GANAB

Summary

GANAB (glucosidase II alpha subunit, HGNC:4138) is a protein-coding gene on chromosome 11q12.3, encoding Neutral alpha-glucosidase AB (Q14697). Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. It is a selective cancer dependency (DepMap: 10.7% of cell lines) and haploinsufficient (ClinGen: sufficient evidence).

This gene encodes the alpha subunit of glucosidase II and a member of the glycosyl hydrolase 31 family of proteins. The heterodimeric enzyme glucosidase II plays a role in protein folding and quality control by cleaving glucose residues from immature glycoproteins in the endoplasmic reticulum. Expression of the encoded protein is elevated in lung tumor tissue and in response to UV irradiation. Mutations in this gene cause autosomal-dominant polycystic kidney and liver disease.

Source: NCBI Gene 23193 — RefSeq curated summary.

At a glance

• Gene–disease (curated): polycystic kidney disease 3 with or without polycystic liver disease (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 9
• Clinical variants (ClinVar): 631 total — 18 pathogenic, 33 likely-pathogenic
• Phenotypes (HPO): 33
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 10.7% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_198334

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4138
Approved symbol	GANAB
Name	glucosidase II alpha subunit
Location	11q12.3
Locus type	gene with protein product
Status	Approved
Aliases	GluII, G2AN, KIAA0088, GIIA, GIIalpha
Ensembl gene	ENSG00000089597
Ensembl biotype	protein_coding
OMIM	104160
Entrez	23193

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 15 protein_coding, 5 retained_intron, 4 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000346178, ENST00000356638, ENST00000524437, ENST00000525994, ENST00000526210, ENST00000526392, ENST00000526732, ENST00000528503, ENST00000529737, ENST00000531563, ENST00000532402, ENST00000534419, ENST00000534422, ENST00000534613, ENST00000534779, ENST00000540933, ENST00000648273, ENST00000881668, ENST00000881669, ENST00000881670, ENST00000933198, ENST00000933199, ENST00000933200, ENST00000933201, ENST00000933202, ENST00000933203

RefSeq mRNA: 9 — MANE Select: NM_198334 NM_001278192, NM_001278193, NM_001278194, NM_001329222, NM_001329223, NM_001329224, NM_001329225, NM_198334, NM_198335

CCDS: CCDS41656, CCDS60817, CCDS60818, CCDS8026

Canonical transcript exons

ENST00000356638 — 24 exons

Exon	Start	End
ENSE00002144669	62624829	62625924
ENSE00002196675	62646562	62646613
ENSE00003465153	62639627	62639731
ENSE00003466387	62631030	62631183
ENSE00003503823	62638983	62639110
ENSE00003506730	62632565	62632745
ENSE00003517037	62633005	62633101
ENSE00003517611	62639359	62639467
ENSE00003518680	62630601	62630836
ENSE00003518861	62630379	62630505
ENSE00003528430	62629194	62629295
ENSE00003528527	62633445	62633514
ENSE00003531263	62629588	62629684
ENSE00003547996	62628769	62629012
ENSE00003550204	62627289	62627353
ENSE00003551537	62626065	62626165
ENSE00003572313	62634821	62635000
ENSE00003584827	62626571	62626684
ENSE00003587074	62627048	62627124
ENSE00003595131	62633184	62633271
ENSE00003623493	62626860	62626934
ENSE00003667192	62629814	62629957
ENSE00003682476	62630197	62630276
ENSE00003692690	62626335	62626447

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.35.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 150.3251 / max 1408.6541, expressed in 1825 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120180	150.0046	1825
120177	0.3206	141

