PKD2 (polycystin 2, transient receptor potential cation channel)

Gene

• Entrez ID: 5311
• Gene name: Polycystin 2, transient receptor potential cation channel
• Gene symbol: PKD2
• Synonyms (NCBI Gene): APKD2, PC2, PKD4, Pc-2, TRPP2
• Chromosome: 4
• Chromosome location: 4q22.1
• Summary: This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. T

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs58606740	G>A	Pathogenic	Splice donor variant
rs121918039	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs121918040	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121918041	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs121918042	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs121918043	A>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs145343957	G>A	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs145877597	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs200001068	C>A,G,T	Pathogenic	Stop gained, synonymous variant, non coding transcript variant, coding sequence variant, missense variant
rs369678636	C>T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs398122932	->AGG	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, inframe insertion
rs398123307	C>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs398123308	G>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs555242193	C>A,T	Pathogenic, benign	Coding sequence variant, non coding transcript variant, synonymous variant, stop gained
rs749004212	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs752024467	G>A	Likely-pathogenic	Splice donor variant
rs755226061	C>A,G,T	Pathogenic	Missense variant, synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs757757289	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs778235410	C>G,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs778707203	G>A,C,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs778896252	AAACTT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs780351760	C>A,T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, 5 prime UTR variant, synonymous variant
rs886041114	G>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, synonymous variant
rs1057518797	CCCGGGCA>TAGGACG	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1057518906	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1057518969	CT>-	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1060503526	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1131692280	G>A	Pathogenic	Splice donor variant, intron variant
rs1135401753	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1187336837	C>-,CC	Pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1232369409	G>-	Pathogenic	Frameshift variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1255557802	G>A,C,T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1276594505	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant
rs1302726543	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, stop gained
rs1324209174	C>T	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, stop gained
rs1355372474	C>T	Likely-pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1371793191	->C,CCC	Pathogenic	Frameshift variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, inframe insertion
rs1391596181	T>A,C	Pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs1553923513	GGCCCGCCGTGCCCCAGCCCAG>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1553924158	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, stop gained
rs1553924173	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1553924174	->C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs1553925453	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1553925459	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553925467	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553925470	AAGT>-	Uncertain-significance, pathogenic	Intron variant, splice donor variant
rs1553926509	TA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553926529	GTTCAACA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553926905	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553926929	G>A	Likely-pathogenic, pathogenic	Intron variant
rs1553927080	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1553927436	GA>-	Likely-pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant
rs1553927783	G>A	Likely-pathogenic	Splice donor variant
rs1553927823	TACG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553928728	G>A	Pathogenic	Splice acceptor variant
rs1553928730	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1560592253	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1560597874	G>T	Pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1560598042	->C	Pathogenic	Genic upstream transcript variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1560608729	C>AGA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1560617356	TCAA>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1560620277	TAACAGGACC>AACAGG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1560621750	AC>T	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1560626499	A>G	Pathogenic	Splice acceptor variant
rs1560626561	->AT	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1560628245	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1560632930	G>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1578111209	CTCTGCGAGCAGCGGGGCCTGGAGATCGAGATGCAGCGCATCCGGCAGGCGGCCGCGCGGGACCCCCCGGCCGGA>GCGGG	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1578111345	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1578111378	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1578111620	A>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1578111741	AG>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1578111778	G>C	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1578118330	AA>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1578118371	C>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs1578129049	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, 5 prime UTR variant
rs1578130536	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1578130597	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1578130676	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1578133684	C>AA	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant
rs1578135823	A>-	Pathogenic	Splice acceptor variant
rs1578135829	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1578135842	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1578135870	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1578139269	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1578141765	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1578142941	GTATG>-	Pathogenic	Coding sequence variant, intron variant, splice donor variant
rs1578144873	->A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1578144898	TC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1578147448	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1578147458	->GCCATACTGG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1578148821	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1578153553	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1578153598	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001158	hsa-miR-17-5p	Luciferase reporter assay, qRT-PCR, Western blot	19821056
MIRT001158	hsa-miR-17-5p	Luciferase reporter assay, qRT-PCR, Western blot	19821056
MIRT001158	hsa-miR-17-5p	Luciferase reporter assay, qRT-PCR, Western blot	19821056
MIRT001158	hsa-miR-17-5p	Luciferase reporter assay	19821056
MIRT020485	hsa-miR-106b-5p	Western blot	20709030
MIRT028086	hsa-miR-93-5p	Sequencing	20371350
MIRT029117	hsa-miR-26b-5p	Microarray	19088304
MIRT030759	hsa-miR-21-5p	Microarray	18591254
MIRT1237256	hsa-miR-1	CLIP-seq
MIRT1237257	hsa-miR-106a	CLIP-seq
MIRT1237258	hsa-miR-106b	CLIP-seq
MIRT1237259	hsa-miR-17	CLIP-seq
MIRT1237260	hsa-miR-188-5p	CLIP-seq
MIRT1237261	hsa-miR-206	CLIP-seq
MIRT1237262	hsa-miR-20a	CLIP-seq
MIRT1237263	hsa-miR-20b	CLIP-seq
MIRT1237264	hsa-miR-217	CLIP-seq
MIRT1237265	hsa-miR-218	CLIP-seq
MIRT1237266	hsa-miR-298	CLIP-seq
MIRT1237267	hsa-miR-3121-3p	CLIP-seq
MIRT1237268	hsa-miR-3127-5p	CLIP-seq
MIRT1237269	hsa-miR-3163	CLIP-seq
MIRT1237270	hsa-miR-323-5p	CLIP-seq
MIRT1237271	hsa-miR-3609	CLIP-seq
MIRT1237272	hsa-miR-3616-5p	CLIP-seq
MIRT1237273	hsa-miR-3647-5p	CLIP-seq
MIRT1237274	hsa-miR-3673	CLIP-seq
MIRT1237275	hsa-miR-3691-3p	CLIP-seq
MIRT1237276	hsa-miR-369-3p	CLIP-seq
MIRT1237277	hsa-miR-380	CLIP-seq
MIRT1237278	hsa-miR-3908	CLIP-seq
MIRT1237279	hsa-miR-3918	CLIP-seq
MIRT1237280	hsa-miR-3942-5p	CLIP-seq
MIRT1237281	hsa-miR-3945	CLIP-seq
MIRT1237282	hsa-miR-410	CLIP-seq
MIRT1237283	hsa-miR-421	CLIP-seq
MIRT1237284	hsa-miR-4272	CLIP-seq
MIRT1237285	hsa-miR-4292	CLIP-seq
MIRT1237286	hsa-miR-4308	CLIP-seq
MIRT1237287	hsa-miR-4320	CLIP-seq
MIRT1237288	hsa-miR-4438	CLIP-seq
MIRT1237289	hsa-miR-4495	CLIP-seq
MIRT1237290	hsa-miR-4537	CLIP-seq
MIRT1237291	hsa-miR-4666-5p	CLIP-seq
MIRT1237292	hsa-miR-4670-3p	CLIP-seq
MIRT1237293	hsa-miR-4699-3p	CLIP-seq
MIRT1237294	hsa-miR-4699-5p	CLIP-seq
MIRT1237295	hsa-miR-4703-5p	CLIP-seq
MIRT1237296	hsa-miR-4709-5p	CLIP-seq
MIRT1237297	hsa-miR-4712-3p	CLIP-seq
MIRT1237298	hsa-miR-4719	CLIP-seq
MIRT1237299	hsa-miR-4753-3p	CLIP-seq
MIRT1237300	hsa-miR-4761-3p	CLIP-seq
MIRT1237301	hsa-miR-4766-3p	CLIP-seq
MIRT1237302	hsa-miR-4796-3p	CLIP-seq
MIRT1237303	hsa-miR-5095	CLIP-seq
MIRT1237304	hsa-miR-511	CLIP-seq
MIRT1237305	hsa-miR-515-5p	CLIP-seq
MIRT1237306	hsa-miR-519a	CLIP-seq
MIRT1237307	hsa-miR-519b-3p	CLIP-seq
MIRT1237308	hsa-miR-519c-3p	CLIP-seq
MIRT1237309	hsa-miR-519d	CLIP-seq
MIRT1237310	hsa-miR-539	CLIP-seq
MIRT1237311	hsa-miR-548aa	CLIP-seq
MIRT1237312	hsa-miR-548ah	CLIP-seq
MIRT1237313	hsa-miR-548u	CLIP-seq
MIRT1237314	hsa-miR-573	CLIP-seq
MIRT1237315	hsa-miR-613	CLIP-seq
MIRT1237316	hsa-miR-636	CLIP-seq
MIRT1237317	hsa-miR-648	CLIP-seq
MIRT1237318	hsa-miR-659	CLIP-seq
MIRT1237319	hsa-miR-876-3p	CLIP-seq
MIRT1237320	hsa-miR-93	CLIP-seq
MIRT1556807	hsa-miR-4789-3p	CLIP-seq
MIRT2069837	hsa-miR-129-5p	CLIP-seq
MIRT2069838	hsa-miR-143	CLIP-seq
MIRT1237267	hsa-miR-3121-3p	CLIP-seq
MIRT2069839	hsa-miR-3153	CLIP-seq
MIRT2069840	hsa-miR-3184	CLIP-seq
