TGFBRAP1

Summary

TGFBRAP1 (transforming growth factor beta receptor associated protein 1, HGNC:16836) is a protein-coding gene on chromosome 2q12.1-q12.2, encoding Transforming growth factor-beta receptor-associated protein 1 (Q8WUH2). Plays a role in the TGF-beta/activin signaling pathway.

This gene encodes a protein that binds to transforming growth factor-beta (TGF-beta) receptors and plays a role in TGF-beta signaling. The encoded protein acts as a chaprone in signaling downstream of TGF-beta. It is involved in signal-dependent association with SMAD4. The protein is also a component of mammalian CORVET, a multisubunit tethering protein complex that is involved in fusion of early endosomes.

Source: NCBI Gene 9392 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 130 total
• MANE Select transcript: NM_004257

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16836
Approved symbol	TGFBRAP1
Name	transforming growth factor beta receptor associated protein 1
Location	2q12.1-q12.2
Locus type	gene with protein product
Status	Approved
Aliases	TRAP-1, TRAP1, VPS3
Ensembl gene	ENSG00000135966
Ensembl biotype	protein_coding
OMIM	606237
Entrez	9392

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

ENST00000393359, ENST00000595531, ENST00000880272, ENST00000880273, ENST00000911279, ENST00000911280, ENST00000969269

RefSeq mRNA: 3 — MANE Select: NM_004257 NM_001142621, NM_001328646, NM_004257

CCDS: CCDS2067

Canonical transcript exons

ENST00000393359 — 12 exons

Exon	Start	End
ENSE00000921878	105269272	105269705
ENSE00000921879	105272855	105273014
ENSE00000921880	105273544	105273690
ENSE00000921886	105298511	105298705
ENSE00001515023	105307614	105308318
ENSE00001515024	105329625	105329735
ENSE00001790968	105264414	105267559
ENSE00002432395	105296356	105296510
ENSE00002434432	105284316	105284398
ENSE00002459818	105277614	105277671
ENSE00002494686	105280382	105280723
ENSE00002513021	105275560	105275703

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 87.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.4356 / max 82.5033, expressed in 1710 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
30020	5.1902	1695
30021	0.2454	92

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	87.79	gold quality
middle temporal gyrus	UBERON:0002771	84.18	gold quality
stromal cell of endometrium	CL:0002255	83.83	gold quality
parotid gland	UBERON:0001831	83.61	gold quality
body of stomach	UBERON:0001161	83.43	gold quality
tibialis anterior	UBERON:0001385	83.38	silver quality
cortical plate	UBERON:0005343	83.25	gold quality
gastrocnemius	UBERON:0001388	82.69	gold quality
muscle of leg	UBERON:0001383	82.46	gold quality
skin of hip	UBERON:0001554	81.87	gold quality
monocyte	CL:0000576	81.75	gold quality
oocyte	CL:0000023	81.71	gold quality
leukocyte	CL:0000738	81.59	gold quality
mononuclear cell	CL:0000842	81.57	gold quality
stomach	UBERON:0000945	81.33	gold quality
deltoid	UBERON:0001476	81.10	silver quality
ventricular zone	UBERON:0003053	80.83	gold quality
granulocyte	CL:0000094	80.81	gold quality
mucosa of stomach	UBERON:0001199	80.69	gold quality
Brodmann (1909) area 23	UBERON:0013554	80.58	gold quality
skin of leg	UBERON:0001511	80.41	gold quality
ganglionic eminence	UBERON:0004023	80.20	gold quality
popliteal artery	UBERON:0002250	80.19	gold quality
tibial artery	UBERON:0007610	80.19	gold quality
islet of Langerhans	UBERON:0000006	79.74	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.72	gold quality
right coronary artery	UBERON:0001625	79.69	gold quality
right adrenal gland cortex	UBERON:0035827	79.63	gold quality
upper leg skin	UBERON:0004262	79.53	gold quality
left adrenal gland	UBERON:0001234	79.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.26

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): NCOR1, PPARA, PPARG

miRNA regulators (miRDB)

111 targeting TGFBRAP1, 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-4262	100.00	73.26	3931
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-493-5P	99.96	72.47	2382
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-LET-7C-3P	99.95	73.42	2862
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-6744-5P	99.93	66.82	748
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-6857-5P	99.87	65.32	985
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-8080	99.82	67.52	1342
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440

Literature-anchored findings (GeneRIF, showing 5)