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	99.35	gold quality
islet of Langerhans	UBERON:0000006	98.88	gold quality
ventricular zone	UBERON:0003053	98.69	gold quality
right ovary	UBERON:0002118	98.66	gold quality
left ovary	UBERON:0002119	98.56	gold quality
right lobe of thyroid gland	UBERON:0001119	98.54	gold quality
body of pancreas	UBERON:0001150	98.49	gold quality
endocervix	UBERON:0000458	98.44	gold quality
smooth muscle tissue	UBERON:0001135	98.43	gold quality
body of uterus	UBERON:0009853	98.40	gold quality
left lobe of thyroid gland	UBERON:0001120	98.37	gold quality
right uterine tube	UBERON:0001302	98.29	gold quality
rectum	UBERON:0001052	98.25	gold quality
left uterine tube	UBERON:0001303	98.25	gold quality
ectocervix	UBERON:0012249	98.17	gold quality
body of stomach	UBERON:0001161	98.13	gold quality
small intestine Peyer’s patch	UBERON:0003454	98.11	gold quality
right coronary artery	UBERON:0001625	98.05	gold quality
thyroid gland	UBERON:0002046	98.05	gold quality
upper lobe of left lung	UBERON:0008952	98.05	gold quality
granulocyte	CL:0000094	98.02	gold quality
minor salivary gland	UBERON:0001830	97.98	gold quality
gall bladder	UBERON:0002110	97.98	gold quality
transverse colon	UBERON:0001157	97.95	gold quality
tibial nerve	UBERON:0001323	97.94	gold quality
upper lobe of lung	UBERON:0008948	97.93	gold quality
descending thoracic aorta	UBERON:0002345	97.92	gold quality
pituitary gland	UBERON:0000007	97.91	gold quality
stomach	UBERON:0000945	97.89	gold quality
adenohypophysis	UBERON:0002196	97.89	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7249	no	67.87
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

83 targeting GANAB, 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-4481	100.00	66.42	1669
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-298	99.63	67.56	1916
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-6727-3P	99.49	65.92	1333

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 10.7% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 18)

• the apparent occurrence of an unusual TG 3’ splice site in intron 18 is discussed (PMID:17672918)
• PKD3 contributes to growth and survival of prostate cancer cells (PMID:18483269)
• reveal a novel distinction between the exocrine and endocrine cells of the pancreas and further identify PKD3 as a signaling molecule that promotes hormone-stimulated amylase secretion (PMID:19028687)
• In males being treated for infertility, neutral alpha-glucosidase activity correlated with the percentage of sperm DNA fragmentation. (PMID:19737279)
• Loss of the tumor suppression function of Hsp60 or GANAB contribute to aggressive cancers. (PMID:21642380)
• these data suggest that PKD2 and PKD3 coordinate to promote prostate cancer cell invasion through p65 NF-kappaB- and HDAC1-mediated expression and activation of uPA. (PMID:22797919)
• The high frequency of glucosidase II overexpression, which to the best of our knowledge has not been previously described, indicates its crucial roles in lung tumorigenesis and is thus a valuable biomarker (PMID:24008518)
• Data show that similar to a knockdown of serine/threonine kinase protein kinase D3 (PKD3), treatment with this inhibitor targets all tumorigenic processes in vitro and decreases growth of primary tumors and metastasis in vivo (PMID:25852060)
• Mutations in GANAB gene is associated with Autosomal-Dominant Polycystic Kidney and Liver Disease. (PMID:27259053)
• used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common polycystic liver disease genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B. Similarly to PRKCSH and SEC63, these genes encode proteins that are integral to the protein biogenesis pathway in the endoplasmic reticulum. (PMID:28375157)
• Case Report: GANAB mutation leading to autosomal dominant polycystic kidney disease. (PMID:28784653)
• a novel intronic nine base pair deletion in the vicinity of the GANAB exon 24 splice donor, is reported. (PMID:29243290)
• Our data indicate that PKD3 functions downstream of PKCiota to affect the cytokine-mediated induction of MMP1 and MMP13 in human chondrocytes. (PMID:29652915)
• Novel GANAB variants associated with polycystic liver disease. (PMID:33097077)
• PKD3 promotes metastasis and growth of oral squamous cell carcinoma through positive feedback regulation with PD-L1 and activation of ERK-STAT1/3-EMT signalling. (PMID:33692335)
• Protein Kinase D3 Promotes the Reconstruction of OSCC Immune Escape Niche Via Regulating MHC-I and Immune Inhibit Molecules Expression. (PMID:34545012)
• Glycoprotein alpha-Subunit of Glucosidase II (GIIalpha) is a novel prognostic biomarker correlated with unfavorable outcome of urothelial carcinoma. (PMID:35879690)
• ERVW-1 Activates ATF6-Mediated Unfolded Protein Response by Decreasing GANAB in Recent-Onset Schizophrenia. (PMID:37376599)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ganabb	ENSDARG00000076811
danio_rerio	ganaba	ENSDARG00000076888
mus_musculus	Ganab	ENSMUSG00000071650
rattus_norvegicus	Ganab	ENSRNOG00000019724
caenorhabditis_elegans		WBGENE00019895

