TMEM71
Overview
TMEM71 encodes a transmembrane protein of largely unknown function. It has been identified as a fusion partner with TSC1 in a pancreatic neuroendocrine neoplasm, resulting in a TSC1–TMEM71 fusion that is predicted to disrupt TSC1 tumor suppressor function and activate mTOR signaling. This fusion represents a rare but actionable structural variant in NENs.
Alterations observed in the corpus
- TMEM71 acts as the fusion partner in a TSC1–TMEM71 structural fusion (patient PN21) identified by whole-genome/transcriptome analysis in a metastatic neuroendocrine neoplasm; this fusion supported mTOR-inhibitor (everolimus) recommendation PMID:24326773
Cancer types (linked)
- Pancreatic neuroendocrine neoplasm (PanNEN): TSC1–TMEM71 fusion identified in one patient (PN21) within a WGTA-guided precision oncology cohort for rare metastatic NENs PMID:24326773
Co-occurrence and mutual exclusivity
- The TSC1–TMEM71 fusion co-occurs with mTOR pathway activation in PN21; TSC1 is the primary tumor suppressor partner in this fusion PMID:24326773
Therapeutic relevance
- TSC1–TMEM71 fusion predicted to activate mTOR signaling; supported selection of everolimus (mTOR inhibitor) for PN21 in a clinical precision oncology program PMID:24326773
Open questions
- The molecular consequences of the TSC1–TMEM71 fusion on TSC1 protein function and mTOR pathway output remain to be experimentally validated.
- TMEM71’s normal biological function is poorly characterized.
Sources
This page was processed by crosslinker on 2026-05-09.