USP43

Summary

USP43 (ubiquitin specific peptidase 43, HGNC:20072) is a protein-coding gene on chromosome 17p13.1, encoding Ubiquitin carboxyl-terminal hydrolase 43 (Q70EL4). May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin.

Predicted to enable ISG15-specific peptidase activity. Predicted to be involved in translesion synthesis. Predicted to be located in nucleoplasm.

Source: NCBI Gene 124739 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 152 total
• MANE Select transcript: NM_153210

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20072
Approved symbol	USP43
Name	ubiquitin specific peptidase 43
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ30626
Ensembl gene	ENSG00000154914
Ensembl biotype	protein_coding
Entrez	124739

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000285199, ENST00000570475, ENST00000570827, ENST00000573955, ENST00000574408, ENST00000575346, ENST00000902328, ENST00000902329, ENST00000936734, ENST00000936735, ENST00000936736, ENST00000936737, ENST00000936738

RefSeq mRNA: 2 — MANE Select: NM_153210 NM_001267576, NM_153210

CCDS: CCDS45610, CCDS58516

Canonical transcript exons

ENST00000285199 — 15 exons

Exon	Start	End
ENSE00002660066	9727954	9729687
ENSE00003545143	9666648	9666751
ENSE00003598549	9656403	9656534
ENSE00003704291	9682823	9682958
ENSE00003704320	9701119	9701245
ENSE00003705137	9680231	9680366
ENSE00003706053	9709956	9710114
ENSE00003706130	9674891	9674983
ENSE00003706449	9711968	9712132
ENSE00003706906	9701352	9701700
ENSE00003708186	9700172	9700249
ENSE00003709051	9676746	9676881
ENSE00003709890	9693127	9693230
ENSE00003710140	9686798	9686909
ENSE00003844122	9645517	9646136

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 95.52.

FANTOM5 (CAGE): breadth broad, TPM avg 2.7188 / max 81.0990, expressed in 611 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
159547	1.6316	461
159546	0.7982	440
208060	0.1630	72
159548	0.1260	73

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	95.52	silver quality
oviduct epithelium	UBERON:0004804	94.51	silver quality
mucosa of paranasal sinus	UBERON:0005030	88.02	gold quality
right uterine tube	UBERON:0001302	85.80	gold quality
epithelial cell of pancreas	CL:0000083	85.26	gold quality
pancreatic ductal cell	CL:0002079	85.16	gold quality
bronchial epithelial cell	CL:0002328	84.35	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	83.86	gold quality
bronchus	UBERON:0002185	83.54	silver quality
upper arm skin	UBERON:0004263	82.65	silver quality
placenta	UBERON:0001987	82.52	gold quality
mucosa of transverse colon	UBERON:0004991	78.86	gold quality
nasal cavity mucosa	UBERON:0001826	78.41	gold quality
amniotic fluid	UBERON:0000173	78.16	gold quality
fallopian tube	UBERON:0003889	78.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.67	gold quality
sperm	CL:0000019	77.07	gold quality
prostate gland	UBERON:0002367	77.07	gold quality
lower esophagus mucosa	UBERON:0035834	77.06	gold quality
palpebral conjunctiva	UBERON:0001812	76.60	silver quality
epithelium of nasopharynx	UBERON:0001951	76.59	gold quality
cardiac muscle of right atrium	UBERON:0003379	76.18	gold quality
nasal cavity epithelium	UBERON:0005384	76.07	silver quality
Brodmann (1909) area 9	UBERON:0013540	76.07	gold quality
right lobe of liver	UBERON:0001114	76.02	gold quality
esophagus mucosa	UBERON:0002469	75.57	gold quality
left ventricle myocardium	UBERON:0006566	75.32	gold quality
kidney epithelium	UBERON:0004819	74.94	silver quality
right frontal lobe	UBERON:0002810	74.88	gold quality
prefrontal cortex	UBERON:0000451	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	7.11

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting USP43, 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-3613-3P	100.00	76.36	7965
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-182-5P	99.87	74.03	2589
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-6871-3P	99.43	68.85	741
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-4699-5P	98.99	67.50	1210
HSA-MIR-382-3P	98.83	67.10	1074
HSA-MIR-4642	97.52	67.60	916
HSA-MIR-558	97.50	67.16	977
HSA-MIR-4695-3P	96.71	67.21	836
HSA-MIR-582-3P	96.69	67.38	1019
HSA-MIR-6813-3P	95.78	63.78	540
HSA-MIR-7976	95.75	65.67	1186
HSA-MIR-659-5P	95.36	65.00	300
HSA-MIR-874-3P	95.02	65.66	806
HSA-MIR-5588-3P	94.96	65.59	500
HSA-MIR-3677-5P	93.16	64.62	393