Paralogs (6): SI (ENSG00000090402), MYORG (ENSG00000164976), GAA (ENSG00000171298), GANC (ENSG00000214013), MGAM (ENSG00000257335), MGAM2 (ENSG00000257743)

Protein

Protein identifiers

Neutral alpha-glucosidase AB — Q14697 (reviewed: Q14697)

Alternative names: Alpha-glucosidase 2, Glucosidase II subunit alpha

All UniProt accessions (6): Q14697, E9PKU7, E9PNH1, E9PQ69, F5H6X6, V9HWJ0

UniProt curated annotations — full annotation on UniProt →

Function. Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins. Required for PKD1/Polycystin-1 and PKD2/Polycystin-2 maturation and localization to the cell surface and cilia.

Subunit / interactions. Heterodimer of a catalytic alpha subunit (GANAB) and a beta subunit (PRKCSH). Binds glycosylated PTPRC.

Subcellular location. Endoplasmic reticulum. Golgi apparatus. Melanosome.

Tissue specificity. Detected in placenta. Isoform 1 and isoform 2 are expressed in the kidney and liver.

Disease relevance. Polycystic kidney disease 3 with or without polycystic liver disease (PKD3) [MIM:600666] A form of polycystic kidney disease, a disorder characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occur in other organs, particularly the liver. PKD3 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. GANAB variations may act as a disease modifier in autosomal dominant polycystic liver disease in patients who have causative mutations in other genes, such as PKHD1 or ALG8.

Activity regulation. Inhibited by deoxynojirimycin.

Pathway. Glycan metabolism; N-glycan metabolism.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the glycosyl hydrolase 31 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q14697-1	1	yes
Q14697-2	2
Q14697-3	3

RefSeq proteins (9): NP_001265121, NP_001265122, NP_001265123, NP_001316151, NP_001316152, NP_001316153, NP_001316154, NP_938148, NP_938149 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000322	Glyco_hydro_31_TIM	Domain
IPR011013	Gal_mutarotase_sf_dom	Homologous_superfamily
IPR013780	Glyco_hydro_b	Homologous_superfamily
IPR017853	GH_hydrolase_sf	Homologous_superfamily
IPR025887	Glyco_hydro_31_N_dom	Domain
IPR030458	Glyco_hydro_31_AS	Active_site
IPR030459	Glyco_hydro_31_CS	Conserved_site
IPR048395	Glyco_hydro_31_C	Domain

Pfam: PF01055, PF13802, PF21365

Enzyme classification (BRENDA):

• EC 3.2.1.207 — mannosyl-oligosaccharide alpha-1,3-glucosidase (BRENDA: 26 organisms, 73 substrates, 66 inhibitors, 27 Km, 5 kcat entries)

Substrate kinetics (BRENDA)

14 substrates with measured Km, best-characterized 14. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
MALTOSE	0.43–57.7	4
P-NITROPHENYL ALPHA-D-GLUCOPYRANOSIDE	0.78–481	4
4-NITROPHENYL ALPHA-D-GLUCOPYRANOSIDE	2.2–2.82	3
P-NITROPHENYL-ALPHA-D-GLUCOPYRANOSIDE	0.5–0.92	3
4-METHYLUMBELLIFERYL ALPHA-D-GLUCOPYRANOSIDE	0.013–0.019	2
4-METHYLUMBELLIFERYL-ALPHA-D-GLUCOPYRANOSIDE	0.0003	1
4-METHYLUMBELLIFERYL-ALPHA-D-GLUCOSIDE	0.0552	1
4-METHYLUMBELLYFERYL ALPHA-D-GLUCOPYRANOSIDE	0.055	1
MALTOHEXAOSE	15.3	1
MALTOTRIOSE	26.7	1
N-[[2-CARBOXY-5-(4-METHOXYPHENYL)THIOPHEN-3-YL]C	0.49	1
NIGEROSE	2.13	1
P-NITROPHENYL-2-DEOXY-ALPHA-D-GLUCOPYRANOSIDE	0.76	1
SUCROSE	15.3	1

