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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
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)
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
ADVANCED SLEEP PHASE SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Advanced sleep phase syndrome 3 Uncertain significance; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC 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
Acute leukemia Leukemia BEFREE 26637877
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 26637877
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 25501848, 27771773
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 25501848
★☆☆☆☆
Found in Text Mining only
Adrenal cortical hypofunction Adrenal Cortical Hypofunction BEFREE 29846607
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 26406960
★☆☆☆☆
Found in Text Mining only
Advanced Sleep Phase Syndrome Advanced Sleep Phase Syndrome BEFREE 16979429
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 Sleep Phase Syndrome CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Advanced Sleep-Phase Syndrome, Familial Advanced Sleep Phase Syndrome ORPHANET_DG 26903630
★☆☆☆☆
Found in Text Mining only
Advanced Sleep-Phase Syndrome, Familial Advanced Sleep Phase Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only