Metallophosphoesterase Domain Containing Protein 2 (MPPED2)

Schwartz et al. (1994) identified a gene, which they designated 239FB, from the 11p13-p14 region between PAX6 and FSHB known as the WAGR region (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation).Schwartz et al. (1995) showed that the predicted 294-amino acid protein shares regions of significant identity to a gene identified in an 8.5-day chicken embryo library and 2 C. elegans loci of unknown function. A CpG island occurs at the 5-prime end of the gene. Northern blots detected a 3.1-kb transcript in fetal brain RNA. The extensive conservation of sequence places 239FB among a group of proteins that contains ancient conserved regions (Green et al., 1993) and is, presumably, functionally important.