Literature-anchored findings (GeneRIF, showing 4)

• study identifies USP43 to be an H2BK120 deubiquitinase and a potential tumor suppressor and reveals a reciprocally inhibitory loop between USP43 and EGFR/PI3K/AKT, whose imbalance drives breast carcinogenesis (PMID:30135474)
• Prognostic Value and Oncogenic Effects of Ubiquitin-Specific Protease 43 in Lung Squamous Cell Carcinoma. (PMID:35321978)
• Cav2.2-NFAT2-USP43 axis promotes invadopodia formation and breast cancer metastasis through cortactin stabilization. (PMID:36137995)
• Ubiquitin-Specific Protease 43 Impacts Pancreatic Ductal Adenocarcinoma Prognosis by Altering Its Proliferation and Infiltration of Surrounding Immune Cells. (PMID:37050932)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	usp43b	ENSDARG00000088072
danio_rerio	usp43a	ENSDARG00000103494
mus_musculus	Usp43	ENSMUSG00000020905
rattus_norvegicus	Usp43	ENSRNOG00000003785

Paralogs (71): USP2 (ENSG00000036672), USP28 (ENSG00000048028), USP36 (ENSG00000055483), USP13 (ENSG00000058056), USP33 (ENSG00000077254), USP40 (ENSG00000085982), USP48 (ENSG00000090686), USP14 (ENSG00000101557), USP11 (ENSG00000102226), USP10 (ENSG00000103194), USP31 (ENSG00000103404), USP42 (ENSG00000106346), USP5 (ENSG00000111667), USP4 (ENSG00000114316), USP9Y (ENSG00000114374), USP34 (ENSG00000115464), USP35 (ENSG00000118369), USP45 (ENSG00000123552), USP22 (ENSG00000124422), USP9X (ENSG00000124486), USP6 (ENSG00000129204), USP29 (ENSG00000131864), USP26 (ENSG00000134588), USP30 (ENSG00000135093), USP15 (ENSG00000135655), USP37 (ENSG00000135913), USP44 (ENSG00000136014), USP20 (ENSG00000136878), USP8 (ENSG00000138592), USP3 (ENSG00000140455), USP21 (ENSG00000143258), USP25 (ENSG00000155313), USP16 (ENSG00000156256), USP24 (ENSG00000162402), USP1 (ENSG00000162607), USP49 (ENSG00000164663), USP38 (ENSG00000170185), USP50 (ENSG00000170236), USP47 (ENSG00000170242), USP32 (ENSG00000170832)

Protein

Protein identifiers

Ubiquitin carboxyl-terminal hydrolase 43 — Q70EL4 (reviewed: Q70EL4)

Alternative names: Deubiquitinating enzyme 43, Ubiquitin thioesterase 43, Ubiquitin-specific-processing protease 43

All UniProt accessions (3): Q70EL4, V9GXZ5, V9GZ20

UniProt curated annotations — full annotation on UniProt →

Function. May recognize and hydrolyze the peptide bond at the C-terminal Gly of ubiquitin. Involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins.

Tissue specificity. Expressed in brain, aorta and lung at low levels.

Similarity. Belongs to the peptidase C19 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q70EL4-1	1	yes
Q70EL4-2	2
Q70EL4-3	3
Q70EL4-4	4

RefSeq proteins (2): NP_001254505, NP_694942* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001394	Peptidase_C19_UCH	Domain
IPR018200	USP_CS	Conserved_site
IPR028889	USP	Domain
IPR038765	Papain-like_cys_pep_sf	Homologous_superfamily
IPR050185	Ub_carboxyl-term_hydrolase	Family

Pfam: PF00443

UniProt features (24 total): region of interest 6, compositionally biased region 4, splice variant 4, modified residue 3, sequence conflict 3, active site 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q70EL4-F1	61.33	0.31

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 (2): 110 (nucleophile); 668 (proton acceptor)

Post-translational modifications (3): 746, 969, 1041

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5656169	Termination of translesion DNA synthesis

