Alternative titles; symbols
HGNC Approved Gene Symbol: NPAP1
Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:24,675,775-24,683,393 (from NCBI)
By sequencing YAC clones containing a CpG island in the Prader-Willi syndrome (PWS; 176270) critical region on chromosome 15, followed by database analysis and PCR and 3-prime RACE of a human testis cDNA library, Farber et al. (2000) cloned C15ORF2. The deduced protein contains 1,156 amino acids. Northern blot analysis detected a 7.5-kb transcript in adult testis, but not in fetal testis or in any other adult or fetal tissues examined. Southern blot analysis detected C15ORF2 in several primates, but not in any other mammalian or avian species examined. The primate sequences share between 97 and 99% identities.
Farber et al. (2000) found that a CpG island associated with C15ORF2 was methylated in all tissues tested except for germ cells. Although C15ORF2 maps between the imprinted genes MAGEL2 (605283) and SNRPN (182279), they demonstrated that C15ORF2 was biallelically expressed in adult testis.
Buiting et al. (2007) found that C15ORF2 was monoallelically expressed in fetal brain.
Farber et al. (2000) determined that C15ORF2 is an intronless gene with its start codon imbedded within a CpG island.
By genomic sequence analysis, Farber et al. (2000) mapped the C15ORF2 gene to chromosome 15q11-q13. Southern blot analysis indicated that C15ORF2 is a single-copy gene.
Buiting, K., Nazlican, H., Galetzka, D., Wawrzik, M., Gross, S., Horsthemke, B. C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics 89: 588-595, 2007. [PubMed: 17337158] [Full Text: https://doi.org/10.1016/j.ygeno.2006.12.008]
Farber, C., Gross, S., Neesen, J., Buiting, K., Horsthemke, B. Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15. Genomics 65: 174-183, 2000. [PubMed: 10783265] [Full Text: https://doi.org/10.1006/geno.2000.6158]