Gene Gene information from NCBI Gene database.
Entrez ID 8864
Gene name Period circadian regulator 2
Gene symbol PER2
Synonyms (NCBI Gene)
FASPSFASPS1
Chromosome 2
Chromosome location 2q37.3
Summary 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
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs121908635 T>C Pathogenic Coding sequence variant, missense variant
rs1559332542 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
740
miRTarBase ID miRNA Experiments Reference
MIRT030473 hsa-miR-24-3p qRT-PCR;Microarray 19748357
MIRT712329 hsa-miR-5688 HITS-CLIP 19536157
MIRT712328 hsa-miR-495-3p HITS-CLIP 19536157
MIRT712327 hsa-miR-367-3p HITS-CLIP 19536157
MIRT712326 hsa-miR-92b-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
ARNTL Activation 22750052
ARNTL Unknown 17660446
CLOCK Activation 22750052
CLOCK Unknown 17660446
NPAS2 Unknown 17660446
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0000976 Function Transcription cis-regulatory region binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603426 8846 ENSG00000132326
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15055
Protein name Period circadian protein homolog 2 (hPER2) (Circadian clock protein PERIOD 2)
Protein 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 g
PDB 6OF7 , 8D7M , 8D7N , 8D7O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08447 PAS_3 344 432 PAS fold Domain
PF12114 Period_C 1046 1232 Period protein 2/3C-terminal region Family
Tissue specificity 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:00
Sequence
MNGYAEFPPSPSNPTKEPVEPQPSQVPLQEDVDMSSGSSGHETNENCSTGRDSQGSDCDD
SGKELGMLVEPPDARQSPDTFSLMMAKSEHNPSTSGCSSDQSSKVDTHKELIKTLKELKV
HLPADKKAKGKASTLATLKYALRSVKQVKANEEYYQLLMSSEGHPCGADVPSYTVEEMES
VTSEHIVKNADMFAVAVSLVSGKILYISDQVASIFHCKRDAFSDAKFVEFLAPHDVGVFH
SFTSPYKLPLWSMCSGADSFTQECMEEKSFFCRVSVRKSHENEIRYHPFRMTPYLVKVRD
QQGAESQLCCLLLAERVHSGYEAPRIPPEKRIFTTTHTPNCLFQDVDERAVPLLGYLPQD
LIETPVLVQLHPSDRPLMLAIHKKILQSGGQPFDYSPIRFRARNGEYITLDTSWSSFINP
WSRKISFIIGRH
KVRVGPLNEDVFAAHPCTEEKALHPSIQELTEQIHRLLLQPVPHSGSS
GYGSLGSNGSHEHLMSQTSSSDSNGHEDSRRRRAEICKNGNKTKNRSHYSHESGEQKKKS
VTEMQTNPPAEKKAVPAMEKDSLGVSFPEELACKNQPTCSYQQISCLDSVIRYLESCNEA
ATLKRKCEFPANVPALRSSDKRKATVSPGPHAGEAEPPSRVNSRTGVGTHLTSLALPGKA
ESVASLTSQCSYSSTIVHVGDKKPQPELEMVEDAASGPESLDCLAGPALACGLSQEKEPF
KKLGLTKEVLAAHTQKEEQSFLQKFKEIRKLSIFQSHCHYYLQERSKGQPSERTAPGLRN
TSGIDSPWKKTGKNRKLKSKRVKPRDSSESTGSGGPVSARPPLVGLNATAWSPSDTSQSS
CPAVPFPAPVPAAYSLPVFPAPGTVAAPPAPPHASFTVPAVPVDLQHQFAVQPPPFPAPL
APVMAFMLPSYSFPSGTPNLPQAFFPSQPQFPSHPTLTSEMASASQPEFPSRTSIPRQPC
ACPATRATPPSAMGRASPPLFQSRSSSPLQLNLLQLEEAPEGGTGAMGTTGATETAAVGA
DCKPGTSRDQQPKAPLTRDEPSDTQNSDALSTSSGLLNLLLNEDLCSASGSAASESLGSG
SLGCDASPSGAGSSDTSHTSKYFGSIDSSENNHKAKMNTGMEESEHFIKCVLQDPIWLLM
ADADSSVMMTYQLPSRNLEAVLKEDREKLKLLQKLQPRFTESQKQELREVHQWMQTGGLP
AAIDVAECVYCENKEKGNICIPYEEDIPSLGL
SEVSDTKEDENGSPLNHRIEEQT
Sequence length 1255
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
38
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Advanced sleep phase syndrome 1 Pathogenic rs121908635, rs1559332542 RCV000006717
RCV000785624
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs2469803947, rs2469843509 RCV003127445
RCV003127446
Familial cancer of breast - rs142278108 RCV006226949
PER2-related disorder Benign; Uncertain significance; Likely benign rs2304669, rs1232950702, rs79066297, rs375455180, rs772375894, rs781757018, rs371393597, rs74441481, rs73088906, rs113438735, rs555709631, rs2304670, rs7603349, rs142267174, rs2469820819
View all (11 more)
RCV003975781
RCV003414418
RCV003919166
RCV003894771
RCV003921534
RCV003904292
RCV003911801
RCV003912158
RCV003916848
RCV003964209
RCV003972003
RCV003981233
RCV003934477
RCV003959336
RCV003959382
RCV003944505
RCV003937030
RCV003922160
RCV003949219
RCV003952239
RCV003954411
RCV003981798
RCV003968938
RCV003913211
RCV003918579
RCV003903006
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 25573754
Adenocarcinoma of Lung Associate 36385012
Alcoholism Associate 20187847
Asthenozoospermia Associate 35000095
Attention Deficit and Disruptive Behavior Disorders Associate 26512752, 34321570
Attention Deficit and Disruptive Behavior Disorders Inhibit 31708917
Attention Deficit Disorder with Hyperactivity Associate 30758328, 34275001
Bipolar Disorder Stimulate 33674753
Brain Injuries Associate 34321570
Brain Injuries Traumatic Stimulate 34321570