RPUSD4

Summary

RPUSD4 (RNA pseudouridine synthase D4, HGNC:25898) is a protein-coding gene on chromosome 11q24.2, encoding Pseudouridylate synthase RPUSD4, mitochondrial (Q96CM3). Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of different mitochondrial RNA substrates. It is a selective cancer dependency (DepMap: 34.5% of cell lines).

Enables mitochondrial ribosomal large subunit rRNA binding activity; pseudouridine synthase activity; and tRNA binding activity. Involved in positive regulation of mitochondrial translation and pseudouridine synthesis. Located in mitochondrial matrix; nucleoplasm; and ribonucleoprotein granule.

Source: NCBI Gene 84881 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 61 total
• Cancer dependency (DepMap): dependent in 34.5% of screened cell lines
• MANE Select transcript: NM_032795

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25898
Approved symbol	RPUSD4
Name	RNA pseudouridine synthase D4
Location	11q24.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14494
Ensembl gene	ENSG00000165526
Ensembl biotype	protein_coding
OMIM	617488
Entrez	84881

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000298317, ENST00000525812, ENST00000526942, ENST00000530036, ENST00000530903, ENST00000532674, ENST00000532800, ENST00000533628, ENST00000534393, ENST00000905242, ENST00000918366

RefSeq mRNA: 3 — MANE Select: NM_032795 NM_001144827, NM_001363516, NM_032795

CCDS: CCDS53721, CCDS8469

Canonical transcript exons

ENST00000298317 — 7 exons

Exon	Start	End
ENSE00001093798	126202096	126203657
ENSE00003487384	126205688	126205781
ENSE00003559098	126210890	126211055
ENSE00003567970	126205468	126205612
ENSE00003599373	126209521	126209722
ENSE00003618980	126204231	126204328
ENSE00003843712	126211450	126211650

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 98.09.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.0097 / max 91.0322, expressed in 1804 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123018	15.9855	1804
123017	0.0198	9
123016	0.0044	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	98.09	gold quality
tibialis anterior	UBERON:0001385	98.07	gold quality
deltoid	UBERON:0001476	98.04	gold quality
vastus lateralis	UBERON:0001379	97.71	gold quality
quadriceps femoris	UBERON:0001377	97.46	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.27	gold quality
skeletal muscle tissue	UBERON:0001134	97.20	gold quality
gastrocnemius	UBERON:0001388	96.61	gold quality
skeletal muscle organ	UBERON:0014892	96.46	gold quality
tendon of biceps brachii	UBERON:0008188	96.44	gold quality
biceps brachii	UBERON:0001507	96.40	gold quality
muscle of leg	UBERON:0001383	96.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.00	gold quality
secondary oocyte	CL:0000655	95.93	gold quality
body of tongue	UBERON:0011876	95.56	gold quality
muscle tissue	UBERON:0002385	95.38	gold quality
cartilage tissue	UBERON:0002418	94.98	gold quality
upper arm skin	UBERON:0004263	94.01	silver quality
left ventricle myocardium	UBERON:0006566	93.48	silver quality
amniotic fluid	UBERON:0000173	93.20	gold quality
tongue	UBERON:0001723	93.18	gold quality
tibia	UBERON:0000979	92.87	gold quality
parotid gland	UBERON:0001831	92.63	gold quality
oocyte	CL:0000023	91.82	gold quality
parietal pleura	UBERON:0002400	91.78	gold quality
vena cava	UBERON:0004087	91.56	gold quality
gingival epithelium	UBERON:0001949	91.32	gold quality
palpebral conjunctiva	UBERON:0001812	91.28	gold quality
esophagus squamous epithelium	UBERON:0006920	91.12	gold quality
body of pancreas	UBERON:0001150	90.93	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-84465	yes	6.17
E-ANND-3	yes	4.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting RPUSD4, 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-188-3P	100.00	68.76	1240
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-885-5P	99.59	68.59	879
HSA-MIR-4524A-5P	99.57	71.73	1193
HSA-MIR-4524B-5P	99.57	71.68	1195
HSA-MIR-136-5P	99.50	67.26	1153
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-3692-5P	99.29	67.04	1421
HSA-MIR-6799-5P	99.14	65.72	2093
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-7153-3P	99.00	65.35	608
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-6838-3P	98.40	65.88	559
HSA-MIR-4773	98.35	67.30	1710
HSA-MIR-3689A-5P	98.35	70.12	1049
HSA-MIR-3689B-5P	98.35	70.12	1049
HSA-MIR-3689E	98.35	70.12	1049