Catalyzed reactions (Rhea), 2 shown:

• N(4)-(alpha-D-Glc-(1->3)-alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] + H2O = N(4)-(alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] + beta-D-glucose (RHEA:55996)
• N(4)-(alpha-D-Glc-(1->3)-alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] + H2O = N(4)-(alpha-D-Man-(1->2)-alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->3)-[alpha-D-Man-(1->2)-alpha-D-Man-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc)-L-asparaginyl-[protein] (N-glucan mannose isomer 9A1,2,3B1,2,3) + beta-D-glucose (RHEA:56000)

UniProt features (125 total): strand 54, helix 23, sequence variant 15, turn 13, binding site 4, splice variant 3, disulfide bond 2, sequence conflict 2, active site 2, signal peptide 1, chain 1, modified residue 1, glycosylation site 1, region of interest 1, compositionally biased region 1, mutagenesis site 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8D43	ELECTRON MICROSCOPY	2.88
8EMR	ELECTRON MICROSCOPY	2.92

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14697-F1	93.43	0.90

Functional residue map

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

Catalytic / active sites (2): 542 (nucleophile); 618 (proton donor)

Ligand- & substrate-binding residues (4): 283; 429; 602; 676

Post-translational modifications (1): 52

Disulfide bonds (2): 41–47, 633–644

Glycosylation sites (1): 97

Mutagenesis-validated functional residues (1):

Position	Phenotype
542	loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-532668	N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-901042	Calnexin/calreticulin cycle
R-HSA-9683686	Maturation of spike protein
R-HSA-9694548	Maturation of spike protein
R-HSA-9768727	Regulation of CDH1 posttranslational processing and trafficking to plasma membrane

MSigDB gene sets: 266 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GGGACCA_MIR133A_MIR133B, GOBP_N_GLYCAN_PROCESSING, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, CGGAARNGGCNG_UNKNOWN, MORF_UBE2I, KEGG_N_GLYCAN_BIOSYNTHESIS, MORF_HDAC1, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, TCGATGG_MIR213, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, WANG_LMO4_TARGETS_DN, MORF_CTBP1, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS

GO Biological Process (2): carbohydrate metabolic process (GO:0005975), N-glycan processing (GO:0006491)

GO Molecular Function (10): RNA binding (GO:0003723), carbohydrate binding (GO:0030246), glucan 1,3-alpha-glucosidase activity (GO:0033919), alpha-glucosidase activity (GO:0090599), Glc2Man9GlcNAc2 oligosaccharide glucosidase activity (GO:0106407), catalytic activity (GO:0003824), hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on glycosyl bonds (GO:0016798)

GO Cellular Component (8): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), Golgi apparatus (GO:0005794), membrane (GO:0016020), glucosidase II complex (GO:0017177), melanosome (GO:0042470), intracellular membrane-bounded organelle (GO:0043231), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Asparagine N-linked glycosylation	1
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	1
Translation of Structural Proteins	1
Regulation of CDH1 Expression and Function	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
alpha-glucosidase activity	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
primary metabolic process	1
protein N-linked glycosylation	1
glycoprotein biosynthetic process	1
nucleic acid binding	1
glucosidase activity	1
molecular_function	1
hydrolase activity, acting on glycosyl bonds	1
catalytic activity	1
hydrolase activity	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cellular anatomical structure	1
endoplasmic reticulum protein-containing complex	1
glucosidase complex	1
pigment granule	1
intracellular anatomical structure	1
membrane-bounded organelle	1
intracellular organelle	1
extracellular vesicle	1

