Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6102
Gene name	RP2 activator of ARL3 GTPase
Gene symbol	RP2
Synonyms (NCBI Gene)	DELXp11.3NM23-H10NME10TBCCD2XRP2
Chromosome	X
Chromosome location	Xp11.3
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 therefo

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28933687	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs104894925	C>T	Pathogenic	Coding sequence variant, stop gained
rs104894926	C>G	Pathogenic	Coding sequence variant, stop gained
rs104894927	C>T	Pathogenic	Coding sequence variant, stop gained
rs137852284	TCC>-	Pathogenic	Coding sequence variant, inframe deletion
rs398124239	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs782103396	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs782344765	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs797044507	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044561	T>C	Likely-pathogenic, pathogenic	Initiator codon variant, missense variant
rs878853381	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886044897	AT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064797368	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556313414	TCT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1556313474	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1556313530	->CA	Pathogenic	Frameshift variant, coding sequence variant
rs1556313552	G>A	Likely-pathogenic	Synonymous variant, coding sequence variant
rs1556313557	A>C	Pathogenic	Intron variant
rs1556318579	->TACC	Pathogenic	Frameshift variant, coding sequence variant
rs1556318627	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556318633	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1556318642	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1569531639	AGGGC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602342597	CGGA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602342663	G>T	Pathogenic	Splice donor variant
rs1602347637	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602347741	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1602347786	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602347792	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1602347851	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602347992	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602349705	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1602355025	G>-	Pathogenic	Coding sequence variant, frameshift variant

