PUS10

Summary

PUS10 (pseudouridine synthase 10, HGNC:26505) is a protein-coding gene on chromosome 2p16.1-p15, encoding tRNA pseudouridine synthase Pus10 (Q3MIT2). Protein with different functions depending on its subcellular location: involved in miRNA processing in the nucleus and acts as a tRNA pseudouridylate synthase in the cytoplasm.

Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).

Source: NCBI Gene 150962 — RefSeq curated summary.

At a glance

• GWAS associations: 15
• Clinical variants (ClinVar): 94 total — 2 pathogenic
• MANE Select transcript: NM_144709

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26505
Approved symbol	PUS10
Name	pseudouridine synthase 10
Location	2p16.1-p15
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32312
Ensembl gene	ENSG00000162927
Ensembl biotype	protein_coding
OMIM	612787
Entrez	150962

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 22 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000316752, ENST00000398658, ENST00000407787, ENST00000421319, ENST00000430495, ENST00000602599, ENST00000718444, ENST00000902119, ENST00000902120, ENST00000902121, ENST00000902122, ENST00000902123, ENST00000902124, ENST00000902125, ENST00000902126, ENST00000902127, ENST00000902128, ENST00000902129, ENST00000971231, ENST00000971232, ENST00000971233, ENST00000971234, ENST00000971235, ENST00000971236, ENST00000971237

RefSeq mRNA: 4 — MANE Select: NM_144709 NM_001322123, NM_001322124, NM_001322127, NM_144709

CCDS: CCDS1865

Canonical transcript exons

ENST00000316752 — 18 exons

Exon	Start	End
ENSE00001069909	60967502	60967613
ENSE00001069919	60965423	60965484
ENSE00001275765	60940223	60942433
ENSE00001275771	60965058	60965103
ENSE00001762293	61018008	61018255
ENSE00003474710	60960392	60960517
ENSE00003483025	60961463	60961548
ENSE00003488072	60953933	60953988
ENSE00003501503	60962826	60962890
ENSE00003511488	61011765	61011905
ENSE00003553985	60955018	60955074
ENSE00003588210	60948043	60948185
ENSE00003592083	60945009	60945108
ENSE00003634614	60971523	60971557
ENSE00003652293	61008761	61009015
ENSE00003674879	61006557	61006643
ENSE00003683591	60952997	60953114
ENSE00003688868	60954082	60954158

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 87.19.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.3053 / max 88.6392, expressed in 1510 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
28630	0.8931	564
28629	0.7667	460
28634	0.7514	428
28631	0.6664	387
28632	0.1244	44
28633	0.1031	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
jejunal mucosa	UBERON:0000399	87.19	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.98	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.86	gold quality
right lobe of liver	UBERON:0001114	81.86	gold quality
ileal mucosa	UBERON:0000331	81.40	gold quality
duodenum	UBERON:0002114	81.18	gold quality
monocyte	CL:0000576	80.00	gold quality
leukocyte	CL:0000738	79.81	gold quality
liver	UBERON:0002107	78.62	gold quality
calcaneal tendon	UBERON:0003701	77.38	gold quality
left lobe of thyroid gland	UBERON:0001120	77.28	gold quality
thyroid gland	UBERON:0002046	76.88	gold quality
right adrenal gland cortex	UBERON:0035827	76.56	gold quality
right adrenal gland	UBERON:0001233	76.26	gold quality
buccal mucosa cell	CL:0002336	76.22	silver quality
body of pancreas	UBERON:0001150	76.22	gold quality
right lobe of thyroid gland	UBERON:0001119	76.20	gold quality
rectum	UBERON:0001052	76.18	gold quality
left adrenal gland	UBERON:0001234	75.97	gold quality
islet of Langerhans	UBERON:0000006	75.95	gold quality
gall bladder	UBERON:0002110	75.45	gold quality
left adrenal gland cortex	UBERON:0035825	75.25	gold quality
stromal cell of endometrium	CL:0002255	75.10	gold quality
pancreas	UBERON:0001264	75.05	gold quality
granulocyte	CL:0000094	74.74	gold quality
vermiform appendix	UBERON:0001154	74.61	gold quality
small intestine	UBERON:0002108	74.31	gold quality
small intestine Peyer’s patch	UBERON:0003454	74.23	gold quality
adrenal gland	UBERON:0002369	74.21	gold quality
left ovary	UBERON:0002119	74.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

