Calmodulin Lysine N-Methyltransferase (CAMKMT)

C2ORF34 as one of the genes affected by a homozygous deletion of 179 kb on chromosome 2, which results in the 2p21 deletion syndrome . C2ORF34 is alternatively spliced, producing short and long variants that contain 4 and 11 exons, respectively; the first 3 exons are shared by the 2 variants. The short variant encodes a predicted 132-amino acid cytoplasmic protein, and the long variant encodes a predicted transmembrane protein with a cytoplasmic C terminus. RT-PCR analysis detected expression of the short variant in colon, testis, kidney, and brain. The long variant was expressed in all tissues tested except testis and kidney.C2ORF34 was not expressed in lymphoblastoid cells from patients with the syndrome, whereas both C2ORF34 splice variants were expressed in control cells.