• Gene id: 8864

Gene Summary

• Gene Symbol: PER2   Gene   UCSC   Ensembl
• Aliases: FASPS, FASPS1
• Gene name: period circadian regulator 2
• Alternate names: period circadian protein homolog 2, circadian clock protein PERIOD 2, hPER2, period 2, period circadian clock 2, period circadian protein 2, period homolog 2,
• Gene location: 2q37.3 (238290101: 238244037)     Exons: 25     NC_000002.12
• Gene summary(Entrez): 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 locomoto
• OMIM: 603426

Protein Summary

• Protein general information: O15055  
  • Name: Period circadian protein homolog 2 (hPER2) (Circadian clock protein PERIOD 2)
  • Length: 1255  
  • Mass: 136579
  • 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). {ECO
• Sequence:

  MNGYAEFPPSPSNPTKEPVEPQPSQVPLQEDVDMSSGSSGHETNENCSTGRDSQGSDCDDSGKELGMLVEPPDAR
  QSPDTFSLMMAKSEHNPSTSGCSSDQSSKVDTHKELIKTLKELKVHLPADKKAKGKASTLATLKYALRSVKQVKA
  NEEYYQLLMSSEGHPCGADVPSYTVEEMESVTSEHIVKNADMFAVAVSLVSGKILYISDQVASIFHCKRDAFSDA
  KFVEFLAPHDVGVFHSFTSPYKLPLWSMCSGADSFTQECMEEKSFFCRVSVRKSHENEIRYHPFRMTPYLVKVRD
  QQGAESQLCCLLLAERVHSGYEAPRIPPEKRIFTTTHTPNCLFQDVDERAVPLLGYLPQDLIETPVLVQLHPSDR
  PLMLAIHKKILQSGGQPFDYSPIRFRARNGEYITLDTSWSSFINPWSRKISFIIGRHKVRVGPLNEDVFAAHPCT
  EEKALHPSIQELTEQIHRLLLQPVPHSGSSGYGSLGSNGSHEHLMSQTSSSDSNGHEDSRRRRAEICKNGNKTKN
  RSHYSHESGEQKKKSVTEMQTNPPAEKKAVPAMEKDSLGVSFPEELACKNQPTCSYQQISCLDSVIRYLESCNEA
  ATLKRKCEFPANVPALRSSDKRKATVSPGPHAGEAEPPSRVNSRTGVGTHLTSLALPGKAESVASLTSQCSYSST
  IVHVGDKKPQPELEMVEDAASGPESLDCLAGPALACGLSQEKEPFKKLGLTKEVLAAHTQKEEQSFLQKFKEIRK
  LSIFQSHCHYYLQERSKGQPSERTAPGLRNTSGIDSPWKKTGKNRKLKSKRVKPRDSSESTGSGGPVSARPPLVG
  LNATAWSPSDTSQSSCPAVPFPAPVPAAYSLPVFPAPGTVAAPPAPPHASFTVPAVPVDLQHQFAVQPPPFPAPL
  APVMAFMLPSYSFPSGTPNLPQAFFPSQPQFPSHPTLTSEMASASQPEFPSRTSIPRQPCACPATRATPPSAMGR
  ASPPLFQSRSSSPLQLNLLQLEEAPEGGTGAMGTTGATETAAVGADCKPGTSRDQQPKAPLTRDEPSDTQNSDAL
  STSSGLLNLLLNEDLCSASGSAASESLGSGSLGCDASPSGAGSSDTSHTSKYFGSIDSSENNHKAKMNTGMEESE
  HFIKCVLQDPIWLLMADADSSVMMTYQLPSRNLEAVLKEDREKLKLLQKLQPRFTESQKQELREVHQWMQTGGLP
  AAIDVAECVYCENKEKGNICIPYEEDIPSLGLSEVSDTKEDENGSPLNHRIEEQT

• Structural information:
  • Protein Domains: (181..24-)
    (/note="PAS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (321..38-)
    (/note="PAS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00140-)
    (395..43-)
    (/note="PAC"-)
  • Interpro: IPR000014  IPR035965  IPR013655  IPR022728  
  • Prosite: PS50112
  • CDD: cd00130
  • DIP: 38051
  • STRING: ENSP00000254657
• Other Databases: GeneCards:  PER2  Malacards:  PER2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0001222	transcription corepressor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0008134	transcription factor binding	IBA	molecular function
GO:0009416	response to light stimulus	IBA	biological process
GO:0032922	circadian regulation of gene expression	IBA	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0043153	entrainment of circadian clock by photoperiod	IBA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:2000678	negative regulation of transcription regulatory region DNA binding	ISS	biological process
GO:0097167	circadian regulation of translation	ISS	biological process
GO:0070345	negative regulation of fat cell proliferation	ISS	biological process
GO:0051946	regulation of glutamate uptake involved in transmission of nerve impulse	ISS	biological process
GO:0051726	regulation of cell cycle	ISS	biological process
GO:0050872	white fat cell differentiation	ISS	biological process
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0031397	negative regulation of protein ubiquitination	ISS	biological process
GO:0019249	lactate biosynthetic process	ISS	biological process
GO:0006094	gluconeogenesis	ISS	biological process
GO:0005978	glycogen biosynthetic process	ISS	biological process
GO:0002931	response to ischemia	ISS	biological process
GO:0000976	transcription regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0070932	histone H3 deacetylation	ISS	biological process
GO:0050796	regulation of insulin secretion	ISS	biological process
GO:0050767	regulation of neurogenesis	ISS	biological process
GO:0042754	negative regulation of circadian rhythm	ISS	biological process
GO:0042752	regulation of circadian rhythm	ISS	biological process
GO:0032922	circadian regulation of gene expression	ISS	biological process
GO:0019229	regulation of vasoconstriction	ISS	biological process
GO:0006631	fatty acid metabolic process	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003713	transcription coactivator activity	ISS	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0048511	rhythmic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007623	circadian rhythm	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0007623	circadian rhythm	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:1903508	positive regulation of nucleic acid-templated transcription	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa04713	Circadian entrainment
hsa05221	Acute myeloid leukemia
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Familial advanced sleep phase syndrome	KEGG:H00688
Familial advanced sleep phase syndrome	KEGG:H00688
Advanced sleep phase syndrome	PMID:11232563
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq