TPTEP2-CSNK1E

Chr 22

TPTEP2-CSNK1E readthrough

Also known as: LOC400927-CSNK1E

The readthrough transcript encodes casein kinase I epsilon, a serine/threonine kinase that regulates circadian rhythms, Wnt signaling, and cell cycle progression. Mutations cause autosomal dominant familial advanced sleep phase syndrome, characterized by very early sleep onset and wake times. This circadian rhythm disorder typically manifests in adulthood with extreme morning preference and difficulty staying awake in the evening.

ResearchSummary from RefSeq

This locus represents naturally occurring readthrough transcription between the neighboring LOC400927 (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene) and CSNK1E (casein kinase I isoform epsilon) genes on chromosome 22. The readthrough transcript encodes the same protein as the downstream gene product (casein kinase I isoform epsilon). [provided by RefSeq, Feb 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)