Protein interactions and networks

STRING

3104 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GANAB	MOGS	Q13724	968
GANAB	PRKCSH	P14314	934
GANAB	ALG8	Q9BVK2	805
GANAB	DNAJB11	Q9UBS4	768
GANAB	HYOU1	Q9Y4L1	755
GANAB	HSPA5	P11021	712
GANAB	PDIA3	P30101	700
GANAB	UGGT1	Q9NYU2	690
GANAB	SEC63	Q9UGP8	651
GANAB	SEC61B	P38390	649
GANAB	HSP90B1	P14625	649
GANAB	CALR	P27797	635
GANAB	PLA2G2A	P14555	621
GANAB	PKD1	P98161	613
GANAB	PLA2G2D	Q9UNK4	610

IntAct

196 interactions, top by confidence:

A	B	Type	Score
HSPA8	GAK	psi-mi:“MI:0914”(association)	0.760
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
CRIPTO	AIP	psi-mi:“MI:0914”(association)	0.640
CFTR	HAX1	psi-mi:“MI:0914”(association)	0.610
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
ADAMTS4	MANBA	psi-mi:“MI:0914”(association)	0.530
NPTN	TNPO2	psi-mi:“MI:0914”(association)	0.530
COL1A1	GOLIM4	psi-mi:“MI:0914”(association)	0.500
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
sseJ	AGPS	psi-mi:“MI:0914”(association)	0.460
env	PSMD11	psi-mi:“MI:0914”(association)	0.460
env	APP	psi-mi:“MI:0914”(association)	0.460
env	PGRMC1	psi-mi:“MI:0914”(association)	0.460
Zwint	NDC80	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (517): GANAB (Affinity Capture-MS), GANAB (Affinity Capture-MS), GANAB (Affinity Capture-MS), GANAB (Affinity Capture-MS), MOGS (Co-fractionation), MRPL9 (Co-fractionation), UQCRC2 (Co-fractionation), GANAB (Affinity Capture-MS), GANAB (Proximity Label-MS), GANAB (Proximity Label-MS), GANAB (Proximity Label-MS), GANAB (Proximity Label-MS), GANAB (Affinity Capture-MS), GANAB (Affinity Capture-MS), GANAB (Affinity Capture-MS)

ESM2 similar proteins: A0JNU3, A6QNR0, O18835, O35632, O77695, O88202, O97524, P04066, P06760, P06865, P07686, P08236, P10253, P12265, P16444, P17164, P22412, P29416, P31429, P31430, P43477, P48300, P54802, P70699, P79403, Q0V8R6, Q12891, Q14697, Q3SZM7, Q3U4H6, Q4FAT7, Q4QR99, Q4R4N7, Q5R5N6, Q5R7A9, Q5RC84, Q5RFI5, Q60HF8, Q641X3, Q6AYS4

Diamond homologs: B9F676, D0KQM8, F4J6T7, O04893, O04931, O43451, P07768, P0CD66, P10253, P14410, P23739, P38138, P70699, P79403, Q12558, Q14697, Q43763, Q4R4N7, Q5R7A9, Q653V7, Q6P7A9, Q8BHN3, Q8BVW0, Q8TET4, Q92442, Q94502, Q9BE70, Q9F234, Q9FN05, Q9MYM4, Q9US55, Q09901, Q9P999, A1CNK4, A1D1E6, B0XNL6, B8MZ41, D4B0X3, O00906, O62653

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	18
Likely pathogenic	33
Uncertain significance	294
Likely benign	170
Benign	32

