KCNJ3
Overview
KCNJ3 encodes the G-protein-activated inwardly rectifying potassium channel 1 (GIRK1), a member of the inward-rectifier potassium channel family involved in cell excitability and signaling. In extra-cranial malignant rhabdoid tumor (MRT), KCNJ3 harbors recurrent intronic mutations associated with increased gene expression, though the functional mechanism has not been resolved.
Alterations observed in the corpus
- Intronic mutations in KCNJ3 detected in 8/40 extra-cranial MRT cases; mutations are associated with increased KCNJ3 expression, though whether the mechanism is direct regulatory disruption or a sequencing artifact in a frequently rearranged region is unresolved. PMID:26977886
Cancer types (linked)
- MRT (Malignant Rhabdoid Tumor): Recurrent intronic KCNJ3 mutations in 20% (8/40) of extra-cranial MRT with associated increased expression. PMID:26977886
Co-occurrence and mutual exclusivity
- Mutations occur in the background of SMARCB1 biallelic inactivation, which is the dominant driver in 39/40 cases in this cohort. PMID:26977886
Therapeutic relevance
- No therapeutic implications described in the corpus.
Open questions
- The mechanism by which intronic KCNJ3 mutations increase expression is unresolved; regulatory disruption vs. sequencing artifact in rearranged regions cannot be distinguished from the current data. PMID:26977886
Sources
This page was processed by crosslinker on 2026-05-14.