418

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miRTarBase ID	miRNA	Experiments	Reference
MIRT020630	hsa-miR-155-5p	Proteomics	18668040
MIRT002407	hsa-miR-21-5p	Microarray	18591254
MIRT726709	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT726707	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT726708	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT726706	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT726705	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT726704	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT726703	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT1315313	hsa-miR-1179	CLIP-seq
MIRT1315314	hsa-miR-1185	CLIP-seq
MIRT1315315	hsa-miR-1228	CLIP-seq
MIRT1315316	hsa-miR-1298	CLIP-seq
MIRT1315317	hsa-miR-139-5p	CLIP-seq
MIRT1315318	hsa-miR-153	CLIP-seq
MIRT1315319	hsa-miR-1973	CLIP-seq
MIRT1315320	hsa-miR-25	CLIP-seq
MIRT1315321	hsa-miR-2681	CLIP-seq
MIRT1315322	hsa-miR-3121-3p	CLIP-seq
MIRT1315323	hsa-miR-3122	CLIP-seq
MIRT1315324	hsa-miR-3143	CLIP-seq
MIRT1315325	hsa-miR-3144-3p	CLIP-seq
MIRT1315326	hsa-miR-32	CLIP-seq
MIRT1315327	hsa-miR-3200-5p	CLIP-seq
MIRT1315328	hsa-miR-33a	CLIP-seq
MIRT1315329	hsa-miR-33b	CLIP-seq
MIRT1315330	hsa-miR-342-3p	CLIP-seq
MIRT1315331	hsa-miR-3605-5p	CLIP-seq
MIRT1315332	hsa-miR-361-5p	CLIP-seq
MIRT1315333	hsa-miR-363	CLIP-seq
MIRT1315334	hsa-miR-367	CLIP-seq
MIRT1315335	hsa-miR-3671	CLIP-seq
MIRT1315336	hsa-miR-3679-5p	CLIP-seq
MIRT1315337	hsa-miR-3689a-3p	CLIP-seq
MIRT1315338	hsa-miR-3689c	CLIP-seq
MIRT1315339	hsa-miR-369-5p	CLIP-seq
MIRT1315340	hsa-miR-3913-5p	CLIP-seq
MIRT1315341	hsa-miR-3915	CLIP-seq
MIRT1315342	hsa-miR-3923	CLIP-seq
MIRT1315343	hsa-miR-3928	CLIP-seq
MIRT1315344	hsa-miR-3929	CLIP-seq
MIRT1315345	hsa-miR-410	CLIP-seq
MIRT1315346	hsa-miR-411	CLIP-seq
MIRT1315347	hsa-miR-4267	CLIP-seq
MIRT1315348	hsa-miR-4325	CLIP-seq
MIRT1315349	hsa-miR-4328	CLIP-seq
MIRT1315350	hsa-miR-4419b	CLIP-seq
MIRT1315351	hsa-miR-4435	CLIP-seq
MIRT1315352	hsa-miR-4453	CLIP-seq
MIRT1315353	hsa-miR-4478	CLIP-seq
MIRT1315354	hsa-miR-448	CLIP-seq
MIRT1315355	hsa-miR-4506	CLIP-seq
MIRT1315356	hsa-miR-4538	CLIP-seq
MIRT1315357	hsa-miR-4649-3p	CLIP-seq
MIRT1315358	hsa-miR-4694-3p	CLIP-seq
MIRT1315359	hsa-miR-4716-5p	CLIP-seq
MIRT1315360	hsa-miR-4728-5p	CLIP-seq
MIRT1315361	hsa-miR-4735-5p	CLIP-seq
MIRT1315362	hsa-miR-4755-3p	CLIP-seq
MIRT1315363	hsa-miR-4799-5p	CLIP-seq
MIRT1315364	hsa-miR-485-5p	CLIP-seq
MIRT1315365	hsa-miR-487a	CLIP-seq
MIRT1315366	hsa-miR-490-5p	CLIP-seq
MIRT1315367	hsa-miR-495	CLIP-seq
MIRT1315368	hsa-miR-505	CLIP-seq
MIRT1315369	hsa-miR-508-5p	CLIP-seq
MIRT1315370	hsa-miR-517b	CLIP-seq
MIRT1315371	hsa-miR-522	CLIP-seq
MIRT1315372	hsa-miR-543	CLIP-seq
MIRT1315373	hsa-miR-548ag	CLIP-seq
MIRT1315374	hsa-miR-548ai	CLIP-seq
MIRT1315375	hsa-miR-548l	CLIP-seq
MIRT1315376	hsa-miR-548m	CLIP-seq
MIRT1315377	hsa-miR-548n	CLIP-seq
MIRT1315378	hsa-miR-548t	CLIP-seq
MIRT1315379	hsa-miR-555	CLIP-seq
MIRT1315380	hsa-miR-561	CLIP-seq
MIRT1315381	hsa-miR-576-5p	CLIP-seq
MIRT1315382	hsa-miR-582-5p	CLIP-seq
MIRT1315383	hsa-miR-605	CLIP-seq
MIRT1315384	hsa-miR-628-3p	CLIP-seq
MIRT1315385	hsa-miR-635	CLIP-seq
MIRT1315386	hsa-miR-642a	CLIP-seq
MIRT1315387	hsa-miR-766	CLIP-seq
MIRT1315388	hsa-miR-802	CLIP-seq
MIRT1315389	hsa-miR-873	CLIP-seq
MIRT1315390	hsa-miR-875-5p	CLIP-seq
MIRT1315391	hsa-miR-9	CLIP-seq
MIRT1315392	hsa-miR-92a	CLIP-seq
MIRT1315393	hsa-miR-92b	CLIP-seq
MIRT1553174	hsa-miR-3622a-3p	CLIP-seq
MIRT1553175	hsa-miR-3622b-3p	CLIP-seq
MIRT1553176	hsa-miR-4433	CLIP-seq
MIRT1553177	hsa-miR-4459	CLIP-seq
MIRT1553178	hsa-miR-4768-3p	CLIP-seq
MIRT1553179	hsa-miR-4786-5p	CLIP-seq
MIRT1553180	hsa-miR-544b	CLIP-seq
MIRT2093785	hsa-miR-105	CLIP-seq
MIRT1315315	hsa-miR-1228	CLIP-seq
MIRT2093786	hsa-miR-181a	CLIP-seq
MIRT2093787	hsa-miR-181b	CLIP-seq
MIRT2093788	hsa-miR-181c	CLIP-seq
MIRT2093789	hsa-miR-181d	CLIP-seq
MIRT2093790	hsa-miR-190	CLIP-seq
MIRT2093791	hsa-miR-190b	CLIP-seq
MIRT2093792	hsa-miR-21	CLIP-seq
MIRT2093793	hsa-miR-216a	CLIP-seq
MIRT1315320	hsa-miR-25	CLIP-seq
MIRT1315326	hsa-miR-32	CLIP-seq
MIRT2093794	hsa-miR-331-3p	CLIP-seq
MIRT1315330	hsa-miR-342-3p	CLIP-seq
MIRT1315333	hsa-miR-363	CLIP-seq
MIRT1315334	hsa-miR-367	CLIP-seq
MIRT2093795	hsa-miR-3679-3p	CLIP-seq
MIRT1315345	hsa-miR-410	CLIP-seq
MIRT2093796	hsa-miR-4262	CLIP-seq
MIRT1315347	hsa-miR-4267	CLIP-seq
MIRT2093797	hsa-miR-4275	CLIP-seq
MIRT1315348	hsa-miR-4325	CLIP-seq
MIRT2093798	hsa-miR-4499	CLIP-seq
MIRT2093799	hsa-miR-4537	CLIP-seq
MIRT2093800	hsa-miR-4659a-5p	CLIP-seq
MIRT2093801	hsa-miR-4659b-5p	CLIP-seq
MIRT2093802	hsa-miR-4760-5p	CLIP-seq
MIRT2093803	hsa-miR-4776-3p	CLIP-seq
MIRT2093804	hsa-miR-4792	CLIP-seq
MIRT2093805	hsa-miR-4797-5p	CLIP-seq
MIRT1315369	hsa-miR-508-5p	CLIP-seq
MIRT2093806	hsa-miR-548c-3p	CLIP-seq
MIRT2093807	hsa-miR-579	CLIP-seq
MIRT2093808	hsa-miR-590-5p	CLIP-seq
MIRT1315387	hsa-miR-766	CLIP-seq
MIRT1315392	hsa-miR-92a	CLIP-seq
MIRT1315393	hsa-miR-92b	CLIP-seq
MIRT1315315	hsa-miR-1228	CLIP-seq
MIRT2318243	hsa-miR-184	CLIP-seq
MIRT2093793	hsa-miR-216a	CLIP-seq
MIRT1315320	hsa-miR-25	CLIP-seq
MIRT1315322	hsa-miR-3121-3p	CLIP-seq
MIRT1315323	hsa-miR-3122	CLIP-seq
MIRT1315326	hsa-miR-32	CLIP-seq
MIRT1553174	hsa-miR-3622a-3p	CLIP-seq
MIRT1553175	hsa-miR-3622b-3p	CLIP-seq
MIRT1315333	hsa-miR-363	CLIP-seq
MIRT2318244	hsa-miR-3664-3p	CLIP-seq
MIRT1315334	hsa-miR-367	CLIP-seq
MIRT1315337	hsa-miR-3689a-3p	CLIP-seq
MIRT1315338	hsa-miR-3689c	CLIP-seq
