Gene Gene information from NCBI Gene database.
Entrez ID 8863
Gene name Period circadian regulator 3
Gene symbol PER3
Synonyms (NCBI Gene)
FASPS3GIG13
Chromosome 1
Chromosome location 1p36.23
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.
3
SNP ID Visualize variation Clinical significance Consequence
rs139315125 A>G Pathogenic 5 prime UTR variant, missense variant, coding sequence variant
rs150812083 C>G Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs1558401132 CTTGC>- Likely-pathogenic Frameshift variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
390
miRTarBase ID miRNA Experiments Reference
MIRT029909 hsa-miR-26b-5p Microarray 19088304
MIRT030960 hsa-miR-21-5p Microarray 18591254
MIRT487823 hsa-miR-320e PAR-CLIP 23592263
MIRT487822 hsa-miR-3943 PAR-CLIP 23592263
MIRT487821 hsa-miR-6795-3p PAR-CLIP 23592263
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ARNTL Activation 22750052
CLOCK Activation 22750052
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
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 IDA 26903630
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0001222 Function Transcription corepressor binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603427 8847 ENSG00000049246
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56645
Protein name Period circadian protein homolog 3 (hPER3) (Cell growth-inhibiting gene 13 protein) (Circadian clock protein PERIOD 3)
Protein function Originally described as 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 gene expression
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08447 PAS_3 284 374 PAS fold Domain
PF12114 Period_C 1029 1195 Period protein 2/3C-terminal region Family
Sequence
MPRGEAPGPGRRGAKDEALGEESGERWSPEFHLQRKLADSSHSEQQDRNRVSEELIMVVQ
EMKKYFPSERRNKPSTLDALNYALRCVHSVQANSEFFQILSQNGAPQADVSMYSLEELAT
IASEHTSKNTDTFVAVFSFLSGRLVHISEQAALILNRKKDVLASSHFVDLLAPQDMRVFY
AHTARAQLPFWNNWTQRAARYECAPVKPFFCRIRGGEDRKQEKCHSPFRIIPYLIHVHHP
AQPELESEPCCLTVVEKIHSGYEAPRIPVNKRIFTTTHTPGCVFLEVDEKAVPLLGYLPQ
DLIGTSILSYLHPEDRSLMVAIHQKVLKYAGHPPFEHSPIRFCTQNGDYIILDSSWSSFV
NPWSRKISFIIGRH
KVRTSPLNEDVFATKIKKMNDNDKDITELQEQIYKLLLQPVHVSVS
SGYGSLGSSGSQEQLVSIASSSEASGHRVEETKAEQMTLQQVYASVNKIKNLGQQLYIES
MTKSSFKPVTGTRTEPNGGGECKTFTSFHQTLKNNSVYTEPCEDLRNDEHSPSYQQINCI
DSVIRYLKSYNIPALKRKCISCTNTTSSSSEEDKQNHKADDVQALQAGLQIPAIPKSEMP
TNGRSIDTGGGAPQILSTAMLSLGSGISQCGYSSTIVHVPPPETARDATLFCEPWTLNMQ
PAPLTSEEFKHVGLTAAVLSAHTQKEEQNYVDKFREKILSSPYSSYLQQESRSKAKYSYF
QGDSTSKQTRSAGCRKGKHKRKKLPEPPDSSSSNTGSGPRRGAHQNAQPCCPSAASSPHT
SSPTFPPAAMVPSQAPYLVPAFPLPAATSPGREYAAPGTAPEGLHGLPLSEGLQPYPAFP
FPYLDTFMTVFLPDPPVCPLLSPSFLPCPFLGATASSAISPSMSSAMSPTLDPPPSVTSQ
RREEEKWEAQSEGHPFITSRSSSPLQLNLLQEEMPRPSESPDQMRRNTCPQTEYCVTGNN
GSESSPATTGALSTGSPPRENPSHPTASALSTGSPPMKNPSHPTASALSTGSPPMKNPSH
PTASTLSMGLPPSRTPSHPTATVLSTGSPPSESPSRTGSAASGSSDSSIYLTSSVYSSKI
SQNGQQSQDVQKKETFPNVAEEPIWRMIRQTPERILMTYQVPERVKEVVLKEDLEKLESM
RQQQPQFSHGQKEELAKVYNWIQSQTVTQEIDIQACVTCENEDSADGAATSCGQV
LVEDS
C
Sequence length 1201
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Circadian rhythm
Circadian entrainment
 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
52
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Likely pathogenic rs2151127625 RCV001420256
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Advanced sleep phase syndrome 3 Uncertain significance; Conflicting classifications of pathogenicity rs772840416, rs139315125, rs150812083, rs200862765, rs2524417481, rs556093537 RCV001839395
RCV000494693
RCV000495971
RCV005399205
RCV003990337
RCV005392557
Cervical cancer Benign rs116369722 RCV005908616
Clear cell carcinoma of kidney Benign; Likely benign rs12121492, rs116369722 RCV005906781
RCV005908617
Colorectal cancer Benign; Likely benign rs12121492 RCV005906782
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36385012
Adenoma Associate 25501848, 27771773
Alcoholism Associate 22467995
Alzheimer Disease Associate 36901420
Anxiety Associate 28860482, 35365695, 38102312
Atrophy Associate 36130474
Attention Deficit and Disruptive Behavior Disorders Associate 19926609
Attention Deficit and Disruptive Behavior Disorders Inhibit 31708917
Attention Deficit Disorder with Hyperactivity Associate 34273025, 34275001, 34275002
Bipolar Disorder Associate 16528748, 36548883