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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PER2 Gene

protein-coding   GIFtS: 62
GCID: GC02M239188

Period Circadian Clock 2

(Previous names: period (Drosophila) homolog 2, period homolog 2 (Drosophila))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Period Circadian Clock 21 2     Period Homolog 2 (Drosophila)1
Circadian Clock Protein PERIOD 22 3     FASPS12
hPER22 3     Period 22
FASPS2 5     Period Circadian Protein 22
KIAA03473 5     Period Circadian Protein Homolog 22
Period (Drosophila) Homolog 21     Period Homolog 22

External Ids:    HGNC: 88461   Entrez Gene: 88642   Ensembl: ENSG000001323267   OMIM: 6034265   UniProtKB: O150553   

Export aliases for PER2 gene to outside databases

Previous GC identifers: GC02M237201 GC02M237834 GC02M239168 GC02M239439 GC02M238934 GC02M238817 GC02M230943 GC02M239173


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. Circadian expression in the suprachiasmatic
nucleus continues in constant darkness, and a shift in the light/dark cycle evokes a proportional shift of gene
expression in the suprachiasmatic nucleus. The specific function of this gene is not yet known. (provided by
RefSeq, Jul 2008)

GeneCards Summary for PER2 Gene: 
PER2 (period circadian clock 2) is a protein-coding gene. Diseases associated with PER2 include advanced sleep phase syndrome, and granulomatous endometritis, and among its related super-pathways are Circadian Clock and Retrograde endocannabinoid signaling. GO annotations related to this gene include protein binding transcription factor activity and signal transducer activity. An important paralog of this gene is PER3.

UniProtKB/Swiss-Prot: PER2_HUMAN, O15055
Function: Component of the circadian clock mechanism which is essential for generating circadian rhythms. Negative
element in the circadian transcriptional loop. Influences clock function by interacting with other circadian
regulatory proteins and transporting them to the nucleus. Negatively regulates CLOCK NPAS2-BMAL1 BMAL2-induced
transactivation (By similarity)

Gene Wiki entry for PER2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005120.16  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PER2 gene promoter:
         CREB   FOXJ2 (long isoform)   ATF-2   deltaCREB   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPER2 promoter sequence
   Search SABiosciences Chromatin IP Primers for PER2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PER2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q37.3   Ensembl cytogenetic band:  2q37.3   HGNC cytogenetic band: 2q37.3

PER2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PER2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M239188:  view genomic region     (about GC identifiers)

Start:
239,152,679 bp from pter      End:
239,198,743 bp from pter
Size:
46,065 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PER2_HUMAN, O15055 (See protein sequence)
Recommended Name: Period circadian protein homolog 2  
Size: 1255 amino acids; 136579 Da
Subunit: Homodimer. Component of the circadian core oscillator, which includes the CRY proteins, CLOCK or NPAS2,
BMAL1 or BMAL2, CSNK1D and/or CSNK1E, TIMELESS, and the PER proteins. Interacts directly with PER1 and PER3, and
through a C-terminal domain, with CRY1 and CRY2. Interaction with CSNK1D or CSNK1E promotes nuclear location of
PER proteins. Interacts, via its second PAS domain, with TIMELESS in vitro. Interacts with NFIL3 (By similarity).
Interacts with PML (By similarity)
Subcellular location: Nucleus (By similarity). Cytoplasm (By similarity). Cytoplasm, perinuclear region (By
similarity). Note=Mainly nuclear. Nucleocytoplasmic shuttling is effected by interaction with other circadian
core oscillator proteins and/or by phosphorylation. Retention of PER1 in the cytoplasm occurs through PER1-PER2
heterodimer formation or by interaction with CSNK1E and/or phosphorylation which appears to mask the PER nuclear
localization signal. Also translocated to the nucleus by CRY1 or CRY2 (By similarity). PML regulates its nuclear
localization (By similarity)
Sequence caution: Sequence=BAA20804.2; Type=Erroneous initiation;
Secondary accessions: A2I2P7 Q4ZG49 Q9UQ45
Alternative splicing: 2 isoforms:  O15055-1   O15055-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PER2: NX_O15055

Explore proteomics data for PER2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated by CSNK1E and CSNK1D. Phosphorylation results in PER2 protein degradation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15055

