SPART

Overview

SPART (formerly SPG20, also known as Spartin) encodes a multifunctional protein involved in endosomal trafficking, lipid droplet turnover, and ubiquitin signaling. Germline loss-of-function mutations in SPART cause Troyer syndrome. In esophageal adenocarcinoma (EAC), SPART is recurrently somatically mutated at a rate consistent with driver status, with mutations predominantly generated by adenine-to-adenine (AA) transversions characteristic of the EAC mutational spectrum.

Alterations observed in the corpus

  • SPART (formerly SPG20) is mutated in 7% of esophageal adenocarcinomas (EAC); 5 of its mutations are generated by AA transversions, a signature of the EAC somatic mutational process PMID:23525077

Cancer types (linked)

  • EAC: SPART mutated in ~7% of EAC tumors; mutations enriched for the AA-transversion signature characteristic of this cancer type PMID:23525077

Co-occurrence and mutual exclusivity

  • Co-mutation patterns with other EAC drivers (TP53, CDKN2A, SMAD4) not specifically reported for SPART in this cohort.

Therapeutic relevance

  • No direct therapeutic implications reported for SPART in EAC.

Open questions

  • The functional mechanism by which SPART mutations contribute to esophageal adenocarcinogenesis is not characterized; whether SPART acts as a tumor suppressor in this context requires experimental validation.

Sources

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