PER2 Chromosome 2
Period circadian regulator 2
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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 may increase the risk of getting certain cancers and have been linked to sleep disorders. [provided by RefSeq, Jan 2014]
Gene Info
Gene Group
PAS domain containing
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000132326
Associated Conditions (1)
Advanced sleep phase syndrome 1
Key Variants
RS142033533
Conflicting classifications of pathogenicity
Health Risk
RS962808354
Conflicting classifications of pathogenicity
Advanced sleep phase syndrome 1, Advanced sleep phase syndrome 1
Health Risk
RS121908635
Pathogenic
Advanced sleep phase syndrome 1, Advanced sleep phase syndrome 1
Health Risk
RS1559332542
Pathogenic
Advanced sleep phase syndrome 1, Advanced sleep phase syndrome 1
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142033533 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS962808354 | Health Risk | Conflicting classifications of pathogenicity | Advanced sleep phase syndrome 1, Advanced sleep phase syndrome 1 |
| RS121908635 | Health Risk | Pathogenic | Advanced sleep phase syndrome 1, Advanced sleep phase syndrome 1 |
| RS1559332542 | Health Risk | Pathogenic | Advanced sleep phase syndrome 1, Advanced sleep phase syndrome 1 |