  • PER2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PER2 Protein Expression
    REFSEQ proteins: NP_073728.1  
    ENSEMBL proteins: 
     ENSP00000254657   ENSP00000348013   ENSP00000405891   ENSP00000397516   ENSP00000254658  
    Reactome Protein details: O15055
    Human Recombinant Protein Products for PER2: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for PER2
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    Novus Biologicals PER2 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PER2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0048471perinuclear region of cytoplasm IEA--

    PER2 for ontologies           About GeneDecksing



    PER2 Antibody Products: 
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    Assay Products for PER2: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PER2 
    Cloud-Clone Corp. CLIAs for PER2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR013655 PAS_fold_3
     IPR001610 PAC
     IPR000014 PAS
     IPR022728 Period_circadian-like_C

    Graphical View of Domain Structure for InterPro Entry O15055

    ProtoNet protein and cluster: O15055

    2 Blocks protein domains:
    IPB000014 PAS domain
    IPB001610 PAC motif


    UniProtKB/Swiss-Prot: PER2_HUMAN, O15055
    Similarity: Contains 1 PAC (PAS-associated C-terminal) domain
    Similarity: Contains 2 PAS (PER-ARNT-SIM) domains


    PER2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PER2_HUMAN, O15055
    Function: Component of the circadian clock mechanism which is essential for generating circadian rhythms. Negative
    element in the circadian transcriptional loop. Influences clock function by interacting with other circadian
    regulatory proteins and transporting them to the nucleus. Negatively regulates CLOCK NPAS2-BMAL1 BMAL2-induced
    transactivation (By similarity)
    Induction: Serum-induced levels in fibroblasts show circadian oscillations. Maximum levels after 1 hour
    stimulation, minimum levels after 12 hours. Another peak is then observed after 24 hours

         Genatlas biochemistry entry for PER2:
    Drosophila period gene homolog,>100kDa,related to P american,expressed in the brain potential regulator of
    circadian rythm,paralog of PER1

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000988protein binding transcription factor activity ISS--
    GO:0004871signal transducer activity IEA--
    GO:0005515protein binding ----
         
    PER2 for ontologies           About GeneDecksing


    Phenotypes:
         15/18 MGI mutant phenotypes (inferred from 7 alleles(MGI details for Per2) (see all 18):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  integument  mortality/aging  nervous system 
     no phenotypic analysis  normal  other  pigmentation  renal/urinary system 

    PER2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PER2: Per2tm1Brd Per2tm1Drw Per2tm1Ccl

       inGenious Targeting Laboratory - Custom generated mouse model solutions for PER2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PER2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PER2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PER2 

    miRNA
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate PER2 (see all 30):
    hsa-miR-30c hsa-miR-320a hsa-miR-495 hsa-miR-4328 hsa-miR-25 hsa-miR-4263 hsa-miR-30d hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidPER2 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PER2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PER2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Circadian Clock
    Circadian Clock0.40
    Circadian rhythm0.35
    BMAL1:CLOCK/NPAS2 Activates Circadian Expression0.40
    Circadian Clock in Mammals0.30
    2Circadian entrainment
    Circadian entrainment0.40
    3Influenza A
    Herpes simplex infection0.33
    4Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    5Selected targets of CREB1
    Selected targets of CREB1

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for PER2
        Selected targets of CREB1
    Selected targets of C/EBPalpha

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PER2
        Circadian Clock in Mammals

    1 BioSystems Pathway for PER2
        Diurnally regulated genes with circadian orthologs

    2        Reactome Pathways for PER2
        Circadian Clock
    BMAL1:CLOCK/NPAS2 Activates Circadian Expression


    4         Kegg Pathways  (Kegg details for PER2):
        Circadian rhythm
    Circadian entrainment
    Herpes simplex infection
    Transcriptional misregulation in cancer


    PER2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PER2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/32 Interacting proteins for PER2 (O150553 ENSP000002546574) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRY2Q49AN03, ENSP000004067514I2D: score=4 STRING: ENSP00000406751
    CSNK1DP487303, ENSP000003244644I2D: score=3 STRING: ENSP00000324464
    CSNK1EP496743, ENSP000003529294I2D: score=3 STRING: ENSP00000352929
    CLOCKO155163, ENSP000003087414I2D: score=2 STRING: ENSP00000308741
    BTRCQ9Y2973, ENSP000003592064I2D: score=1 STRING: ENSP00000359206
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007165signal transduction ----
    GO:0007623circadian rhythm IEA--

    PER2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PER2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PER2

    1 Novoseek inferred chemical compound relationship for PER2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melatonin 58.1 8 18517031 (3), 19196435 (1), 17762827 (1), 19633447 (1)