• In the absence of Langerhans cells (LC), contact hypersensitivity (CHS) reactions in langerin-positive dendritic cell-specific TGF-betaR1-deficient mice are diminished, providing further evidence against a regulatory role for LC in CHS. (PMID:21998450)
• the association of rs2679860 polymorphisms of TGFBRAP1 and DBP variation as well as plasma levels of TGF-beta1 (PMID:25856002)
• MFSD2B, CCL20 and STAT1, or STARD7 and ZNF512 genes may be risk or protect factors in prognosis of ADC; HTR2B, DPP4, and TGFBRAP1 genes may be risk factors in prognosis of SQC. (PMID:27301951)
• Vps3 and Vps8 are required for recycling of beta1 integrins. (PMID:29476049)
• Findings suggest that genetic polymorphisms of TGF-beta1 receptor-associated protein 1 (TGFBRAP1) may contribute to the genetic susceptibility of type 2 diabetes mellitus (T2DM) by mediating diabetes-related miRNA expression. (PMID:30461200)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tgfbrap1	ENSDARG00000061508
mus_musculus	Tgfbrap1	ENSMUSG00000070939
rattus_norvegicus	Tgfbrap1	ENSRNOG00000024562

Paralogs (1): VPS39 (ENSG00000166887)

Protein

Protein identifiers

Transforming growth factor-beta receptor-associated protein 1 — Q8WUH2 (reviewed: Q8WUH2)

All UniProt accessions (1): Q8WUH2

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the TGF-beta/activin signaling pathway. It associates with inactive heteromeric TGF-beta and activin receptor complexes, mainly through the type II receptor, and is released upon activation of signaling. May recruit SMAD4 to the vicinity of the receptor complex and facilitate its interaction with receptor-regulated Smads, such as SMAD2. Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations. Functions predominantly in APPL1-containing endosomes and in degradative but not recycling trafficking of endocytosed cargo.

Subunit / interactions. Interacts with TGFBR2 and ACVR2B; in the absence of ligand stimulation. Interacts with TGFBR1, ACVRL1, BMPR1A and ACVR1B; in the absence of ligand stimulation and to a less extent. Interacts with SMAD4; the interaction seems to be mutually exclusive with the interaction of SMAD4 and phosphorylated SMAD2. May interact with ALOX5. Interacts with RAB5C. Interacts with VPS8, VPS11 and VPS16. Component of the putative class C core vacuole/endosome tethering (CORVET) complex; the core of which composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, is associated with VPS8 and TGFBRAP1.

Subcellular location. Cytoplasm. Early endosome.

Similarity. Belongs to the TRAP1 family.

RefSeq proteins (3): NP_001136093, NP_001315575, NP_004248* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000547	Clathrin_H-chain/VPS_repeat	Repeat
IPR001180	CNH_dom	Domain
IPR019452	VPS39/TGF_beta_rcpt-assoc_1	Domain
IPR019453	VPS39/TGFA1_Znf	Domain
IPR032914	Vam6/VPS39/TRAP1	Family

Pfam: PF00780, PF10366, PF10367

UniProt features (5 total): chain 1, domain 1, repeat 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUH2-F1	87.47	0.48

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 347 (showing top): ATF_B, WANG_CLIM2_TARGETS_UP, SHIPP_DLBCL_VS_FOLLICULAR_LYMPHOMA_UP, GOBP_LYSOSOMAL_TRANSPORT, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, RORA1_01, GOBP_VESICLE_ORGANIZATION, CMYB_01, GOBP_NEGATIVE_REGULATION_OF_REACTIVE_OXYGEN_SPECIES_METABOLIC_PROCESS, chr2q12, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_ENDOSOME_TO_LYSOSOME_TRANSPORT, GOBP_MEMBRANE_FUSION, GOBP_VACUOLAR_TRANSPORT, CREBP1_Q2

GO Biological Process (10): regulation of DNA-templated transcription (GO:0006355), intracellular protein transport (GO:0006886), autophagy (GO:0006914), signal transduction (GO:0007165), transforming growth factor beta receptor signaling pathway (GO:0007179), endosome to lysosome transport (GO:0008333), endosomal vesicle fusion (GO:0034058), regulation of SNARE complex assembly (GO:0035542), protein transport (GO:0015031), vesicle-mediated transport (GO:0016192)

GO Molecular Function (3): transforming growth factor beta receptor binding (GO:0005160), SMAD binding (GO:0046332), protein binding (GO:0005515)

