Aliases for RP2 Gene
External Ids for RP2 Gene
Previous GeneCards Identifiers for RP2 Gene
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]
GeneCards Summary for RP2 Gene
RP2 (Retinitis Pigmentosa 2 (X-Linked Recessive)) is a Protein Coding gene. Diseases associated with RP2 include retinitis pigmentosa 2 and rp2-related retinitis pigmentosa. Among its related pathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. GO annotations related to this gene include GTP binding and GTPase activator activity. An important paralog of this gene is TBCC.
UniProtKB/Swiss-Prot for RP2 Gene
Acts as a GTPase-activating protein (GAP) involved in trafficking between the Golgi and the ciliary membrane. Involved in localization of proteins, such as NPHP3, to the cilium membrane by inducing hydrolysis of GTP ARL3, leading to the release of UNC119 (or UNC119B). Acts as a GTPase-activating protein (GAP) for tubulin in concert with tubulin-specific chaperone C, but does not enhance tubulin heterodimerization. Acts as guanine nucleotide dissociation inhibitor towards ADP-ribosylation factor-like proteins.