MIRT2069841	hsa-miR-3646	CLIP-seq
MIRT1237276	hsa-miR-369-3p	CLIP-seq
MIRT1237277	hsa-miR-380	CLIP-seq
MIRT2069842	hsa-miR-423-5p	CLIP-seq
MIRT2069843	hsa-miR-4307	CLIP-seq
MIRT1237289	hsa-miR-4495	CLIP-seq
MIRT2069844	hsa-miR-4672	CLIP-seq
MIRT1237294	hsa-miR-4699-5p	CLIP-seq
MIRT2069845	hsa-miR-4712-5p	CLIP-seq
MIRT2069846	hsa-miR-4770	CLIP-seq
MIRT1237304	hsa-miR-511	CLIP-seq
MIRT1237313	hsa-miR-548u	CLIP-seq
MIRT2069847	hsa-miR-567	CLIP-seq
MIRT2069848	hsa-miR-599	CLIP-seq
MIRT2069849	hsa-miR-770-5p	CLIP-seq
MIRT2297120	hsa-miR-101	CLIP-seq
MIRT1237257	hsa-miR-106a	CLIP-seq
MIRT1237258	hsa-miR-106b	CLIP-seq
MIRT2297121	hsa-miR-1253	CLIP-seq
MIRT2297122	hsa-miR-126	CLIP-seq
MIRT2297123	hsa-miR-1268	CLIP-seq
MIRT2297124	hsa-miR-1268b	CLIP-seq
MIRT2297125	hsa-miR-1269	CLIP-seq
MIRT2297126	hsa-miR-1269b	CLIP-seq
MIRT2297127	hsa-miR-1270	CLIP-seq
MIRT2297128	hsa-miR-1288	CLIP-seq
MIRT1237259	hsa-miR-17	CLIP-seq
MIRT2297129	hsa-miR-194	CLIP-seq
MIRT1237262	hsa-miR-20a	CLIP-seq
MIRT1237263	hsa-miR-20b	CLIP-seq
MIRT1237265	hsa-miR-218	CLIP-seq
MIRT2297130	hsa-miR-302a	CLIP-seq
MIRT2297131	hsa-miR-302b	CLIP-seq
MIRT2297132	hsa-miR-302c	CLIP-seq
MIRT2297133	hsa-miR-302d	CLIP-seq
MIRT2297134	hsa-miR-302e	CLIP-seq
MIRT2297135	hsa-miR-3120-3p	CLIP-seq
MIRT1237267	hsa-miR-3121-3p	CLIP-seq
MIRT1237268	hsa-miR-3127-5p	CLIP-seq
MIRT1237270	hsa-miR-323-5p	CLIP-seq
MIRT2297136	hsa-miR-338-5p	CLIP-seq
MIRT2297137	hsa-miR-3671	CLIP-seq
MIRT2297138	hsa-miR-3688-5p	CLIP-seq
MIRT2297139	hsa-miR-372	CLIP-seq
MIRT2297140	hsa-miR-373	CLIP-seq
MIRT1237277	hsa-miR-380	CLIP-seq
MIRT1237278	hsa-miR-3908	CLIP-seq
MIRT1237279	hsa-miR-3918	CLIP-seq
MIRT1237280	hsa-miR-3942-5p	CLIP-seq
MIRT1237281	hsa-miR-3945	CLIP-seq
MIRT2297141	hsa-miR-4251	CLIP-seq
MIRT2297142	hsa-miR-4264	CLIP-seq
MIRT1237284	hsa-miR-4272	CLIP-seq
MIRT2297143	hsa-miR-4432	CLIP-seq
MIRT2297144	hsa-miR-4486	CLIP-seq
MIRT2297145	hsa-miR-4513	CLIP-seq
MIRT2297146	hsa-miR-4515	CLIP-seq
MIRT2297147	hsa-miR-4529-3p	CLIP-seq
MIRT2297148	hsa-miR-4531	CLIP-seq
MIRT2297149	hsa-miR-4643	CLIP-seq
MIRT2297150	hsa-miR-466	CLIP-seq
MIRT1237291	hsa-miR-4666-5p	CLIP-seq
MIRT2297151	hsa-miR-4683	CLIP-seq
MIRT1237295	hsa-miR-4703-5p	CLIP-seq
MIRT2297152	hsa-miR-4704-3p	CLIP-seq
MIRT1237298	hsa-miR-4719	CLIP-seq
MIRT2297153	hsa-miR-4740-5p	CLIP-seq
MIRT1237300	hsa-miR-4761-3p	CLIP-seq
MIRT1237301	hsa-miR-4766-3p	CLIP-seq
MIRT1556807	hsa-miR-4789-3p	CLIP-seq
MIRT1237309	hsa-miR-519d	CLIP-seq
MIRT2297154	hsa-miR-520a-3p	CLIP-seq
MIRT2297155	hsa-miR-520b	CLIP-seq
MIRT2297156	hsa-miR-520c-3p	CLIP-seq
MIRT2297157	hsa-miR-520d-3p	CLIP-seq
MIRT2297158	hsa-miR-520e	CLIP-seq
MIRT1237313	hsa-miR-548u	CLIP-seq
MIRT2297159	hsa-miR-585	CLIP-seq
MIRT2297160	hsa-miR-607	CLIP-seq
MIRT2297161	hsa-miR-620	CLIP-seq
MIRT1237316	hsa-miR-636	CLIP-seq
MIRT1237317	hsa-miR-648	CLIP-seq
MIRT1237319	hsa-miR-876-3p	CLIP-seq
MIRT1237320	hsa-miR-93	CLIP-seq
MIRT2069838	hsa-miR-143	CLIP-seq
MIRT2432132	hsa-miR-186	CLIP-seq
MIRT2432133	hsa-miR-3133	CLIP-seq
MIRT2069841	hsa-miR-3646	CLIP-seq
MIRT2069846	hsa-miR-4770	CLIP-seq
MIRT1237275	hsa-miR-3691-3p	CLIP-seq
MIRT1237305	hsa-miR-515-5p	CLIP-seq
MIRT1237318	hsa-miR-659	CLIP-seq
MIRT2594462	hsa-miR-1179	CLIP-seq
MIRT2594463	hsa-miR-1296	CLIP-seq
MIRT2594464	hsa-miR-1303	CLIP-seq
MIRT2594465	hsa-miR-136	CLIP-seq
MIRT2594466	hsa-miR-151-3p	CLIP-seq
MIRT2594467	hsa-miR-1914	CLIP-seq
MIRT2594468	hsa-miR-1976	CLIP-seq
MIRT2594469	hsa-miR-2052	CLIP-seq
MIRT2594470	hsa-miR-21	CLIP-seq
MIRT2594471	hsa-miR-2276	CLIP-seq
MIRT2594472	hsa-miR-2909	CLIP-seq
MIRT2594473	hsa-miR-3152-3p	CLIP-seq
MIRT2594474	hsa-miR-3158-3p	CLIP-seq
MIRT1237270	hsa-miR-323-5p	CLIP-seq
MIRT2594475	hsa-miR-337-3p	CLIP-seq
MIRT2594476	hsa-miR-33a	CLIP-seq
MIRT2594477	hsa-miR-33b	CLIP-seq
MIRT2594478	hsa-miR-3607-3p	CLIP-seq
MIRT2594479	hsa-miR-3611	CLIP-seq
MIRT2069841	hsa-miR-3646	CLIP-seq
MIRT2594480	hsa-miR-3667-3p	CLIP-seq
MIRT2594481	hsa-miR-3670	CLIP-seq
MIRT2297137	hsa-miR-3671	CLIP-seq
MIRT2594482	hsa-miR-3686	CLIP-seq
MIRT1237275	hsa-miR-3691-3p	CLIP-seq
MIRT2594483	hsa-miR-374c	CLIP-seq
MIRT1237284	hsa-miR-4272	CLIP-seq
MIRT2594484	hsa-miR-4279	CLIP-seq
MIRT2594485	hsa-miR-4282	CLIP-seq
MIRT1237287	hsa-miR-4320	CLIP-seq
MIRT2594486	hsa-miR-4446-3p	CLIP-seq
MIRT2594487	hsa-miR-4448	CLIP-seq
MIRT2594488	hsa-miR-4463	CLIP-seq
MIRT2594489	hsa-miR-4499	CLIP-seq
MIRT2594490	hsa-miR-450b-5p	CLIP-seq
MIRT2594491	hsa-miR-4652-3p	CLIP-seq
MIRT1237294	hsa-miR-4699-5p	CLIP-seq
MIRT2594492	hsa-miR-4708-5p	CLIP-seq
MIRT1237299	hsa-miR-4753-3p	CLIP-seq
MIRT2594493	hsa-miR-4772-3p	CLIP-seq
MIRT2594494	hsa-miR-494	CLIP-seq
MIRT2594495	hsa-miR-507	CLIP-seq
MIRT2594496	hsa-miR-510	CLIP-seq
MIRT2594497	hsa-miR-512-5p	CLIP-seq
MIRT1237305	hsa-miR-515-5p	CLIP-seq
MIRT2594498	hsa-miR-520d-5p	CLIP-seq
MIRT2594499	hsa-miR-524-5p	CLIP-seq
MIRT2594500	hsa-miR-544	CLIP-seq
MIRT2594501	hsa-miR-549	CLIP-seq
MIRT2594502	hsa-miR-550b	CLIP-seq
MIRT2594503	hsa-miR-557	CLIP-seq
MIRT2594504	hsa-miR-584	CLIP-seq
MIRT2594505	hsa-miR-590-5p	CLIP-seq
MIRT2297160	hsa-miR-607	CLIP-seq
MIRT2594506	hsa-miR-655	CLIP-seq