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1711179	NM_198334.3(GANAB):c.2516C>T (p.Thr839Ile)	Pathogenic
2050292	NM_198334.3(GANAB):c.499_500del (p.Leu167fs)	Pathogenic
253129	NM_198334.3(GANAB):c.1848_1849del (p.Asp618fs)	Pathogenic
253130	NM_198334.3(GANAB):c.1148C>G (p.Thr383Arg)	Pathogenic
253131	NM_198334.3(GANAB):c.2624+2_2624+7del	Pathogenic
2691267	NM_198334.3(GANAB):c.1936+1del	Pathogenic
2700204	NM_198334.3(GANAB):c.2280_2281del (p.Gly761fs)	Pathogenic
2783444	NM_198334.3(GANAB):c.755del (p.Gly252fs)	Pathogenic
3236796	NM_198334.3(GANAB):c.1310_1320del (p.Arg437fs)	Pathogenic
3254987	NM_198334.3(GANAB):c.1495G>T (p.Glu499Ter)	Pathogenic
492969	NM_198334.3(GANAB):c.2725+4_2725+12del	Pathogenic
590347	NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del)	Pathogenic
590348	NM_198334.3(GANAB):c.621del (p.Asp207fs)	Pathogenic
590349	NM_198334.3(GANAB):c.1769G>C (p.Arg590Pro)	Pathogenic
590350	NM_198334.3(GANAB):c.1936+1G>C	Pathogenic
590352	NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter)	Pathogenic
620175	NM_198334.3(GANAB):c.181C>T (p.Arg61Ter)	Pathogenic
810838	NC_000011.10:g.62628412_62655064del	Pathogenic
1691315	NM_198334.3(GANAB):c.560+444A>C	Likely pathogenic
1803160	NM_198334.3(GANAB):c.1429T>C (p.Tyr477His)	Likely pathogenic
2505230	NM_198334.3(GANAB):c.517C>T (p.Arg173Ter)	Likely pathogenic
253132	NM_198334.3(GANAB):c.2449C>T (p.Arg817Trp)	Likely pathogenic
2572928	NM_198334.3(GANAB):c.2110C>T (p.Arg704Ter)	Likely pathogenic
2575050	NM_198334.3(GANAB):c.677G>A (p.Trp226Ter)	Likely pathogenic
2575052	NM_198334.3(GANAB):c.644_645del (p.Gln215fs)	Likely pathogenic
3057233	NM_198334.3(GANAB):c.1502G>A (p.Trp501Ter)	Likely pathogenic
3068388	NM_198334.3(GANAB):c.12_38+2del	Likely pathogenic
3236803	NM_198334.3(GANAB):c.174_175del (p.Pro59fs)	Likely pathogenic
3256692	NM_198334.3(GANAB):c.842dup (p.Asn281fs)	Likely pathogenic
3599837	NM_198334.3(GANAB):c.2496_2502del (p.Ser835fs)	Likely pathogenic

SpliceAI

3336 predictions. Top by Δscore:

Variant	Effect	Δscore
11:62625922:ATCC:A	acceptor_loss	1.0000
11:62625923:TC:T	acceptor_gain	1.0000
11:62625924:CC:C	acceptor_gain	1.0000
11:62625925:C:CC	acceptor_gain	1.0000
11:62626061:TCAC:T	donor_loss	1.0000
11:62626062:CACC:C	donor_loss	1.0000
11:62626063:A:AC	donor_gain	1.0000
11:62626063:AC:A	donor_gain	1.0000
11:62626063:ACCT:A	donor_loss	1.0000
11:62626064:C:CA	donor_loss	1.0000
11:62626064:C:CC	donor_gain	1.0000
11:62626064:CC:C	donor_gain	1.0000
11:62626064:CCT:C	donor_gain	1.0000
11:62626064:CCTT:C	donor_gain	1.0000
11:62626161:CTGAG:C	acceptor_gain	1.0000
11:62626162:TGAG:T	acceptor_gain	1.0000
11:62626163:GAG:G	acceptor_gain	1.0000
11:62626164:AG:A	acceptor_gain	1.0000
11:62626166:C:CC	acceptor_gain	1.0000
11:62626172:A:AC	acceptor_gain	1.0000
11:62626172:A:C	acceptor_gain	1.0000
11:62626175:G:C	acceptor_gain	1.0000
11:62626175:G:GC	acceptor_gain	1.0000
11:62626182:C:CT	acceptor_gain	1.0000
11:62626190:C:CT	acceptor_gain	1.0000
11:62626193:C:CT	acceptor_gain	1.0000
11:62626194:A:T	acceptor_gain	1.0000
11:62626329:CATTA:C	donor_loss	1.0000
11:62626331:TTA:T	donor_loss	1.0000
11:62626332:TA:T	donor_loss	1.0000

