GABRA6

Overview

GABRA6 encodes the alpha-6 subunit of the GABA type A receptor, a ligand-gated chloride ion channel primarily expressed in cerebellar granule cells. Its recurrent mutation in high-grade serous ovarian carcinoma (HGSOC) is unexpected given its tissue expression pattern, and its role in ovarian cancer biology is poorly understood.

Alterations observed in the corpus

  • GABRA6 was among the 9 genes significantly mutated above background in HGSOC (489 samples) by TCGA integrated genomic analysis, identified by whole-exome sequencing of 316 tumors PMID:21720365
  • Identified as an additional significantly mutated gene (SMG) in GBM by MutSig analysis (q<0.1) in the TCGA 2013 cohort of 291 whole-exome-sequenced primary GBM cases; mutation frequency ~4% PMID:24120142

Cancer types (linked)

  • HGSOC: GABRA6 somatic mutations identified as significantly recurrent above background mutation rate in a cohort of 489 stage II-IV tumors PMID:21720365

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct therapeutic relevance established; mechanistic role in ovarian cancer is uncharacterized.

Open questions

  • Whether GABRA6 mutations are driver events or passenger mutations in HGSOC remains unclear; the biological plausibility of an ion channel as a cancer driver in ovarian epithelium is uncertain.

Sources

  • PMID:21720365 — TCGA integrated genomic analysis of ovarian carcinoma (HGSOC)

This page was processed by crosslinker on 2026-05-09. - PMID:24120142

This page was processed by crosslinker on 2026-05-09.