PDPR

Summary

PDPR (pyruvate dehydrogenase phosphatase regulatory subunit, HGNC:30264) is a protein-coding gene on chromosome 16q22.1, encoding Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial (Q8NCN5). Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine.

Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 55066 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 134 total
• MANE Select transcript: NM_017990

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30264
Approved symbol	PDPR
Name	pyruvate dehydrogenase phosphatase regulatory subunit
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	PDP3
Ensembl gene	ENSG00000090857
Ensembl biotype	protein_coding
OMIM	617835
Entrez	55066

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 16 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000288050, ENST00000398122, ENST00000561920, ENST00000562100, ENST00000563930, ENST00000564563, ENST00000565186, ENST00000567046, ENST00000567896, ENST00000568530, ENST00000569042, ENST00000875253, ENST00000875254, ENST00000875255, ENST00000875256, ENST00000875257, ENST00000951256, ENST00000951257, ENST00000951258, ENST00000951259

RefSeq mRNA: 6 — MANE Select: NM_017990 NM_001322117, NM_001322118, NM_001322119, NM_001421699, NM_001421751, NM_017990

CCDS: CCDS45520, CCDS82007

Canonical transcript exons

ENST00000288050 — 19 exons

Exon	Start	End
ENSE00001142258	70131302	70131419
ENSE00001366040	70114821	70114930
ENSE00001373022	70114332	70114440
ENSE00002437952	70128784	70128865
ENSE00002499963	70128959	70129122
ENSE00002612162	70156475	70162537
ENSE00003478189	70142553	70142686
ENSE00003480595	70127260	70127393
ENSE00003575729	70130423	70130544
ENSE00003586851	70148464	70148553
ENSE00003591324	70144421	70144533
ENSE00003601614	70120461	70120719
ENSE00003623817	70132151	70132300
ENSE00003633864	70136194	70136386
ENSE00003643237	70138899	70139023
ENSE00003660389	70153391	70153573
ENSE00003664265	70143510	70143658
ENSE00003664689	70146134	70146228
ENSE00003684070	70142234	70142389

Expression profiles

Bgee: expression breadth ubiquitous, 266 present calls, max score 92.39.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.3706 / max 71.6892, expressed in 1760 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
154867	5.7227	1703
207931	0.9983	639
154866	0.6496	375

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	92.39	gold quality
oocyte	CL:0000023	92.21	gold quality
nipple	UBERON:0002030	91.44	gold quality
parietal pleura	UBERON:0002400	90.45	gold quality
skin of hip	UBERON:0001554	90.01	gold quality
inferior vagus X ganglion	UBERON:0005363	89.44	gold quality
pleura	UBERON:0000977	89.01	gold quality
renal medulla	UBERON:0000362	88.62	gold quality
visceral pleura	UBERON:0002401	88.49	gold quality
tibia	UBERON:0000979	88.33	gold quality
urethra	UBERON:0000057	88.04	gold quality
pylorus	UBERON:0001166	87.60	gold quality
adrenal tissue	UBERON:0018303	87.55	gold quality
upper leg skin	UBERON:0004262	87.53	gold quality
synovial joint	UBERON:0002217	87.49	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.29	gold quality
endothelial cell	CL:0000115	87.18	silver quality
stromal cell of endometrium	CL:0002255	87.10	gold quality
muscle of leg	UBERON:0001383	86.99	gold quality
gastrocnemius	UBERON:0001388	86.93	gold quality
superior surface of tongue	UBERON:0007371	86.88	gold quality
apex of heart	UBERON:0002098	86.75	gold quality
sural nerve	UBERON:0015488	86.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.73	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	86.56	gold quality
cerebellar hemisphere	UBERON:0002245	86.55	gold quality
cerebellar cortex	UBERON:0002129	86.54	gold quality
sperm	CL:0000019	86.44	silver quality
descending thoracic aorta	UBERON:0002345	86.42	gold quality
germinal epithelium of ovary	UBERON:0001304	86.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.31

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

211 targeting PDPR, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-6077	99.99	68.04	2299
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-4725-3P	99.96	69.53	2520

Literature-anchored findings (GeneRIF, showing 1)

• PDPR Gene Variants Predisposing to Papillary Thyroid Cancer. (PMID:38062777)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pdpr	ENSDARG00000103288
mus_musculus	Pdpr	ENSMUSG00000033624
rattus_norvegicus	Pdpr	ENSRNOG00000022593
drosophila_melanogaster	l(2)37Bb	FBGN0002021
drosophila_melanogaster	CG3270	FBGN0033093
caenorhabditis_elegans		WBGENE00010847

