TRAF3IP2
Overview
TRAF3IP2 (TRAF3-interacting protein 2, also known as Act1) is an adaptor protein that mediates signalling downstream of IL-17 receptors and is involved in NF-kB pathway activation. In cancer genomics it has been identified as a recurrent structural-variant partner gene in rearrangements affecting the chromatin-remodelling factors HMGA1 and HMGA2 in benign uterine lesions.
Alterations observed in the corpus
- TRAF3IP2 (at 6q21) is a recurrent translocation partner of HMGA1 and HMGA2 in endometrial polyps: 2/23 polyps in a WGS discovery cohort carried TRAF3IP2-involving rearrangements; the rearrangements drive HMGA1/2 overexpression via enhancer hijacking rather than fusion-gene formation PMID:28445112.
Cancer types (linked)
- Endometrial polyps (benign precursor lesions related to UCEC): recurrent rearrangement partner in 2/23 (9%) WGS-profiled polyps PMID:28445112.
Co-occurrence and mutual exclusivity
- Co-occurs with HMGA1/HMGA2 rearrangements as the translocation partner; not a direct driver itself in this context PMID:28445112.
Therapeutic relevance
- No direct therapeutic relevance established from the corpus. HMGA-targeted approaches (e.g., gene silencing of HMGA2) may be relevant given the TRAF3IP2 locus serves as the partner in HMGA rearrangements PMID:28445112.
Open questions
- Whether TRAF3IP2 itself contributes functionally to polyp biology or merely serves as a passive translocation partner has not been determined PMID:28445112.
Sources
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