The novel Osgin2 gene, originally known as C8orf1 (chromosome 8 open reading frame 1) or hT41 (human testis 4.1-kb transcript), was identified by Tauchi et al. (1999) while characterizing the neighboring NBS1 gene due to its implication in Nijmegen breakage syndrome (NBS). This evidence concerns the gene OSGIN2 and Nijmegen breakage syndrome.