MIRT1315340	hsa-miR-3913-5p	CLIP-seq
MIRT1315344	hsa-miR-3929	CLIP-seq
MIRT2318245	hsa-miR-3938	CLIP-seq
MIRT1315347	hsa-miR-4267	CLIP-seq
MIRT2318246	hsa-miR-4293	CLIP-seq
MIRT1315348	hsa-miR-4325	CLIP-seq
MIRT1315350	hsa-miR-4419b	CLIP-seq
MIRT1553176	hsa-miR-4433	CLIP-seq
MIRT1315352	hsa-miR-4453	CLIP-seq
MIRT1553177	hsa-miR-4459	CLIP-seq
MIRT1315353	hsa-miR-4478	CLIP-seq
MIRT2093799	hsa-miR-4537	CLIP-seq
MIRT1315356	hsa-miR-4538	CLIP-seq
MIRT2093800	hsa-miR-4659a-5p	CLIP-seq
MIRT2093801	hsa-miR-4659b-5p	CLIP-seq
MIRT2318247	hsa-miR-4695-5p	CLIP-seq
MIRT1315360	hsa-miR-4728-5p	CLIP-seq
MIRT1553178	hsa-miR-4768-3p	CLIP-seq
MIRT2093803	hsa-miR-4776-3p	CLIP-seq
MIRT1553179	hsa-miR-4786-5p	CLIP-seq
MIRT2318248	hsa-miR-4804-5p	CLIP-seq
MIRT1315364	hsa-miR-485-5p	CLIP-seq
MIRT1315369	hsa-miR-508-5p	CLIP-seq
MIRT2318249	hsa-miR-510	CLIP-seq
MIRT2318250	hsa-miR-512-5p	CLIP-seq
MIRT1553180	hsa-miR-544b	CLIP-seq
MIRT2093807	hsa-miR-579	CLIP-seq
MIRT2318251	hsa-miR-630	CLIP-seq
MIRT1315385	hsa-miR-635	CLIP-seq
MIRT1315387	hsa-miR-766	CLIP-seq
MIRT1315391	hsa-miR-9	CLIP-seq
MIRT1315392	hsa-miR-92a	CLIP-seq
MIRT1315393	hsa-miR-92b	CLIP-seq
MIRT2318252	hsa-miR-943	CLIP-seq
MIRT1315315	hsa-miR-1228	CLIP-seq
MIRT2093793	hsa-miR-216a	CLIP-seq
MIRT1315320	hsa-miR-25	CLIP-seq
MIRT1315323	hsa-miR-3122	CLIP-seq
MIRT1315326	hsa-miR-32	CLIP-seq
MIRT1315330	hsa-miR-342-3p	CLIP-seq
MIRT1315333	hsa-miR-363	CLIP-seq
MIRT1315334	hsa-miR-367	CLIP-seq
MIRT1315337	hsa-miR-3689a-3p	CLIP-seq
MIRT1315338	hsa-miR-3689c	CLIP-seq
MIRT1315340	hsa-miR-3913-5p	CLIP-seq
MIRT1315347	hsa-miR-4267	CLIP-seq
MIRT2318246	hsa-miR-4293	CLIP-seq
MIRT2093800	hsa-miR-4659a-5p	CLIP-seq
MIRT2093801	hsa-miR-4659b-5p	CLIP-seq
MIRT1315360	hsa-miR-4728-5p	CLIP-seq
MIRT2093803	hsa-miR-4776-3p	CLIP-seq
MIRT1553179	hsa-miR-4786-5p	CLIP-seq
MIRT1315364	hsa-miR-485-5p	CLIP-seq
MIRT2093807	hsa-miR-579	CLIP-seq
MIRT2393864	hsa-miR-891b	CLIP-seq
MIRT1315391	hsa-miR-9	CLIP-seq
MIRT1315392	hsa-miR-92a	CLIP-seq
MIRT1315393	hsa-miR-92b	CLIP-seq
MIRT2458537	hsa-miR-1827	CLIP-seq
MIRT2318244	hsa-miR-3664-3p	CLIP-seq
MIRT1315344	hsa-miR-3929	CLIP-seq
MIRT2318245	hsa-miR-3938	CLIP-seq
MIRT1315347	hsa-miR-4267	CLIP-seq
MIRT1315350	hsa-miR-4419b	CLIP-seq
MIRT1553176	hsa-miR-4433	CLIP-seq
MIRT1553177	hsa-miR-4459	CLIP-seq
MIRT1315353	hsa-miR-4478	CLIP-seq
MIRT1315357	hsa-miR-4649-3p	CLIP-seq
MIRT2318247	hsa-miR-4695-5p	CLIP-seq
MIRT2458538	hsa-miR-4742-3p	CLIP-seq
MIRT1553178	hsa-miR-4768-3p	CLIP-seq
MIRT1315364	hsa-miR-485-5p	CLIP-seq
MIRT2318249	hsa-miR-510	CLIP-seq
MIRT2318250	hsa-miR-512-5p	CLIP-seq
MIRT2318251	hsa-miR-630	CLIP-seq
MIRT1315314	hsa-miR-1185	CLIP-seq
MIRT1315315	hsa-miR-1228	CLIP-seq
