GCC2
Overview
GCC2 (GRIP and coiled-coil domain containing 2) encodes a Golgi-associated protein involved in vesicle trafficking. In cancer genomics, GCC2 has been identified as one of the top alternatively spliced transcripts produced by SF3B1 hotspot mutations in breast cancer, linking Golgi trafficking dysregulation to splicing factor mutations.
Alterations observed in the corpus
- GCC2 is among the top alternatively spliced transcripts shared across all SF3B1 hotspot mutations (K700E, R625C, R625H) in HR+ HER2- breast cancer; aberrant splicing is dose-dependent with mutant SF3B1 VAF PMID:22158541
Cancer types (linked)
- BRCA (HR+ HER2-): Aberrant GCC2 splicing is a convergent downstream consequence of SF3B1 driver mutations in breast cancer, detected by RNA-seq across isogenic knock-in models PMID:22158541
Co-occurrence and mutual exclusivity
- GCC2 splicing dysregulation co-occurs as part of a convergent alternatively spliced transcript signature with DLST, TMEM14C, and ENOSF1 across SF3B1 hotspot mutations PMID:22158541
Therapeutic relevance
- No direct therapeutic targeting reported in the corpus. Aberrant GCC2 splicing may contribute to downstream cellular effects of SF3B1 mutation in breast cancer.
Open questions
- Whether aberrant GCC2 splicing disrupts vesicle trafficking in SF3B1-mutant breast cancer cells, and whether this contributes to tumor biology, remains unexplored PMID:22158541
Sources
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