PKD2

Summary

PKD2 (polycystin 2, transient receptor potential cation channel, HGNC:9009) is a protein-coding gene on chromosome 4q22.1, encoding Polycystin-2 (Q13563). Forms a nonselective cation channel. It is haploinsufficient (ClinGen: sufficient evidence).

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. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2.

Source: NCBI Gene 5311 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autosomal dominant polycystic kidney disease (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 9
• Clinical variants (ClinVar): 1,319 total — 256 pathogenic, 85 likely-pathogenic
• Phenotypes (HPO): 1
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000297

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9009
Approved symbol	PKD2
Name	polycystin 2, transient receptor potential cation channel
Location	4q22.1
Locus type	gene with protein product
Status	Approved
Aliases	PKD4, PC2, Pc-2, TRPP2
Ensembl gene	ENSG00000118762
Ensembl biotype	protein_coding
OMIM	173910
Entrez	5311

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 7 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000237596, ENST00000502363, ENST00000506367, ENST00000506727, ENST00000508588, ENST00000511337, ENST00000512858, ENST00000927447, ENST00000927448, ENST00000956199, ENST00000956200

RefSeq mRNA: 1 — MANE Select: NM_000297 NM_000297

CCDS: CCDS3627

Canonical transcript exons

ENST00000237596 — 15 exons

Exon	Start	End
ENSE00000801163	88007635	88008328
ENSE00000801165	88036220	88036353
ENSE00000801167	88043233	88043457
ENSE00000801168	88046642	88046870
ENSE00000801171	88057983	88058103
ENSE00000801177	88075458	88077777
ENSE00003499818	88061906	88062004
ENSE00003543619	88051991	88052158
ENSE00003553697	88056086	88056267
ENSE00003576969	88019458	88019571
ENSE00003579436	88038251	88038501
ENSE00003618854	88065374	88065495
ENSE00003658967	88067898	88068061
ENSE00003675087	88065762	88065879
ENSE00003692559	88074812	88074959

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 98.99.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.0238 / max 339.1804, expressed in 1729 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48785	10.7516	1726
48786	0.1383	54
48787	0.1338	50

Top tissues by expression

296 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
blood vessel layer	UBERON:0004797	98.99	gold quality
calcaneal tendon	UBERON:0003701	97.97	gold quality
saphenous vein	UBERON:0007318	97.56	gold quality
renal medulla	UBERON:0000362	97.55	gold quality
ascending aorta	UBERON:0001496	97.46	gold quality
thoracic aorta	UBERON:0001515	97.44	gold quality
synovial joint	UBERON:0002217	97.22	gold quality
descending thoracic aorta	UBERON:0002345	96.82	gold quality
germinal epithelium of ovary	UBERON:0001304	96.78	gold quality
aorta	UBERON:0000947	96.49	gold quality
myometrium	UBERON:0001296	96.19	gold quality
right coronary artery	UBERON:0001625	96.00	gold quality
stromal cell of endometrium	CL:0002255	95.98	gold quality
popliteal artery	UBERON:0002250	95.77	gold quality
tibial artery	UBERON:0007610	95.76	gold quality
artery	UBERON:0001637	95.60	gold quality
decidua	UBERON:0002450	95.57	gold quality
body of uterus	UBERON:0009853	95.57	gold quality
pericardium	UBERON:0002407	95.35	gold quality
mucosa of stomach	UBERON:0001199	95.24	gold quality
urethra	UBERON:0000057	95.23	gold quality
seminal vesicle	UBERON:0000998	94.79	gold quality
parietal pleura	UBERON:0002400	94.79	gold quality
coronary artery	UBERON:0001621	94.52	gold quality
left coronary artery	UBERON:0001626	94.43	gold quality
left uterine tube	UBERON:0001303	94.12	gold quality
visceral pleura	UBERON:0002401	94.09	gold quality
pleura	UBERON:0000977	94.03	gold quality
cauda epididymis	UBERON:0004360	93.64	gold quality
trigeminal ganglion	UBERON:0001675	93.51	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ENAD-17	no	326.60
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

186 targeting PKD2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AR-5P	99.94	71.28	3515

