RP2

Entrez Summary: 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].
UniProt Summary: 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. {ECO:0000269|PubMed:11847227, ECO:0000269|PubMed:18376416, ECO:0000269|PubMed:20106869, ECO:0000269|PubMed:22085962}.

Pfam Domains GO Terms

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/694

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/26
bone	0/26
breast	0/30
central nervous system	0/49
cervix	0/4
colorectal	0/17
esophagus	0/11
fibroblast	0/1
gastric	0/14
kidney	0/18
liver	0/19
lung	0/72
lymphocyte	0/16
ovary	0/25
pancreas	0/22
peripheral nervous system	0/15
plasma cell	0/12
prostate	0/1
skin	0/20
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/28
uterus	0/5

Expression Distribution

periciliary membrane compartment
post-chaperonin tubulin folding pathway
post-Golgi vesicle-mediated transport
unfolded protein binding
ciliary basal body
centriole
cilium
magnesium ion binding
visual perception
sensory perception of light stimulus
protein folding
cytoplasmic vesicle
GTPase activator activity
nuclear body
Golgi vesicle transport
GTP binding
positive regulation of GTPase activity
regulation of GTPase activity
cell morphogenesis
positive regulation of hydrolase activity
cellular component morphogenesis
sensory perception
Golgi apparatus
regulation of hydrolase activity
nervous system process
positive regulation of catalytic activity
protein transport
peptide transport
amide transport
establishment of protein localization
positive regulation of molecular function
nitrogen compound transport
vesicle-mediated transport
system process