Paralogs (10): L2HGDH (ENSG00000087299), YPEL3 (ENSG00000090238), YPEL1 (ENSG00000100027), FOXRED1 (ENSG00000110074), YPEL5 (ENSG00000119801), SARDH (ENSG00000123453), DMGDH (ENSG00000132837), AMT (ENSG00000145020), YPEL4 (ENSG00000166793), YPEL2 (ENSG00000175155)

Protein

Protein identifiers

Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial — Q8NCN5 (reviewed: Q8NCN5)

All UniProt accessions (8): Q8NCN5, A8MT40, B7ZAR9, H3BQG3, H3BRS5, H3BU60, H3BUH3, H3BV59

UniProt curated annotations — full annotation on UniProt →

Function. Decreases the sensitivity of PDP1 to magnesium ions, and this inhibition is reversed by the polyamine spermine.

Subunit / interactions. Heterodimer of a catalytic (PDP1) and a regulatory (PDPR) subunit.

Subcellular location. Mitochondrion matrix.

Similarity. Belongs to the GcvT family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NCN5-1	1	yes
Q8NCN5-2	2

RefSeq proteins (6): NP_001309046, NP_001309047, NP_001309048, NP_001408628, NP_001408680, NP_060460* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001763	Rhodanese-like_dom	Domain
IPR006076	FAD-dep_OxRdtase	Domain
IPR006222	GCVT_N	Domain
IPR013977	GcvT_C	Domain
IPR027266	TrmE/GcvT-like	Homologous_superfamily
IPR028896	GcvT/YgfZ/DmdA	Family
IPR029043	GcvT/YgfZ_C	Homologous_superfamily
IPR032503	FAO_M	Domain
IPR036188	FAD/NAD-bd_sf	Homologous_superfamily

Pfam: PF01266, PF01571, PF08669, PF16350

Enzyme classification (BRENDA):

• EC 3.1.3.43 — [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase (BRENDA: 11 organisms, 19 substrates, 32 inhibitors, 15 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

7 substrates with measured Km, best-characterized 7. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
[PYRUVATE DEHYDROGENASE (LIPOAMIDE)]-PHOSPHATE	0.0029–0.058	7
P-NITROPHENYL PHOSPHATE	29.3–55.1	3
PEPTIDE T-1	0.625	1
PEPTIDE T-2	0.22	1
PEPTIDE T-3	0.106	1
RRAS(P)VA	0.053	1
RRAT(P)VA	0.018	1

UniProt features (17 total): sequence conflict 13, transit peptide 1, chain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8FHU	X-RAY DIFFRACTION	1.8
8FHL	X-RAY DIFFRACTION	2.19

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCN5-F1	90.74	0.84

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-204174	Regulation of pyruvate dehydrogenase (PDH) complex

MSigDB gene sets: 122 (showing top): chr16q22, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_POSITIVE_REGULATION_OF_AMIDE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ACETYL_COA_METABOLIC_PROCESS, GOBP_KETONE_METABOLIC_PROCESS, CHANDRAN_METASTASIS_DN, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, GOBP_REGULATION_OF_FATTY_ACID_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_REGULATION_OF_LIPID_METABOLIC_PROCESS

GO Biological Process (1): positive regulation of pyruvate decarboxylation to acetyl-CoA (GO:0140176)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), pyruvate dehydrogenase (lipoamide) phosphatase complex (GO:0045253)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Regulation of pyruvate metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
pyruvate decarboxylation to acetyl-CoA	1
regulation of pyruvate decarboxylation to acetyl-CoA	1
positive regulation of acetyl-CoA biosynthesis	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1
mitochondrion	1
intracellular organelle lumen	1
protein serine/threonine phosphatase complex	1

Protein interactions and networks

STRING

2461 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PDPR	PDP2	Q9P2J9	633
PDPR	PDHA1	P08559	574
PDPR	PDK3	Q15120	572
PDPR	PDHX	O00330	557
PDPR	PDK2	Q15119	532
PDPR	H6PD	O95479	453
PDPR	PHKG1	Q16816	426
PDPR	CNOT1	A5YKK6	407
PDPR	DLAT	P10515	393
PDPR	MDH1B	Q5I0G3	374
PDPR	IDH3G	P51553	373
PDPR	PDP1	Q9P0J1	370
PDPR	PDHB	P11177	368
PDPR	CS	O75390	360
PDPR	UBFD1	O14562	353
PDPR	GART	P22102	353