MIRT2614051	hsa-miR-1290	CLIP-seq
MIRT2614052	hsa-miR-1322	CLIP-seq
MIRT2614053	hsa-miR-1343	CLIP-seq
MIRT2614054	hsa-miR-142-3p	CLIP-seq
MIRT2458537	hsa-miR-1827	CLIP-seq
MIRT2318243	hsa-miR-184	CLIP-seq
MIRT2614055	hsa-miR-186	CLIP-seq
MIRT1315319	hsa-miR-1973	CLIP-seq
MIRT2614056	hsa-miR-203	CLIP-seq
MIRT2614057	hsa-miR-2115	CLIP-seq
MIRT1315323	hsa-miR-3122	CLIP-seq
MIRT2614058	hsa-miR-3140-5p	CLIP-seq
MIRT2614059	hsa-miR-3148	CLIP-seq
MIRT2614060	hsa-miR-3153	CLIP-seq
MIRT2614061	hsa-miR-3163	CLIP-seq
MIRT2614062	hsa-miR-3167	CLIP-seq
MIRT1315327	hsa-miR-3200-5p	CLIP-seq
MIRT2093794	hsa-miR-331-3p	CLIP-seq
MIRT2614063	hsa-miR-340	CLIP-seq
MIRT1315331	hsa-miR-3605-5p	CLIP-seq
MIRT2614064	hsa-miR-3613-3p	CLIP-seq
MIRT1553174	hsa-miR-3622a-3p	CLIP-seq
MIRT1553175	hsa-miR-3622b-3p	CLIP-seq
MIRT2614065	hsa-miR-365	CLIP-seq
MIRT2318244	hsa-miR-3664-3p	CLIP-seq
MIRT2614066	hsa-miR-3674	CLIP-seq
MIRT2614067	hsa-miR-3677-5p	CLIP-seq
MIRT2093795	hsa-miR-3679-3p	CLIP-seq
MIRT1315336	hsa-miR-3679-5p	CLIP-seq
MIRT1315337	hsa-miR-3689a-3p	CLIP-seq
MIRT1315338	hsa-miR-3689c	CLIP-seq
MIRT2614068	hsa-miR-3691-5p	CLIP-seq
MIRT2614069	hsa-miR-371b-5p	CLIP-seq
MIRT2614070	hsa-miR-383	CLIP-seq
MIRT1315340	hsa-miR-3913-5p	CLIP-seq
MIRT2614071	hsa-miR-3927	CLIP-seq
MIRT1315344	hsa-miR-3929	CLIP-seq
MIRT2614072	hsa-miR-3934	CLIP-seq
MIRT2318245	hsa-miR-3938	CLIP-seq
MIRT2614073	hsa-miR-4261	CLIP-seq
MIRT1315347	hsa-miR-4267	CLIP-seq
MIRT2093797	hsa-miR-4275	CLIP-seq
MIRT2614074	hsa-miR-4279	CLIP-seq
MIRT2318246	hsa-miR-4293	CLIP-seq
MIRT1315350	hsa-miR-4419b	CLIP-seq
MIRT2614075	hsa-miR-4422	CLIP-seq
MIRT1553176	hsa-miR-4433	CLIP-seq
MIRT2614076	hsa-miR-4457	CLIP-seq
MIRT1553177	hsa-miR-4459	CLIP-seq
MIRT1315353	hsa-miR-4478	CLIP-seq
MIRT2614077	hsa-miR-4490	CLIP-seq
MIRT2614078	hsa-miR-4491	CLIP-seq
MIRT2093798	hsa-miR-4499	CLIP-seq
MIRT1315357	hsa-miR-4649-3p	CLIP-seq
MIRT2614079	hsa-miR-4657	CLIP-seq
MIRT2614080	hsa-miR-4662a-5p	CLIP-seq
MIRT2614081	hsa-miR-4668-5p	CLIP-seq
MIRT2614082	hsa-miR-4676-5p	CLIP-seq
MIRT2318247	hsa-miR-4695-5p	CLIP-seq
MIRT2614083	hsa-miR-4722-5p	CLIP-seq
MIRT1315360	hsa-miR-4728-5p	CLIP-seq
MIRT2614084	hsa-miR-4738-3p	CLIP-seq
MIRT2458538	hsa-miR-4742-3p	CLIP-seq
MIRT2614085	hsa-miR-4752	CLIP-seq
MIRT2093802	hsa-miR-4760-5p	CLIP-seq
MIRT1553178	hsa-miR-4768-3p	CLIP-seq
MIRT2614086	hsa-miR-4772-5p	CLIP-seq
MIRT1553179	hsa-miR-4786-5p	CLIP-seq
MIRT2614087	hsa-miR-4795-3p	CLIP-seq
MIRT2093805	hsa-miR-4797-5p	CLIP-seq
MIRT2318248	hsa-miR-4804-5p	CLIP-seq
MIRT1315364	hsa-miR-485-5p	CLIP-seq
MIRT2614088	hsa-miR-507	CLIP-seq
MIRT2318249	hsa-miR-510	CLIP-seq
MIRT2318250	hsa-miR-512-5p	CLIP-seq
MIRT2614089	hsa-miR-516a-3p	CLIP-seq
MIRT1315370	hsa-miR-517b	CLIP-seq