GO Cellular Component (6): cytoplasm (GO:0005737), early endosome (GO:0005769), membrane (GO:0016020), CORVET complex (GO:0033263), endosome (GO:0005768), endomembrane system (GO:0012505)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular protein localization	2
cellular process	2
transport	2
endosome	2
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
protein transport	1
intracellular transport	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
cell communication	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular response to transforming growth factor beta stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
lysosomal transport	1
intercellular transport	1
vesicle-mediated transport	1
vesicle fusion	1
SNARE complex assembly	1
regulation of protein-containing complex assembly	1
establishment of protein localization	1
cytokine receptor binding	1
protein binding	1
binding	1
intracellular anatomical structure	1
vesicle tethering complex	1
endomembrane system	1
cytoplasmic vesicle	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

1648 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TGFBRAP1	VPS8	Q8N3P4	999
TGFBRAP1	VPS16	Q9H269	947
TGFBRAP1	VPS11	Q9H270	937
TGFBRAP1	VPS18	Q9P253	932
TGFBRAP1	CHMP2A	O43633	857
TGFBRAP1	RAB5A	P20339	854
TGFBRAP1	VPS33A	Q96AX1	796
TGFBRAP1	RASGEF1A	Q8N9B8	790
TGFBRAP1	SBNO1	A3KN83	789
TGFBRAP1	VPS45	Q9NRW7	789
TGFBRAP1	RIOX1	Q9H6W3	777
TGFBRAP1	RIOK1	Q9BRS2	776
TGFBRAP1	SMAD4	Q13485	753
TGFBRAP1	VPS39	Q96JC1	726
TGFBRAP1	PSMD2	Q13200	716

IntAct

70 interactions, top by confidence:

A	B	Type	Score
TGFBRAP1	VPS11	psi-mi:“MI:0915”(physical association)	0.850
VPS11	TGFBRAP1	psi-mi:“MI:0914”(association)	0.850
TGFBRAP1	VPS16	psi-mi:“MI:0915”(physical association)	0.800
TGFBRAP1	VPS8	psi-mi:“MI:0915”(physical association)	0.740
EEA1	RAB5C	psi-mi:“MI:0403”(colocalization)	0.730
TGFBRAP1	ACVR1	psi-mi:“MI:0914”(association)	0.730
VPS11	VPS41	psi-mi:“MI:0914”(association)	0.710
TMEM266	KDM1A	psi-mi:“MI:0914”(association)	0.670
LTO1	ABCE1	psi-mi:“MI:0914”(association)	0.640
DYDC2	INPPL1	psi-mi:“MI:0914”(association)	0.560
NRBF2	GALT	psi-mi:“MI:0914”(association)	0.530
ACVR1	BMPR1A	psi-mi:“MI:0914”(association)	0.530
SAMTOR	PER1	psi-mi:“MI:0914”(association)	0.530
TGFBRAP1	VPS41	psi-mi:“MI:0914”(association)	0.530
CCDC127	CETN3	psi-mi:“MI:0914”(association)	0.530
RNF7	SOCS7	psi-mi:“MI:0914”(association)	0.530
RAB5C	TGFBRAP1	psi-mi:“MI:0915”(physical association)	0.460
RAB5C	TGFBRAP1	psi-mi:“MI:0403”(colocalization)	0.460
CCDC110	TGFBRAP1	psi-mi:“MI:0915”(physical association)	0.400
VPS18	SRRM1	psi-mi:“MI:0914”(association)	0.350
VPS16	IPO7	psi-mi:“MI:0914”(association)	0.350
Vps41	TGFBRAP1	psi-mi:“MI:0914”(association)	0.350
VPS11	GTF2I	psi-mi:“MI:0914”(association)	0.350
VPS18	DNAJB5	psi-mi:“MI:0914”(association)	0.350
VPS16	TTC31	psi-mi:“MI:0914”(association)	0.350
ARFGAP1	POTEF	psi-mi:“MI:0914”(association)	0.350
SAMTOR	MIF4GD	psi-mi:“MI:0914”(association)	0.350

BioGRID (81): TGFBRAP1 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-Western), TGFBRAP1 (Affinity Capture-Western), TGFBRAP1 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-Western), TGFBRAP1 (Affinity Capture-Western), TGFBRAP1 (Affinity Capture-Western), TGFBRAP1 (Affinity Capture-MS), TGFBRAP1 (Affinity Capture-MS)

