TMTC2

Summary

TMTC2 (transmembrane O-mannosyltransferase targeting cadherins 2, HGNC:25440) is a protein-coding gene on chromosome 12q21.31, encoding Protein O-mannosyl-transferase TMTC2 (Q8N394). Transfers mannosyl residues to the hydroxyl group of serine or threonine residues.

The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 160335 — RefSeq curated summary.

At a glance

• Gene–disease (curated): nonsyndromic genetic hearing loss (Disputed, ClinGen) — +1 more curated relationship
• GWAS associations: 39
• Clinical variants (ClinVar): 134 total
• MANE Select transcript: NM_152588

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25440
Approved symbol	TMTC2
Name	transmembrane O-mannosyltransferase targeting cadherins 2
Location	12q21.31
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp762A217
Ensembl gene	ENSG00000179104
Ensembl biotype	protein_coding
OMIM	615856
Entrez	160335

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000321196, ENST00000546590, ENST00000548305, ENST00000549919, ENST00000551915

RefSeq mRNA: 3 — MANE Select: NM_152588 NM_001320321, NM_001320322, NM_152588

CCDS: CCDS81717, CCDS9025

Canonical transcript exons

ENST00000321196 — 12 exons

Exon	Start	End
ENSE00002345996	83132210	83134866
ENSE00003466705	82686906	82687669
ENSE00003468212	82895818	82896646
ENSE00003488842	82857010	82857580
ENSE00003495221	83050904	83051018
ENSE00003514478	83030798	83030879
ENSE00003516732	83061768	83061831
ENSE00003559752	82965560	82965744
ENSE00003568197	82985925	82986046
ENSE00003571540	82966919	82966997
ENSE00003590453	82930431	82930545
ENSE00003652122	82965024	82965109

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 95.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2678 / max 136.9208, expressed in 1505 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
127152	2.2910	1204
127149	2.1169	716
127151	0.8774	305
127150	0.7090	293
127148	0.5986	372
127146	0.5326	234
127153	0.1125	24
127147	0.0297	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ventricular zone	UBERON:0003053	95.22	gold quality
corpus callosum	UBERON:0002336	94.00	gold quality
mucosa of paranasal sinus	UBERON:0005030	93.98	gold quality
oviduct epithelium	UBERON:0004804	93.00	gold quality
ganglionic eminence	UBERON:0004023	91.90	gold quality
caput epididymis	UBERON:0004358	91.63	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.55	gold quality
spinal cord	UBERON:0002240	89.78	gold quality
corpus epididymis	UBERON:0004359	89.12	gold quality
right uterine tube	UBERON:0001302	88.92	gold quality
inferior vagus X ganglion	UBERON:0005363	88.36	gold quality
cauda epididymis	UBERON:0004360	87.82	gold quality
bronchial epithelial cell	CL:0002328	86.58	gold quality
Brodmann (1909) area 46	UBERON:0006483	86.40	gold quality
muscle layer of sigmoid colon	UBERON:0035805	86.24	gold quality
bronchus	UBERON:0002185	85.62	gold quality
substantia nigra	UBERON:0002038	85.43	gold quality
lower lobe of lung	UBERON:0008949	85.34	gold quality
midbrain	UBERON:0001891	84.80	gold quality
stomach	UBERON:0000945	84.65	gold quality
body of stomach	UBERON:0001161	84.56	gold quality
colonic epithelium	UBERON:0000397	84.43	gold quality
lower esophagus mucosa	UBERON:0035834	84.42	gold quality
epithelial cell of pancreas	CL:0000083	84.29	silver quality
gall bladder	UBERON:0002110	83.84	gold quality
smooth muscle tissue	UBERON:0001135	83.81	gold quality
subthalamic nucleus	UBERON:0001906	83.80	gold quality
Ammon’s horn	UBERON:0001954	83.57	gold quality
urinary bladder	UBERON:0001255	83.37	gold quality
medial globus pallidus	UBERON:0002477	83.36	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	110.97
E-HCAD-25	yes	68.80
E-CURD-119	yes	41.33
E-ANND-3	yes	5.90

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

142 targeting TMTC2, 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-1277-5P	100.00	73.95	5056
HSA-MIR-5692A	100.00	74.40	6850
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-128-3P	99.95	71.17	2484

Literature-anchored findings (GeneRIF, showing 6)