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• TTK69 is required for early (before the end of stage 4) repression of tll transcription. (PMID:12128207)
• Using neural repression as an assay, we dissected functional domains of Ttk, confirming the importance of the bric-a-brac-tramtrack-broad complex (BTB) motif. (PMID:12204250)
• directly regulates the transcription of string and thereby cell proliferation (PMID:12447387)
• identification of a novel allele of tramtrack (PMID:12490195)
• In different types of glial cells, REPO can act alone, or cooperate with either TTK69 or PNTP1 to regulate different target genes. (PMID:12702656)
• the binding of TTK69 prevents the interaction of GAGA with the transcription machinery and compromises its activation potential (PMID:14701830)
• Tramtrack downregulates Cyclin E expression and is probably involved in the exit of cells from the cell cycle. (PMID:15829522)
• A downstream target of Notch, tramtrack, acts at the mitotic-to-endocycle transition. JNK pathway is required to promote mitosis prior to the transition, independent of the cell cycle components acted on by the Notch pathway. (PMID:16542414)
• Results suggest that the involvement of Tramtrack in different steps of tube morphogenesis identifies it as a key player in tracheal development. (PMID:17881489)
• Sina protein may direct the degradation of the transcriptional repressor Tramtrack (Ttk) using two different mechanisms. (PMID:17962185)
• Deubiquitinylating enzyme UBP64 controls cell fate through stabilization of tkk. (PMID:18160715)
• Tramtrack (Ttk), a zinc-finger protein, is essential for the endocycle/gene amplification switch, is regulated negatively by Notch and positively by EcR. (PMID:18779369)
• Tramtrack69 (TTK69) controls the fates and shapes of all columnar follicle cells (PMID:19934014)
• Results lead to conclude that Ttk69 can either directly or indirectly repress lz gene expression to prevent the premature development of R7 precursor cells in the developing eye of Drosophila. (PMID:20003234)
• TTK69 is able to bind chromatin in the absence of NuRD, but targeting of NuRD is dependent on TTK69. (PMID:20733004)
• discovered multiple roles of Ttk in the development of the tracheal system on the morphogenetic level. Here, we sought to identify some of the underlying genetic components that are responsible for the tracheal phenotypes of Ttk mutants (PMID:22216153)
• The GBS two-component system CovS/CovR, which is the major acid response regulator in this organism, is required for survival inside the phagosome of macrophages. (PMID:22331428)
• Tramtrack69 functions as a developmental switch in Drosophila follicle cells where it is regulated by miR-7. (PMID:23325762)
• Ttk69 plays an instructive role in the growth of R7 photoreceptor axon terminals (PMID:23345225)
• Data indicate that tramtrack69 regulates ovary epithelial tube morphogenesis through Paxillin, Dynamin, and the homeobox protein Mirror. (PMID:23545328)
• The presence and timing of ttk69 expression are essential for somatic muscle development and required for the balance between founder cells and fusion-competent myoblasts. (PMID:24961800)
• Ttk69 acts as a master repressor of enteroendocrine cell specification in Drosophila intestinal stem cell lineages. (PMID:26293304)
• N activity is required to promote dpn transcription; only in R7 photoreceptor precursors does the removal of Ttk coincide with high N activity; and only in this cell does Dpn expression result (PMID:27427987)
• Ttk69 causes the histone deacetylation-mediated repression of tll via the interaction of Pits and Sin3A (PMID:27622813)
• Ttk69 plays a central role in shaping neural cell lineages . Ttk69 (1) promotes cell cycle exit of neural stem cells by downregulating CycE, and (2) regulates cell-fate acquisition and terminal differentiation, by downregulating the expression of hamlet and upregulating that of Suppressor of Hairless. (PMID:31073020)
• Drosophila miR-87 promotes dendrite regeneration by targeting the transcriptional repressor Tramtrack69. (PMID:32764744)
• TTK Isoforms Interact with Two Regions of the Mep-1 Protein of Drosophila melanogaster. (PMID:34189645)
• functions as a calcium-activated intracellular calcium release channel in vivo, and polycystic kidney disease results from the loss of a regulated intracellular calcium release signalling mechanism (PMID:11854751)
• found profound differences in the spatiotemporal expression of PKD1 and PKD2 during nephrogenesis, PKD2 being expressed earlier and more diffusely than PKD1 (PMID:11891195)
• identification, characterization, and localization of a complex with polycystin 1 (PMID:11901144)
• role in mediating cation channel activity (PMID:11991947)
• Several independent lines of evidence reveal that the carboxyl terminal domain (D682-V968) of polycystin 2 interacts with cardiac and skeletal isoforms of troponin I. (PMID:12525172)
• identified and demonstrated that the intracellular C terminus of PC2 associates with a core regulatory protein of the actin cytoskeleton system, tropomyosin-1 (PMID:12527301)
• that the location of PKD2 mutations did not influence the age of onset of ESRD, however, patients with splice site mutations appeared to have milder renal disease compared with patients with other mutation types (PMID:12707387)
• REVIEW: Role in renal tubulogenesis (PMID:12946628)
• An at-least weak hot spot in exon 1 of the PKD2 gene was found in autosomal dominant polycystic kidney disease patients in the Czech Republic. (PMID:14993477)
• In PKD2- B-lymphoblastoid cells, transfection of a PKD2 full-length cDNA causes an increase in intracellular Ca2+ levels & cell proliferation. PC2 functions in a Ca2+ signaling context, which in turn modulates gene expression. (PMID:15001556)
• Results show that mDia1 and PKD2 interact in native and in transfected cells, and binding is mediated by the cytoplasmic C terminus of PKD2 binding to the mDia1 N terminus. (PMID:15123714)
• PC2 channel function may be essential in renal cell function and kidney development–REVIEW (PMID:15130895)
• the intracellular location of polycystin-2 is regulated by PIGEA-14 (PMID:15194699)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	pkd2	ENSDARG00000014098
mus_musculus	Pkd2	ENSMUSG00000034462
drosophila_melanogaster	Pkd2	FBGN0041195
caenorhabditis_elegans		WBGENE00004035

Paralogs (10): PKD1 (ENSG00000008710), PKD2L2 (ENSG00000078795), PKD2L1 (ENSG00000107593), PKDREJ (ENSG00000130943), PKD1L1 (ENSG00000158683), PKD1L2 (ENSG00000166473), LOXHD1 (ENSG00000167210), DENND5B (ENSG00000170456), DENND5A (ENSG00000184014), PKD1L3 (ENSG00000277481)

Protein

Protein identifiers

Polycystin-2 — Q13563 (reviewed: Q13563)

Alternative names: Autosomal dominant polycystic kidney disease type II protein, Polycystic kidney disease 2 protein, Polycystwin, R48321, Transient receptor potential cation channel subfamily P member 2