MSigDB gene sets: 84 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_DN, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_DNA_DAMAGE_TOLERANCE, GOBP_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_REMOVAL, GOMF_CYSTEINE_TYPE_PEPTIDASE_ACTIVITY, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_DNA_BIOSYNTHETIC_PROCESS, REACTOME_DNA_REPAIR, GOBP_DNA_REPLICATION, LIU_SOX4_TARGETS_UP, GOBP_PROTEOLYSIS, GOBP_DNA_METABOLIC_PROCESS, GOMF_PEPTIDASE_ACTIVITY, GOMF_UBIQUITIN_LIKE_PROTEIN_PEPTIDASE_ACTIVITY

GO Biological Process (3): proteolysis (GO:0006508), protein deubiquitination (GO:0016579), translesion synthesis (GO:0019985)

GO Molecular Function (6): cysteine-type deubiquitinase activity (GO:0004843), ISG15-specific peptidase activity (GO:0019785), peptidase activity (GO:0008233), cysteine-type peptidase activity (GO:0008234), hydrolase activity (GO:0016787), ubiquitin-like protein peptidase activity (GO:0019783)

GO Cellular Component (2): nucleoplasm (GO:0005654), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cysteine-type peptidase activity	2
peptidase activity	2
protein metabolic process	1
cysteine-type deubiquitinase activity	1
protein modification by small protein removal	1
DNA damage tolerance	1
DNA synthesis involved in DNA replication	1
deubiquitinase activity	1
ubiquitin-like protein peptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
nuclear lumen	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1156 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
USP43	PAN2	Q504Q3	610
USP43	USP54	Q70EL1	575
USP43	USP39	Q53GS9	505
USP43	OTUD7A	Q8TE49	483
USP43	OTUB1	Q96FW1	482
USP43	UCHL3	P15374	458
USP43	USP30	Q70CQ3	445
USP43	MYSM1	Q5VVJ2	442
USP43	SPINK8	P0C7L1	439
USP43	UCHL1	P09936	432
USP43	USP47	Q96K76	430
USP43	JOSD2	Q8TAC2	429
USP43	OTUD6A	Q7L8S5	426
USP43	USP1	O94782	421
USP43	USP14	P54578	411

IntAct

18 interactions, top by confidence:

A	B	Type	Score
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
USP43	YWHAB	psi-mi:“MI:0914”(association)	0.640
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
SFN	USP43	psi-mi:“MI:0915”(physical association)	0.400
USP43	DKFZP586J0619	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
YWHAQ	MCRIP1	psi-mi:“MI:0914”(association)	0.350
YWHAB	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAG	FOXO6	psi-mi:“MI:0914”(association)	0.350
YWHAH	FOXO6	psi-mi:“MI:0914”(association)	0.350
CREB3L2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (81): CSNK2B (Affinity Capture-MS), DDX11 (Affinity Capture-MS), MAPT (Affinity Capture-MS), NHS (Affinity Capture-MS), POLD1 (Affinity Capture-MS), PSMA2 (Affinity Capture-MS), MRPS12 (Affinity Capture-MS), SSR3 (Affinity Capture-MS), USP1 (Affinity Capture-MS), NCOA4 (Affinity Capture-MS), STX10 (Affinity Capture-MS), CEP57 (Affinity Capture-MS), TXNL4A (Affinity Capture-MS), HAUS5 (Affinity Capture-MS), FTSJ1 (Affinity Capture-MS)

ESM2 similar proteins: A1L3C1, A2AWP8, A2RRU4, A6QM06, A6QNS9, E1BBQ2, F1LQY6, G3V9M2, O43189, O94827, P29372, P29590, P41155, P97260, Q01113, Q02833, Q04841, Q0P5I0, Q12770, Q13387, Q13505, Q29RM4, Q32L49, Q3V1H9, Q5MNU5, Q5R5M3, Q66T02, Q69Z89, Q6GQT6, Q6IPT2, Q6RFZ7, Q6ZN54, Q70EL4, Q7Z6G3, Q8BQB4, Q8C4U2, Q8N1F8, Q8N554, Q8WWW0, Q8WXF8

