PER3 Chromosome 1
Period circadian regulator 3
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What This Gene Does
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 locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
PAS domain containing
Locus Type
gene with protein product
Location
1p36.23
Ensembl
ENSG00000049246
Associated Conditions (3)
Advanced sleep phase syndrome 3
PER3-related disorder
See cases
Key Variants
RS139315125
Conflicting classifications of pathogenicity
Advanced sleep phase syndrome 3, Advanced sleep phase syndrome 3
Health Risk
RS144178755
Conflicting classifications of pathogenicity
PER3-related disorder, PER3-related disorder
Health Risk
RS150812083
Conflicting classifications of pathogenicity
Advanced sleep phase syndrome 3, Advanced sleep phase syndrome 3
Health Risk
RS556093537
Conflicting classifications of pathogenicity
Advanced sleep phase syndrome 3, PER3-related disorder, Advanced sleep phase syndrome 3
Health Risk
RS1558401132
Likely pathogenic
Health Risk
RS2151127625
Likely pathogenic
See cases, See cases
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139315125 | Health Risk | Conflicting classifications of pathogenicity | Advanced sleep phase syndrome 3, Advanced sleep phase syndrome 3 |
| RS144178755 | Health Risk | Conflicting classifications of pathogenicity | PER3-related disorder, PER3-related disorder |
| RS150812083 | Health Risk | Conflicting classifications of pathogenicity | Advanced sleep phase syndrome 3, Advanced sleep phase syndrome 3 |
| RS556093537 | Health Risk | Conflicting classifications of pathogenicity | Advanced sleep phase syndrome 3, PER3-related disorder, Advanced sleep phase syndrome 3 |
| RS1558401132 | Health Risk | Likely pathogenic | — |
| RS2151127625 | Health Risk | Likely pathogenic | See cases, See cases |