• TMTC2 expression induced by HIF-2alpha. (PMID:19386601)
• findings provide an important link between aneuploidy and the stress pathways activated by Aurora B inhibition and also support the use of Aurora B inhibitors in combination therapy for treatment of cancer. (PMID:24764305)
• A previously uncharacterized gene, TMTC2, has been identified as a candidate for causing progressive sensorineural hearing loss in humans. This finding identifies a novel locus that causes autosomal dominant SNHL. (PMID:27311106)
• Polymorphism rs7961953 in TMTC2 gene is not associated with primary open-angle glaucoma. (PMID:30729851)
• Metastasizing pleomorphic adenomas with recurrent PLAG1/HMGA2 gene rearrangements and a novel HMGA2-TMTC2 fusion. (PMID:31094927)
• Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites. (PMID:33436046)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmtc2b	ENSDARG00000035273
mus_musculus	Tmtc2	ENSMUSG00000036019
rattus_norvegicus	Tmtc2	ENSRNOG00000004585
caenorhabditis_elegans		WBGENE00021444

Paralogs (14): IFT88 (ENSG00000032742), TTC7A (ENSG00000068724), TMTC4 (ENSG00000125247), TMTC1 (ENSG00000133687), TMTC3 (ENSG00000139324), TTC6 (ENSG00000139865), BBS4 (ENSG00000140463), TTC13 (ENSG00000143643), OGT (ENSG00000147162), CFAP70 (ENSG00000156042), TTC8 (ENSG00000165533), TTC7B (ENSG00000165914), TTC16 (ENSG00000167094), TTC34 (ENSG00000215912)

Protein

Protein identifiers

Protein O-mannosyl-transferase TMTC2 — Q8N394 (reviewed: Q8N394)

Alternative names: Transmembrane O-mannosyltransferase targeting cadherins 2, Transmembrane and tetratricopeptide repeat-containing 2

All UniProt accessions (4): A0A0B4J253, Q8N394, F8VRQ2, F8VSH2

UniProt curated annotations — full annotation on UniProt →

Function. Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. The 4 members of the TMTC family are O-mannosyl-transferases dedicated primarily to the cadherin superfamily, each member seems to have a distinct role in decorating the cadherin domains with O-linked mannose glycans at specific regions. Also acts as O-mannosyl-transferase on other proteins such as PDIA3.

Subcellular location. Membrane. Endoplasmic reticulum.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the TMTC family.

RefSeq proteins (3): NP_001307250, NP_001307251, NP_689801* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR013618	TMTC_DUF1736	Domain
IPR019734	TPR_rpt	Repeat
IPR052384	TMTC_O-mannosyltransferase	Family

Pfam: PF00515, PF08409, PF13181, PF13424, PF13432

Catalyzed reactions (Rhea), 2 shown:

• a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate + L-seryl-[protein] = 3-O-(alpha-D-mannosyl)-L-seryl-[protein] + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:17377)
• a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate + L-threonyl-[protein] = 3-O-(alpha-D-mannosyl)-L-threonyl-[protein] + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:53396)

UniProt features (34 total): transmembrane region 11, topological domain 10, repeat 9, sequence variant 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N394-F1	90.57	0.83

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 205 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, RRAGTTGT_UNKNOWN, GCANCTGNY_MYOD_Q6, GOZGIT_ESR1_TARGETS_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, NKX61_01, PAX8_B, YGACNNYACAR_UNKNOWN, CATTTCA_MIR203, WANG_LMO4_TARGETS_DN, FOSTER_TOLERANT_MACROPHAGE_UP, chr12q21, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, OCT1_03, WTGAAAT_UNKNOWN

GO Biological Process (3): protein O-linked glycosylation via mannose (GO:0035269), calcium ion homeostasis (GO:0055074), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (4): mannosyltransferase activity (GO:0000030), dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein O-linked glycosylation	1
monoatomic cation homeostasis	1
inorganic ion homeostasis	1
hexosyltransferase activity	1
mannosyltransferase activity	1
protein O-linked glycosylation via mannose	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1764 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMTC2	CANX	P27824	660
TMTC2	ASB7	Q9H672	530
TMTC2	FAXC	Q5TGI0	521
TMTC2	PLXDC2	Q6UX71	480
TMTC2	ERMP1	Q7Z2K6	453
TMTC2	QSER1	Q2KHR3	446
TMTC2	MFSD6	Q6ZSS7	444
TMTC2	DSTYK	Q6XUX3	443
TMTC2	TMCC3	Q9ULS5	439
TMTC2	NUFIP2	Q7Z417	435
TMTC2	DCAF4L2	Q8NA75	431
TMTC2	PTPRQ	Q9UMZ3	430
TMTC2	ZNRD2	O60232	429
TMTC2	USP42	Q9H9J4	419
TMTC2	PBLD	P30039	415

IntAct

15 interactions, top by confidence:

