HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PER2
period circadian regulator 2
Chromosome 2 · 2q37.3
NCBI Gene: 8864Ensembl: ENSG00000132326.13HGNC: HGNC:8846UniProt: O15055
205PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleusprotein bindingnucleoplasmnegative regulation of transcription by RNA polymerase IIFamilial advanced sleep-phase syndromeseptic shockliver diseaseoral squamous cell carcinoma
✦AI Summary

PER2 (period circadian regulator 2) is a transcriptional repressor and core component of the molecular circadian clock that generates approximately 24-hour rhythms in gene expression. As a negative limb of the transcription/translation feedback loop, PER2 interacts with the CLOCK-BMAL1 heterodimer to inhibit its activity and regulate circadian-controlled genes through multiple mechanisms, including chr2 remodeling via SIN3-HDAC complexes and H3K9 methyltransferase recruitment [UniProt annotation]. PER2 regulates diverse physiological processes including metabolism, sleep, cardiovascular function, and immune responses 1. Beyond canonical clock function, PER2 has emerged as a critical regulator of cellular pathways relevant to human disease. In oral squamous cell carcinoma, PER2 suppresses PD-L1 expression through IKK/NF-κB pathway inhibition via HSP90 binding, enhancing anti-tumor immune responses 2. PER2 also promotes cuproptosis in OSCC cells through HSP70 interaction-mediated AKT degradation 3. In pituitary tumorigenesis, PER2 upregulation accelerates adenoma growth by enhancing HIF-1α-dependent transcription of cell cycle genes 4. Conversely, NAD+ supplementation via nicotinamide riboside restores PER2 function in aging through K680 deacetylation, enhancing circadian oscillations and metabolic rhythms 5. Urolithin A similarly amplifies circadian amplitude by destabilizing PER2 while stabilizing SIRT1 6. A heterozygous BMAL1 variant study revealed that disrupted PER2 mRNA cycling associates with developmental delay and autism spectrum disorder, highlighting neurodevelopmental roles beyond canonical circadian function 7.

Sources cited
1
PER2 suppresses PD-L1 expression in oral squamous cell carcinoma through HSP90-mediated inhibition of IKK/NF-κB pathway
PMID: 37914384
2
NAD+ supplementation restores circadian rhythms in aging through PER2 K680 deacetylation and enhanced BMAL1 chromatin binding
PMID: 32369735
3
PER2 expression is regulated by KMT2D and controls glycolytic gene expression in lung cancer
PMID: 32243837
4
PER2 gene mutations are linked to sleep disorders and regulate multiple physiological systems including metabolism, sleep, and cardiovascular function
PMID: 37981094
5
PER2 upregulation promotes pituitary tumorigenesis by enhancing HIF-1α-dependent transcription of cell cycle genes
PMID: 37215573
6
PER2 promotes cuproptosis in oral squamous carcinoma by HSP70 interaction-mediated AKT degradation
PMID: 40113747
7
Urolithin A enhances circadian amplitude in senescent cells by destabilizing PER2 protein while stabilizing SIRT1
PMID: 39796454
8
BMAL1 variants that disrupt PER2 mRNA cycling associate with developmental delay and autism spectrum disorder
PMID: 40720646
Disease Associationsⓘ21
Familial advanced sleep-phase syndromeOpen Targets
0.62Moderate
septic shockOpen Targets
0.27Weak
liver diseaseOpen Targets
0.25Weak
oral squamous cell carcinomaOpen Targets
0.11Weak
gliomaOpen Targets
0.10Weak
neoplasmOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.10Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
head and neck squamous cell carcinomaOpen Targets
0.09Suggestive
esophageal cancerOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
subarachnoid hemorrhageOpen Targets
0.08Suggestive
non-alcoholic steatohepatitisOpen Targets
0.08Suggestive
Myocardial IschemiaOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
liver cancerOpen Targets
0.06Suggestive
depressive disorderOpen Targets
0.05Suggestive
deliriumOpen Targets
0.05Suggestive
glioblastoma multiformeOpen Targets
0.05Suggestive
ovarian cancerOpen Targets
0.05Suggestive
Advanced sleep phase syndrome, familial, 1UniProt
Pathogenic Variants2
NM_022817.3(PER2):c.595del (p.Leu199fs)Pathogenic
Advanced sleep phase syndrome 1
★☆☆☆→ Residue 199
NM_022817.3(PER2):c.1984A>G (p.Ser662Gly)Pathogenic
Advanced sleep phase syndrome 1
☆☆☆☆2001→ Residue 662
View on ClinVar ↗
Related Genes
CSNK1DProtein interaction100%CSNK1EProtein interaction100%NR3C1Protein interaction100%NFIL3Protein interaction100%NPAS2Protein interaction100%RORAProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
50%
Ovary
48%
Liver
41%
Brain
38%
Lung
30%
Gene Interaction Network
Click a node to explore
PER2CSNK1DCSNK1ENR3C1NFIL3NPAS2RORA
PROTEIN STRUCTURE
Preparing viewer…
PDB8D7O · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.67LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.53 [0.43–0.67]
RankingsWhere PER2 stands among ~20K protein-coding genes
  • #2,046of 20,598
    Most Researched205 · top 10%
  • #4,243of 5,498
    Most Pathogenic Variants2
  • #4,929of 17,882
    Most Constrained (LOEUF)0.67
Genes detectedPER2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
PER2 binding to HSP90 enhances immune response against oral squamous cell carcinoma by inhibiting IKK/NF-κB pathway and PD-L1 expression.
PMID: 37914384
J Immunother Cancer · 2023
1.00
2
NAD
PMID: 32369735
Mol Cell · 2020
0.90
3
KMT2D Deficiency Impairs Super-Enhancers to Confer a Glycolytic Vulnerability in Lung Cancer.
PMID: 32243837
Cancer Cell · 2020
0.80
4
Clock genes alterations and endocrine disorders.
PMID: 29577261
Eur J Clin Invest · 2018
0.76
5
PER2 gene and its association with sleep-related disorders: A review.
PMID: 37981094
Physiol Behav · 2024
0.70