RYR2
Overview
RYR2 encodes Ryanodine Receptor 2, a major intracellular calcium release channel expressed predominantly in cardiac muscle and brain. In adenoid cystic carcinoma (ACC), RYR2 harbors recurrent somatic mutations (2% frequency) implicating intracellular calcium signaling and the PKA pathway in ACC oncogenesis.
Alterations observed in the corpus
- Recurrent somatic mutation; frequency 2%; intracellular calcium channel linked to PKA pathway in adenoid cystic carcinoma. PMID:23685749
- Sub-clonal mutation in the WCM117 urothelial carcinoma primary that became enriched in chemotherapy-treated metastatic lesions, representing an early founder signal that survived platinum-based chemotherapy selection PMID:27749842
Cancer types (linked)
- ACYC (Adenoid Cystic Carcinoma): Recurrently mutated in ACC alongside RYR3, implicating intracellular calcium signaling in ACC pathogenesis. PMID:23685749
Co-occurrence and mutual exclusivity
- Co-mutated with RYR3 in ACC, both encoding ryanodine receptor family members; pattern suggests calcium channel dysregulation as a recurrent theme. PMID:23685749
Therapeutic relevance
- No direct therapeutic implication reported in this study; PKA pathway link may be of mechanistic interest. PMID:23685749
Open questions
- Functional consequences of RYR2 mutations in ACC cells and their relationship to PKA signaling have not been experimentally characterized. PMID:23685749
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:27749842
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