93 targeting PUS10, 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-126-5P	100.00	72.71	3180
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-4428	99.73	66.41	1733

Literature-anchored findings (GeneRIF, showing 5)

• crystal structure of Pus10 (previously denoted as FLJ32312) at 2.0 A resolution and modeling studies describe protein domains and active sites (PMID:17900615)
• These data suggest that the cleaved DOBI may acquire a new function, possibly by cooperating with tBid in the mitochondrial event of cell death caused by TRAIL. (PMID:19712588)
• The caspase-3-mediated movement of PUS10 and the release of mitochondrial contents enhancing caspase-3 activity creates a feedback amplification loop for caspase-3 action. Therefore, any defect in the movement or interactions of PUS10 would reduce the TRAIL sensitivity of tumor cells. (PMID:28981101)
• PUS10 differentially participates in the metabolic pathways of miRNA and tRNA. In the nucleus, PUS10 promotes miRNA biogenesis via interaction with pri-miRNA.In the cytoplasm, PUS10 modifies tRNA, and its pseudouridylation activity is required for cell growth. (PMID:31819270)
• Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA. (PMID:33023933)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pus10	ENSDARG00000079973
mus_musculus	Pus10	ENSMUSG00000020280
rattus_norvegicus	Pus10	ENSRNOG00000054151
drosophila_melanogaster	Pus10	FBGN0031227
caenorhabditis_elegans		WBGENE00012998

Protein

Protein identifiers

tRNA pseudouridine synthase Pus10 — Q3MIT2 (reviewed: Q3MIT2)

Alternative names: Coiled-coil domain-containing protein 139, tRNA pseudouridine 55 synthase, tRNA pseudouridylate synthase, tRNA-uridine isomerase

All UniProt accessions (3): A8MUL8, C9JNL8, Q3MIT2

UniProt curated annotations — full annotation on UniProt →

Function. Protein with different functions depending on its subcellular location: involved in miRNA processing in the nucleus and acts as a tRNA pseudouridylate synthase in the cytoplasm. In the cytoplasm, acts as a pseudouridylate synthase by catalyzing synthesis of pseudouridine(54) and pseudouridine(55) from uracil-54 and uracil-55, respectively, in the psi GC loop of a subset of tRNAs. tRNA pseudouridylate synthase activity is enhanced by the presence of 1-methyladenosine at position 53-61 of tRNAs. Does not show tRNA pseudouridylate synthase activity in the nucleus. In the nucleus, promotes primary microRNAs (pri-miRNAs) processing independently of its RNA pseudouridylate synthase activity. Binds pri-miRNAs. Modulator of TRAIL/TNFSF10-induced cell death via activation of procaspase-8 and BID cleavage. Required for the progression of the apoptotic signal through intrinsic mitochondrial cell death.

Subunit / interactions. Interacts with components of the microprocessor complex DROSHA and DGCR8.

Subcellular location. Nucleus. Cytoplasm. Mitochondrion.

Post-translational modifications. Proteolytically cleaved during TRAIL-induced cell death. Cleaved, in vitro, either by caspase-3 (CASP3) or caspase-8 (CASP8).

Similarity. Belongs to the pseudouridine synthase Pus10 family.

RefSeq proteins (4): NP_001309052, NP_001309053, NP_001309056, NP_653310* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR020103	PsdUridine_synth_cat_dom_sf	Homologous_superfamily
IPR039894	Pus10-like	Family
IPR048741	Pus10-like_C	Domain
IPR048742	Pus10_N_euk	Domain

Pfam: PF21237, PF21238

Enzyme classification (BRENDA):

• EC 5.4.99.25 — tRNA pseudouridine55 synthase (BRENDA: 11 organisms, 31 substrates, 2 inhibitors, 14 Km, 14 kcat entries)
• EC 5.4.99.B22 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)
• EC 5.4.99.B25 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

Substrate kinetics (BRENDA)

1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
TRNA URIDINE55	0.0001–0.78	13