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 34.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• RPUSD4 binds 16S mt-rRNA, mt-tRNA(Met), and mt-tRNA(Phe), and is responsible for pseudouridylation of the latter. (PMID:28082677)
• Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing. (PMID:35051350)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	rpusd4	ENSDARG00000012674
mus_musculus	Rpusd4	ENSMUSG00000032044
rattus_norvegicus	Rpusd4	ENSRNOG00000011567

Paralogs (3): RPUSD1 (ENSG00000007376), RPUSD3 (ENSG00000156990), RPUSD2 (ENSG00000166133)

Protein

Protein identifiers

Pseudouridylate synthase RPUSD4, mitochondrial — Q96CM3 (reviewed: Q96CM3)

Alternative names: RNA pseudouridylate synthase domain-containing protein 4

All UniProt accessions (2): E9PJV3, Q96CM3

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of different mitochondrial RNA substrates. Acts on position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA). This modification is required for the assembly of 16S mt-rRNA into a functional mitochondrial ribosome. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA, controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation. Acts on position 39 in mitochondrial tRNA(Phe). Also catalyzes pseudouridylation of mRNAs in nucleus: acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions. Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3’-end processing.

Subunit / interactions. Interacts with 16S mt-rRNA, mt-tRNA(Phe) and mt-tRNA(Met). Forms a regulatory protein-RNA complex, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA.

Subcellular location. Mitochondrion matrix. Nucleus. Cytoplasm.

Similarity. Belongs to the pseudouridine synthase RluA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96CM3-1	1	yes
Q96CM3-2	2

RefSeq proteins (3): NP_001138299, NP_001350445, NP_116184* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006145	PsdUridine_synth_RsuA/RluA	Domain
IPR006224	PsdUridine_synth_RluA-like_CS	Conserved_site
IPR020103	PsdUridine_synth_cat_dom_sf	Homologous_superfamily
IPR050188	RluA_PseudoU_synthase	Family

Pfam: PF00849

Enzyme classification (BRENDA):

• EC 5.4.99.B22 — (BRENDA: organisms, substrates, inhibitors, Km, kcat entries)

Catalyzed reactions (Rhea), 3 shown:

• uridine in 5S rRNA = pseudouridine in 5S rRNA (RHEA:47036)
• a uridine in tRNA = a pseudouridine in tRNA (RHEA:54572)
• a uridine in mRNA = a pseudouridine in mRNA (RHEA:56644)

UniProt features (28 total): strand 10, helix 7, sequence variant 4, transit peptide 1, chain 1, coiled-coil region 1, turn 1, active site 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5UBA	X-RAY DIFFRACTION	1.54

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96CM3-F1	84.71	0.71

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): 153

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6793080	rRNA modification in the mitochondrion
R-HSA-9937008	Mitochondrial mRNA modification

MSigDB gene sets: 140 (showing top): GOBP_RIBOSOME_BIOGENESIS, GOBP_TRNA_METABOLIC_PROCESS, GOBP_MITOCHONDRIAL_TRANSLATION, USF_C, CAGCTG_AP4_Q5, GOBP_MRNA_MODIFICATION, GOBP_PSEUDOURIDINE_SYNTHESIS, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_RNA_MODIFICATION, GOBP_MITOCHONDRIAL_RNA_PROCESSING, GOBP_RNA_SPLICING, GOBP_MITOCHONDRIAL_RNA_METABOLIC_PROCESS, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_TRNA_THREONYLCARBAMOYLADENOSINE_METABOLIC_PROCESS

GO Biological Process (11): rRNA modification (GO:0000154), mRNA processing (GO:0006397), RNA splicing (GO:0008380), rRNA pseudouridine synthesis (GO:0031118), positive regulation of mitochondrial translation (GO:0070131), mitochondrial tRNA pseudouridine synthesis (GO:0070902), mRNA pseudouridine synthesis (GO:1990481), pseudouridine synthesis (GO:0001522), rRNA processing (GO:0006364), tRNA processing (GO:0008033), RNA modification (GO:0009451)

GO Molecular Function (7): tRNA binding (GO:0000049), RNA binding (GO:0003723), pseudouridine synthase activity (GO:0009982), tRNA pseudouridine synthase activity (GO:0106029), mitochondrial ribosomal large subunit rRNA binding (GO:1990400), protein binding (GO:0005515), isomerase activity (GO:0016853)