All UniProt accessions (2): Q13563, B4DFN3

UniProt curated annotations — full annotation on UniProt →

Function. Forms a nonselective cation channel. Can function as a homotetrameric ion channel or can form heteromer with PKD1. Displays distinct function depending on its subcellular localization and regulation by its binding partners. In primary cilium functions as a cation channel, with a preference for monovalent cations over divalent cations that allows K(+), Na(+) and Ca(2+) influx, with low selectivity for Ca(2+). Involved in fluid-flow mechanosensation by the primary cilium in renal epithelium. In the endoplasmic reticulum, likely functions as a K(+) channel to facilitate Ca(2+) release. The heterotetrameric PKD1/PKD2 channel has higher Ca(2+) permeability than homomeric PKD2 channel and acts as a primarily Ca(2+)-permeable channel. Interacts with and acts as a regulator of a number of other channels, such as TRPV4, TRPC1, IP3R, RYR2, ultimately further affecting intracellular signaling, to modulate intracellular Ca(2+) signaling. Together with TRPV4, forms mechano- and thermosensitive channels in cilium. In cardiomyocytes, PKD2 modulates Ca(2+) release from stimulated RYR2 receptors through direct association. Also involved in left-right axis specification via its role in sensing nodal flow; forms a complex with PKD1L1 in cilia to facilitate flow detection in left-right patterning. Acts as a regulator of cilium length together with PKD1. Mediates systemic blood pressure and contributes to the myogenic response in cerebral arteries though vasoconstriction.

Subunit / interactions. Homotetramer. Component of the heterotetrameric polycystin channel complex with PKD1; the tetramer contains one PKD1 chain and three PKD2 chains. Isoform 1 interacts with PKD1 while isoform 3 does not. Interacts with PKD1L1; probably forms a Ca(2+) channel. Interacts with CD2AP. Interacts with HAX1. Interacts with NEK8. Part of a complex containing AKAP5, ADCY5, ADCY6 and PDE4C. Interacts (via C-terminus) with TRPV4 (via C-terminus). Interacts (via C-terminal acidic region) with PACS1 and PACS2; these interactions retain the protein in the endoplasmic reticulum and prevent trafficking to the cell membrane. Interacts with TMEM33. Form a heterotetramer with TRPC1 with a 2:2 stoichiometry; has distinct channel properties separate from PKD2 or TRPC1 homomers alone. Interacts with TMEM120A; TMEM120A inhibits PKD2 channel activity through the physical association of PKD2 with TMEM120A. Interacts (via N-terminus) with RYR2; regulates RYR2 channel activity.

Subcellular location. Cell projection. Cilium membrane. Endoplasmic reticulum membrane. Cell membrane. Basolateral cell membrane. Cytoplasmic vesicle membrane. Golgi apparatus. Vesicle. Secreted. Extracellular exosome.

Tissue specificity. Detected in fetal and adult kidney. 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 collecting duct. Detected on placenta syncytiotrophoblasts (at protein level). Strongly expressed in ovary, fetal and adult kidney, testis, and small intestine. Not detected in peripheral leukocytes.

Post-translational modifications. Phosphorylated. Phosphorylation is important for protein function; a mutant that lacks the N-terminal phosphorylation sites cannot complement a zebrafish pkd2-deficient mutant. PKD-mediated phosphorylation at the C-terminus regulates its function in the release of Ca(2+) stores from the endoplasmic reticulum. Phosphorylation at Ser-812 regulates PKD2 trafficking. Phosphorylation at Ser-76 is required for PKD2 trafficking to or retention at the lateral plasma membrane. Phosphorylation at Ser-801, Ser-812 and Ser-829 regulates PKD2 channel activity. N-glycosylated. The four subunits in a tetramer probably differ in the extent of glycosylation; simultaneous glycosylation of all experimentally validated sites would probably create steric hindrance. Thus, glycosylation at Asn-305 is not compatible with glycosylation at Asn-328; only one of these two residues is glycosylated at a given time. Sumoylated by SUMO1; sumoylation regulates PKD2 membrane recycling and is necessary for intravascular pressure-induced arterial contractility.

Disease relevance. Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] An autosomal dominant disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. It represents approximately 15% of the cases of autosomal dominant polycystic kidney disease. PKD2 is clinically milder than PKD1 but it has a deleterious impact on overall life expectancy. The disease is caused by variants affecting the gene represented in this entry.

Activity regulation. Channel activity is regulated by phosphorylation. Channel activity is regulated by intracellular Ca(2+). At the endoplasmic reticulum membrane (ER), TMEM33 enhances its channel activity. TMEM120A inhibits the channel activity of PKD2, and mediates mechanosensitivity of the PKD2-TMEM120A channel complex. PKD1/PKD2 complex on the plasma membrane is activated by PKD1 N-terminus.

Miscellaneous. Minor isoform.

Similarity. Belongs to the polycystin family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q13563-1	1	yes
Q13563-2	2, delta6
Q13563-3	3, delta7
Q13563-4	4, delta9
Q13563-5	5, delta12/13

RefSeq proteins (1): NP_000288* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002048	EF_hand_dom	Domain
IPR003915	PKD_2	Family
IPR011992	EF-hand-dom_pair	Homologous_superfamily
IPR013122	PKD1_2_channel	Domain
IPR027359	Volt_channel_dom_sf	Homologous_superfamily
IPR046791	Polycystin_dom	Domain
IPR051223	Polycystin	Family

Pfam: PF08016, PF18109, PF20519

Catalyzed reactions (Rhea), 3 shown:

• K(+)(in) = K(+)(out) (RHEA:29463)
• Ca(2+)(in) = Ca(2+)(out) (RHEA:29671)
• Na(+)(in) = Na(+)(out) (RHEA:34963)

UniProt features (171 total): mutagenesis site 42, helix 27, sequence variant 19, strand 13, turn 10, topological domain 8, compositionally biased region 7, binding site 7, modified residue 7, transmembrane region 6, region of interest 6, splice variant 6, glycosylation site 5, sequence conflict 2, chain 1, intramembrane region 1, domain 1, coiled-coil region 1, short sequence motif 1, disulfide bond 1

Structure

Experimental structures (PDB)