MIRT2614090	hsa-miR-520f	CLIP-seq
MIRT1553180	hsa-miR-544b	CLIP-seq
MIRT2614091	hsa-miR-548ac	CLIP-seq
MIRT2093806	hsa-miR-548c-3p	CLIP-seq
MIRT2614092	hsa-miR-548d-3p	CLIP-seq
MIRT2614093	hsa-miR-548z	CLIP-seq
MIRT2614094	hsa-miR-557	CLIP-seq
MIRT2614095	hsa-miR-562	CLIP-seq
MIRT2614096	hsa-miR-575	CLIP-seq
MIRT2318251	hsa-miR-630	CLIP-seq
MIRT2614097	hsa-miR-876-5p	CLIP-seq
MIRT1315391	hsa-miR-9	CLIP-seq
MIRT2614098	hsa-miR-938	CLIP-seq
MIRT2614099	hsa-miR-940	CLIP-seq
MIRT2614100	hsa-miR-944	CLIP-seq
MIRT1315314	hsa-miR-1185	CLIP-seq
MIRT1315315	hsa-miR-1228	CLIP-seq
MIRT2689899	hsa-miR-1289	CLIP-seq
MIRT2614051	hsa-miR-1290	CLIP-seq
MIRT2614052	hsa-miR-1322	CLIP-seq
MIRT2614053	hsa-miR-1343	CLIP-seq
MIRT2318243	hsa-miR-184	CLIP-seq
MIRT2614055	hsa-miR-186	CLIP-seq
MIRT1315319	hsa-miR-1973	CLIP-seq
MIRT2614056	hsa-miR-203	CLIP-seq
MIRT2689900	hsa-miR-204	CLIP-seq
MIRT2093792	hsa-miR-21	CLIP-seq
MIRT2689901	hsa-miR-211	CLIP-seq
MIRT2689902	hsa-miR-2114	CLIP-seq
MIRT2614057	hsa-miR-2115	CLIP-seq
MIRT2689903	hsa-miR-2392	CLIP-seq
MIRT1315323	hsa-miR-3122	CLIP-seq
MIRT2614058	hsa-miR-3140-5p	CLIP-seq
MIRT2614059	hsa-miR-3148	CLIP-seq
MIRT2614060	hsa-miR-3153	CLIP-seq
MIRT2614061	hsa-miR-3163	CLIP-seq
MIRT2614062	hsa-miR-3167	CLIP-seq
MIRT2689904	hsa-miR-3198	CLIP-seq
MIRT1315327	hsa-miR-3200-5p	CLIP-seq
MIRT2093794	hsa-miR-331-3p	CLIP-seq
MIRT2614063	hsa-miR-340	CLIP-seq
MIRT1315331	hsa-miR-3605-5p	CLIP-seq
MIRT2614064	hsa-miR-3613-3p	CLIP-seq
MIRT1553174	hsa-miR-3622a-3p	CLIP-seq
MIRT1553175	hsa-miR-3622b-3p	CLIP-seq
MIRT2614065	hsa-miR-365	CLIP-seq
MIRT2318244	hsa-miR-3664-3p	CLIP-seq
MIRT2614066	hsa-miR-3674	CLIP-seq
MIRT2093795	hsa-miR-3679-3p	CLIP-seq
MIRT1315336	hsa-miR-3679-5p	CLIP-seq
MIRT1315337	hsa-miR-3689a-3p	CLIP-seq
MIRT1315338	hsa-miR-3689c	CLIP-seq
MIRT2614068	hsa-miR-3691-5p	CLIP-seq
MIRT2614069	hsa-miR-371b-5p	CLIP-seq
MIRT2614070	hsa-miR-383	CLIP-seq
MIRT1315340	hsa-miR-3913-5p	CLIP-seq
MIRT2614071	hsa-miR-3927	CLIP-seq
MIRT1315344	hsa-miR-3929	CLIP-seq
MIRT2614072	hsa-miR-3934	CLIP-seq
MIRT2318245	hsa-miR-3938	CLIP-seq
MIRT2614073	hsa-miR-4261	CLIP-seq
MIRT1315347	hsa-miR-4267	CLIP-seq
MIRT2093797	hsa-miR-4275	CLIP-seq
MIRT2614074	hsa-miR-4279	CLIP-seq
MIRT2318246	hsa-miR-4293	CLIP-seq
MIRT2689905	hsa-miR-4294	CLIP-seq
MIRT2689906	hsa-miR-4309	CLIP-seq
MIRT1315350	hsa-miR-4419b	CLIP-seq
MIRT2614075	hsa-miR-4422	CLIP-seq
MIRT1553176	hsa-miR-4433	CLIP-seq
MIRT1553177	hsa-miR-4459	CLIP-seq
MIRT1315353	hsa-miR-4478	CLIP-seq
MIRT2614077	hsa-miR-4490	CLIP-seq
MIRT2614078	hsa-miR-4491	CLIP-seq
MIRT2093798	hsa-miR-4499	CLIP-seq
MIRT2689907	hsa-miR-4534	CLIP-seq
MIRT1315357	hsa-miR-4649-3p	CLIP-seq
MIRT2614079	hsa-miR-4657	CLIP-seq
MIRT2614080	hsa-miR-4662a-5p	CLIP-seq