Catalyzed reactions (Rhea), 2 shown:

• uridine(55) in tRNA = pseudouridine(55) in tRNA (RHEA:42532)
• uridine(54) in tRNA = pseudouridine(54) in tRNA (RHEA:57876)

UniProt features (54 total): helix 23, strand 14, binding site 4, turn 3, region of interest 2, modified residue 2, chain 1, sequence variant 1, mutagenesis site 1, sequence conflict 1, coiled-coil region 1, active site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2V9K	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3MIT2-F1	88.64	0.82

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 (1): 344 (nucleophile)

Ligand- & substrate-binding residues (4): 21; 24; 109; 112

Post-translational modifications (2): 84, 79

Mutagenesis-validated functional residues (1):

Position	Phenotype
344	abolished trna pseudouridine synthase without affecting ability to promote mirna processing.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 142 (showing top): RNGTGGGC_UNKNOWN, GOBP_TRNA_METABOLIC_PROCESS, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_DN, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_PSEUDOURIDINE_SYNTHESIS, GOBP_RNA_MODIFICATION, ARGGGTTAA_UNKNOWN, NOUZOVA_METHYLATED_IN_APL, GOBP_TRNA_PROCESSING, GOBP_TRNA_MODIFICATION, GOMF_PSEUDOURIDINE_SYNTHASE_ACTIVITY, GOMF_INTRAMOLECULAR_TRANSFERASE_ACTIVITY, GOMF_ISOMERASE_ACTIVITY

GO Biological Process (5): primary miRNA processing (GO:0031053), tRNA pseudouridine synthesis (GO:0031119), pseudouridine synthesis (GO:0001522), tRNA processing (GO:0008033), RNA modification (GO:0009451)

GO Molecular Function (8): pseudouridine synthase activity (GO:0009982), metal ion binding (GO:0046872), primary miRNA binding (GO:0070878), tRNA pseudouridine synthase activity (GO:0106029), tRNA pseudouridine(55) synthase activity (GO:0160148), RNA binding (GO:0003723), protein binding (GO:0005515), isomerase activity (GO:0016853)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
cytoplasm	2
miRNA processing	1
pseudouridine synthesis	1
tRNA modification	1
RNA modification	1
RNA processing	1
tRNA metabolic process	1
RNA metabolic process	1
macromolecule modification	1
intramolecular transferase activity	1
cation binding	1
RNA binding	1
pseudouridine synthase activity	1
catalytic activity, acting on a tRNA	1
tRNA pseudouridine synthase activity	1
nucleic acid binding	1
binding	1
catalytic activity	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

766 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PUS10	TRUB1	Q8WWH5	833
PUS10	PUS1	Q9Y606	810
PUS10	PUS7	Q96PZ0	807
PUS10	PUS7L	Q9H0K6	793
PUS10	RPUSD2	Q8IZ73	763
PUS10	PUS3	Q9BZE2	756
PUS10	TRUB2	O95900	754
PUS10	RPUSD1	Q9UJJ7	744
PUS10	RPUSD3	Q6P087	716
PUS10	RPUSD4	Q96CM3	710
PUS10	DKC1	O60832	709
PUS10	TNFSF10	P50591	663
PUS10	NOP10	Q9NPE3	645
PUS10	PUSL1	Q8N0Z8	605
PUS10	NHP2	Q9NX24	587

IntAct

31 interactions, top by confidence:

A	B	Type	Score
PUS10	ABITRAM	psi-mi:“MI:0915”(physical association)	0.740
PUS10		psi-mi:“MI:0915”(physical association)	0.560
PUS10	VPS16	psi-mi:“MI:0915”(physical association)	0.560
PUS10	GLO1	psi-mi:“MI:0915”(physical association)	0.560
PUS10	USP25	psi-mi:“MI:0915”(physical association)	0.560
	PUS10	psi-mi:“MI:0915”(physical association)	0.560
GLO1	PUS10	psi-mi:“MI:0915”(physical association)	0.560
PUS10	NECAB2	psi-mi:“MI:0915”(physical association)	0.560
KRT16	PUS10	psi-mi:“MI:0915”(physical association)	0.560
KRT14	PUS10	psi-mi:“MI:0915”(physical association)	0.560
ABITRAM	POTEF	psi-mi:“MI:0914”(association)	0.530
ABITRAM	FYN	psi-mi:“MI:0914”(association)	0.350
PUS10	NECAB2	psi-mi:“MI:0915”(physical association)	0.000
PUS10	USP25	psi-mi:“MI:0915”(physical association)	0.000
PUS10	KRT16	psi-mi:“MI:0915”(physical association)	0.000
ABITRAM	PUS10	psi-mi:“MI:0915”(physical association)	0.000
PUS10	ABITRAM	psi-mi:“MI:0915”(physical association)	0.000
PUS10	KRT14	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (10): FAM206A (Co-fractionation), PUS10 (Affinity Capture-MS), PUS10 (Synthetic Lethality), PUS10 (Two-hybrid), PUS10 (Two-hybrid), PUS10 (Two-hybrid), KRT16 (Two-hybrid), KRT14 (Two-hybrid), PUS10 (Affinity Capture-MS), FAM206A (Co-fractionation)

ESM2 similar proteins: A2ADA5, A4PCD4, A6H611, D3ZDM7, F6PHZ6, O75344, P04053, P09838, P17256, P36195, P47823, P55345, Q01992, Q03426, Q08602, Q0V8R7, Q13144, Q1L8I0, Q3MIT2, Q4KM92, Q4QQT0, Q5CZL1, Q5E9Z1, Q5I0L3, Q5M7T9, Q5M934, Q5RFE6, Q5XGM5, Q64350, Q6GQ53, Q7L3T8, Q80W22, Q86YJ6, Q8BYL4, Q8C0D0, Q8CHW4, Q8N0Z8, Q8WWH5, Q91XW8, Q92089

Diamond homologs: A0B7V3, A1RX33, A4WLQ5, B1L7A7, B9LQ94, D5TZL3, D7DQH5, D9PYH9, E0SNQ8, E1QUT8, O29113, Q2NE45, Q3MIT2, Q60346, Q6ING2, Q6L227, Q8TUV7, Q8U1R6, Q9D3U0, Q9HIN9, Q9VPK7, Q9YDC3, Q9YEN2, A8MDD0, D9PZU4, A0RUP0, A3MS77, A9A215, Q8ZYB3, A4WH37

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	67
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
2424571	NC_000002.11:g.(?61108976)(61275905_?)del	Pathogenic
3247397	NC_000002.11:g.(?61244895)(61275905_?)del	Pathogenic

SpliceAI

3515 predictions. Top by Δscore:

Variant	Effect	Δscore
2:60942434:C:CC	acceptor_gain	1.0000
2:60945116:T:C	acceptor_gain	1.0000
2:60945116:T:TC	acceptor_gain	1.0000
2:60945120:T:C	acceptor_gain	1.0000
2:60945120:T:TC	acceptor_gain	1.0000
2:60948092:A:AC	donor_gain	1.0000
2:60948093:C:CC	donor_gain	1.0000
2:60953113:CT:C	acceptor_gain	1.0000
2:60953115:C:CC	acceptor_gain	1.0000
2:60953985:TTTT:T	acceptor_gain	1.0000
2:60954175:CGTCA:C	acceptor_gain	1.0000
2:60954178:CA:C	acceptor_gain	1.0000
2:60960390:A:AC	donor_gain	1.0000
2:60960391:C:CC	donor_gain	1.0000
2:60960391:CT:C	donor_gain	1.0000
2:60960391:CTCT:C	donor_gain	1.0000
2:60962891:C:CC	acceptor_gain	1.0000
2:60971580:C:CT	acceptor_gain	1.0000
2:60971580:C:T	acceptor_gain	1.0000
2:60971581:A:T	acceptor_gain	1.0000
2:61008876:C:A	donor_gain	1.0000
2:61008895:G:C	donor_gain	1.0000
2:61008912:T:TA	donor_gain	1.0000
2:61009013:CTC:C	acceptor_gain	1.0000
2:61009014:TC:T	acceptor_gain	1.0000
2:61009015:CC:C	acceptor_gain	1.0000
2:61009015:CCTG:C	acceptor_loss	1.0000
2:61009016:C:CC	acceptor_gain	1.0000
2:61009016:CT:C	acceptor_loss	1.0000
2:61011906:C:CC	acceptor_gain	1.0000

