AKAP6

Overview

AKAP6 (A-kinase anchoring protein 6) is a scaffolding protein that anchors protein kinase A (PKA) to specific subcellular compartments. It was identified as a significantly mutated gene in esophageal adenocarcinoma (EAC) by combined exome and whole-genome sequencing. Its role as a cancer driver in EAC has not been functionally validated.

Alterations observed in the corpus

  • Significantly mutated in 8% of EAC tumors (145-sample exome/WGS cohort, esca_broad); among the additional significant candidates alongside AJAP1, HECW1, and NUAK1; no functional validation in this study. PMID:23525077

Cancer types (linked)

  • ESCA (esophageal adenocarcinoma): recurrently mutated at 8% frequency in the esca_broad discovery cohort. PMID:23525077

Co-occurrence and mutual exclusivity

  • Co-listed with AJAP1 (6%), HECW1 (8%), and NUAK1 (3%) as additional EAC-significant candidates in the same discovery cohort. PMID:23525077

Therapeutic relevance

  • No targeted agents approved for AKAP6; functional role in EAC pathogenesis requires validation. PMID:23525077

Open questions

  • Statistical nomination only; no invasion or proliferation assays performed for AKAP6 in this study. PMID:23525077

Sources

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