GO Cellular Component (6): nucleoplasm (GO:0005654), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), ribonucleoprotein granule (GO:0035770), nucleus (GO:0005634), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
rRNA processing in the mitochondrion	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA processing	4
RNA modification	2
pseudouridine synthesis	2
mitochondrion	2
cellular anatomical structure	2
intracellular membrane-bounded organelle	2
rRNA processing	1
mRNA metabolic process	1
rRNA modification	1
mitochondrial translation	1
positive regulation of translation	1
regulation of mitochondrial translation	1
tRNA pseudouridine synthesis	1
mitochondrial tRNA modification	1
mRNA modification	1
rRNA metabolic process	1
ribosome biogenesis	1
tRNA metabolic process	1
RNA metabolic process	1
macromolecule modification	1
RNA binding	1
nucleic acid binding	1
intramolecular transferase activity	1
pseudouridine synthase activity	1
catalytic activity, acting on a tRNA	1
large ribosomal subunit rRNA binding	1
binding	1
catalytic activity	1
nuclear lumen	1
cytoplasm	1
intracellular organelle lumen	1
intracellular membraneless organelle	1
supramolecular complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2051 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RPUSD4	NGRN	Q9NPE2	877
RPUSD4	TRUB2	O95900	835
RPUSD4	FASTKD2	Q9NYY8	811
RPUSD4	PUS1	Q9Y606	757
RPUSD4	RCC1L	Q96I51	749
RPUSD4	PUS7L	Q9H0K6	744
RPUSD4	PUS3	Q9BZE2	730
RPUSD4	PTCD1	O75127	729
RPUSD4	PUSL1	Q8N0Z8	727
RPUSD4	PUS7	Q96PZ0	722
RPUSD4	TRUB1	Q8WWH5	716
RPUSD4	PUS10	Q3MIT2	710
RPUSD4	MRM2	Q9UI43	705
RPUSD4	MRM3	Q9HC36	701
RPUSD4	MRM1	Q6IN84	698

IntAct

81 interactions, top by confidence:

A	B	Type	Score
FAM120A	SYNCRIP	psi-mi:“MI:0914”(association)	0.640
FOS	RPUSD4	psi-mi:“MI:0915”(physical association)	0.610
GATM	RPUSD4	psi-mi:“MI:0915”(physical association)	0.560
HSF1	RPUSD4	psi-mi:“MI:0915”(physical association)	0.560
VWCE	ZNF316	psi-mi:“MI:0914”(association)	0.530
DDX28	PTCD1	psi-mi:“MI:0914”(association)	0.530
PRKCZ	IPO5	psi-mi:“MI:0914”(association)	0.530
IGF2BP3	PTCD1	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
PNMA2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
SRSF3	CASC3	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
RPUSD4	H1-2	psi-mi:“MI:0915”(physical association)	0.400
RPUSD4	RAB10	psi-mi:“MI:0915”(physical association)	0.400
RPUSD4	H1-4	psi-mi:“MI:0915”(physical association)	0.400
RPUSD4	HNRNPU	psi-mi:“MI:0915”(physical association)	0.400
RPUSD4		psi-mi:“MI:0915”(physical association)	0.370
Cul1	GPS1	psi-mi:“MI:0914”(association)	0.350
Cct3	PFDN1	psi-mi:“MI:0914”(association)	0.350
Ubr5	SFI1	psi-mi:“MI:0914”(association)	0.350
Tmed10	TARS3	psi-mi:“MI:0914”(association)	0.350

BioGRID (282): RPUSD4 (Affinity Capture-RNA), RPUSD4 (Affinity Capture-RNA), RPUSD4 (Affinity Capture-MS), RPUSD4 (Synthetic Growth Defect), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS), RPUSD4 (Affinity Capture-MS)

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: O16686, O25114, O25441, O25610, O66114, O67638, P0A5T3, P0AA37, P0AA38, P0AA41, P0AA42, P33640, P43930, P44197, P44433, P45614, P47451, P53294, P57430, P59831, P59840, P70870, P74346, P75485, P9WHQ2, P9WHQ3, Q08C69, Q0DST9, Q12069, Q149F1, Q17QT4, Q1RJX7, Q3ECD0, Q45480, Q45826, Q47417, Q4QQT0, Q4UKQ3, Q5M721, Q68XB2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	5	11.9×	8e-03
protein localization to plasma membrane	6	8.9×	8e-03
mRNA splicing, via spliceosome	7	8.8×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1087 predictions. Top by Δscore:

Variant	Effect	Δscore
11:126203654:GCTT:G	acceptor_loss	1.0000
11:126203655:CTT:C	acceptor_gain	1.0000
11:126203657:TC:T	acceptor_loss	1.0000
11:126203658:C:CC	acceptor_gain	1.0000
11:126203658:CTATA:C	acceptor_loss	1.0000
11:126203660:A:C	acceptor_gain	1.0000
11:126204246:ATT:A	donor_gain	1.0000
11:126204328:CCT:C	acceptor_gain	1.0000
11:126204330:T:C	acceptor_gain	1.0000
11:126205463:CTCAC:C	donor_loss	1.0000
11:126205464:T:A	donor_gain	1.0000
11:126205464:TCACC:T	donor_loss	1.0000
11:126205466:A:AC	donor_gain	1.0000
11:126205467:C:CC	donor_gain	1.0000
11:126205608:GTCAT:G	acceptor_gain	1.0000
11:126205609:TCAT:T	acceptor_gain	1.0000
11:126205610:CAT:C	acceptor_gain	1.0000
11:126205610:CATC:C	acceptor_gain	1.0000
11:126205611:ATC:A	acceptor_loss	1.0000
11:126205612:TCTGA:T	acceptor_loss	1.0000
11:126205613:C:CA	acceptor_loss	1.0000
11:126205613:C:CC	acceptor_gain	1.0000
11:126205614:T:A	acceptor_loss	1.0000
11:126209526:CTTCT:C	donor_gain	1.0000
11:126209527:TTCTT:T	donor_gain	1.0000
11:126209528:TCTTC:T	donor_gain	1.0000
11:126209614:T:TA	donor_gain	1.0000
11:126211053:CAC:C	acceptor_gain	1.0000
11:126211054:ACC:A	acceptor_loss	1.0000
11:126211056:C:CC	acceptor_gain	1.0000

AlphaMissense

2444 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:126205525:A:C	Y247D	0.994
11:126203587:A:G	L322P	0.993
11:126204268:T:A	D286V	0.993
11:126204268:T:G	D286A	0.993
11:126210912:C:A	K111N	0.993
11:126210912:C:G	K111N	0.993
11:126204269:C:G	D286H	0.992
11:126204271:C:A	G285V	0.992
11:126205536:G:T	A243D	0.991
11:126204268:T:C	D286G	0.989
11:126204271:C:T	G285D	0.989
11:126204307:A:T	V273D	0.989
11:126205482:A:G	L261P	0.989
11:126209633:A:G	C149R	0.989
11:126210914:T:C	K111E	0.989
11:126209525:A:G	Y185H	0.988
11:126209529:C:A	K183N	0.988
11:126209529:C:G	K183N	0.988
11:126204261:C:A	K288N	0.987
11:126204261:C:G	K288N	0.987
11:126209620:T:A	D153V	0.987
11:126203572:A:G	L327P	0.986
11:126204272:C:G	G285R	0.986
11:126205780:C:G	A187P	0.986
11:126204259:T:G	Y289S	0.985
11:126204260:A:G	Y289H	0.985
11:126204305:G:C	H274D	0.985
11:126209626:C:G	R151P	0.985
11:126209631:G:C	C149W	0.985
11:126204260:A:C	Y289D	0.984

dbSNP variants (sampled 300 via entrez): RS1000001988 (11:126211625 C>T), RS1000215244 (11:126202829 T>A,C), RS1000218423 (11:126205964 A>G), RS1000337269 (11:126208342 A>G), RS1000959384 (11:126210017 A>G), RS1001150885 (11:126204540 C>A), RS1001321660 (11:126203736 T>C), RS1001340543 (11:126209466 G>T), RS1002221353 (11:126203380 T>A), RS1002324158 (11:126205273 A>G), RS1002356740 (11:126204906 A>C,T), RS1002421004 (11:126210529 ACACACACACACACACACACACC>A), RS1002552605 (11:126203112 A>C,T), RS1002800181 (11:126210733 G>A), RS1002943844 (11:126207518 A>G)

Disease associations

OMIM: gene MIM:617488 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000675_14	Heart failure	3.000000e-06
GCST004183_2	Lung function (FEV1)	5.000000e-10
GCST004361_7	Estrone/androstenedione ratio in resected early stage-receptor positive breast cancer	7.000000e-06
GCST007430_85	Peak expiratory flow	1.000000e-13
GCST007431_113	Lung function (FEV1/FVC)	5.000000e-15
GCST007432_145	FEV1	1.000000e-10
GCST009391_1658	Metabolite levels	7.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume
EFO:0007970	estrone measurement
EFO:0007972	androstenedione measurement
EFO:0009718	peak expiratory flow
EFO:0004713	FEV/FVC ratio
EFO:0010469	carnitine measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	3
Air Pollutants	increases abundance, increases expression, affects expression, affects cotreatment	2
Ozone	affects cotreatment, increases expression, increases abundance, affects expression	2
Cadmium Chloride	increases expression, decreases expression, increases abundance	2
alpha-pinene	increases abundance, affects cotreatment, increases expression	1
perfluorooctanoic acid	decreases expression	1
potassium chromate(VI)	affects cotreatment, increases expression	1
cupric oxide	increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
epigallocatechin gallate	affects cotreatment, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
dimethylarsinous acid	decreases expression	1
Temozolomide	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Vanadates	decreases expression	1
Okadaic Acid	decreases expression	1
Volatile Organic Compounds	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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