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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Advanced sleep phase syndrome 1 Pathogenic rs121908635, rs1559332542 RCV000006717
RCV000785624
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSION, POSTPARTUM Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
3-methylcrotonyl CoA carboxylase 1 deficiency 3-methylcrotonyl CoA carboxylase deficiency BEFREE 24103308
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 31205054
★☆☆☆☆
Found in Text Mining only
Advanced Sleep Phase Syndrome Advanced Sleep Phase Syndrome BEFREE 16120104, 16979429
★☆☆☆☆
Found in Text Mining only
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 Advanced sleep phase syndrome UNIPROT_DG 11232563
★☆☆☆☆
Found in Text Mining only
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 Advanced sleep phase syndrome GENOMICS_ENGLAND_DG 11232563
★☆☆☆☆
Found in Text Mining only
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 Advanced sleep phase syndrome CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Advanced Sleep-Phase Syndrome, Familial Advanced Sleep Phase Syndrome BEFREE 11232563, 12841366, 12849457, 15289749, 16983144, 17218251, 21324900, 21814225, 24857656
★☆☆☆☆
Found in Text Mining only
Advanced Sleep-Phase Syndrome, Familial Advanced Sleep Phase Syndrome ORPHANET_DG 11232563
★☆☆☆☆
Found in Text Mining only
Advanced Sleep-Phase Syndrome, Familial Advanced Sleep Phase Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
AL-RAQAD SYNDROME AL-Raqad Syndrome BEFREE 21789355
★☆☆☆☆
Found in Text Mining only