AlphaMissense

6149 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:62628996:G:C	F651L	1.000
11:62628996:G:T	F651L	1.000
11:62628998:A:G	F651L	1.000
11:62629277:T:A	D618V	1.000
11:62629277:T:G	D618A	1.000
11:62629287:A:G	W615R	1.000
11:62629287:A:T	W615R	1.000
11:62628923:G:C	H676D	0.999
11:62629277:T:C	D618G	0.999
11:62629278:C:G	D618H	0.999
11:62629285:C:A	W615C	0.999
11:62629285:C:G	W615C	0.999
11:62629617:C:A	R602M	0.999
11:62629904:G:C	F549L	0.999
11:62629904:G:T	F549L	0.999
11:62629906:A:G	F549L	0.999
11:62629926:T:A	D542V	0.999
11:62629933:A:G	W540R	0.999
11:62629933:A:T	W540R	0.999
11:62630383:C:A	W503C	0.999
11:62630383:C:G	W503C	0.999
11:62630385:A:G	W503R	0.999
11:62630385:A:T	W503R	0.999
11:62630701:T:A	D429V	0.999
11:62630786:A:G	W401R	0.999
11:62630786:A:T	W401R	0.999
11:62631117:A:G	W355R	0.999
11:62631117:A:T	W355R	0.999
11:62632713:T:A	D283V	0.999
11:62628997:A:G	F651S	0.998

dbSNP variants (sampled 300 via entrez): RS1000012695 (11:62635200 T>A), RS1000088195 (11:62642367 T>G), RS1000153104 (11:62627631 C>T), RS1000221761 (11:62637981 T>C), RS1000344692 (11:62632182 C>T), RS1000686133 (11:62643445 C>A,G), RS1000728814 (11:62643651 T>C), RS1000777541 (11:62631877 C>A), RS1000918508 (11:62643916 C>G), RS1000928320 (11:62633629 G>A,T), RS1000972057 (11:62643639 C>T), RS1001063199 (11:62638630 G>A), RS1001191042 (11:62637850 C>G), RS1001353340 (11:62626813 G>C,T), RS1001548701 (11:62632265 C>T)

Disease associations

OMIM: gene MIM:104160 | disease phenotypes: MIM:600666, MIM:174050, MIM:620369

GenCC curated gene-disease

Disease	Classification	Inheritance
polycystic kidney disease 3 with or without polycystic liver disease	Definitive	Autosomal dominant
autosomal dominant polycystic kidney disease	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
polycystic kidney disease 3 with or without polycystic liver disease	Definitive	AD

Mondo (7): polycystic kidney disease 3 with or without polycystic liver disease (MONDO:0010916), autosomal dominant polycystic liver disease (MONDO:0000447), cystic kidney disease (MONDO:0002473), biliary tract disorder (MONDO:0004868), congenital myopathy 22B, severe fetal (MONDO:0957265), autosomal dominant polycystic kidney disease (MONDO:0004691), chronic kidney disease (MONDO:0005300)

Orphanet (2): Isolated polycystic liver disease (Orphanet:2924), Autosomal dominant polycystic kidney disease (Orphanet:730)

HPO phenotypes

33 total (30 of 33 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000010	Recurrent urinary tract infections
HP:0000083	Renal insufficiency
HP:0000105	Enlarged kidney
HP:0000107	Renal cyst
HP:0000113	Polycystic kidney dysplasia
HP:0000790	Hematuria
HP:0000791	Uric acid nephrolithiasis
HP:0000822	Hypertension
HP:0001407	Hepatic cysts
HP:0001410	Decreased liver function
HP:0001634	Mitral valve prolapse
HP:0001737	Pancreatic cysts
HP:0002616	Aortic root aneurysm
HP:0003259	Elevated circulating creatinine concentration
HP:0003584	Late onset
HP:0003596	Middle age onset
HP:0003621	Juvenile onset
HP:0003774	Stage 5 chronic kidney disease
HP:0004944	Dilatation of the cerebral artery
HP:0006557	Polycystic liver disease
HP:0008672	Calcium oxalate nephrolithiasis
HP:0011004	Abnormal systemic arterial morphology
HP:0011462	Young adult onset
HP:0011760	Pituitary growth hormone cell adenoma
HP:0012207	Reduced sperm motility
HP:0012213	Decreased glomerular filtration rate
HP:0012330	Pyelonephritis
HP:0012591	Abnormal urinary electrolyte concentration
HP:0012592	Albuminuria