MIRT1237318	hsa-miR-659	CLIP-seq
MIRT1237319	hsa-miR-876-3p	CLIP-seq
MIRT2594507	hsa-miR-888	CLIP-seq
MIRT2594508	hsa-miR-9	CLIP-seq
MIRT2594462	hsa-miR-1179	CLIP-seq
MIRT2594463	hsa-miR-1296	CLIP-seq
MIRT2594464	hsa-miR-1303	CLIP-seq
MIRT2594465	hsa-miR-136	CLIP-seq
MIRT2594466	hsa-miR-151-3p	CLIP-seq
MIRT2594467	hsa-miR-1914	CLIP-seq
MIRT2594468	hsa-miR-1976	CLIP-seq
MIRT2594469	hsa-miR-2052	CLIP-seq
MIRT2594472	hsa-miR-2909	CLIP-seq
MIRT2594473	hsa-miR-3152-3p	CLIP-seq
MIRT2594474	hsa-miR-3158-3p	CLIP-seq
MIRT2594476	hsa-miR-33a	CLIP-seq
MIRT2594477	hsa-miR-33b	CLIP-seq
MIRT2594478	hsa-miR-3607-3p	CLIP-seq
MIRT2594479	hsa-miR-3611	CLIP-seq
MIRT2069841	hsa-miR-3646	CLIP-seq
MIRT2594480	hsa-miR-3667-3p	CLIP-seq
MIRT2594481	hsa-miR-3670	CLIP-seq
MIRT2594482	hsa-miR-3686	CLIP-seq
MIRT1237275	hsa-miR-3691-3p	CLIP-seq
MIRT2594483	hsa-miR-374c	CLIP-seq
MIRT1237283	hsa-miR-421	CLIP-seq
MIRT1237284	hsa-miR-4272	CLIP-seq
MIRT2594484	hsa-miR-4279	CLIP-seq
MIRT1237287	hsa-miR-4320	CLIP-seq
MIRT2594486	hsa-miR-4446-3p	CLIP-seq
MIRT2594487	hsa-miR-4448	CLIP-seq
MIRT2594488	hsa-miR-4463	CLIP-seq
MIRT2594489	hsa-miR-4499	CLIP-seq
MIRT2594491	hsa-miR-4652-3p	CLIP-seq
MIRT1237294	hsa-miR-4699-5p	CLIP-seq
MIRT2594492	hsa-miR-4708-5p	CLIP-seq
MIRT1237296	hsa-miR-4709-5p	CLIP-seq
MIRT1237299	hsa-miR-4753-3p	CLIP-seq
MIRT2594494	hsa-miR-494	CLIP-seq
MIRT1237305	hsa-miR-515-5p	CLIP-seq
MIRT2594498	hsa-miR-520d-5p	CLIP-seq
MIRT2594499	hsa-miR-524-5p	CLIP-seq
MIRT2594501	hsa-miR-549	CLIP-seq
MIRT2594502	hsa-miR-550b	CLIP-seq
MIRT2594504	hsa-miR-584	CLIP-seq
MIRT2594506	hsa-miR-655	CLIP-seq
MIRT1237318	hsa-miR-659	CLIP-seq
MIRT2594507	hsa-miR-888	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001658	Process	Branching involved in ureteric bud morphogenesis	IEP	11891195
GO:0001822	Process	Kidney development	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	IEA
GO:0001889	Process	Liver development	IEP	11891195
GO:0001892	Process	Embryonic placenta development	IEA
GO:0001892	Process	Embryonic placenta development	ISS
GO:0001947	Process	Heart looping	IMP	21719175
GO:0002133	Component	Polycystin complex	IEA
GO:0002133	Component	Polycystin complex	IPI	11901144
GO:0002133	Component	Polycystin complex	ISS
GO:0003127	Process	Detection of nodal flow	IEA
GO:0003127	Process	Detection of nodal flow	ISS
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	16223735
GO:0005244	Function	Voltage-gated monoatomic ion channel activity	IDA	11854751
GO:0005245	Function	Voltage-gated calcium channel activity	IBA
GO:0005245	Function	Voltage-gated calcium channel activity	IDA	11252306, 15692563
GO:0005248	Function	Voltage-gated sodium channel activity	IBA
GO:0005248	Function	Voltage-gated sodium channel activity	IDA	11252306
GO:0005248	Function	Voltage-gated sodium channel activity	IMP	27071085
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	27071085
GO:0005261	Function	Monoatomic cation channel activity	IMP	29899465
GO:0005262	Function	Calcium channel activity	IDA	27214281
GO:0005262	Function	Calcium channel activity	IEA
GO:0005267	Function	Potassium channel activity	IBA
GO:0005267	Function	Potassium channel activity	IDA	26269590
GO:0005267	Function	Potassium channel activity	IEA
GO:0005267	Function	Potassium channel activity	ISS
GO:0005272	Function	Sodium channel activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	24990821, 38483987
GO:0005509	Function	Calcium ion binding	IEA
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	9171830, 9192675, 10097141, 10760273, 12525172, 12809519, 15123714, 15194699, 15692563, 16223735, 16311606, 18235088, 19193631, 19556541, 19812035, 19850920, 20168298, 21642537, 25114176, 25416956, 28514442, 29892012, 30093605, 32296183, 33961781, 36420836
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IDA	10770959
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	16311606
GO:0005783	Component	Endoplasmic reticulum	IDA	10760273, 15123714, 15692563, 19801576, 28154160
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IMP	16223735
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	11854751, 15001556
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	15692563, 16025301, 21044049, 26269590, 28092368, 29899465, 30093605
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	27071085
GO:0005911	Component	Cell-cell junction	IEA
GO:0005911	Component	Cell-cell junction	ISS
GO:0005929	Component	Cilium	IDA	28154160
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISO
GO:0005929	Component	Cilium	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	11252306, 27214281
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	ISS
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IDA	27214281
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	ISO
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	ISS
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007368	Process	Determination of left/right symmetry	ISS
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	IEP	11891195
GO:0008092	Function	Cytoskeletal protein binding	IDA	10760273