31 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
3HRN	X-RAY DIFFRACTION	1.9
3HRO	X-RAY DIFFRACTION	1.9
8ZKH	ELECTRON MICROSCOPY	2.3
9DLI	ELECTRON MICROSCOPY	2.7
9DWQ	ELECTRON MICROSCOPY	2.76
8ZKR	ELECTRON MICROSCOPY	2.8
6T9N	ELECTRON MICROSCOPY	2.96
5T4D	ELECTRON MICROSCOPY	3
8HK7	ELECTRON MICROSCOPY	3
8K3S	ELECTRON MICROSCOPY	3
8Z6B	ELECTRON MICROSCOPY	3
9DWT	ELECTRON MICROSCOPY	3.01
8Z6F	ELECTRON MICROSCOPY	3.08
8Z6H	ELECTRON MICROSCOPY	3.1
8ZKS	ELECTRON MICROSCOPY	3.21
6WB8	ELECTRON MICROSCOPY	3.24
8ZKT	ELECTRON MICROSCOPY	3.34
8ZKU	ELECTRON MICROSCOPY	3.34
9L0M	ELECTRON MICROSCOPY	3.34
8ZL8	ELECTRON MICROSCOPY	3.38
6T9O	ELECTRON MICROSCOPY	3.39
6D1W	ELECTRON MICROSCOPY	3.54
6A70	ELECTRON MICROSCOPY	3.6
9L0W	ELECTRON MICROSCOPY	3.69
5MKF	ELECTRON MICROSCOPY	4.2
5K47	ELECTRON MICROSCOPY	4.22
5MKE	ELECTRON MICROSCOPY	4.3
2KLD	SOLUTION NMR
2KLE	SOLUTION NMR
2KQ6	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13563-F1	71.40	0.38

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (7): 557; 641; 763; 765; 767; 769; 774

Post-translational modifications (7): 76, 80, 137, 801, 808, 812, 829

Disulfide bonds (1): 331–344

Glycosylation sites (5): 299, 305, 328, 362, 375

Mutagenesis-validated functional residues (42):

Position	Phenotype
804	loss of phosphorylation at ser-801.
812	decreases interaction with pacs1 and enhances expression at the cell membrane. decreases phosphorylation; when associate
812	no effect on interaction with pacs1.
815–817	strongly decreases interaction with pacs1 and enhances expression at the cell membrane.
829	abolishes increased channel opening in response to camp and phosphorylation by pka.
831	decreases phosphorylation; when associated with a-721; a-801; a-812 and a-943.
842	abolishes oligomerization and interaction with pkd1; when associated with a-846; a-849; a-860; a-863 and a-867.
842	loss of protein solubility.
846	abolishes oligomerization and interaction with pkd1; when associated with a-842; a-849; a-860; a-863 and a-867.
846	loss of protein solubility.
849	abolishes oligomerization and interaction with pkd1; when associated with a-842; a-846; a-860; a-863 and a-867.
849	loss of protein solubility.
853	loss of protein solubility.
856	loss of protein solubility.
860	abolishes oligomerization and interaction with pkd1; when associated with a-842; a-846; a-849; a-863 and a-867.
863	abolishes oligomerization and interaction with pkd1; when associated with a-842; a-846; a-849; a-860 and a-867.
863	loss of protein solubility; when associated with k-849.
867	abolishes oligomerization and interaction with pkd1; when associated with a-842; a-846; a-849; a-860 and a-863.
943	decreases phosphorylation; when associated with a-721; a-801; a-812 and a-831.
76	abolishes phosphorylation of the n-terminal domain. abolishes the ability to complement a pkd2-deficient zebrafish mutan
80	decreases phosphorylation of the n-terminal domain. abolishes the ability to complement a pkd2-deficient zebrafish mutan
201	abolishes increased channel activity due to a gain of function mutation; when associated with p-604.
331	does not affect localization to the cilium. loss of ion channel function.
604	no effect on channel activation.
604	gain-of-function mutation resulting in increased channel activity. absence of gain of function; when associated with f-6

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5620916	VxPx cargo-targeting to cilium

MSigDB gene sets: 568 (showing top): GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_POTASSIUM_ION_TRANSPORT, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_METANEPHRIC_NEPHRON_MORPHOGENESIS, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_METANEPHROS_DEVELOPMENT, GOBP_PROTEIN_HOMOTETRAMERIZATION, GOBP_RESPONSE_TO_ACID_CHEMICAL, PAL_PRMT5_TARGETS_UP

GO Biological Process (65): branching involved in ureteric bud morphogenesis (GO:0001658), liver development (GO:0001889), embryonic placenta development (GO:0001892), heart looping (GO:0001947), detection of nodal flow (GO:0003127), calcium ion transport (GO:0006816), intracellular calcium ion homeostasis (GO:0006874), cell surface receptor signaling pathway (GO:0007166), cell surface receptor signaling pathway via JAK-STAT (GO:0007259), determination of left/right symmetry (GO:0007368), heart development (GO:0007507), negative regulation of cell population proliferation (GO:0008285), positive regulation of gene expression (GO:0010628), Wnt signaling pathway (GO:0016055), spinal cord development (GO:0021510), neural tube development (GO:0021915), cellular response to reactive oxygen species (GO:0034614), metanephric part of ureteric bud development (GO:0035502), sodium ion transmembrane transport (GO:0035725), aorta development (GO:0035904), regulation of cell population proliferation (GO:0042127), cilium organization (GO:0044782), positive regulation of nitric oxide biosynthetic process (GO:0045429), positive regulation of transcription by RNA polymerase II (GO:0045944), detection of mechanical stimulus (GO:0050982), release of sequestered calcium ion into cytosol (GO:0051209), protein tetramerization (GO:0051262), protein homotetramerization (GO:0051289), protein heterotetramerization (GO:0051290), centrosome duplication (GO:0051298), establishment of localization in cell (GO:0051649), regulation of cell cycle (GO:0051726), placenta blood vessel development (GO:0060674), renal tubule morphogenesis (GO:0061333), renal artery morphogenesis (GO:0061441), calcium ion transmembrane transport (GO:0070588), cellular response to calcium ion (GO:0071277), cellular response to cAMP (GO:0071320), cellular response to hydrostatic pressure (GO:0071464), cellular response to osmotic stress (GO:0071470)

