title: B30.2-like domain proteins: update and new insights into a rapidly expanding family of proteins.
abstract: 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 finger protein. We recently reported several novel members of this family as well as previously undescribed protein families possessing the B30.2 domain. Many proteins have subsequently been found to possess this domain, including pyrin/marenostrin and the midline 1 (MID1) protein. Mutations in the B30.2 domain of pyrin/marenostrin are implicated in familial Mediterranean fever, and partial loss of the B30.2 domain of MID1 is responsible for Opitz G/BBB syndrome, characterized by developmental midline defects. In this study, we scrutinized the available sequence data bases for the identification of novel B30.2 domain proteins using highly sensitive database-searching tools. In addition, we discuss the chromosomal localization of genes in the B30.2 family, since the encoded proteins are likely to be involved in other forms of periodic fever, autoimmune, and genetic diseases.
authors.affiliation: Centre National de la Recherche Scientifique URA 1485, Faculté de Médicine, Limoges, France.
authors.forename: J
authors.initials: J
authors.lastname: Henry
authors.forename: I H
authors.initials: IH
authors.lastname: Mather
authors.forename: M F
authors.initials: MF
authors.lastname: McDermott
authors.forename: P
authors.initials: P
authors.lastname: Pontarotti
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001327:Autoimmune Diseases / Q000235:genetics; D002417:Cattle; D002874:Chromosome Mapping; D019992:Databases as Topic; D019143:Evolution, Molecular; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D005810:Multigene Family; D010802:Phylogeny; D011506:Proteins / Q000737:chemistry* / Q000235:genetics*; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D016335:Zinc Fingers
chemical_list: D011506:Proteins