    Search CenterWatch for drugs/clinical trials and news about PER2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PER2 gene (2 alternative transcripts): 
    NM_022817.2  NM_003894.3  

    Unigene Cluster for PER2:

    Period circadian clock 2
    Hs.58756  [show with all ESTs]
    Unigene Representative Sequence: NM_022817
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254657(uc002vyc.3 uc010znv.1) ENST00000491417 ENST00000355768
    ENST00000431832 ENST00000440245(uc010znw.1) ENST00000254658(uc010fyx.1)

    miRNA
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate PER2 (see all 30):
    hsa-miR-30c hsa-miR-320a hsa-miR-495 hsa-miR-4328 hsa-miR-25 hsa-miR-4263 hsa-miR-30d hsa-miR-3921
    SwitchGear 3'UTR luciferase reporter plasmidPER2 3' UTR sequence
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    Additional mRNA sequence: 

    AB002345.2 AB012614.1 AK294876.1 AK304108.1 

    6 DOTS entries:

    DT.95160162  DT.311681  DT.75152192  DT.95187501  DT.100662827  DT.100739893 

    24/62 AceView cDNA sequences (see all 62):

    AB002345 AA905880 CA427233 AB012614 AW072761 AI860146 AI016072 AW965115 
    BM726973 BF508974 NM_003894 AL704870 BX335103 BQ877101 AW293558 NM_022817 
    BQ024539 AW072035 BF512461 BF437674 BX475872 BX348774 CK000784 C16744 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PER2 expression in normal human tissues (normalized intensities)      PER2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PER2 Expression
    About this image


    PER2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/12 selected tissues (see all 12) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Olfactory Bulb   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Telencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See PER2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PER2

    SOURCE GeneReport for Unigene cluster: Hs.58756

    UniProtKB/Swiss-Prot: PER2_HUMAN, O15055
    Tissue specificity: Widely expressed. Found in heart, brain, placenta, lung, liver, skeletal muscle, kidney and
    pancreas. High levels in skeletal muscle and pancreas. Low level in lung

        SABiosciences Expression via Pathway-Focused PCR Array including PER2: 
              Circadian Rhythms in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PER2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PER2 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Per21 , 5 period homolog 2 (Drosophila)1, 5 81.08(n)1
    80.19(a)1
      1 (46.13 cM)5
    186271  NM_011066.31  NP_035196.21 
     914159825 
    chicken
    (Gallus gallus)
    Aves PER21 period homolog 2 (Drosophila) 64.66(n)
    64(a)
      374116  NM_204262.1  NP_989593.1 
    lizard
    (Anolis carolinensis)
    Reptilia PER26
    period circadian clock 2
    54(a)
    1 ↔ 1
    3(28004348-28054259)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.203772 Transcribed sequence with weak similarity to protein more 71.91(n)    BX769639.1 
    zebrafish
    (Danio rerio)
    Actinopterygii per22 period homolog 2 (Drosophila) 76.26(n)   140633  AY171100.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta per6
    period
    14(a)
    1 → many
    X(2579613-2586813)
    worm
    (Caenorhabditis elegans)
    Secernentea lin-426
    Protein LIN-42, isoform b
    17(a)
    1 → many
    II(1233950-1244035)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PER2 gene
    PER32  PER12  
    2 SIMAP similar genes for PER2 using alignment to 5 protein entries:     PER2_HUMAN (see all proteins):
    PER1    PER3

    PER2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1223 SNPs in PER2 are shown (see all 1223)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360414
    A breast cancer sample4--see VAR_0360412 L V mis40--------
    VAR_0290804
    Advanced sleep phase syndrome, familial, 1 (FASPS1)4--see VAR_0290802 S G mis40--------
    rs1132554461,2
    F--230960207(+) GGGGCA/GCGCCA 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs1496052681,2
    --238523546(+) TCATTC/TGCAAT 1 -- ds50010--------
    rs1433517291,2
    --238523550(+) TCGCAA/CTGGAG 1 -- ds50010--------
    rs757241721,2
    F--238523688(+) AGGTGC/TGTGGA 1 -- ds50011Minor allele frequency- T:0.01EA 120
    rs1483704591,2
    C--238523694(+) GTGGAC/GGCAGA 1 -- ds50010--------
    rs790672201,2
    C,F--238523776(+) GACACG/AATTAG 1 -- ds50011Minor allele frequency- A:0.02WA 118
    rs1128750471,2
    C,F--238523951(+) AAAAAT/ATTTTT 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs1422858461,2
    --238523958(+) TTTTTA/TAAATA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PER2 (239152679 - 239198743 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for PER2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2721756CNV Deletion23290073
    esv2721757CNV Deletion23290073
    nsv876067CNV Loss21882294