GO Molecular Function (27): signaling receptor binding (GO:0005102), voltage-gated monoatomic ion channel activity (GO:0005244), voltage-gated calcium channel activity (GO:0005245), voltage-gated sodium channel activity (GO:0005248), voltage-gated potassium channel activity (GO:0005249), monoatomic cation channel activity (GO:0005261), potassium channel activity (GO:0005267), calcium ion binding (GO:0005509), cytoskeletal protein binding (GO:0008092), outward rectifier potassium channel activity (GO:0015271), voltage-gated monoatomic cation channel activity (GO:0022843), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), actinin binding (GO:0042805), HLH domain binding (GO:0043398), transmembrane transporter binding (GO:0044325), calcium-induced calcium release activity (GO:0048763), ATPase binding (GO:0051117), phosphoprotein binding (GO:0051219), muscle alpha-actinin binding (GO:0051371), transcription regulator inhibitor activity (GO:0140416), monoatomic ion channel activity (GO:0005216), calcium channel activity (GO:0005262), sodium channel activity (GO:0005272), protein binding (GO:0005515), channel activity (GO:0015267), metal ion binding (GO:0046872)

GO Cellular Component (30): polycystin complex (GO:0002133), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), cell-cell junction (GO:0005911), cilium (GO:0005929), basal plasma membrane (GO:0009925), membrane (GO:0016020), basolateral plasma membrane (GO:0016323), lamellipodium (GO:0030027), cytoplasmic vesicle membrane (GO:0030659), motile cilium (GO:0031514), cation channel complex (GO:0034703), ciliary basal body (GO:0036064), basal cortex (GO:0045180), ciliary membrane (GO:0060170), extracellular exosome (GO:0070062), mitotic spindle (GO:0072686), non-motile cilium (GO:0097730), lumenal side of endoplasmic reticulum membrane (GO:0098553), cytoplasmic side of endoplasmic reticulum membrane (GO:0098554), migrasome (GO:0140494), extracellular region (GO:0005576), cytoplasmic vesicle (GO:0031410), vesicle (GO:0031982), monoatomic ion channel complex (GO:0034702), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cargo trafficking to the periciliary membrane	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	5
cellular anatomical structure	3
cytoplasm	3
cilium	3
tube development	2
monoatomic ion channel activity	2
voltage-gated monoatomic cation channel activity	2
monoatomic cation channel activity	2
endomembrane system	2
intracellular membrane-bounded organelle	2
plasma membrane bounded cell projection	2
basal part of cell	2
plasma membrane region	2
branching morphogenesis of an epithelial tube	1
ureteric bud morphogenesis	1
gland development	1
hepaticobiliary system development	1
in utero embryonic development	1
placenta development	1
embryonic organ development	1
embryonic heart tube morphogenesis	1
determination of heart left/right asymmetry	1
determination of left/right symmetry	1
cellular response to endogenous stimulus	1
metal ion transport	1
intracellular monoatomic cation homeostasis	1
calcium ion homeostasis	1
signal transduction	1
cell surface receptor signaling pathway via STAT	1
determination of bilateral symmetry	1
left/right pattern formation	1
animal organ development	1
circulatory system development	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
cell surface receptor signaling pathway	1

Protein interactions and networks

STRING

1320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PKD2	TRPC1	P48995	994
PKD2	PKD1	P98161	993
PKD2	PKHD1	P08F94	984
PKD2	TRPV4	Q9HBA0	974
PKD2	ADCY5	O95622	932
PKD2	PDE4C	Q08493	899
PKD2	PRKCSH	P14314	893
PKD2	KIF3A	Q9Y496	858
PKD2	PACS1	Q6VY07	856
PKD2	PRKD1	Q15139	827
PKD2	IFT88	Q13099	820
PKD2	TRPC5	Q9UL62	801
PKD2	EXOC5	O00471	792
PKD2	PACS2	Q86VP3	789
PKD2	MCOLN1	Q9GZU1	781

IntAct

190 interactions, top by confidence:

A	B	Type	Score
PKD2	PKD2	psi-mi:“MI:0407”(direct interaction)	0.820
PKD2	PKD2	psi-mi:“MI:0915”(physical association)	0.820
EXOC3	EXOC5	psi-mi:“MI:0914”(association)	0.790
LSMEM2	STX7	psi-mi:“MI:0914”(association)	0.740
PKD2	PKD1	psi-mi:“MI:0915”(physical association)	0.720
PKD2	PKD1	psi-mi:“MI:0407”(direct interaction)	0.720
PKD1	PKD2	psi-mi:“MI:0915”(physical association)	0.720
TRPC1	PKD2	psi-mi:“MI:0915”(physical association)	0.690
PKD2	TRPC1	psi-mi:“MI:0915”(physical association)	0.690
PKD2	TRPC1	psi-mi:“MI:0403”(colocalization)	0.690

BioGRID (134): PKD2 (Two-hybrid), PLSCR1 (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), PKD2 (Affinity Capture-MS), PKD2 (Affinity Capture-MS), PKD2 (Affinity Capture-MS), PKD2 (Affinity Capture-MS), PKD2 (Affinity Capture-MS), PKD2 (Affinity Capture-MS), PKD2 (Two-hybrid), PKD2 (Two-hybrid), TRPC1 (Two-hybrid), PKD2 (Affinity Capture-MS)