A	B	Type	Score
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.530
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
PCDHGB1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
PCDHB11	CBX4	psi-mi:“MI:0914”(association)	0.350
CDH1	CTNNA2	psi-mi:“MI:0914”(association)	0.350
PCDHB11	SDCBP	psi-mi:“MI:0914”(association)	0.350
CDHR2	HIP1R	psi-mi:“MI:0914”(association)	0.350
PCDHB3	ESYT2	psi-mi:“MI:0914”(association)	0.350
TMEM106A	TMEM131L	psi-mi:“MI:0914”(association)	0.350
PCDHB7	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SDF2L1	MANBA	psi-mi:“MI:0914”(association)	0.350
GGH	MANBA	psi-mi:“MI:0914”(association)	0.350
PTBP3		psi-mi:“MI:0914”(association)	0.350
TMTC2	hpaH	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (16): TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-RNA), TMTC2 (Affinity Capture-RNA), TMTC2 (Affinity Capture-RNA), TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-MS), TMTC2 (Affinity Capture-MS), TMTC2 (Proximity Label-MS)

ESM2 similar proteins: A6X919, A8Y3M2, D4AD75, E2RG47, F1PJP5, F1Q8R9, F1QF89, O13898, O42933, O94335, P31382, P33775, P34413, P42934, P46971, P46977, P47190, P52867, P53868, P54002, Q23361, Q290J8, Q29IL2, Q2KJI2, Q2U0S9, Q3TDQ1, Q3UVK0, Q59X23, Q5A688, Q5ACU3, Q5ADM9, Q5RCE2, Q6F2Z1, Q6NUT2, Q6ZXV5, Q7Z2K6, Q8BGQ4, Q8BRH0, Q8N394, Q8TCJ2

Diamond homologs: Q20144, Q3UV71, Q56A06, Q5T4D3, Q6DCD5, Q6ZXV5, Q7K4B6, Q8BG19, Q8BRH0, Q8IUR5, Q8N394, Q9VF81, Q9VQE9, Q9V3X5, Q6CT48, Q6FM42

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	109
Likely benign	6
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

5379 predictions. Top by Δscore:

Variant	Effect	Δscore
12:82687537:C:A	acceptor_gain	1.0000
12:82687667:CAGG:C	donor_loss	1.0000
12:82687668:AGGT:A	donor_loss	1.0000
12:82687670:GTA:G	donor_loss	1.0000
12:82687671:T:G	donor_loss	1.0000
12:82690377:G:GT	donor_gain	1.0000
12:82918428:T:G	donor_gain	1.0000
12:82929678:G:GT	donor_gain	1.0000
12:82930425:T:TA	acceptor_gain	1.0000
12:82930426:GGCA:G	acceptor_loss	1.0000
12:82930427:GCA:G	acceptor_loss	1.0000
12:82930428:CA:C	acceptor_loss	1.0000
12:82930429:A:AG	acceptor_gain	1.0000
12:82930429:AGC:A	acceptor_loss	1.0000
12:82930429:AGCAT:A	acceptor_gain	1.0000
12:82930430:G:GG	acceptor_gain	1.0000
12:82930430:GC:G	acceptor_gain	1.0000
12:82930430:GCA:G	acceptor_gain	1.0000
12:82930430:GCAT:G	acceptor_gain	1.0000
12:82930430:GCATG:G	acceptor_gain	1.0000
12:82930541:AATTT:A	donor_gain	1.0000
12:82930542:ATTT:A	donor_gain	1.0000
12:82930543:TTT:T	donor_gain	1.0000
12:82930544:TT:T	donor_gain	1.0000
12:82930544:TTG:T	donor_loss	1.0000
12:82930545:TGTG:T	donor_loss	1.0000
12:82930546:G:GA	donor_loss	1.0000
12:82930546:G:GG	donor_gain	1.0000
12:82930547:T:A	donor_loss	1.0000
12:82930548:G:GT	donor_loss	1.0000

AlphaMissense

5489 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:82687663:A:T	D26V	1.000
12:82857074:G:C	D50H	1.000
12:82857075:A:C	D50A	1.000
12:82857075:A:T	D50V	1.000
12:82857080:T:A	W52R	1.000
12:82857080:T:C	W52R	1.000
12:82857082:G:C	W52C	1.000
12:82857082:G:T	W52C	1.000
12:82857083:G:T	G53W	1.000
12:82857110:C:G	H62D	1.000
12:82895920:T:C	F253L	1.000
12:82895922:T:A	F253L	1.000
12:82895922:T:G	F253L	1.000
12:82896041:A:T	D293V	1.000
12:82896043:T:A	W294R	1.000
12:82896043:T:C	W294R	1.000
12:82896412:T:C	F417L	1.000
12:82896414:T:A	F417L	1.000
12:82896414:T:G	F417L	1.000
12:82896425:A:T	E421V	1.000
12:82896592:T:A	W477R	1.000
12:82896592:T:C	W477R	1.000
12:82896594:G:C	W477C	1.000
12:82896594:G:T	W477C	1.000
12:82896643:A:C	K494Q	1.000
12:82896644:A:T	K494I	1.000
12:82896645:A:C	K494N	1.000
12:82896645:A:T	K494N	1.000
12:82930441:C:A	N498K	1.000
12:82930441:C:G	N498K	1.000

