressed in the brain potential regulator of circadian rythm,paralog of PER1
UniProtKB/Swiss-Prot Function:
Transcriptional repressor 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 syndrome 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. PER1 and PER2 proteins transport CRY1 and CRY2 into the nucleus with appropriate circadian timing, but also contribute directly to repression of clock-controlled target genes through interaction with several classes of RNA-binding proteins, helicases and others transcriptional repressors. PER appears to regulate circadian control of transcription by at least three different modes. First, interacts directly with the CLOCK-ARTNL/BMAL1 at the tail end of the nascent transcript peak to recruit complexes containing the SIN3-HDAC that remodel chromatin to repress transcription. Second, brings H3K9 methyltransferases such as SUV39H1 and SUV39H2 to the E-box elements of the circadian target genes, like PER2 itself or PER1. The recruitment of each repressive modifier to the DNA seems to be very precisely temporally orchestrated by the large PER complex, the deacetylases acting before than the methyltransferases. Additionally, large PER complexes are also recruited to the target genes 3 termination site through interactions with RNA-binding proteins and helicases that may play a role in transcription termination to regulate transcription independently of CLOCK-ARTNL/BMAL1 interactions. Recruitment of large PER complexes to the elongating polymerase at PER and CRY termination sites inhibited SETX action, impeding RNA polymerase II release and thereby repressing transcriptional reinitiation. May propagate clock information to metabolic pathways via the interaction with nuclear receptors. Coactivator of PPARA and corepressor of NR1D1, binds rhythmically at the promoter of nuclear receptors target genes like ARNTL or G6PC. Directly and specifically represses PPARG proadipogenic activity by blocking PPARG recruitment to target promoters and thereby inhibiting transcriptional activation. Required for fatty acid and lipid metabolism, is involved as well in the regulation of circulating insulin levels. Plays an important role in the maintenance of cardiovascular functions through the regulation of NO and vasodilatatory prostaglandins production in aortas. Controls circadian glutamate uptake in synaptic vesicles through the regulation of VGLUT1 expression. May also be involved in the regulation of inflammatory processes. Represses the CLOCK-ARNTL/BMAL1 induced transcription of BHLHE40/DEC1 and ATF4. Negatively regulates the formation of the TIMELESS-CRY1 complex by competing with TIMELESS for binding to CRY1.
UniProtKB/Swiss-Prot Induction:
Oscillates diurnally. Rhythmic levels are critical for the generation of circadian rhythms in central as well as peripheral clocks. Targeted degradation of PER and CRY proteins enables the reactivation of CLOCK-ARTNL/BMAL1, thus initiating a new circadian transcriptional cycle with an intrinsic period of 24 hours.
genes like me logo Genes that share phenotypes with PER2: view

Human Phenotype Ontology for PER2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PER2 Gene

MGI Knock Outs for PER2:

Animal Model Products

miRNA for PER2 Gene

miRTarBase miRNAs that target PER2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PER2 Gene

Localization for PER2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PER2 Gene

Isoform 1: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Note=Nucleocytoplasmic shuttling is effected by interaction with other circadian core oscillator proteins and/or by phosphorylation. Translocate to the nucleus after phosphorylation by CSNK1D or CSNK1E. Also translocated to the nucleus by CRY1 or CRY2. PML regulates its nuclear localization.
Isoform 2: Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PER2 Gene COMPARTMENTS Subcellular localization image for PER2 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for PER2 Gene

Pathways & Interactions for PER2 Gene

genes like me logo Genes that share pathways with PER2: view

Pathways by source for PER2 Gene

SIGNOR curated interactions for PER2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PER2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0002931 response to ischemia ISS --
GO:0005978 glycogen biosynthetic process ISS --
GO:0006094 gluconeogenesis ISS --
GO:0006351 transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with PER2: view

Drugs & Compounds for PER2 Gene

(1) Drugs for PER2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PER2: view

Transcripts for PER2 Gene

Unigene Clusters for PER2 Gene

Period circadian clock 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PER2 Gene

No ASD Table

Relevant External Links for PER2 Gene

GeneLoc Exon Structure for
PER2
ECgene alternative splicing isoforms for
PER2

Expression for PER2 Gene

mRNA expression in normal human tissues for PER2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PER2 Gene

This gene is overexpressed in Neutrophil (66.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PER2 Gene



SOURCE GeneReport for Unigene cluster for PER2 Gene Hs.58756

mRNA Expression by UniProt/SwissProt for PER2 Gene

O15055-PER2_HUMAN
Tissue specificity: Widely expressed. Found in heart, brain, placenta, lung, liver, skeleatal muscle, kidney and pancreas. High levels in skeletal muscle and pancreas. Low levels in lung. Isoform 2 is expressed in keratinocytes (at protein level).
genes like me logo Genes that share expression patterns with PER2: view

Protein tissue co-expression partners for PER2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for PER2 Gene

Orthologs for PER2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PER2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PER2 35
  • 83.36 (n)
  • 83.24 (a)
-- 36
  • 62 (a)
OneToMany
-- 36
  • 81 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PER2 35
  • 80.03 (n)
  • 76.54 (a)
PER2 36
  • 73 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Per2 35
  • 80.57 (n)
  • 79.39 (a)
Per2 16
Per2 36
  • 74 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PER2 35
  • 95.64 (n)
  • 94.9 (a)
PER2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Per2 35
  • 79.92 (n)
  • 78.82 (a)
oppossum
(Monodelphis domestica)
Mammalia PER2 36
  • 40 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PER2 36
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves PER2 35
  • 63.73 (n)
  • 62.06 (a)
PER2 36
  • 56 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PER2 36
  • 52 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.20377 35
zebrafish
(Danio rerio)
Actinopterygii per2 35
  • 59.51 (n)
  • 54.76 (a)
per2 36
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta per 36
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea lin-42 36
  • 15 (a)
OneToMany
Species with no ortholog for PER2:
  • 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)

Evolution for PER2 Gene

ENSEMBL:
Gene Tree for PER2 (if available)
TreeFam:
Gene Tree for PER2 (if available)

Paralogs for PER2 Gene

Paralogs for PER2 Gene

(2) SIMAP similar genes for PER2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with PER2: view

Variants for PER2 Gene

Sequence variations from dbSNP and Humsavar for PER2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs934945 - 238,246,412(-) AAATG(A/G)ATCCC reference, missense
VAR_029080 Advanced sleep phase syndrome, familial, 1 (FASPS1)
VAR_036041 A breast cancer sample
rs35572922 - 238,277,924(+) TTCCG(A/C/T)GTATC reference, missense
rs4429421 - 238,255,792(+) GAGTA(C/T)CTCCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PER2 Gene

Variant ID Type Subtype PubMed ID
nsv876067 CNV Loss 21882294
esv2721756 CNV Deletion 23290073
esv2721757 CNV Deletion 23290073

Variation tolerance for PER2 Gene

Residual Variation Intolerance Score: 68% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.71; 73.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PER2 Gene

HapMap Linkage Disequilibrium report
PER2
Human Gene Mutation Database (HGMD)
PER2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PER2 Gene

Disorders for PER2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PER2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
advanced sleep phase syndrome, familial, 1
  • familial advanced sleep phase syndrome 1
advanced sleep phase syndrome
  • familial advanced sleep-phase syndrome
setx
sleep disorder
  • non-organic sleep disorder
delayed sleep phase syndrome
  • delayed sleep phase syndrome, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search PER2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PER2_HUMAN
  • Advanced sleep phase syndrome, familial, 1 (FASPS1) [MIM:604348]: A disorder characterized by very early sleep onset and offset. Individuals are morning larks with a 4 hours advance of the sleep, temperature and melatonin rhythms. {ECO:0000269 PubMed:11232563}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PER2

Genetic Association Database (GAD)
PER2
Human Genome Epidemiology (HuGE) Navigator
PER2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PER2
genes like me logo Genes that share disorders with PER2: view

No data available for Genatlas for PER2 Gene

Publications for PER2 Gene

  1. Two period homologs: circadian expression and photic regulation in the suprachiasmatic nuclei. (PMID: 9427249) Shearman L.P. … Reppert S.M. (Neuron 1997) 2 3 4 67
  2. Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CLOCK and VIP with bipolar disorder. (PMID: 20072116) Soria V. … Urretavizcaya M. (Neuropsychopharmacology 2010) 3 23
  3. Deregulated expression of the Per1 and Per2 in human gliomas. (PMID: 20481271) Xia H.C. … Wang F. (Can J Neurol Sci 2010) 3 23
  4. PERIOD2 variants are associated with abdominal obesity, psycho-behavioral factors, and attrition in the dietary treatment of obesity. (PMID: 20497782) Garaulet M. … Ordovas J.M. (J Am Diet Assoc 2010) 3 23
  5. Expression profiles of PERIOD1, 2, and 3 in peripheral blood mononuclear cells from older subjects. (PMID: 19013183) Hida A. … Mishima K. (Life Sci. 2009) 3 23

Products for PER2 Gene

Sources for PER2 Gene

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