ENSG00000132326


Homo sapiens

Features
Gene ID: ENSG00000132326
  
Biological name :PER2
  
Synonyms : O15055 / PER2 / period circadian regulator 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: -1
Band: q37.3
Gene start: 238244038
Gene end: 238290102
  
Corresponding Affymetrix probe sets: 205251_at (Human Genome U133 Plus 2.0 Array)   208518_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000405891
Ensembl peptide - ENSP00000254657
NCBI entrez gene - 8864     See in Manteia.
OMIM - 603426
RefSeq - XM_006712824
RefSeq - NM_022817
RefSeq - XM_005246111
RefSeq Peptide - NP_073728
swissprot - O15055
swissprot - E9PD89
Ensembl - ENSG00000132326
  
Related genetic diseases (OMIM): 604348 - Advanced sleep phase syndrome, familial, 1, 604348
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 per2ENSDARG00000034503Danio rerio
 PER2ENSGALG00000005521Gallus gallus
 Per2ENSMUSG00000055866Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PER1 / O15534 / period circadian regulator 1ENSG0000017909443
PER3 / P56645 / period circadian regulator 3ENSG0000004924633


Protein motifs (from Interpro)
Interpro ID Name
 IPR000014  PAS domain
 IPR013655  PAS fold-3
 IPR022728  Period circadian-like, C-terminal
 IPR035965  PAS domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II IEA
 biological_processGO:0002931 response to ischemia ISS
 biological_processGO:0005978 glycogen biosynthetic process ISS
 biological_processGO:0006094 gluconeogenesis ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006631 fatty acid metabolic process ISS
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0019229 regulation of vasoconstriction ISS
 biological_processGO:0019249 lactate biosynthetic process ISS
 biological_processGO:0031397 negative regulation of protein ubiquitination ISS
 biological_processGO:0032922 circadian regulation of gene expression ISS
 biological_processGO:0042752 regulation of circadian rhythm ISS
 biological_processGO:0042754 negative regulation of circadian rhythm ISS
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0048511 rhythmic process IEA
 biological_processGO:0050767 regulation of neurogenesis ISS
 biological_processGO:0050796 regulation of insulin secretion ISS
 biological_processGO:0050872 white fat cell differentiation ISS
 biological_processGO:0051726 regulation of cell cycle ISS
 biological_processGO:0051946 regulation of glutamate uptake involved in transmission of nerve impulse ISS
 biological_processGO:0070345 negative regulation of fat cell proliferation ISS
 biological_processGO:0070932 histone H3 deacetylation ISS
 biological_processGO:0097167 circadian regulation of translation ISS
 biological_processGO:2000678 negative regulation of transcription regulatory region DNA binding ISS
 cellular_componentGO:0005634 nucleus ISS
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding ISS
 molecular_functionGO:0000989 transcription factor activity, transcription factor binding IEA
 molecular_functionGO:0003713 transcription coactivator activity ISS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Circadian Clock


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0006979 Sleep-wake cycle disturbance 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000008405 CRY1 / Q16526 / cryptochrome circadian regulator 1  / complex
 ENSG00000132326 PER2 / O15055 / period circadian regulator 2  / complex
 ENSG00000134852 CLOCK / O15516 / clock circadian regulator  / complex / reaction
 ENSG00000179094 PER1 / O15534 / period circadian regulator 1  / complex
 ENSG00000170485 NPAS2 / Q99743 / neuronal PAS domain protein 2  / complex / reaction
 ENSG00000133794 ARNTL / O00327 / aryl hydrocarbon receptor nuclear translocator like  / complex / reaction
 ENSG00000121671 CRY2 / Q49AN0 / cryptochrome circadian regulator 2  / complex
 ENSG00000213923 CSNK1E / P49674 / casein kinase 1 epsilon  / complex
 ENSG00000166167 BTRC / Q9Y297 / beta-transducin repeat containing E3 ubiquitin protein ligase  / complex / reaction






 

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