GO:0008285	Process	Negative regulation of cell population proliferation	NAS	18664456
GO:0009925	Component	Basal plasma membrane	IDA	10770959
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0015267	Function	Channel activity	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	IEA
GO:0015271	Function	Outward rectifier potassium channel activity	ISS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	30093605
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IDA	27214281
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0021510	Process	Spinal cord development	IEP	11891195
GO:0021915	Process	Neural tube development	IEP	11891195
GO:0022843	Function	Voltage-gated monoatomic cation channel activity	IDA	11252306
GO:0030027	Component	Lamellipodium	IDA	10760273
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0031514	Component	Motile cilium	ISS
GO:0031982	Component	Vesicle	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034614	Process	Cellular response to reactive oxygen species	NAS	18417208
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034703	Component	Cation channel complex	IDA	30093605
GO:0035502	Process	Metanephric part of ureteric bud development	IEP	11891195
GO:0035725	Process	Sodium ion transmembrane transport	IDA	11252306
GO:0035725	Process	Sodium ion transmembrane transport	IMP	27071085
GO:0035904	Process	Aorta development	IEP	11891195
GO:0036064	Component	Ciliary basal body	IDA	15337773
GO:0036064	Component	Ciliary basal body	IEA
GO:0042127	Process	Regulation of cell population proliferation	IMP	15001556
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	19556541, 20168298, 21622852, 27768895, 27991905, 28092368
GO:0042802	Function	Identical protein binding	ISS
GO:0042803	Function	Protein homodimerization activity	IDA	9192675, 38483987
GO:0042805	Function	Actinin binding	IDA	15843396
GO:0042805	Function	Actinin binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043009	Process	Chordate embryonic development	IEA
GO:0043398	Function	HLH domain binding	IPI	16311606
GO:0044325	Function	Transmembrane transporter binding	IPI	10097141
GO:0044782	Process	Cilium organization	IMP	28154160
GO:0045180	Component	Basal cortex	IDA	10770959
GO:0045180	Component	Basal cortex	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IEA
GO:0045429	Process	Positive regulation of nitric oxide biosynthetic process	IMP	19265036
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16311606
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	9192675
GO:0046872	Function	Metal ion binding	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0048763	Function	Calcium-induced calcium release activity	IDA	11854751
GO:0050982	Process	Detection of mechanical stimulus	IBA
GO:0050982	Process	Detection of mechanical stimulus	IEA
GO:0050982	Process	Detection of mechanical stimulus	ISS
GO:0051117	Function	ATPase binding	IEA
GO:0051117	Function	ATPase binding	ISS
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IBA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IDA	11854751
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IEA
GO:0051209	Process	Release of sequestered calcium ion into cytosol	IMP	19265036
GO:0051219	Function	Phosphoprotein binding	IPI	19801576
GO:0051262	Process	Protein tetramerization	IDA	29899465
GO:0051289	Process	Protein homotetramerization	IDA	28092368
GO:0051289	Process	Protein homotetramerization	IEA
GO:0051290	Process	Protein heterotetramerization	IDA	30093605
GO:0051298	Process	Centrosome duplication	NAS	18725310
GO:0051371	Function	Muscle alpha-actinin binding	IBA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	ISS
GO:0060170	Component	Ciliary membrane	IEA
GO:0060674	Process	Placenta blood vessel development	IEA
GO:0060674	Process	Placenta blood vessel development	ISS
GO:0061333	Process	Renal tubule morphogenesis	IEA
GO:0061333	Process	Renal tubule morphogenesis	ISS
GO:0061441	Process	Renal artery morphogenesis	IEP	11891195
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IDA	37681898
GO:0070588	Process	Calcium ion transmembrane transport	IDA	11854751
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071320	Process	Cellular response to cAMP	IMP	26269590
GO:0071464	Process	Cellular response to hydrostatic pressure	IDA	16025301
GO:0071470	Process	Cellular response to osmotic stress	IDA	16025301
GO:0071498	Process	Cellular response to fluid shear stress	IEA
GO:0071498	Process	Cellular response to fluid shear stress	IMP	19265036
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	26269590
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IMP	27071085
GO:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0071910	Process	Determination of liver left/right asymmetry	IMP	21719175
GO:0072075	Process	Metanephric mesenchyme development	IEP	11891195
GO:0072164	Process	Mesonephric tubule development	IEP	11891195
GO:0072177	Process	Mesonephric duct development	IEP	11891195
GO:0072208	Process	Metanephric smooth muscle tissue development	IEP	11891195
GO:0072214	Process	Metanephric cortex development	IEP	11891195
GO:0072218	Process	Metanephric ascending thin limb development	IEP	11891195
GO:0072219	Process	Metanephric cortical collecting duct development	IEP	11891195
GO:0072235	Process	Metanephric distal tubule development	IEP	11891195
GO:0072284	Process	Metanephric S-shaped body morphogenesis	IEP	11891195
GO:0072686	Component	Mitotic spindle	IDA	15123714
GO:0072686	Component	Mitotic spindle	IEA
GO:0090279	Process	Regulation of calcium ion import	IDA	11854751
GO:0097730	Component	Non-motile cilium	IEA
GO:0097730	Component	Non-motile cilium	ISS
GO:0098553	Component	Lumenal side of endoplasmic reticulum membrane	IDA	21044049
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IDA	21044049
GO:0098662	Process	Inorganic cation transmembrane transport	IMP	29899465
GO:0140416	Function	Transcription regulator inhibitor activity	IPI	16311606
GO:0140494	Component	Migrasome	IDA	37681898
GO:1900738	Process	Positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	IMP	16223735
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IMP	16311606

Other IDs

• MIM: 173910
• HGNC: 9009
• e!Ensembl: ENSG00000118762

Protein

• UniProt ID: Q13563
• Protein name: Polycystin-2 (PC2) (Autosomal dominant polycystic kidney disease type II protein) (Polycystic kidney disease 2 protein) (Polycystwin) (R48321) (Transient receptor potential cation channel subfamily P member 2)
• Protein function: Forms a nonselective cation channel (PubMed:11854751, PubMed:11991947, PubMed:15692563, PubMed:26269590, PubMed:27071085, PubMed:31441214, PubMed:39009345). Can function as a homotetrameric ion channel or can form heteromer with PKD1 (PubMed:314
• PDB: 2KLD, 2KLE, 2KQ6, 2Y4Q, 3HRN, 3HRO, 5K47, 5MKE, 5MKF, 5T4D, 6A70, 6D1W, 6T9N, 6T9O, 6WB8, 8HK7, 8K3S, 9DLI, 9DWQ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08016	PKD_channel	267 → 687	Polycystin cation channel	Family
  PF18109	Fer4_24	834 → 868		Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal and adult kidney (PubMed:10770959). Detected at the thick ascending limb of the loop of Henle, at distal tubules, including the distal convoluted tubule and cortical collecting tubules, with weak staining of the colle
• Sequence:

  MVNSSRVQPQQPGDAKRPPAPRAPDPGRLMAGCAAVGASLAAPGGLCEQRGLEIEMQRIR
  QAAARDPPAGAAASPSPPLSSCSRQAWSRDNPGFEAEEEEEEVEGEEGGMVVEMDVEWRP
  GSRRSAASSAVSSVGARSRGLGGYHGAGHPSGRRRRREDQGPPCPSPVGGGDPLHRHLPL
  EGQPPRVAWAERLVRGLRGLWGTRLMEESSTNREKYLKSVLRELVTYLLFLIVLCILTYG
  MMSSNVYYYTRMMSQLFLDTPVSKTEKTNFKTLSSMEDFWKFTEGSLLDGLYWKMQPSNQ
  TEADNRSFIFYENLLLGVPRIRQLRVRNGSCSIPQDLRDEIKECYDVYSVSSEDRAPFGP
  RNGTAWIYTSEKDLNGSSHWGIIATYSGAGYYLDLSRTREETAAQVASLKKNVWLDRGTR
  ATFIDFSVYNANINLFCVVRLLVEFPATGGVIPSWQFQPLKLIRYVTTFDFFLAACEIIF
  CFFIFYYVVEEILEIRIHKLHYFRSFWNCLDVVIVVLSVVAIGINIYRTSNVEVLLQFLE
  DQNTFPNFEHLAYWQIQFNNIAAVTVFFVWIKLFKFINFNRTMSQLSTTMSRCAKDLFGF
  AIMFFIIFLAYAQLAYLVFGTQVDDFSTFQECIFTQFRIILGDINFAEIEEANRVLGPIY
  FTTFVFFMFFILLNMFLAIINDTYSEVKSDLAQQKAEMELSDLIRKGYHKALVKLKLKKN
  TVDDISESLRQGGGKLNFDELRQDLKGKGHTDAEIEAIFTKYDQDGDQELTEHEHQQMRD
  DLEKEREDLDLDHSSLPRPMSSRSFPRSLDDSEEDDDEDSGHSSRRRGSISSGVSYEEFQ
  VLVRRVDRMEHSIGSIVSKIDAVIVKLEIMERAKLKRREVLGRLLDGVAEDERLGRDSEI
  HREQMERLVREELERWESDDAASQISHGLGTPVGLNGQPRPRSSRPSSSQSTEGMEGAGG
  NGSSNVHV

• Sequence length: 968

Pathways

Reactome:

VxPx cargo-targeting to cilium

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Anhydramnios	Likely pathogenic; Pathogenic	rs2110133920	RCV001807674	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant polycystic kidney disease	Pathogenic; Likely pathogenic	rs1578111778, rs1018717398, rs2110107236, rs2110150747, rs2110104725, rs757682666, rs2110112018, rs2110129653, rs2110134005, rs1727413505, rs2110137964, rs2110089194, rs2110104877, rs2110115819, rs1485588385, rs2110112194, rs2110089248, rs2110112083, rs2475869442, rs747688660, rs2475915193, rs2475970000, rs2476357618, rs2475959308, rs2475901790, rs1726233533, rs1445590170, rs2475869382, rs2475979288, rs121918040, rs121918042, rs757757289, rs2475970459, rs1560592253, rs2475941897, rs2476009603, rs2475896175, rs200001068, rs1060503526, rs1131692280, rs1553925470, rs1553928730, rs1232369409, rs1553925453, rs1553926929, rs755226061, rs1553927436, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs369678636, rs1302726543, rs1324209174, rs752024467, rs1371793191, rs749004212, rs1391596181, rs1578144898, rs778235410, rs1578130676, rs1578111620, rs1578135870, rs886041114, rs1578111378, rs1727648258, rs1720594399, rs1726258048, rs1726229033, rs398123308	RCV001385677 RCV001380588 RCV001382094 RCV001844862 RCV001844863 RCV001845013 RCV001845014 RCV001845015 RCV001845018 RCV001845020 RCV001845021 RCV001845023 RCV003746594 RCV001945143 RCV002031774 RCV001935757 RCV001958713 RCV001951521 RCV005096040 RCV002651834 RCV002594444 RCV002736013 RCV002807150 RCV002880561 RCV002894576 RCV003007779 RCV003020531 RCV003037959 RCV005250307 RCV000654888 RCV003764572 RCV001254204 RCV003584255 RCV003584208 RCV003584330 RCV003746998 RCV003746185 RCV001861649 RCV000456934 RCV000542204 RCV000697098 RCV001254287 RCV000559148 RCV000654890 RCV002527509 RCV001236356 RCV001387315 RCV000526689 RCV000556150 RCV000555382 RCV000540659 RCV002529806 RCV000654889 RCV001861899 RCV001868310 RCV001844842 RCV000703336 RCV000695442 RCV000700603 RCV001855876 RCV002533792 RCV001869209 RCV000792244 RCV002549800 RCV001221367 RCV005093295 RCV001254280 RCV001254252 RCV001844856 RCV002541812 RCV003584550	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive polycystic kidney disease	Pathogenic	rs1553924173	RCV000500327	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Biliary tract abnormality	Likely pathogenic; Pathogenic	rs1324209174	RCV005626151	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic kidney disease	Pathogenic	rs1057518797	RCV000414930	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic renal disease	Pathogenic; Likely pathogenic	rs757757289, rs1355372474, rs58606740	RCV005887500 RCV006254158 RCV006272148	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Elevated diastolic blood pressure	Pathogenic	rs1057518969	RCV000415136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Elevated systolic blood pressure	Pathogenic	rs1057518969	RCV000415136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Enlarged kidney	Likely pathogenic; Pathogenic	rs2110133920	RCV001807674	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperechogenic kidneys	Likely pathogenic; Pathogenic	rs2110133920	RCV001807674	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertensive disorder	Pathogenic	rs1057518797	RCV000414930	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multicystic kidney dysplasia	Pathogenic	rs1553927823	RCV000626654	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple renal cysts	Likely pathogenic; Pathogenic	rs2110133920	RCV001807674	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs1727333593	RCV005910926	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PKD2-related disorder	Likely pathogenic; Pathogenic	rs2110127334, rs757682666, rs2110104722, rs58606740, rs1313255190, rs2476357504, rs2476011688, rs2475979288, rs757757289, rs2475895954, rs2475925677, rs2475925813, rs2476008867, rs200001068, rs1553925470, rs1553925453, rs1553926529, rs1187336837, rs1553927080, rs369678636, rs749004212, rs1560632930, rs778235410, rs1578130676, rs145877597, rs1578135870, rs1276594505, rs1726673986, rs1727420867	RCV003908885 RCV003984042 RCV004753381 RCV004752817 RCV003404336 RCV003416649 RCV003404506 RCV003405856 RCV004752706 RCV003896592 RCV003894149 RCV003901872 RCV003924494 RCV004752900 RCV004752918 RCV003960198 RCV003403222 RCV003424074 RCV004752949 RCV003403342 RCV004752975 RCV003420205 RCV004731021 RCV004753027 RCV004753041 RCV003936240 RCV003413781 RCV004753157 RCV004731091 RCV003405299	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic kidney disease	Pathogenic; Likely pathogenic	rs58606740, rs121918042, rs757757289, rs1057518906, rs1057518797, rs1057518969, rs200001068, rs1131692280, rs1553925470, rs1553925453, rs1553926929, rs755226061, rs1553927436, rs1553926905, rs1553927823, rs369678636, rs1302726543, rs1324209174, rs749004212, rs1560632930, rs778235410, rs1355372474, rs1578130676, rs1578129049, rs1553927783, rs1578135940, rs1726229033, rs1726246959, rs1163840810, rs1726676402, rs1726677278, rs1727333593, rs1727412388, rs1727412539, rs1727413597, rs924484889, rs1727782355, rs1720124087, rs1720126853, rs1720127024, rs1720128947, rs1720129561, rs1720325828, rs1720430411, rs1720431219, rs770308463, rs555242193, rs398123308	RCV001292116 RCV001292355 RCV001292200 RCV000415381 RCV000414930 RCV000415136 RCV001292151 RCV001292205 RCV000502098 RCV001292058 RCV001292443 RCV001292360 RCV001292171 RCV001292157 RCV000626654 RCV001292154 RCV001292056 RCV001292055 RCV001292054 RCV001292506 RCV001292538 RCV001292152 RCV001292537 RCV001292155 RCV001292203 RCV001292005 RCV001292376 RCV001292061 RCV001292206 RCV001292534 RCV001292004 RCV001292208 RCV001292239 RCV001292013 RCV001292492 RCV001292118 RCV001292011 RCV001292121 RCV001292060 RCV001292201 RCV001292536 RCV001292242 RCV001292015 RCV001292007 RCV001292410 RCV001292010 RCV001292277 RCV001292362 RCV001292113	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic kidney disease 2	Pathogenic; Likely pathogenic	rs2110107236, rs2110112037, rs2110127334, rs2110080128, rs2110107069, rs757682666, rs1726249249, rs2110104877, rs2110104722, rs2110129645, rs2110115819, rs2110089248, rs2110112181, rs146396414, rs2110141387, rs2110104830, rs2110107353, rs2110133998, rs1578130536, rs2475970407, rs2475869442, rs2475970181, rs2475986943, rs2475915541, rs2475986839, rs2475970000, rs2475979108, rs2475901733, rs2475915207, rs58606740, rs1560597869, rs2475916117, rs2475901958, rs2476011907, rs2475979288, rs2110138755, rs2475953932, rs2476357791, rs2475941629, rs121918039, rs121918040, rs121918041, rs1560598042, rs121918042, rs757757289, rs121918043, rs1560621750, rs2475895954, rs2476357872, rs2475980887, rs1199709583, rs1720128947, rs2475986221, rs2475959368, rs2110134005, rs398123308, rs2475869464, rs2475986648, rs2476357829, rs2476358222, rs2476358800, rs2476008728, rs2476357922, rs1332881642, rs2475901452, rs2475915681, rs2475916022, rs2475942083, rs2110107239, rs2476