ESM2 similar proteins: A1A5B4, A2A259, A2AIR5, E9PTA2, F6RG56, H2Q5A1, O35245, O62826, O70212, O94759, P02715, P04758, P09690, P11230, P13536, P23979, P25109, P35563, P37088, Q04671, Q13507, Q13563, Q4GZT3, Q60HE8, Q6IVV8, Q7Z403, Q86V40, Q8BWC0, Q8MIQ9, Q8R4F0, Q8TCT7, Q8TCU5, Q8TDD5, Q91YD4, Q96BD0, Q99J21, Q9EQJ0, Q9GZU1, Q9HA82, Q9JJH7

Diamond homologs: A2A259, H2LRU7, O35245, Q13563, Q4GZT3, Q6IVV8, Q9HCX4, Q9JLG4, Q9NZM6, Q9P0L9, Q9U1S7, Q9WVC5, Q7TN88, Q9JMI9, Q9QZC1, Q13507, A1Z7G7, B3MFV7, B4HS00, C0HK23, C6KFA3, C8YR32, O88917, O88923, O94910, O97817, O97831, P06734, P09917, P51399, Q2EG98, Q2LK54, Q7Z442, Q7Z443, Q80TR1, Q8IVV2, Q8K209, Q8K3V3

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
CSNK2A1	up-regulates	PKD2	phosphorylation
GSK3A	unknown	PKD2	phosphorylation
PRKD1	“up-regulates activity”	PKD2	phosphorylation
PRKD2	“up-regulates activity”	PKD2	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

1319 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	256
Likely pathogenic	85
Uncertain significance	586
Likely benign	234
Benign	40

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1068903	NM_000297.4(PKD2):c.595+2T>C	Pathogenic
1070067	NM_000297.4(PKD2):c.1018G>T (p.Glu340Ter)	Pathogenic
1072849	NM_000297.4(PKD2):c.595+1G>A	Pathogenic
1179073	NM_000297.4(PKD2):c.952dup (p.Val318fs)	Pathogenic
1255533	NM_000297.4(PKD2):c.2584del (p.Ala862fs)	Pathogenic
1255534	NM_000297.4(PKD2):c.710-1G>A	Pathogenic
1255684	NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)	Pathogenic
1255686	NM_000297.4(PKD2):c.1985del (p.Thr662fs)	Pathogenic
1255691	NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)	Pathogenic
1255692	NM_000297.4(PKD2):c.2125del (p.His709fs)	Pathogenic
1255694	NM_000297.4(PKD2):c.605del (p.Gly202fs)	Pathogenic
1256459	NM_000297.4(PKD2):c.1158T>G (p.Tyr386Ter)	Pathogenic
1308641	NM_000297.4(PKD2):c.1979_1982del (p.Tyr660fs)	Pathogenic
13517	NM_000297.4(PKD2):c.1139G>A (p.Trp380Ter)	Pathogenic
13518	NM_000297.4(PKD2):c.2224C>T (p.Arg742Ter)	Pathogenic
13519	NM_000297.4(PKD2):c.1213C>T (p.Gln405Ter)	Pathogenic
13520	NM_000297.4(PKD2):c.693dup (p.Ile232fs)	Pathogenic
13521	NM_000297.4(PKD2):c.1390C>T (p.Arg464Ter)	Pathogenic
13522	NM_000297.4(PKD2):c.2159dup (p.Asn720fs)	Pathogenic
13524	NM_000297.4(PKD2):c.1532A>T (p.Asp511Val)	Pathogenic
13525	NM_000297.4(PKD2):c.1934_1935delinsT (p.Asn645fs)	Pathogenic
1413894	NM_000297.4(PKD2):c.1366C>T (p.Gln456Ter)	Pathogenic
1416552	NM_000297.4(PKD2):c.1205del (p.Thr402fs)	Pathogenic
1460282	NM_000297.4(PKD2):c.1146_1149dup (p.Ala384fs)	Pathogenic
1693454	NM_000297.4(PKD2):c.2358+1G>C	Pathogenic
1699258	NM_000297.4(PKD2):c.1197del (p.Glu400fs)	Pathogenic
1699910	NM_000297.4(PKD2):c.2517del (p.Gln840fs)	Pathogenic
1699918	NM_000297.4(PKD2):c.753del (p.Arg251_Met252insTer)	Pathogenic
1699920	NM_000297.4(PKD2):c.2052C>A (p.Tyr684Ter)	Pathogenic
1705606	NM_000297.4(PKD2):c.2102C>G (p.Ser701Ter)	Pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

6380 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:88074814:T:C	L842P	1.000
4:88074823:G:C	R845P	1.000
4:88074832:G:C	R848P	1.000
4:88074835:T:G	M849R	1.000
4:88074856:T:A	I856K	1.000
4:88007992:T:A	W87R	0.999
4:88007992:T:C	W87R	0.999
4:88056167:T:C	F600L	0.999
4:88056169:T:A	F600L	0.999
4:88056169:T:G	F600L	0.999
4:88065489:T:C	L745P	0.999
4:88065790:G:C	A757P	0.999
4:88068054:T:C	F839L	0.999
4:88068055:T:C	F839S	0.999
4:88068056:T:A	F839L	0.999
4:88068056:T:G	F839L	0.999
4:88074826:T:A	V846E	0.999
4:88074835:T:A	M849K	0.999
4:88074837:G:A	E850K	0.999
4:88074838:A:T	E850V	0.999
4:88074839:G:C	E850D	0.999
4:88074839:G:T	E850D	0.999
4:88074843:T:C	S852P	0.999
4:88074847:T:A	I853N	0.999
4:88074856:T:G	I856R	0.999
4:88074870:G:C	D861H	0.999
4:88074871:A:T	D861V	0.999
4:88074873:G:C	A862P	0.999
4:88074889:T:C	L867P	0.999
4:88007994:G:C	W87C	0.998