IntAct

52 interactions, top by confidence:

A	B	Type	Score
RAD51D	RAD51C	psi-mi:“MI:0914”(association)	0.860
ATP5PB	SLC19A2	psi-mi:“MI:0914”(association)	0.640
NDUFS7	NDUFS8	psi-mi:“MI:0914”(association)	0.640
BPNT1	GTPBP10	psi-mi:“MI:0914”(association)	0.530
PSG8	PEX7	psi-mi:“MI:0914”(association)	0.530
GATC	NME4	psi-mi:“MI:0914”(association)	0.530
TSPYL6	NME4	psi-mi:“MI:0914”(association)	0.530
TSSC4	SNRNP200	psi-mi:“MI:0914”(association)	0.530
PDPR	HSPE1	psi-mi:“MI:0915”(physical association)	0.400
NUDCD1	TUBAL3	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
DKKL1	VWA8	psi-mi:“MI:0914”(association)	0.350
PCMT1	YDJC	psi-mi:“MI:0914”(association)	0.350
ACSM5	NUDT19	psi-mi:“MI:0914”(association)	0.350
NIT1	NUDT19	psi-mi:“MI:0914”(association)	0.350
NDUFS7		psi-mi:“MI:0914”(association)	0.350
TRMT1	HDAC3	psi-mi:“MI:0914”(association)	0.350
TSC22D4	TBL1X	psi-mi:“MI:0914”(association)	0.350
SDHB	CLPX	psi-mi:“MI:0914”(association)	0.350
RARS2	PCCA	psi-mi:“MI:0914”(association)	0.350
ARHGEF26	CPT2	psi-mi:“MI:0914”(association)	0.350
	DENND11	psi-mi:“MI:0914”(association)	0.350
	NUDT19	psi-mi:“MI:0914”(association)	0.350
PDP1	PMPCB	psi-mi:“MI:0914”(association)	0.350
PFDN5	GTPBP10	psi-mi:“MI:0914”(association)	0.350

BioGRID (122): PDPR (Affinity Capture-RNA), PDPR (Affinity Capture-RNA), PDPR (Affinity Capture-RNA), PDPR (Affinity Capture-RNA), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS), PDPR (Affinity Capture-MS)

ESM2 similar proteins: A0JPE9, A2AJL3, A2VD33, O46504, O75191, P12276, P12785, P13439, P17256, P19096, P31754, Q08D86, Q0IH28, Q0VFE7, Q3MIF4, Q3SYZ6, Q3TNA1, Q4V831, Q4V9P6, Q503J2, Q566S6, Q5M7T9, Q5R979, Q5RFE6, Q5U5V2, Q5XH07, Q5XIG6, Q5ZMJ4, Q64FG0, Q68FH4, Q6DCD1, Q6DH69, Q6GMR7, Q6GP95, Q6NUM9, Q6NUW9, Q6ZS86, Q71SP7, Q7TSQ8, Q80SY6

Diamond homologs: B3QLF1, O46504, Q3M859, Q63342, Q64380, Q7TSQ8, Q8GAI3, Q8NCN5, Q99LB7, Q9DBT9, Q9UI17, Q9UL12, A0AIE9, A0RIL1, A4IQV5, A5GPL8, A5I9T7, A5IKL0, A6GXW3, A6TMY6, A7FRV3, A7GB83, A7Z6M4, A8MEG4, A9VH12, B0K242, B0KD95, B1HSN7, B1IEV3, B1KWD5, B2UG80, B7GH71, B7HBA0, B7HNZ1, B7IXL4, B7JMV1, B8DFY0, B8FT33, B8GNE2, B9IXL9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	114
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3027 predictions. Top by Δscore:

Variant	Effect	Δscore
16:70127258:A:AG	acceptor_gain	1.0000
16:70127258:AGGCT:A	acceptor_gain	1.0000
16:70127259:G:GG	acceptor_gain	1.0000
16:70127259:GGCT:G	acceptor_gain	1.0000
16:70127259:GGCTG:G	acceptor_gain	1.0000
16:70127391:CAGG:C	donor_loss	1.0000
16:70127394:G:GG	donor_gain	1.0000
16:70127394:GTA:G	donor_loss	1.0000
16:70127395:T:G	donor_loss	1.0000
16:70128779:TACA:T	acceptor_loss	1.0000
16:70128782:A:AG	acceptor_gain	1.0000
16:70128783:G:GA	acceptor_gain	1.0000
16:70128866:G:GG	donor_gain	1.0000
16:70128870:G:GG	donor_gain	1.0000
16:70130415:T:TA	acceptor_gain	1.0000
16:70130420:CAGGT:C	acceptor_loss	1.0000
16:70130421:A:T	acceptor_loss	1.0000
16:70130422:G:GA	acceptor_loss	1.0000
16:70130422:GGT:G	acceptor_gain	1.0000
16:70130540:GCCAG:G	donor_gain	1.0000
16:70130542:CAG:C	donor_loss	1.0000
16:70130543:AGG:A	donor_loss	1.0000
16:70130544:GGTA:G	donor_loss	1.0000
16:70130545:G:GA	donor_loss	1.0000
16:70130546:T:A	donor_loss	1.0000
16:70132119:A:AG	acceptor_gain	1.0000
16:70132120:C:G	acceptor_gain	1.0000
16:70132126:A:AG	acceptor_gain	1.0000
16:70132127:C:G	acceptor_gain	1.0000
16:70132131:A:AG	acceptor_gain	1.0000

AlphaMissense

5799 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:70139006:G:C	R433P	1.000
16:70146149:G:A	G628D	1.000
16:70153455:G:A	G706E	1.000
16:70142282:G:C	R455T	0.999
16:70142282:G:T	R455M	0.999
16:70142283:G:C	R455S	0.999
16:70142283:G:T	R455S	0.999
16:70142597:T:A	W506R	0.999
16:70142597:T:C	W506R	0.999
16:70142647:T:G	C522W	0.999
16:70142649:T:A	V523D	0.999
16:70142654:G:C	D525H	0.999
16:70142661:C:T	S527F	0.999
16:70143633:A:C	S577R	0.999
16:70143635:C:A	S577R	0.999
16:70143635:C:G	S577R	0.999
16:70146148:G:C	G628R	0.999
16:70146149:G:T	G628V	0.999
16:70148527:G:A	G676R	0.999
16:70148527:G:C	G676R	0.999
16:70148528:G:A	G676E	0.999
16:70153427:G:C	G697R	0.999
16:70153428:G:A	G697D	0.999
16:70153428:G:T	G697V	0.999
16:70153454:G:A	G706R	0.999
16:70153454:G:C	G706R	0.999
16:70153454:G:T	G706W	0.999
16:70153455:G:T	G706V	0.999
16:70156676:T:C	C813R	0.999
16:70156678:C:G	C813W	0.999

dbSNP variants (sampled 300 via entrez): RS1000182830 (16:70152394 C>A,T), RS1000248469 (16:70116553 A>G,T), RS1000298414 (16:70158077 G>A,T), RS1000316774 (16:70162402 G>C,T), RS1000435316 (16:70158272 C>T), RS1000464996 (16:70151520 T>G), RS1000503197 (16:70154291 G>A), RS1000568021 (16:70136903 T>C), RS1000586943 (16:70162180 G>A), RS1000604206 (16:70150257 C>T), RS1000659066 (16:70163780 G>A,C), RS1000678171 (16:70122225 G>T), RS1000734775 (16:70150418 C>A,G,T), RS1000850546 (16:70115470 G>A), RS1000852674 (16:70154142 C>G,T)

Disease associations

OMIM: gene MIM:617835 | disease phenotypes: MIM:213300

GenCC curated gene-disease

Mondo (1): Joubert syndrome (MONDO:0018772)

Orphanet (1): Isolated Joubert syndrome (Orphanet:475)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010703_100	Brain morphology (MOSTest)	2.000000e-40

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	decreases expression, affects cotreatment, increases abundance	2
Cisplatin	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	decreases expression	1
deoxynivalenol	decreases expression	1
arsenite	affects binding, decreases reaction	1
acipimox	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases response to substance, increases expression	1
bisphenol S	affects expression	1
LDN 193189	affects cotreatment, decreases expression	1
bisphenol AF	decreases expression	1
Temozolomide	increases expression	1
Acrolein	decreases expression, increases abundance, affects cotreatment	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, decreases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects cotreatment, decreases expression, increases abundance	1
Gold Compounds	increases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00873678	Not specified	COMPLETED	Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)