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST005956_12	Waist-to-hip ratio adjusted for BMI	2.000000e-06
GCST005956_2	Waist-to-hip ratio adjusted for BMI	1.000000e-08
GCST005962_37	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	5.000000e-07
GCST005962_51	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-07
GCST90020024_382	A body shape index	2.000000e-11
GCST90020025_947	Waist-to-hip ratio adjusted for BMI	1.000000e-16
GCST90020026_778	Hip index	5.000000e-08
GCST90020027_1466	Waist-hip index	4.000000e-17
GCST90020029_314	Waist circumference adjusted for body mass index	2.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (4)

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
D007676	Kidney Failure, Chronic	C12.050.351.968.419.780.750.500; C12.200.777.419.780.750.500; C12.950.419.780.750.500; C23.550.291.500.906.500
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

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2519 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 4,739 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL307429	DUVOGLUSTAT	2	4,739

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

ChEMBL bioactivities

10 potent at pChembl≥5 of 21 total, top 10 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.85	Ki	14	nM	DUVOGLUSTAT
7.82	Ki	15	nM	CHEMBL421040
7.39	Kd	40.23	nM	CHEMBL5653589
7.39	ED50	40.23	nM	CHEMBL5653589
6.80	Ki	160	nM	DUVOGLUSTAT
5.89	IC50	1300	nM	DUVOGLUSTAT
5.52	Ki	3000	nM	CHEMBL108656
5.39	Kd	4094	nM	CHEMBL3752910
5.39	ED50	4094	nM	CHEMBL3752910
5.10	Ki	8000	nM	CHEMBL111326

PubChem BioAssay actives

3 with measured affinity, of 70 total; 3 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
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148412: Binding affinity to human GANAB incubated for 45 mins by Kinobead based pull down assay	kd	0.0402	uM
(2R,3R,4R,5S)-2-(hydroxymethyl)piperidine-3,4,5-triol	37439: Tested for competitive inhibition of endoplasmic reticulum alpha-glucosidase II.	ic50	1.3000	uM
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148412: Binding affinity to human GANAB incubated for 45 mins by Kinobead based pull down assay	kd	4.0937	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, increases expression	2
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	2
Acrolein	affects cotreatment, increases oxidation, increases abundance	2
Benzo(a)pyrene	affects methylation	2
Ozone	affects cotreatment, increases oxidation, increases abundance	2
Valproic Acid	affects cotreatment, increases expression, decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
bisphenol F	increases expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
deoxynivalenol	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression	1
tetrahydropalmatine	decreases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
benzo(e)pyrene	increases methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	increases methylation	1
epigallocatechin gallate	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Bortezomib	decreases expression	1
Arsenic Trioxide	increases expression	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Atrazine	increases expression	1

ChEMBL screening assays

38 unique, capped per target: 32 binding, 6 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1685139	Binding	Inhibition of endoplasmic reticulum alpha-glucosidase 2 in human HL-60 cells assessed as free oligosaccharide level at 50 uM after 24 hrs	Synthesis of N-alkylated noeurostegines and evaluation of their potential as treatment for Gaucher’s disease. — Bioorg Med Chem Lett
CHEMBL818494	Functional	Competitive Inhibition constant on rice alpha Mannosidase; MI=Moderate Inhibition	Synthesis and biological activity of C-6 modified derivatives of the glucosidase inhibitor 1-deoxynojirimycin. — Bioorg Med Chem Lett

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D1MQ	Abcam K-562 GANAB KO	Cancer cell line	Female
CVCL_D2JA	Abcam Raji GANAB KO	Cancer cell line	Male
CVCL_SP54	HAP1 GANAB (-) 1	Cancer cell line	Male
CVCL_SP55	HAP1 GANAB (-) 2	Cancer cell line	Male
CVCL_UQ57	Abcam Jurkat GANAB KO	Cancer cell line	Male

Clinical trials (associated diseases)

135 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
NCT02160145	PHASE3	COMPLETED	Efficacy and Safety of Tolvaptan in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease
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
NCT04705051	PHASE3	TERMINATED	Long-term Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD) With Venglustat
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