dbSNP variants (sampled 300 via entrez): RS1000026083 (4:88036058 C>G), RS1000031744 (4:88028151 ATTTG>A), RS1000043324 (4:88008318 C>T), RS1000053943 (4:88050227 G>C), RS1000057553 (4:88033978 C>G,T), RS1000128775 (4:88035512 G>A), RS1000249869 (4:88022124 T>C), RS1000288658 (4:88005789 G>A), RS1000497350 (4:88069578 A>G), RS1000501222 (4:88038609 G>A), RS1000522792 (4:88069174 T>G), RS1000558824 (4:88074540 A>G), RS1000575317 (4:88069665 C>G,T), RS1000682448 (4:88044799 C>A,T), RS1000700083 (4:88025546 G>A)

Disease associations

OMIM: gene MIM:173910 | disease phenotypes: MIM:613095, MIM:174050, MIM:173900, MIM:611560, MIM:135150

GenCC curated gene-disease

Disease	Classification	Inheritance
autosomal dominant polycystic kidney disease	Definitive	Autosomal dominant
polycystic kidney disease 2	Strong	Autosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
autosomal dominant polycystic kidney disease	Definitive	AD

Mondo (14): autosomal dominant polycystic kidney disease (MONDO:0004691), polycystic kidney disease 2 (MONDO:0013131), kidney failure (MONDO:0001106), autosomal dominant polycystic liver disease (MONDO:0000447), polycystic kidney disease (MONDO:0020642), Joubert syndrome 7 (MONDO:0012694), cystic kidney disease (MONDO:0002473), autosomal recessive polycystic kidney disease (MONDO:0009889), Birt-Hogg-Dube syndrome (MONDO:0800444), hydrocele (MONDO:0004920), polycystic liver disease 1 (MONDO:0008265), multicystic dysplastic kidney (MONDO:0015988), biliary tract disorder (MONDO:0004868), polycystic kidney disease 1 (MONDO:0008263)

Orphanet (7): Autosomal dominant polycystic kidney disease (Orphanet:730), Isolated polycystic liver disease (Orphanet:2924), Joubert syndrome with renal defect (Orphanet:220497), Autosomal recessive polycystic kidney disease (Orphanet:731), (Orphanet:8378), Birt-Hogg-Dubé syndrome (Orphanet:122), Multicystic dysplastic kidney (Orphanet:1851)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0006557	Polycystic liver disease

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001713_23	Dental caries	7.000000e-08
GCST002650_2	Coffee consumption (cups per day)	9.000000e-08
GCST004751_17	Serum uric acid levels in response to allopurinol in gout	2.000000e-07
GCST004751_19	Serum uric acid levels in response to allopurinol in gout	2.000000e-08
GCST004825_2	Hyperuricemia	6.000000e-08
GCST005793_1	Uric acid levels	3.000000e-39
GCST008139_1	Gout	4.000000e-35
GCST008139_2	Gout	7.000000e-17
GCST90011900_97	Serum alkaline phosphatase levels	4.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004330	coffee consumption
EFO:0006782	cups of coffee per day measurement
EFO:0004761	uric acid measurement
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D001660	Biliary Tract Diseases	C06.130
D052177	Kidney Diseases, Cystic	C12.050.351.968.419.403; C12.200.777.419.403; C12.950.419.403
D021782	Multicystic Dysplastic Kidney	C12.050.351.875.558; C12.050.351.968.419.403.750; C12.200.706.629; C12.200.777.419.403.750; C12.800.629; C12.950.419.403.750; C16.131.939.629
D007690	Polycystic Kidney Diseases	C12.050.351.968.419.403.875; C12.200.777.419.403.875; C12.950.419.403.875; C16.131.077.717; C16.320.184.625
D016891	Polycystic Kidney, Autosomal Dominant	C12.050.351.968.419.403.875.500; C12.200.777.419.403.875.500; C12.950.419.403.875.500; C16.131.077.717.500; C16.320.184.625.500
D051437	Renal Insufficiency	C12.050.351.968.419.780; C12.200.777.419.780; C12.950.419.780
C566916	Joubert Syndrome 7 (supp.)
C536326	Polycystic kidney disease, type 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5465 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: vgic — Transient Receptor Potential channels (TRP)

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
Ca2+	Activator	6.0	pEC50

ChEMBL bioactivities

1 potent at pChembl≥5 of 2 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.04	IC50	910	nM	STAUROSPORINE

PubChem BioAssay actives

1 with measured affinity, of 14 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
(2S,3R,4R,6R)-3-methoxy-2-methyl-4-(methylamino)-29-oxa-1,7,17-triazaoctacyclo[12.12.2.12,6.07,28.08,13.015,19.020,27.021,26]nonacosa-8,10,12,14,19,21,23,25,27-nonaen-16-one	2082988: Inhibition of PKD2 (unknown origin) by ADP-Glo Kinase assay	ic50	0.9100	uM

CTD chemical–gene interactions

56 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, decreases expression	3
sodium arsenite	decreases expression, increases abundance	2
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
Acrolein	increases oxidation, increases abundance, affects cotreatment	2
Benzo(a)pyrene	increases methylation, increases expression	2
Calcium	increases abundance, increases reaction, increases transport	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Tetrachlorodibenzodioxin	decreases expression	2
Aflatoxin B1	increases expression, increases methylation	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
salinomycin	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
isepamicin	increases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
doxifluridine	decreases response to substance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
ferrous chloride	decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
S 1 (combination)	decreases response to substance	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Capecitabine	decreases response to substance	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1