MIRT2614081	hsa-miR-4668-5p	CLIP-seq
MIRT2614082	hsa-miR-4676-5p	CLIP-seq
MIRT2318247	hsa-miR-4695-5p	CLIP-seq
MIRT1315360	hsa-miR-4728-5p	CLIP-seq
MIRT2614084	hsa-miR-4738-3p	CLIP-seq
MIRT2458538	hsa-miR-4742-3p	CLIP-seq
MIRT2614085	hsa-miR-4752	CLIP-seq
MIRT2093802	hsa-miR-4760-5p	CLIP-seq
MIRT1553178	hsa-miR-4768-3p	CLIP-seq
MIRT2614086	hsa-miR-4772-5p	CLIP-seq
MIRT2689908	hsa-miR-4775	CLIP-seq
MIRT1553179	hsa-miR-4786-5p	CLIP-seq
MIRT2614087	hsa-miR-4795-3p	CLIP-seq
MIRT2093805	hsa-miR-4797-5p	CLIP-seq
MIRT2689909	hsa-miR-4804-3p	CLIP-seq
MIRT2318248	hsa-miR-4804-5p	CLIP-seq
MIRT1315364	hsa-miR-485-5p	CLIP-seq
MIRT2614088	hsa-miR-507	CLIP-seq
MIRT2318249	hsa-miR-510	CLIP-seq
MIRT2318250	hsa-miR-512-5p	CLIP-seq
MIRT2614089	hsa-miR-516a-3p	CLIP-seq
MIRT1315370	hsa-miR-517b	CLIP-seq
MIRT2614090	hsa-miR-520f	CLIP-seq
MIRT1553180	hsa-miR-544b	CLIP-seq
MIRT2614091	hsa-miR-548ac	CLIP-seq
MIRT2093806	hsa-miR-548c-3p	CLIP-seq
MIRT2614092	hsa-miR-548d-3p	CLIP-seq
MIRT2614093	hsa-miR-548z	CLIP-seq
MIRT2614094	hsa-miR-557	CLIP-seq
MIRT2614095	hsa-miR-562	CLIP-seq
MIRT2614096	hsa-miR-575	CLIP-seq
MIRT2093808	hsa-miR-590-5p	CLIP-seq
MIRT2318251	hsa-miR-630	CLIP-seq
MIRT2614097	hsa-miR-876-5p	CLIP-seq
MIRT1315391	hsa-miR-9	CLIP-seq
MIRT2614098	hsa-miR-938	CLIP-seq
MIRT2614100	hsa-miR-944	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	26455799
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	11847227, 18376416, 26455799
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	TAS
GO:0005515	Function	Protein binding	IPI	11847227, 16472755, 18376416, 26455799, 32296183
GO:0005525	Function	GTP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	12417528
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	12417528, 20106869
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	TAS
GO:0006457	Process	Protein folding	TAS	9697692
GO:0006892	Process	Post-Golgi vesicle-mediated transport	IBA
GO:0006892	Process	Post-Golgi vesicle-mediated transport	IGI	20106869
GO:0006892	Process	Post-Golgi vesicle-mediated transport	IMP	20106869
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IDA	11847227
GO:0007601	Process	Visual perception	TAS	9697692
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016604	Component	Nuclear body	IDA
GO:0031410	Component	Cytoplasmic vesicle	IGI	20106869
GO:0036064	Component	Ciliary basal body	IDA	20106869, 26455799
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0051082	Function	Unfolded protein binding	TAS	9697692
GO:0060271	Process	Cilium assembly	TAS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:1990075	Component	Periciliary membrane compartment	IBA
GO:1990075	Component	Periciliary membrane compartment	IEA