AlphaMissense

3507 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:60945019:A:G	L514P	1.000
2:60945099:T:A	K487N	1.000
2:60945099:T:G	K487N	1.000
2:60945100:T:A	K487I	1.000
2:60948139:C:A	R452M	1.000
2:60948139:C:G	R452T	1.000
2:60955043:A:C	D344E	1.000
2:60955043:A:T	D344E	1.000
2:60955044:T:G	D344A	1.000
2:60955045:C:G	D344H	1.000
2:60955053:C:T	G341E	1.000
2:60960476:A:G	W306R	1.000
2:60960476:A:T	W306R	1.000
2:60942416:C:A	W523C	0.999
2:60942416:C:G	W523C	0.999
2:60942418:A:G	W523R	0.999
2:60942418:A:T	W523R	0.999
2:60945019:A:T	L514Q	0.999
2:60945072:T:A	R496S	0.999
2:60945072:T:G	R496S	0.999
2:60945073:C:G	R496T	0.999
2:60945097:T:A	E488V	0.999
2:60945098:C:T	E488K	0.999
2:60945101:T:C	K487E	0.999
2:60945107:A:G	Y485H	0.999
2:60948046:C:T	G483D	0.999
2:60948138:C:A	R452S	0.999
2:60948138:C:G	R452S	0.999
2:60948140:T:C	R452G	0.999
2:60948142:C:G	R451P	0.999

dbSNP variants (sampled 300 via entrez): RS1000038355 (2:60945921 T>A,C), RS1000082325 (2:60962561 T>C), RS1000097749 (2:61019459 G>A), RS1000177326 (2:60948560 A>G), RS1000246231 (2:60956150 C>A,T), RS1000276606 (2:61010829 C>T), RS1000308813 (2:61004831 A>G), RS1000312022 (2:60952496 G>A), RS1000329362 (2:61011339 CTATT>C), RS1000339795 (2:60942035 T>A,C), RS1000352994 (2:61010568 A>C), RS1000388338 (2:60988905 G>A), RS1000450792 (2:60995193 A>C,G), RS1000460364 (2:60988645 T>C), RS1000482615 (2:60992325 T>C)

Disease associations

OMIM: gene MIM:612787 | disease phenotypes: MIM:614883

GenCC curated gene-disease

Mondo (1): peroxisome biogenesis disorder 11A (Zellweger) (MONDO:0013949)

Orphanet (1): Zellweger syndrome (Orphanet:912)

HPO phenotypes

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

GWAS associations

15 associations (top):

Study	Trait	p-value
GCST000624_10	Ulcerative colitis	7.000000e-09
GCST000955_1	Crohn’s disease and celiac disease	1.000000e-11
GCST000964_29	Ulcerative colitis	2.000000e-14
GCST001438_15	Crohn’s disease	5.000000e-09
GCST003184_3	Atopic dermatitis	6.000000e-08
GCST004131_30	Inflammatory bowel disease	3.000000e-28
GCST004132_107	Crohn’s disease	6.000000e-14
GCST004133_8	Ulcerative colitis	4.000000e-23
GCST005523_7	Celiac disease	4.000000e-16
GCST005537_131	Chronic inflammatory diseases (ankylosing spondylitis, Crohn’s disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy)	2.000000e-32
GCST006956_8	Erectile dysfunction	8.000000e-06
GCST008489_13	Celiac disease	2.000000e-08
GCST008644_7	Celiac disease and Rheumatoid arthritis	4.000000e-08
GCST009597_17	Multiple sclerosis	2.000000e-19
GCST009874_12	Celiac disease	2.000000e-13

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression	3
bisphenol A	affects cotreatment, decreases methylation, affects expression	2
Cyclosporine	decreases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Atrazine	increases expression	1
Benzo(a)pyrene	decreases expression	1
Diuron	decreases expression	1
Doxorubicin	decreases expression	1
Estradiol	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Tretinoin	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Aflatoxin B1	affects expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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