ChEMBL screening assays

12 unique, capped per target: 12 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5523029	Binding	Inhibition of PKD2 (unknown origin) by ADP-Glo Kinase assay	Design, Synthesis, and Biological Evaluation of a Novel NIK Inhibitor with Anti-Inflammatory and Hepatoprotective Effects for Sepsis Treatment. — J Med Chem

Cellosaurus cell lines

18 cell lines: 12 induced pluripotent stem cell, 3 cancer cell line, 2 transformed cell line, 1 embryonic stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B5QR	CPGHi006-A	Induced pluripotent stem cell	Female
CVCL_D1YD	Abcam A-549 PKD2 KO	Cancer cell line	Male
CVCL_D2CJ	Abcam HCT 116 PKD2 KO	Cancer cell line	Male
CVCL_D8G6	Ubigene H1 PKD2 KO	Embryonic stem cell	Male
CVCL_E3XI	UAB-HEK293-PKD2 KO#1	Transformed cell line	Female
CVCL_E3XJ	UAB-HEK293-PKD2 KO#2	Transformed cell line	Female
CVCL_E3XP	UAB-iPSC-PKD2 KO#1	Induced pluripotent stem cell	Male
CVCL_E3XR	UAB-iPSC-PKD2+IFT88 DKO#1	Induced pluripotent stem cell	Male
CVCL_E3XS	UAB-iPSC-PKD2 KO#2	Induced pluripotent stem cell	Male
CVCL_E3XU	UAB-iPSC-PKD2 L656W/null	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

113 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT00414440	PHASE4	COMPLETED	Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease
NCT03273413	PHASE4	ACTIVE_NOT_RECRUITING	Statin Therapy in Patients With Early Stage ADPKD
NCT03949894	PHASE4	COMPLETED	Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease
NCT00309283	PHASE3	COMPLETED	Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study
NCT00346918	PHASE3	COMPLETED	Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT00428948	PHASE3	COMPLETED	Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT01022424	PHASE3	COMPLETED	A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002]
NCT01214421	PHASE3	COMPLETED	Tolvaptan Extension Study in Participants With ADPKD
NCT01377246	PHASE3	COMPLETED	Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency
NCT01616927	PHASE3	UNKNOWN	Study of Lanreotide to Treat Polycystic Kidney Disease
NCT01853553	PHASE3	COMPLETED	Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT02115659	PHASE3	UNKNOWN	Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT02134899	PHASE3	COMPLETED	The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients
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NCT02964273	PHASE3	COMPLETED	Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease)
NCT03764605	PHASE3	UNKNOWN	Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease
NCT03918447	PHASE3	TERMINATED	A Trial of Bardoxolone Methyl in Patients With ADPKD - FALCON
NCT04064346	PHASE3	TERMINATED	Efficacy and Safety of Lixivaptan in the Treatment of Autosomal Dominant Polycystic Kidney Disease
NCT04152837	PHASE3	TERMINATED	Safety of Lixivaptan in Subjects Previously Treated With Tolvaptan for Autosomal Dominant Polycystic Kidney Disease
NCT04939935	PHASE3	RECRUITING	Implementation of Metformin theraPy to Ease Decline of Kidney Function in Polycystic Kidney Disease (IMPEDE-PKD)
NCT05373264	PHASE3	RECRUITING	HYDROchlorothiazide to PROTECT Polycystic Kidney Disease Patients and Improve Their Quality of Life
NCT00841568	PHASE2	COMPLETED	A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001]
NCT01210560	PHASE2	COMPLETED	Dose-finding Study of New Tolvaptan Formulation in Subjects With ADPKD
NCT01336972	PHASE2	COMPLETED	Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT01451827	PHASE2	COMPLETED	8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT01670110	PHASE2	COMPLETED	Pasireotide LAR in Severe Polycystic Liver Disease
NCT01932450	PHASE2	UNKNOWN	Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control
NCT02527863	PHASE2	COMPLETED	Effect of the Aquaretic Tolvaptan on Nitric Oxide System
NCT02616055	PHASE2	TERMINATED	Long-Term Treatment and Follow up of Subjects Completing 24 Months of Treatment With Tesevatinib on Study KD019-101
NCT03203642	PHASE2	COMPLETED	Study of the Efficacy and Safety of Tesevatinib in Subjects With ADPKD
NCT03487913	PHASE2	COMPLETED	The ELiSA Study - Evaluation of Lixivaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease
NCT03541447	PHASE2	COMPLETED	Tolvaptan-Octreotide LAR Combination in ADPKD
NCT04284657	PHASE2	COMPLETED	Pravastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease
NCT04578548	PHASE2	TERMINATED	A Study to Evaluate the Effects of GLPG2737 in Participants With Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT05190744	PHASE2	COMPLETED	Probenecid (PB) to Treat Hereditary Nephrogenic Diabetes Insipidus (NDI), ADPKD Treated With Tolvaptan, and Severely Polyuric Patients With Previous Lithium Administration
NCT05870007	PHASE2	ENROLLING_BY_INVITATION	Atorvastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease
NCT06100133	PHASE2	UNKNOWN	Treat Autosomal Dominant Polycystic Kidney Disease With Oral Ketone Ester?
NCT06289998	PHASE2	ACTIVE_NOT_RECRUITING	Study of Tamibarotene in Patients With ADPKD
NCT06435858	PHASE2	RECRUITING	Short-term Effects of an SGLT2 Inhibitor on Divalent Ions in Autosomal Dominant Polycystic Kidney Disease
NCT06800651	PHASE2	RECRUITING	Trial of JMKX003142 in Participants With Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD)