MRPL33

Summary

MRPL33 (mitochondrial ribosomal protein L33, HGNC:14487) is a protein-coding gene on chromosome 2p23.2, encoding Large ribosomal subunit protein bL33m (O75394). It is a selective cancer dependency (DepMap: 83.0% of cell lines).

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described.

Source: NCBI Gene 9553 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 18 total
• Cancer dependency (DepMap): dependent in 83.0% of screened cell lines
• MANE Select transcript: NM_004891

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14487
Approved symbol	MRPL33
Name	mitochondrial ribosomal protein L33
Location	2p23.2
Locus type	gene with protein product
Status	Approved
Aliases	RPL33L, bL33m
Ensembl gene	ENSG00000243147
Ensembl biotype	protein_coding
OMIM	610059
Entrez	9553

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000296102, ENST00000379666, ENST00000448427, ENST00000472192, ENST00000476552, ENST00000483992, ENST00000883033

RefSeq mRNA: 2 — MANE Select: NM_004891 NM_004891, NM_145330

CCDS: CCDS1761, CCDS33167

Canonical transcript exons

ENST00000296102 — 4 exons

Exon	Start	End
ENSE00001727943	27779433	27779733
ENSE00003508191	27774424	27774530
ENSE00003517327	27772674	27772692
ENSE00003849260	27771719	27771799

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 99.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 54.5867 / max 2743.9813, expressed in 1813 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
19401	52.0738	1813
19403	1.5895	1008
19400	0.4454	229
19402	0.3892	183
19404	0.0889	30

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right adrenal gland cortex	UBERON:0035827	99.67	gold quality
right adrenal gland	UBERON:0001233	99.65	gold quality
left adrenal gland cortex	UBERON:0035825	99.63	gold quality
left adrenal gland	UBERON:0001234	99.62	gold quality
adrenal cortex	UBERON:0001235	99.59	gold quality
adrenal gland	UBERON:0002369	99.42	gold quality
gastrocnemius	UBERON:0001388	99.20	gold quality
heart left ventricle	UBERON:0002084	99.17	gold quality
right atrium auricular region	UBERON:0006631	99.16	gold quality
muscle of leg	UBERON:0001383	99.15	gold quality
cardiac ventricle	UBERON:0002082	99.14	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.14	gold quality
apex of heart	UBERON:0002098	99.13	gold quality
lower esophagus	UBERON:0013473	99.12	gold quality
biceps brachii	UBERON:0001507	99.01	gold quality
muscle organ	UBERON:0001630	99.01	gold quality
popliteal artery	UBERON:0002250	99.01	gold quality
tibial artery	UBERON:0007610	99.01	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.00	gold quality
heart	UBERON:0000948	98.99	gold quality
ascending aorta	UBERON:0001496	98.99	gold quality
thoracic aorta	UBERON:0001515	98.99	gold quality
aorta	UBERON:0000947	98.98	gold quality
metanephros cortex	UBERON:0010533	98.98	gold quality
cardiac atrium	UBERON:0002081	98.92	gold quality
descending thoracic aorta	UBERON:0002345	98.92	gold quality
adenohypophysis	UBERON:0002196	98.91	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.87	gold quality
adrenal tissue	UBERON:0018303	98.85	gold quality
left coronary artery	UBERON:0001626	98.83	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	144.02
E-HCAD-6	yes	44.66
E-CURD-112	yes	31.39
E-MTAB-6701	yes	19.44
E-HCAD-1	yes	18.39
E-HCAD-10	yes	17.48
E-MTAB-10042	yes	6.94
E-GEOD-81547	no	10.05
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting MRPL33, 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-513A-5P	100.00	69.77	2465
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-106A-3P	99.53	67.58	995
HSA-MIR-4762-3P	99.43	69.72	2363
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-1295B-5P	99.03	67.50	810
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-5581-3P	98.55	70.31	1161
HSA-MIR-3130-5P	98.14	66.00	711
HSA-MIR-6881-3P	98.04	68.24	1777
HSA-MIR-876-5P	97.99	68.49	1345
HSA-MIR-676-3P	97.86	65.70	668
HSA-MIR-4482-5P	97.53	65.68	598
HSA-MIR-6872-3P	97.08	66.99	750
HSA-MIR-3167	96.81	67.09	1236
HSA-MIR-1238-3P	95.27	62.25	552

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 83.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Study findings underscore the biological significance of MRPL33-L and hnRNPK in the tumor formation and identifies hnRNPK as a critical splicing regulator of MRPL33 pre-mRNA in cancer cells. (PMID:28869607)
• Study revealed that isoforms S and L of MRPL33, which arise from alternative splicing, exhibited opposing roles in the chemoresponse to epirubicin in gastric cancer via the PI3K/AKT signaling pathway. (PMID:30816492)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	mrpl33	ENSDARG00000104031
mus_musculus	Mrpl33	ENSMUSG00000106918
rattus_norvegicus	Mrpl33	ENSRNOG00000025388

Protein

Protein identifiers

Large ribosomal subunit protein bL33m — O75394 (reviewed: O75394)

Alternative names: 39S ribosomal protein L33, mitochondrial

All UniProt accessions (2): F8WF37, O75394

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.

Subcellular location. Mitochondrion.

Similarity. Belongs to the bacterial ribosomal protein bL33 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O75394-1	1	yes
O75394-2	2

RefSeq proteins (2): NP_004882, NP_663303 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001705	Ribosomal_bL33	Family
IPR011332	Ribosomal_zn-bd	Homologous_superfamily
IPR038584	Ribosomal_bL33_sf	Homologous_superfamily
IPR052008	Mitoribosomal_protein_bL33	Family

Pfam: PF00471

UniProt features (9 total): strand 5, transit peptide 1, chain 1, splice variant 1, turn 1

Structure

Experimental structures (PDB)

86 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
7OF0	ELECTRON MICROSCOPY	2.2
7QI4	ELECTRON MICROSCOPY	2.21
8RRI	ELECTRON MICROSCOPY	2.4
8QU5	ELECTRON MICROSCOPY	2.42
9OLF	ELECTRON MICROSCOPY	2.46
7OF7	ELECTRON MICROSCOPY	2.5
7PO4	ELECTRON MICROSCOPY	2.56
6ZM6	ELECTRON MICROSCOPY	2.59
7O9M	ELECTRON MICROSCOPY	2.6
7OF6	ELECTRON MICROSCOPY	2.6
9CN3	ELECTRON MICROSCOPY	2.62
7QI5	ELECTRON MICROSCOPY	2.63
7OF2	ELECTRON MICROSCOPY	2.7
7OF3	ELECTRON MICROSCOPY	2.7
7OF4	ELECTRON MICROSCOPY	2.7
8QU1	ELECTRON MICROSCOPY	2.74
9PR4	ELECTRON MICROSCOPY	2.77
9PRA	ELECTRON MICROSCOPY	2.83
8ANY	ELECTRON MICROSCOPY	2.85
6ZM5	ELECTRON MICROSCOPY	2.89
7QH7	ELECTRON MICROSCOPY	2.89
7ODR	ELECTRON MICROSCOPY	2.9
7OF5	ELECTRON MICROSCOPY	2.9
8K2A	ELECTRON MICROSCOPY	2.9
8OIT	ELECTRON MICROSCOPY	2.9
9PGL	ELECTRON MICROSCOPY	2.9
9PGF	ELECTRON MICROSCOPY	2.93
6VMI	ELECTRON MICROSCOPY	2.96
6VLZ	ELECTRON MICROSCOPY	2.97
7QI6	ELECTRON MICROSCOPY	2.98

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75394-F1	91.40	0.80

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-5368286	Mitochondrial translation initiation
R-HSA-5389840	Mitochondrial translation elongation
R-HSA-5419276	Mitochondrial translation termination
R-HSA-9937383	Mitochondrial ribosome-associated quality control
R-HSA-392499	Metabolism of proteins
R-HSA-5368287	Mitochondrial translation
R-HSA-72766	Translation

MSigDB gene sets: 149 (showing top): MODULE_151, CHEOK_RESPONSE_TO_MERCAPTOPURINE_AND_LD_MTX_UP, GOBP_MITOCHONDRIAL_TRANSLATION, GOBP_TRANSLATION, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, MARTINEZ_RB1_TARGETS_DN, GOMF_STRUCTURAL_CONSTITUENT_OF_RIBOSOME, GOCC_MITOCHONDRIAL_ENVELOPE, LASTOWSKA_COAMPLIFIED_WITH_MYCN, SCHLOSSER_SERUM_RESPONSE_DN, MODULE_114, YAGI_AML_WITH_T_9_11_TRANSLOCATION, GOCC_LARGE_RIBOSOMAL_SUBUNIT, GOCC_RIBOSOME, YAGI_AML_WITH_11Q23_REARRANGED

GO Biological Process (2): mitochondrial translation (GO:0032543), translation (GO:0006412)

GO Molecular Function (1): structural constituent of ribosome (GO:0003735)

GO Cellular Component (6): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial large ribosomal subunit (GO:0005762), cytoplasm (GO:0005737), ribosome (GO:0005840), ribonucleoprotein complex (GO:1990904)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Mitochondrial translation	4
Translation	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mitochondrion	1
translation	1
mitochondrial gene expression	1
peptidyltransferase activity	1
translational initiation	1
translational elongation	1
translational termination	1
macromolecule biosynthetic process	1
protein metabolic process	1
protein biosynthetic process	1
structural molecule activity	1
ribosome	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
organellar large ribosomal subunit	1
mitochondrial ribosome	1
mitochondrial protein-containing complex	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membraneless organelle	1
protein-containing complex	1

Protein interactions and networks

STRING

2609 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MRPL33	MRPL20	Q9BYC9	645
MRPL33	MRPL21	Q7Z2W9	619
MRPL33	MRPL24	Q96A35	604
MRPL33	MRPL13	Q9BYD1	592
MRPL33	MRPL17	Q9NRX2	578
MRPL33	MRPL16	Q9NX20	552
MRPL33	CD34	P28906	549
MRPL33	F5H3C5	F5H3C5	547
MRPL33	SOD2	P04179	547
MRPL33	MRPL47	Q9HD33	529
MRPL33	KGD4	P82909	521
MRPL33	RBKS	Q9H477	519
MRPL33	MRPS15	P82914	503
MRPL33	MRPL36	Q9P0J6	493
MRPL33	MRPS7	Q9Y2R9	490

IntAct

50 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
MALSU1	NDUFAB1	psi-mi:“MI:0914”(association)	0.710
MRPS30	GTPBP10	psi-mi:“MI:0914”(association)	0.640
MRPL50	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL10	ZZEF1	psi-mi:“MI:0914”(association)	0.530
MRPL42	GATC	psi-mi:“MI:0914”(association)	0.530
MRPL13	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL18	GTPBP10	psi-mi:“MI:0914”(association)	0.530
MRPL27	MRPL33	psi-mi:“MI:0914”(association)	0.530
NDUFAB1	MIEF1	psi-mi:“MI:0915”(physical association)	0.490
Nrip3	ILVBL	psi-mi:“MI:0914”(association)	0.350
RETREG2	SLC27A2	psi-mi:“MI:0914”(association)	0.350
Brwd3	WDR91	psi-mi:“MI:0914”(association)	0.350
SYNCRIP	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
CNTROB	CENPX	psi-mi:“MI:0914”(association)	0.350
MRPL50	MRPL43	psi-mi:“MI:0914”(association)	0.350
MRPL9	MRPL43	psi-mi:“MI:0914”(association)	0.350
MRPL1	MRPL43	psi-mi:“MI:0914”(association)	0.350
MRPL4	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
MRPL12		psi-mi:“MI:0914”(association)	0.350
MRPL47	MRPL33	psi-mi:“MI:0914”(association)	0.350
MTRES1	MRPL33	psi-mi:“MI:0914”(association)	0.350
ATAD3A	TMEM223	psi-mi:“MI:0914”(association)	0.350
STAT3	MRPL33	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
MRPL33		psi-mi:“MI:0914”(association)	0.350

BioGRID (84): MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS), MRPL33 (Affinity Capture-MS)

ESM2 similar proteins: A1REU6, A1S2D4, A3QIP7, A4Y2L3, A5CCZ7, A5CVN3, A6MVX6, A8F0A3, A8F2Z7, A8GQA8, A8GU57, A8GY80, B0BVP6, B3CNB7, B3CRY6, B9KI16, C3PM21, O74394, O75394, O78487, O84152, P36533, Q1CY77, Q1RGQ4, Q2GEE6, Q2GJF3, Q3KML9, Q3SZ47, Q3YSN4, Q491X1, Q4RGM4, Q4UJQ2, Q54YX7, Q5FFJ4, Q5GSD9, Q5HBV6, Q5L5W6, Q5PBA7, Q68VN5, Q73GL5

Diamond homologs: A0K1X5, A1RB23, A1TSP8, A1UT31, A1WB80, A1WZG4, A3M1V8, A4G7W1, A4SZN4, A5CCZ7, A5CV83, A5FUI6, A5IHB7, A5VA19, A5WD02, A6T146, A6VSY5, A8F0A3, A8F2Z7, A8GQA8, A8GU57, A8GY80, A9BNV0, A9HJ69, A9IU26, A9WTS8, B0BVP6, B0UFA1, B0V4N2, B0VL80, B1Y148, B2FNE2, B2GG85, B2I391, B2IBG2, B3CNB7, B3CRY6, B4E8Y8, B4S2C4, B5ENA6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
MRPL33	“form complex”	“39S mitochondrial large ribosomal subunit”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Mitochondrial ribosome-associated quality control	23	78.5×	2e-38
Mitochondrial translation	18	68.8×	1e-28
Mitochondrial translation initiation	19	67.0×	6e-30
Mitochondrial translation elongation	19	67.0×	6e-30
Mitochondrial translation termination	19	58.0×	9e-29
Translation	18	31.0×	4e-22

GO biological processes:

GO term	Partners	Fold	FDR
mitochondrial translation	20	77.2×	1e-31
translation	10	22.8×	2e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4788 predictions. Top by Δscore:

Variant	Effect	Δscore
2:27772651:A:AG	acceptor_gain	1.0000
2:27772652:A:G	acceptor_gain	1.0000
2:27779431:A:AG	acceptor_gain	1.0000
2:27779432:G:GG	acceptor_gain	1.0000
2:27779432:GT:G	acceptor_gain	1.0000
2:27781666:T:TA	donor_gain	1.0000
2:27781685:A:AC	donor_gain	1.0000
2:27781686:C:CC	donor_gain	1.0000
2:27781686:CTG:C	donor_gain	1.0000
2:27827565:A:AC	donor_gain	1.0000
2:27827566:C:CC	donor_gain	1.0000
2:27827752:CAGC:C	acceptor_gain	1.0000
2:27827756:C:CC	acceptor_gain	1.0000
2:27832680:CCTTA:C	donor_loss	1.0000
2:27832681:CTTAC:C	donor_loss	1.0000
2:27832683:TACCT:T	donor_loss	1.0000
2:27832685:CCTCA:C	donor_gain	1.0000
2:27832773:TTTCA:T	acceptor_gain	1.0000
2:27832774:TTCA:T	acceptor_gain	1.0000
2:27832775:TCA:T	acceptor_gain	1.0000
2:27832776:CA:C	acceptor_gain	1.0000
2:27832776:CAC:C	acceptor_gain	1.0000
2:27832776:CACTA:C	acceptor_loss	1.0000
2:27832778:C:CC	acceptor_gain	1.0000
2:27832781:C:CT	acceptor_gain	1.0000
2:27843062:ATTAC:A	donor_loss	1.0000
2:27843063:TTAC:T	donor_loss	1.0000
2:27843064:TA:T	donor_loss	1.0000
2:27843065:A:AT	donor_loss	1.0000
2:27843227:CTGGC:C	acceptor_gain	1.0000

AlphaMissense

421 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27774484:A:C	R34S	0.995
2:27774484:A:T	R34S	0.995
2:27774446:A:C	S22R	0.994
2:27774448:C:A	S22R	0.994
2:27774448:C:G	S22R	0.994
2:27779450:T:C	F56L	0.993
2:27779452:C:A	F56L	0.993
2:27779452:C:G	F56L	0.993
2:27774435:T:A	V18E	0.989
2:27779451:T:C	F56S	0.987
2:27779445:T:A	V54D	0.985
2:27774447:G:T	S22I	0.984
2:27774522:A:G	D47G	0.983
2:27779458:A:C	E58D	0.983
2:27779458:A:T	E58D	0.983
2:27774483:G:C	R34T	0.982
2:27774488:C:G	R36G	0.981
2:27779457:A:T	E58V	0.980
2:27779456:G:A	E58K	0.977
2:27774459:C:T	T26I	0.976
2:27774452:G:C	A24P	0.974
2:27779450:T:A	F56I	0.974
2:27774489:G:C	R36P	0.973
2:27774441:T:G	M20R	0.969
2:27774510:T:C	L43P	0.969
2:27774523:T:A	D47E	0.969
2:27774523:T:G	D47E	0.969
2:27779451:T:G	F56C	0.969
2:27774447:G:A	S22N	0.967
2:27774504:T:C	L41P	0.967

dbSNP variants (sampled 300 via entrez): RS1000489197 (2:27776693 T>C,G), RS1000779349 (2:27770710 C>T), RS1000803604 (2:27778579 A>G), RS1000898253 (2:27778227 A>G), RS1000931364 (2:27775891 A>G), RS1001938869 (2:27774334 C>G,T), RS1002062615 (2:27778941 A>G,T), RS1002268084 (2:27772151 C>G), RS1002869733 (2:27773746 G>A), RS1003152042 (2:27779305 C>A,T), RS1003467949 (2:27778907 C>T), RS1004600335 (2:27779364 G>A), RS1004805906 (2:27774355 C>A,T), RS1005131497 (2:27772751 A>G,T), RS1005744002 (2:27776183 A>C)

Disease associations

OMIM: gene MIM:610059 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001527_1	Fasting blood glucose (BMI interaction)	1.000000e-15
GCST003048_130	Schizophrenia	4.000000e-08
GCST005186_1	Fasting blood glucose	2.000000e-16
GCST007328_37	Alcohol consumption (drinks per week)	3.000000e-10
GCST007833_3	Urolithiasis	8.000000e-13
GCST008103_38	Bipolar disorder	1.000000e-07
GCST009600_107	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	8.000000e-09
GCST010083_31	Hemoglobin levels	1.000000e-12

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, decreases expression, increases expression, decreases reaction, increases abundance	3
Air Pollutants	affects expression, increases abundance, decreases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
bisphenol F	affects cotreatment, increases expression	1
ginger extract	increases expression, decreases reaction, increases abundance	1
dicrotophos	decreases expression	1
daidzein	affects cotreatment, affects expression	1
triphenyl phosphate	affects expression	1
daidzin	affects cotreatment, affects expression	1
arsenite	affects binding, increases reaction	1
sodium arsenite	affects expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
genistin	affects cotreatment, affects expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
paricalcitol	affects cotreatment, increases expression	1
glycitein	affects cotreatment, affects expression	1
CGP 52608	affects binding, increases reaction	1
glycitin	affects cotreatment, affects expression	1
ICG 001	increases expression	1
abrine	increases expression	1
bisphenol S	affects cotreatment, increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Acetaminophen	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Estradiol	decreases expression	1
Gasoline	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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