Figure 3: BIRC2 gene and protein.
From: Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway
BIRC2 is a gene composed of 9 exons (black rectangles). BIRC2 encodes an inhibitor of apoptosis protein, which contributes to innate immune responses by acting as inhibitor of cell death. All the members of the inhibitor of apoptosis (IAP) gene family share three tandem specific motifs: BIR belonging to the zinc-finger domain that mediates protein-protein interaction, a CARD domain is involved in CARD-CARD mediated interaction; and a C-terminal RING domain conferring an E3-ubiquitin ligase activity. The RING domain of BIRC2, BIRC3, and XIAP is required for the ubiquitin activity of the IAPs. Studies have reported that the CARD domain in BIRC2 and BIRC3 act as an inhibitor of the ubiquitin ligase activity. Mutations within the BIR1 domain in BIRC2 alters molecular interaction with TNF receptor associated factor 1 (TRAF1) and TRAF2. The six mutations found by interrogating exome data from 136 pIBD and 106 controls are depicted using arrows and the corresponding protein change shown.