ESM2 similar proteins: A2TF48, A5HNF6, A8QMS7, B3SRQ2, B3Y678, B3Y679, B3Y680, B3Y681, B3Y682, B3Y683, B6CJX2, C8BKC7, F1QWA8, I3L5V6, O02697, O88879, P0CI65, P22366, P42338, P48736, P52735, Q13158, Q28DJ2, Q3UR70, Q3V3E1, Q4LBC6, Q599T9, Q5FWM2, Q5XJ85, Q60992, Q61160, Q645M6, Q6AZT7, Q6Y1S1, Q7TNH6, Q7Z494, Q7ZYP6, Q803A6, Q8BGG7, Q8BTI9

Diamond homologs: A4IG72, A7MB11, Q3UR70, Q8WUH2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TGFBRAP1	“form complex”	“CORVET tethering complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 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
endosomal vesicle fusion	5	79.1×	9e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	9
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1683 predictions. Top by Δscore:

Variant	Effect	Δscore
2:105269267:CTTA:C	donor_loss	1.0000
2:105269271:C:CT	donor_loss	1.0000
2:105272848:T:TA	donor_gain	1.0000
2:105272849:CCTCA:C	donor_loss	1.0000
2:105272850:CTCAC:C	donor_loss	1.0000
2:105272851:TCACC:T	donor_loss	1.0000
2:105272853:A:AT	donor_loss	1.0000
2:105273013:TTCT:T	acceptor_loss	1.0000
2:105273539:CTCA:C	donor_loss	1.0000
2:105273540:TCA:T	donor_loss	1.0000
2:105273541:CA:C	donor_loss	1.0000
2:105273543:C:CT	donor_loss	1.0000
2:105275558:AC:A	donor_loss	1.0000
2:105275559:CCT:C	donor_gain	1.0000
2:105275559:CCTCT:C	donor_gain	1.0000
2:105275699:CACAA:C	acceptor_gain	1.0000
2:105275700:ACAA:A	acceptor_gain	1.0000
2:105275701:CAA:C	acceptor_gain	1.0000
2:105275701:CAAC:C	acceptor_gain	1.0000
2:105275702:AA:A	acceptor_gain	1.0000
2:105275702:AAC:A	acceptor_loss	1.0000
2:105275703:AC:A	acceptor_loss	1.0000
2:105275704:C:CC	acceptor_gain	1.0000
2:105275716:C:CT	acceptor_gain	1.0000
2:105275717:A:T	acceptor_gain	1.0000
2:105277669:TAC:T	acceptor_gain	1.0000
2:105277671:CCT:C	acceptor_loss	1.0000
2:105277672:CT:C	acceptor_loss	1.0000
2:105277673:T:C	acceptor_loss	1.0000
2:105280378:TCA:T	donor_loss	1.0000

AlphaMissense

5637 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:105284367:C:T	G357E	0.999
2:105298585:A:T	V270D	0.999
2:105298658:A:G	W246R	0.999
2:105298658:A:T	W246R	0.999
2:105307639:G:C	F221L	0.999
2:105307639:G:T	F221L	0.999
2:105307640:A:G	F221S	0.999
2:105307641:A:G	F221L	0.999
2:105307664:A:T	V213D	0.999
2:105307754:G:T	A183D	0.999
2:105307759:A:C	C181W	0.999
2:105307761:A:G	C181R	0.999
2:105280550:A:G	L432P	0.998
2:105284371:C:G	A356P	0.998
2:105298615:A:T	V260D	0.998
2:105298685:C:A	G237W	0.998
2:105307637:A:G	L222P	0.998
2:105307740:A:C	Y188D	0.998
2:105308030:A:G	L91P	0.998
2:105308183:C:T	G40D	0.998
2:105275700:A:G	W509R	0.997
2:105275700:A:T	W509R	0.997
2:105280481:A:G	L455P	0.997
2:105280487:A:G	L453P	0.997
2:105280562:A:G	L428P	0.997
2:105284368:C:G	G357R	0.997
2:105284368:C:T	G357R	0.997
2:105296498:A:T	V299D	0.997
2:105298684:C:T	G237E	0.997
2:105298698:A:C	F232L	0.997

dbSNP variants (sampled 300 via entrez): RS1000056095 (2:105265433 C>T), RS1000065101 (2:105261211 T>C), RS1000100496 (2:105299299 A>G), RS1000144095 (2:105311579 T>A), RS1000153035 (2:105259935 A>G), RS1000154257 (2:105299077 T>C), RS1000170890 (2:105265266 C>G,T), RS1000286696 (2:105329813 C>T), RS1000359347 (2:105287365 T>C,G), RS1000364871 (2:105311400 T>C), RS1000374839 (2:105281847 T>A,C), RS1000407282 (2:105299980 A>C,G), RS1000441466 (2:105260206 C>T), RS1000530233 (2:105310153 A>C), RS1000545809 (2:105303684 T>C)

Disease associations

OMIM: gene MIM:606237 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): long QT syndrome (MONDO:0002442)

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000487_2	AIDS	7.000000e-06
GCST001762_884	Obesity-related traits	6.000000e-06
GCST001949_18	Preeclampsia	4.000000e-06
GCST003993_33	Menarche (age at onset)	2.000000e-11
GCST005951_42	Body mass index	1.000000e-08
GCST008595_67	Cognitive ability, years of educational attainment or schizophrenia (pleiotropy)	7.000000e-09
GCST011122_35	Walking pace	5.000000e-08
GCST90006997_1	Gut microbiota relative abundance (Coprococcus)	4.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0005118	IGFBP-1 measurement
EFO:0004703	age at menarche
EFO:0004340	body mass index
EFO:0004337	intelligence
EFO:0004784	self reported educational attainment
EFO:0007874	gut microbiome measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases methylation, increases expression, increases methylation	3
(+)-JQ1 compound	affects expression, increases reaction, decreases expression	2
Estradiol	affects expression, increases expression	2
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
ICG 001	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Zoledronic Acid	increases expression	1
Panobinostat	affects expression, increases reaction	1
Atrazine	decreases expression	1
Hydrogen Peroxide	increases expression	1
Methapyrilene	increases methylation	1
Tetrachlorodibenzodioxin	affects expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Valproic Acid	affects expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cadmium Chloride	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT01648205	PHASE2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	PHASE2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	PHASE2	COMPLETED	Mutation-specific Therapy for the Long QT Syndrome
NCT00316459	PHASE1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	PHASE1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	PHASE1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	PHASE1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
NCT05906732	PHASE1/PHASE2	TERMINATED	Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2).
NCT00005176	Not specified	COMPLETED	Long QT Syndrome-Population Genetics and Cardiac Studies
NCT00005250	Not specified	COMPLETED	Linkage Study of Long QT Syndrome In An Amish Kindred
NCT00005367	Not specified	COMPLETED	Epidemiology of Long QTand Asian Sudden Death in Sleep
NCT00221832	Not specified	UNKNOWN	Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
NCT00292032	Not specified	COMPLETED	Registry of Unexplained Cardiac Arrest
NCT00335036	Not specified	TERMINATED	Pediatric Lead Extractability and Survival Evaluation (PLEASE)
NCT00399412	Not specified	COMPLETED	ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients
NCT00488254	Not specified	COMPLETED	The Long QT Syndrome in Pregnancy
NCT00588965	Not specified	COMPLETED	Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects
NCT01705925	Not specified	COMPLETED	Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome
NCT01903564	Not specified	COMPLETED	Fetal and Neonatal Magnetophysiology
NCT02082431	Not specified	COMPLETED	Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
NCT02413450	Not specified	ENROLLING_BY_INVITATION	Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
NCT02425189	Not specified	COMPLETED	The Canadian National Long QT Syndrome Registry
NCT02439645	Not specified	TERMINATED	A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes
NCT02439658	Not specified	UNKNOWN	Genetics of QT Prolongation With Antiarrhythmics
NCT02549664	Not specified	COMPLETED	Exercise in Genetic Cardiovascular Conditions
NCT02581241	Not specified	COMPLETED	Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome
NCT02680080	Not specified	COMPLETED	Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome
NCT02775513	Not specified	UNKNOWN	Metabolism of Patients With Genetically Caused Cardiac Arrhythmia
NCT02814981	Not specified	UNKNOWN	Hydroxyzine and Risk of Prolongation of QT Interval
NCT02876380	Not specified	COMPLETED	Prospective Identification of Long QT Syndrome in Fetal Life
NCT03182777	Not specified	COMPLETED	Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies
NCT03544918	Not specified	COMPLETED	Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort
NCT03642405	Not specified	UNKNOWN	Drug-induced Repolarization ECG Changes
NCT03678311	Not specified	COMPLETED	Long QT Syndrome and Sleep Apnea