Chromosome 21 Open Reading Frame 2 (C21orf2)

Scott et al. (1998) performed exon trapping to identify genes in the chromosomal region between the MX1 locus and 21qter. One 19-bp exon was identical to several ESTs. The complete EST sequences, RT-PCR, and library screening were used to assemble a full-length cDNA sequence. The gene, termed C21orf2, encodes a 256-amino acid polypeptide. Northern blot analysis of human tissue RNAs revealed 2 ubiquitously expressed mRNAs of 2.2 and 1.2 kb. Analysis of sequence data showed that the gene is encoded by 7 exons spanning 10.5 kb. Scott et al. (1998) localized the C21orf2 gene to chromosome 21q22.3 at a position 1.2 kb distal to the PFKL gene with the direction of transcription toward the centromere. Mutation analysis excluded C21orf2 as the gene for APECED.