PER3 Gene (Period Circadian Regulator 3)
Genetic insights into circadian rhythm regulation and sleep disorders
Gene Information Card
| Symbol | PER3 |
|---|---|
| Full Name | Period Circadian Regulator 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.23 |
| NCBI Gene ID | 8863 ncbi.nlm.nih.gov/gene/8863 |
| Ensembl ID | ENSG00000049246 |
| UniProt ID | P56645 |
| OMIM ID | 603427 |
| HGNC ID | 8847 |
| Aliases | GIG13, Period homolog 3 (Drosophila) |
Description
The PER3 gene encodes a member of the Period family of proteins, which are essential components of the circadian clock. PER3 regulates the timing of biological rhythms, including sleep-wake cycles, body temperature, and hormone secretion. It interacts with other clock proteins to form a negative feedback loop that drives circadian oscillations. Variations in PER3 have been associated with circadian rhythm sleep disorders, mood disorders, and differential responses to sleep deprivation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Delayed Sleep Phase Disorder (DSPD) | PER3 length polymorphism (4/5 repeats) influences circadian period and sleep timing; 5-repeat allele associated with morning preference and increased risk of DSPD. | ClinVar, OMIM |
| Advanced Sleep Phase Disorder (ASPD) | Rare variants in PER3 may alter phosphorylation sites, affecting protein stability and circadian period, leading to early sleep onset. | OMIM, ClinVar |
| Bipolar Disorder | PER3 variants may disrupt circadian rhythm, contributing to mood episode susceptibility and sleep disturbances. | ClinVar, OMIM |
| Seasonal Affective Disorder (SAD) | PER3 polymorphism affects light sensitivity and seasonal mood changes, with 5-repeat allele linked to higher risk. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 20.1 | High |
| Adrenal Gland | 12.3 | Medium |
| Liver | 8.5 | Medium |
| Heart | 5.2 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | High expression in cervical cancer cell line |
| A549 | 8.2 | Moderate expression in lung carcinoma |
| MCF7 | 6.7 | Moderate expression in breast cancer |
| HepG2 | 4.5 | Low expression in liver cancer |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs57875989 (4/5 repeat) | Variable number tandem repeat (VNTR) | ~10% in European populations | Alters circadian period and sleep homeostasis; 5-repeat associated with morning preference. |
| rs10462020 (G647V) | Missense | ~5% in East Asian populations | May affect protein stability and circadian rhythm regulation. |
| rs228697 (P415A) | Missense | ~2% in global populations | Potential impact on PER3 phosphorylation and clock function. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in PER3 are rare and may lead to disrupted circadian rhythms, but complete loss is not well-documented in humans; animal models show altered sleep patterns.
Gain of Function (GOF)
Gain-of-function variants, such as the 5-repeat allele, may enhance circadian stability but increase susceptibility to sleep phase disorders.
Dominant Negative (DN)
Dominant-negative effects have been proposed for certain missense mutations that disrupt PER3 interactions with other clock proteins, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
| • circadian rhythm | • negative regulation of transcription |
| • protein binding | • transcription factor binding |
| • nucleus | • cytoplasm |
Pathways
• Circadian Clock
• Regulation of gene expression by PER3
Protein Summary
PER3 is a 1,213-amino acid protein with a PAS domain and a nuclear localization signal. It forms heterodimers with PER1/PER2 and CRY proteins, translocating to the nucleus to repress CLOCK/BMAL1-mediated transcription. PER3 is post-translationally modified by phosphorylation, affecting its stability and subcellular localization. It is widely expressed, with highest levels in the brain, and plays a role in sleep homeostasis and circadian behavior.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PER3 Knockout HEK293 Cell Line | EDJ-KQ6386 | Human | 8863 | Details Get a Quote |
| PER3 Knockout HCT 116 Cell Line | EDJ-KQ29075 | Human | 8863 | Details Get a Quote |
| PER3 Knockout A-549 Cell Line | EDJ-KQ30401 | Human | 8863 | Details Get a Quote |
| PER3 Knockout HeLa Cell Line | EDJ-KQ30403 | Human | 8863 | Details Get a Quote |
