CACNG6
Overview
CACNG6 (Calcium Channel, Voltage-Dependent, Gamma Subunit 6) encodes a regulatory subunit of voltage-gated calcium channels. In the context of cancer genomics, CACNG6 was identified as a gene with recurrent somatic promoter mutations in adult diffuse glioma — a rare category of alterations identified in the pan-glioma TCGA analysis. Its promoter mutations correlate with transcriptional downregulation, though the functional significance in gliomagenesis remains uncharacterized.
Alterations observed in the corpus
- Somatic promoter mutations (n=7) detected in adult diffuse glioma (WHO grades II–IV) across the TCGA pan-glioma cohort (n=1,122); promoter mutation correlated with CACNG6 mRNA downregulation. Functional consequence in glioma has not been established. PMID:26824661
Cancer types (linked)
- DIFG / GBM: Recurrent somatic promoter mutations (n=7/1,122 cases, ~0.6%) identified in the TCGA pan-glioma cohort; promoter mutation associated with reduced CACNG6 expression. PMID:26824661
Co-occurrence and mutual exclusivity
- Co-mutation context not specifically reported. Identified alongside other novel promoter-region events (e.g., TRIM28 n=8) in the same pan-glioma analysis. PMID:26824661
Therapeutic relevance
- No direct therapeutic implication established. The gene was nominated as a novel, low-frequency promoter-mutated gene in glioma; functional follow-up is needed to assess therapeutic relevance. PMID:26824661
Open questions
- The mechanism by which CACNG6 promoter mutation contributes to downregulation (e.g., disruption of transcription-factor binding sites) is not characterized. Whether CACNG6 loss plays a functional role in glioma biology — or is a passenger event — remains unresolved. PMID:26824661
Sources
- PMID:26824661 — Ceccarelli et al. (2016), TCGA pan-glioma molecular characterization, n=1,122 diffuse gliomas (DIFG/GBM/ASTR/ODG).
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