Chromosome 2 Open Reading Frame 71 (C2orf71)

The C2ORF71 gene is selectively expressed in retina and is involved in photoreceptor function. EST database analysis revealed that human and mouse C2ORF71 are expressed predominantly in the eye. The first 3 amino acids of the C2ORF71 protein (met-gly-cys) as well as pro5 and ser6 are completely conserved across mammals, birds, and fish. Gly2 was predicted to be N-myristoylated and cys3 to be S-palmitoylated, suggesting membrane association of the protein. Fluorescence-tagged C2ORF71 protein localized to the primary cilium of transfected human retinal pigmented epithelial cells.lipid modifications on gly2 and cys3 target the N-terminal 20 amino acids of the C2ORF71 protein to intracellular membranes, and demonstrated that mutation of these residues causes protein mislocalization.