MIM	HGNC	e!Ensembl
300757	10274	ENSG00000102218

O75695

Protein name

Protein XRP2

Protein function

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

PDB

2BX6 , 3BH6 , 3BH7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07986	TBCC	59 → 177	Tubulin binding cofactor C	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Expressed in the rod and cone photoreceptors, extending from the tips of the outer segment (OS) through the inner segment (IS) and outer nuclear layer (ONL) and into the synaptic terminals of the outer plexiform layer (ONL)

Sequence

MGCFFSKRRKADKESRPENEEERPKQYSWDQREKVDPKDYMFSGLKDETVGRLPGTVAGQ
QFLIQDCENCNIYIFDHSATVTIDDCTNCIIFLGPVKGSVFFRNCRDCKCTLACQQFRVR
DCRKLEVFLCCATQPIIESSSNIKFGCFQWYYPELAFQFKDAGLSIFNNTWSNIHDFTPV
SGELNWSLLPEDAVVQDYVPIPTTEELKAVRVSTEANRSIVPISRGQRQKSSDESCLVVL
FAGDYTIANARKLIDEMVGKGFFLVQTKEVSMKAEDAQRVFREKAPDFLPLLNKGPVIAL
EFNGDGAVEVCQLIVNEIFNGTKMFVSESKETASGDVDSFYNFADIQMGI

Sequence length

350

Interactions

View interactions

	Reactome
			Trafficking of myristoylated proteins to the cilium

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the eye	Likely pathogenic	rs1556313474	RCV000504666	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leber congenital amaurosis	Likely pathogenic; Pathogenic	rs1556313552, rs1556313557, rs1569531639	RCV000515686 RCV000515740 RCV000678613	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic	rs2519918532	RCV005930409	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinal dystrophy	Pathogenic; Likely pathogenic	rs2147083250, rs2147081333, rs2147074689, rs1490594879, rs878853381, rs28933687, rs104894927, rs1556313447, rs2519914113, rs2519914307, rs2519914819, rs2519918577, rs1064797368, rs1556318633, rs1924521431 View all (10 more)	RCV004815565 RCV004815693 RCV003888942 RCV004817121 RCV000225675 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs797044561, rs137852284, rs104894927, rs2519913940, rs2519914078, rs1556318627, rs1556318633, rs1556318642, rs1602347792, rs1602349705, rs1602342597, rs1602347786, rs1602347851, rs1602342663, rs1924521431 View all (3 more)	RCV001003180 RCV000787699 RCV000787701 RCV003324673 RCV003324674 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 2	Likely pathogenic; Pathogenic	rs1925392056, rs1428719874, rs2147081133, rs1924523272, rs1924906177, rs2147081422, rs1924915809, rs2147081300, rs2147081378, rs2147089334, rs2147074594, rs2519918709, rs137852284, rs104894925, rs28933687 View all (8 more)	RCV001376363 RCV001353020 RCV001376282 RCV005438985 RCV003336392 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Retinitis pigmentosa 3	Likely pathogenic; Pathogenic	rs1556313552, rs1602347637, rs1602355025	RCV000990803 RCV000990804 RCV000990806	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1924915809, rs1556318633	RCV005914902 RCV005901933	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked retinitis pigmentosa	Likely pathogenic; Pathogenic	rs797044561, rs1556318633	RCV001257801 RCV001257800	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cone-rod dystrophy	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macular dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RP2-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RP2-RELATED RETINOPATHY	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

RP2 (RP2 activator of ARL3 GTPase)