dbSNP variants (sampled 300 via entrez): RS1000021391 (12:82744677 T>C), RS1000021888 (12:82772720 A>G,T), RS1000027750 (12:82986880 C>G), RS1000029974 (12:82985841 G>A), RS1000034903 (12:82945482 T>C), RS1000052912 (12:82772461 A>G), RS1000053270 (12:82854752 C>T), RS1000055015 (12:82862702 T>C), RS1000059338 (12:82905851 A>G), RS1000072222 (12:82812757 T>A), RS1000073890 (12:82906059 A>G), RS1000087005 (12:82986133 A>C,G), RS1000088575 (12:82819812 A>G), RS1000091282 (12:82743258 T>C), RS1000092428 (12:82826413 A>G)

Disease associations

OMIM: gene MIM:615856 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Disputed Evidence	Autosomal dominant
hearing loss, autosomal recessive 122	Disputed Evidence	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
nonsyndromic genetic hearing loss	Disputed	AD

Mondo (2): nonsyndromic genetic hearing loss (MONDO:0019497), hearing loss, autosomal recessive 122 (MONDO:0958228)

Orphanet (0):

HPO phenotypes

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

GWAS associations

39 associations (top):

Study	Trait	p-value
GCST000738_2	Neonatal lupus	3.000000e-06
GCST001491_17	Immune response to smallpox vaccine (IL-6)	2.000000e-06
GCST001491_20	Immune response to smallpox vaccine (IL-6)	3.000000e-06
GCST002626_11	Vertical cup-disc ratio	1.000000e-11
GCST002762_14	Optic cup area	4.000000e-08
GCST002762_29	Optic cup area	3.000000e-09
GCST002763_16	Optic disc area	9.000000e-08
GCST002763_7	Optic disc area	1.000000e-09
GCST002764_2	Optic cup area	5.000000e-06
GCST002930_19	Cobalt levels	9.000000e-06
GCST003075_142	Cognitive decline rate in late mild cognitive impairment	6.000000e-07
GCST003075_42	Cognitive decline rate in late mild cognitive impairment	5.000000e-07
GCST003180_1	Atopic march	5.000000e-09
GCST003560_13	Coronary artery aneurysm in Kawasaki disease	3.000000e-06
GCST003833_11	Adult asthma	2.000000e-06
GCST004075_7	Vertical cup-disc ratio	6.000000e-21
GCST004075_8	Vertical cup-disc ratio	7.000000e-23
GCST004076_22	Optic disc area	2.000000e-14
GCST004076_8	Optic disc area	3.000000e-13
GCST004137_21	Optic cup area	6.000000e-15
GCST004137_37	Optic cup area	3.000000e-14
GCST006065_40	Glaucoma (primary open-angle)	2.000000e-09
GCST006479_38	Diverticular disease	4.000000e-06
GCST006979_1070	Heel bone mineral density	7.000000e-10
GCST008163_599	Height	3.000000e-06
GCST009259_6	Amygdala volume	8.000000e-06
GCST009404_16	Optic cup area	6.000000e-17
GCST009411_11	Optic disc area	2.000000e-14
GCST009412_7	Vertical cup-disc ratio	1.000000e-20
GCST009462_72	Optic disc size	2.000000e-29

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0007710	cognitive decline measurement
EFO:0007755	atopic march
EFO:0006939	cup-to-disc ratio measurement
EFO:0009959	diverticular disease
EFO:0009270	heel bone mineral density
EFO:0004612	high density lipoprotein cholesterol measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression	4
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	affects methylation, decreases expression, increases abundance	3
Cisplatin	decreases expression, affects cotreatment	3
bisphenol A	affects cotreatment, increases methylation, increases expression	2
entinostat	decreases expression, affects cotreatment	2
Air Pollutants	increases abundance, increases expression, decreases expression	2
Smoke	decreases expression	2
Valproic Acid	decreases expression	2
Cyclosporine	increases expression, decreases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
benzo(e)pyrene	affects methylation	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	decreases expression, affects cotreatment	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Cidofovir	decreases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Calcitriol	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations