B30.2-like domain proteins: Update and new insights into a rapidly expanding family of proteins

The B30.2 domain is a conserved region of around 170 amino acids associated with several different protein domains, including the immunoglobulin folds of butyrophilin and the RING finger domain of ret linger protein. We recen tly reported several novel members of this family as well as previously und escribed protein families possessing the B30.2 domain. Many proteins have s ubsequently been found to possess this domain, including pyrin/marenostrin and the midline I (MIDI) protein. Mutations in the B30.2 domain of pyrin/ma rsnostrin an implicated in familial Mediterranean fever, and partial loss o f the B30.2 domain of MIDI is responsible for Opitz G/BBB syndrome, charact erized by developmental midline defects. In this study, we scrutinized the available sequence data bases fur the identification of novel B30.2 domain proteins using highly sensitive database-searching tools. In addition, we d iscuss the chromosomal localization of genes in the B30.2 family, since the encoded proteins are likely to be involved in other forms of periodic feve r, autoimmune, and genetic diseases.