SPTAN1

Overview

SPTAN1 (Spectrin Alpha, Non-Erythrocytic 1) encodes alpha-II-spectrin, a cytoskeletal scaffolding protein. It was identified as a newly recognized significantly mutated gene (SMG) in muscle-invasive bladder cancer (MIBC) in the TCGA 2017 comprehensive cohort study. SPTAN1 mutations occur in approximately 12% of MIBC tumors, though its functional role as a driver versus passenger mutation in bladder cancer requires further characterization.

Alterations observed in the corpus

  • 12% mutated newly recognized SMG in MIBC (TCGA n=412 cohort) PMID:28988769.

Cancer types (linked)

  • BLCA (Bladder Urothelial Carcinoma) — Recurrently mutated in 12% of MIBC; identified as a new SMG in the TCGA 2017 comprehensive cohort PMID:28988769.

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct therapeutic association reported; cytoskeletal role may contribute to invasion and metastasis biology PMID:28988769.

Open questions

  • Driver versus passenger status of SPTAN1 mutations in MIBC is unresolved; functional studies needed PMID:28988769.

Sources

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