Alternative titles; symbols
HGNC Approved Gene Symbol: MPPED2
Cytogenetic location: 11p14.1 Genomic coordinates (GRCh38): 11:30,384,079-30,586,993 (from NCBI)
Schwartz et al. (1994) identified a gene, which they designated 239FB, from the 11p13-p14 region between PAX6 (607108) and FSHB (136530) 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. See also 239AB (602112), a related human gene identified in adult brain.
Schwartz et al. (1995) found that the MPPED2 gene has 6 exons spanning about 87 kb.
Green, P., Lipman, D., Hillier, L., Waterston, R., States, D., Claverie, J.-M. Ancient conserved regions in new gene sequences and the protein databases. Science 259: 1711-1716, 1993. [PubMed: 8456298] [Full Text: https://doi.org/10.1126/science.8456298]
Schwartz, F., Eisenman, R., Knoll, J., Gessler, M., Bruns, G. cDNA sequence, genomic organization, and evolutionary conservation of a novel gene from the WAGR region. Genomics 29: 526-532, 1995. [PubMed: 8666403] [Full Text: https://doi.org/10.1006/geno.1995.9973]
Schwartz, F., Neve, R., Eisenman, R., Gessler, M., Bruns, G. A WAGR region gene between PAX-6 and FSHB expressed in fetal brain. Hum. Genet. 94: 658-664, 1994. [PubMed: 7527372] [Full Text: https://doi.org/10.1007/BF00206960]