RYR3
Overview
RYR3 encodes Ryanodine Receptor 3, an intracellular calcium release channel. In adenoid cystic carcinoma (ACC), RYR3 is among the more frequently mutated genes (7%), suggesting a role for intracellular calcium and PKA pathway dysregulation in this tumor type.
Alterations observed in the corpus
- Recurrent somatic mutation; frequency 7%; intracellular calcium channel linked to PKA pathway in adenoid cystic carcinoma. PMID:23685749
Cancer types (linked)
- ACYC (Adenoid Cystic Carcinoma): Recurrently mutated in ACC alongside RYR2; one of the more frequent non-MYB alterations in ACC (7%). PMID:23685749
Co-occurrence and mutual exclusivity
- Co-mutated with RYR2 in ACC, both encoding ryanodine receptor family members; pattern suggests calcium channel dysregulation as a recurrent theme in ACC. PMID:23685749
Therapeutic relevance
- No direct therapeutic implication reported in this study. PMID:23685749
Open questions
- Functional consequences of RYR3 mutations in ACC and mechanism of PKA pathway involvement have not been characterized. PMID:23685749
Sources
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