    Human Gene Mutation Database (HGMD): PER2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing PER2
    DNA2.0 Custom Variant and Variant Library Synthesis for PER2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603426   
    OMIM disorders: 604348  
    UniProtKB/Swiss-Prot: PER2_HUMAN, O15055
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/34 diseases for PER2 (see all 34):    About MalaCards
    advanced sleep phase syndrome    granulomatous endometritis    sleep disorder    delayed sleep phase syndrome
    gastrointestinal system disease    ocular hypertension    cocaine dependence    bipolar i disorder
    endometritis    schizoaffective disorder    q fever    mood disorder
    autism spectrum disorder    panic disorder    bipolar disorder    obesity
    diffuse large b-cell lymphoma    dementia    chronic lymphocytic leukemia    hypertension

    1 disease from the University of Copenhagen DISEASES database for PER2:
    Sleep disorder

    PER2 for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for PER2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    advanced sleep phase syndrome 90.8 5 16979429 (1), 17633519 (1), 17218251 (1), 18419274 (1) (see all 5)
    fasps 87.4 4 17299246 (1), 18419274 (1), 16983144 (1)
    delayed sleep phase syndrome 75.6 1 16979429 (1)
    cancer 12.5 17 19926612 (3), 18651214 (3), 17660446 (2), 17971899 (1) (see all 7)
    breast cancer 12 8 15790588 (2), 17971899 (1), 17599055 (1), 20050373 (1) (see all 6)
    tumors 9.24 24 19926612 (4), 18651214 (4), 17971899 (3), 17660446 (2) (see all 9)
    obesity 0 1 20497782 (1)

    Genetic Association Database (GAD): PER2
    Human Genome Epidemiology (HuGE) Navigator: PER2 (25 documents)

    Export disorders for PER2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PER2 gene, integrated from 9 sources (see all 185):
    (articles sorted by number of sources associating them with PER2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Two period homologs: circadian expression and photic regulation in the suprachiasmatic nuclei. (PubMed id 9427249)1, 2, 3 Shearman L.P....Reppert S.M. (1997)
    2. PERIOD2 variants are associated with abdominal obesit y, psycho-behavioral factors, and attrition in the dietary treatment of obesity . (PubMed id 20497782)1, 4, 9 Garaulet M....Ordovas J.M. (2010)
    3. Human clock, PER1 and PER2 polymorphisms: lack of association with cocaine dependence susceptibility and cocaine-induced paranoia. (PubMed id 17106427)1, 4, 9 Malison R.T....Gelernter J. (2006)
    4. Testing the circadian gene hypothesis in prostate can cer: a population-based case-control study. (PubMed id 19934327)1, 4, 9 Zhu Y....Stanford J.L. (2009)
    5. Differential association of circadian genes with mood disorders: CRY1 and NPAS2 are associated with unipolar major depression and CL OCK and VIP with bipolar disorder. (PubMed id 20072116)1, 4, 9 Soria V....Urretavizcaya M. (2010)
    6. Suggestive evidence for association of the circadian genes PERIOD3 and ARNTL with bipolar disorder. (PubMed id 16528748)1, 4, 9 Nievergelt C.M....Kelsoe J.R. (2006)
    7. A single-nucleotide polymorphism in the 5'-untranslated region of the hPER2 gene is associated with diurnal preference. (PubMed id 16120104)1, 4, 9 Carpen J.D....von Schantz M. (2005)
    8. Phosphorylation of clock protein PER1 regulates its circadian degradation in normal human fibroblasts. (PubMed id 14750904)1, 2, 9 Miyazaki K.... Ishida N. (2004)
    9. Circadian clock gene polymorphisms in alcohol use dis orders and alcohol consumption. (PubMed id 20554694)1, 4 Kovanen L....Partonen T. (2010)
    10. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8864 HGNC: 8846 AceView: PER2 Ensembl:ENSG00000132326 euGenes: HUgn8864
    ECgene: PER2 Kegg: 8864 H-InvDB: PER2

    (According to HUGE)
    About This Section
    HUGE: KIAA0347

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PER2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PER2 gene:
    Search GeneIP for patents involving PER2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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