TXNIP
Overview
TXNIP (Thioredoxin Interacting Protein, also known as VDUP1 or TBP-2) encodes an arrestin-domain-containing protein that binds and inhibits thioredoxin, thereby regulating cellular redox balance and ROS levels. TXNIP is broadly regarded as a tumor suppressor and growth inhibitor; it is frequently epigenetically silenced or downregulated in diverse human malignancies. Its arrestin domain mediates protein–protein interactions relevant to glucose uptake, apoptosis, and PI3K signaling.
Alterations observed in the corpus
- Frameshift mutation L129fs in the arrestin domain identified in adenoid cystic carcinoma (ACC) whole-genome sequencing discovery cohort; TXNIP is noted as frequently repressed in cancer, consistent with a tumor-suppressive role PMID:23685749
- Mutated in 7% of bladder urothelial carcinomas (BLCA; 5 inactivating mutations); mutually exclusive with NFE2L2 mutations, consistent with both genes converging on the oxidative-stress response pathway PMID:24476821
Cancer types (linked)
- ACC (adenoid cystic carcinoma of salivary gland): frameshift in the arrestin domain observed in a WGS discovery cohort PMID:23685749
Co-occurrence and mutual exclusivity
- Identified alongside TP53, UHRF1, and other DNA-damage checkpoint genes in the same ACC sequencing study, suggesting co-occurrence of multiple genomic alterations affecting p53-pathway regulation PMID:23685749
Therapeutic relevance
- No direct therapeutic targeting reported in the corpus. TXNIP loss-of-function may increase oxidative stress tolerance in tumor cells, potentially influencing sensitivity to agents that elevate ROS.
Open questions
- Whether the TXNIP L129fs mutation is recurrent in larger ACC cohorts or is a passenger event remains to be established given the small discovery cohort (n=24 WGS).
Sources
This page was processed by crosslinker on 2026-05-09. - PMID:24476821
This page was processed by crosslinker on 2026-05-09.