NHERF1

Overview

NHERF1 (Na+/H+ exchanger regulatory factor 1, also known as EBP50) is a scaffold protein involved in receptor signaling. It was newly nominated as a significantly mutated gene in papillary renal cell carcinoma (pRCC) in a multisubtype non-clear-cell RCC genomic study.

Alterations observed in the corpus

  • Newly nominated significantly mutated gene in pRCC in a multisubtype nccRCC WES study PMID:25401301

Cancer types (linked)

  • pRCC: significantly mutated in discovery cohort; functional characterization not yet established PMID:25401301

Co-occurrence and mutual exclusivity

  • Co-nominated with NF2, SLC5A3, PNKD, CPQ, LRP2, CHD3, SETD2, and CRTC1 as significantly mutated genes in pRCC PMID:25401301

Therapeutic relevance

  • No targeted therapies established; oncogenic versus passenger status unresolved PMID:25401301

Open questions

  • NHERF1 lacks functional characterization in pRCC — oncogenic vs passenger status is unestablished PMID:25401301

Sources

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