357331, rs1436409379, rs2475895989, rs1727326556, rs2475869362, rs2475925118, rs1403371346, rs2476008710, rs2475970344, rs1553925852, rs1057518906, rs1057518797, rs1057518969, rs200001068, rs1553924174, rs1060503526, rs1131692280, rs1135401753, rs1553925470, rs1553928730, rs1553923513, rs1232369409, rs1553925453, rs1553926929, rs1553927783, rs755226061, rs1553927436, rs1553926509, rs1553926905, rs1187336837, rs1553927080, rs398122932, rs1553925459, rs1553925467, rs1553927823, rs369678636, rs1302726543, rs1324209174, rs1560626561, rs1560626499, rs752024467, rs555242193, rs1371793191, rs749004212, rs1560632930, rs1560608729, rs1560620277, rs1560628245, rs1578144898, rs778235410, rs1560617356, rs1578130597, rs1578135829, rs1355372474, rs780351760, rs1578130676, rs1578139269, rs1578135823, rs1578111620, rs145877597, rs1578111345, rs1578135870, rs1276594505, rs1578111778, rs1578118330, rs1578129049, rs886041114, rs1578144873, rs1578147448, rs1578111378, rs1578141765, rs1578118371, rs1578142941, rs1726231891, rs1726245372, rs1726673986, rs1727420867, rs1727421192, rs1727790591, rs776718970, rs1720855394, rs1273223177, rs1720325511, rs1721205608, rs1560608538, rs1727423812, rs1720429890, rs1720121027, rs1578135940, rs1720752309, rs1720863460, rs1720594399, rs1727786451, rs1726227364, rs1726258048, rs1726246959, rs1163840810, rs1727333593, rs1720124087, rs1720129561, rs1720431219	RCV002488201 RCV001533140 RCV001533185 RCV001535887 RCV001535903 RCV002477882 RCV005361693 RCV002495992 RCV005038281 RCV001754549 RCV004594606 RCV002479589 RCV002273115 RCV004017917 RCV002273849 RCV002273856 RCV002273857 RCV002273902 RCV005032214 RCV002283920 RCV002284021 RCV002291381 RCV002470559 RCV005397441 RCV005032287 RCV005034394 RCV003225831 RCV003152846 RCV003155750 RCV001095620 RCV003236405 RCV003236660 RCV005036709 RCV003324642 RCV006249872 RCV003444532 RCV003484549 RCV003484552 RCV003486482 RCV000014472 RCV000014473 RCV000014474 RCV000014475 RCV000014476 RCV000014477 RCV000014479 RCV000014480 RCV005358051 RCV003984947 RCV003986032 RCV003991132 RCV003991230 RCV003991330 RCV003991379 RCV003992071 RCV003992077 RCV004545938 RCV004545945 RCV004566384 RCV004566430 RCV004566464 RCV004555236 RCV004555242 RCV004555321 RCV004555410 RCV004555446 RCV004555458 RCV004555465 RCV004555523 RCV004556947 RCV004584159 RCV004586127 RCV004595041 RCV004595045 RCV004595046 RCV004595047 RCV004595190 RCV004595222 RCV004595223 RCV004595224 RCV004595225 RCV005044631 RCV001199322 RCV002488858 RCV000449565 RCV000449626 RCV001000019 RCV000496001 RCV000496095 RCV001001041 RCV000505650 RCV000985200 RCV001535869 RCV005044770 RCV001002478 RCV001001334 RCV002497005 RCV000763531 RCV001095628 RCV004787899 RCV001331141 RCV002289770 RCV001280901 RCV000033173 RCV000625565 RCV000625578 RCV001199198 RCV000763530 RCV000763529 RCV001281322 RCV005001995 RCV002485574 RCV002499203 RCV001095603 RCV005367496 RCV001535902 RCV002477650 RCV000735760 RCV000735686 RCV000735709 RCV002507325 RCV000756535 RCV000766207 RCV000786993 RCV000787001 RCV004594117 RCV001281160 RCV001000981 RCV002501028 RCV000790467 RCV005036129 RCV000987457 RCV005036264 RCV002488093 RCV001281325 RCV001002441 RCV001002340 RCV001001592 RCV001002301 RCV003324602 RCV001002163 RCV001027652 RCV001027653 RCV001029924 RCV001029962 RCV005002161 RCV001095618 RCV001095638 RCV001095601 RCV001095619 RCV001095617 RCV001095612 RCV001095610 RCV001095564 RCV001095613 RCV001196044 RCV001197944 RCV001248766 RCV005038013 RCV006249728 RCV005359997 RCV005038012 RCV001281323 RCV001281159 RCV001281324 RCV001251458 RCV002284477 RCV001280912 RCV001283775 RCV004789516 RCV005038028 RCV002493534 RCV002486099 RCV004796413 RCV001535877 RCV002499520 RCV002290682 RCV002470757	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic kidney disease, adult type	Likely pathogenic	rs1727413505	RCV001281161	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polycystic liver disease 1	Pathogenic	rs1553927823	RCV000626654	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal cyst	Pathogenic	rs58606740, rs1727790591	RCV005625495 RCV005626329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Squamous cell lung carcinoma	Likely pathogenic; Pathogenic	rs2110104722	RCV005922325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic	rs1726673986	RCV005913655	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Uterine corpus endometrial carcinoma	Pathogenic	rs58606740	RCV005895476	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Autosomal dominant polycystic liver disease	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hydrocele testis	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERURICEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTRACRANIAL ANEURYSM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 7	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASE, TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC KIDNEY, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC LIVER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR HYDROCELE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations