SNX31
Overview
SNX31 (Sorting Nexin 31) encodes a member of the sorting nexin family characterized by a PX (Phox homology) domain involved in phosphoinositide binding and endosomal trafficking. It contains a FERM-like domain, which has been implicated in protein-protein interactions, potentially including Ras effector interactions. SNX31 was identified as a candidate driver in melanoma through whole-exome sequencing, with distributed missense mutations concentrated in the FERM-like domain, though its precise oncogenic mechanism has not been functionally validated.
Alterations observed in the corpus
- Distributed missense mutations in the FERM-like domain identified as significantly mutated in melanoma WES cohort (121 tumors, Broad); proposed as a potential Ras effector; functional validation of oncogenic activity was not performed in this study PMID:22817889
- Highest expression in the new luminal MIBC subtype (bladder cancer), suggesting umbrella-cell-like differentiation PMID:28988769
Cancer types (linked)
- SKCM: Candidate significantly mutated gene in cutaneous melanoma; mutation pattern concentrated in the FERM-like domain suggests domain-specific functional impact PMID:22817889
Co-occurrence and mutual exclusivity
- RAC1: Both identified as candidate drivers in the same melanoma WES cohort; Ras-pathway effector biology may link the two genes PMID:22817889
Therapeutic relevance
- No direct therapeutic agent; candidate Ras effector biology may have implications for RAS pathway-targeted therapy in melanoma PMID:22817889
Open questions
- Functional validation of SNX31 mutations in melanoma oncogenesis is pending; the Ras effector hypothesis is speculative and requires experimental confirmation PMID:22817889
Sources
- PMID:22817889 — Melanoma WES, Broad Institute, 121 tumors
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