Diamond homologs: A0A0R4IB93, A0JM59, A5PMR2, A5PN09, A6NNY8, A6QNM7, A7Z056, B1AY13, B1WBD7, D2HBJ8, D6RBM5, E1C213, E7F6T8, E9Q9U0, F6Z5C0, F8VPU6, F8VPZ3, M9PD06, O00507, O22207, O60079, O74442, O94269, O94966, O96612, P0C7I0, P0C8Z3, P0CAQ1, P35125, P39538, P40453, P51784, P53874, P55824, P70398, Q01988, Q09738, Q0V9G5, Q28CN3, Q2HJE4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 17 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
Activation of BAD and translocation to mitochondria	7	355.3×	8e-16
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	313.5×	1e-15
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	313.5×	1e-15
Activation of BH3-only proteins	7	231.7×	1e-14
RHO GTPases activate PKNs	7	148.0×	2e-13
Intrinsic Pathway for Apoptosis	7	136.7×	4e-13
FOXO-mediated transcription	5	112.0×	4e-09
Apoptosis	8	89.6×	2e-13

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	122.1×	3e-08
intracellular protein localization	7	48.9×	6e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	130
Likely benign	12
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

2549 predictions. Top by Δscore:

Variant	Effect	Δscore
17:9646133:CAAGG:C	donor_loss	1.0000
17:9646134:AAG:A	donor_loss	1.0000
17:9646135:AGGTA:A	donor_loss	1.0000
17:9646137:GTAGG:G	donor_loss	1.0000
17:9646138:T:A	donor_loss	1.0000
17:9656398:TTCA:T	acceptor_loss	1.0000
17:9656399:TCA:T	acceptor_loss	1.0000
17:9656401:A:AG	acceptor_gain	1.0000
17:9656402:G:GG	acceptor_gain	1.0000
17:9656402:GA:G	acceptor_gain	1.0000
17:9656402:GAAT:G	acceptor_gain	1.0000
17:9666748:ATAG:A	donor_loss	1.0000
17:9666749:TAGG:T	donor_loss	1.0000
17:9666750:AGG:A	donor_loss	1.0000
17:9666751:GGTAA:G	donor_loss	1.0000
17:9666752:G:GA	donor_loss	1.0000
17:9666753:T:G	donor_loss	1.0000
17:9676858:G:GT	donor_gain	1.0000
17:9680309:GGAGA:G	donor_gain	1.0000
17:9680318:GT:G	donor_gain	1.0000
17:9693121:TCGCA:T	acceptor_loss	1.0000
17:9693122:CGCA:C	acceptor_loss	1.0000
17:9693123:GCA:G	acceptor_loss	1.0000
17:9693124:CAGAA:C	acceptor_loss	1.0000
17:9693125:A:AG	acceptor_gain	1.0000
17:9693126:G:GG	acceptor_gain	1.0000
17:9693126:GA:G	acceptor_gain	1.0000
17:9693126:GAA:G	acceptor_gain	1.0000
17:9693126:GAAC:G	acceptor_gain	1.0000
17:9693126:GAACC:G	acceptor_gain	1.0000

AlphaMissense

7254 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:9645947:C:A	N105K	1.000
17:9645947:C:G	N105K	1.000
17:9646123:C:T	S164F	1.000
17:9646132:T:C	F167S	1.000
17:9646136:G:C	K168N	1.000
17:9646136:G:T	K168N	1.000
17:9656410:T:A	V171D	1.000
17:9701376:T:C	C563R	1.000
17:9710001:A:T	D686V	1.000
17:9710063:T:G	Y707D	1.000
17:9645936:G:C	G102R	0.999
17:9645940:T:C	L103S	0.999
17:9645945:A:G	N105D	0.999
17:9645956:C:A	N108K	0.999
17:9645956:C:G	N108K	0.999
17:9645960:T:C	C110R	0.999
17:9645961:G:A	C110Y	0.999
17:9645962:T:G	C110W	0.999
17:9645963:T:C	F111L	0.999
17:9645965:C:A	F111L	0.999
17:9645965:C:G	F111L	0.999
17:9645971:C:A	N113K	0.999
17:9645971:C:G	N113K	0.999
17:9645984:T:C	C118R	0.999
17:9645986:T:G	C118W	0.999
17:9645988:T:C	L119P	0.999
17:9645990:A:C	S120R	0.999
17:9645992:C:A	S120R	0.999
17:9645992:C:G	S120R	0.999
17:9646095:T:A	W155R	0.999

dbSNP variants (sampled 300 via entrez): RS1000009229 (17:9724342 G>A), RS1000027648 (17:9717118 C>T), RS1000041531 (17:9704363 T>A), RS1000060828 (17:9698361 T>A), RS1000061599 (17:9724507 C>A), RS1000072549 (17:9704100 G>A), RS1000097936 (17:9684571 C>A), RS1000178007 (17:9684808 G>A), RS1000184186 (17:9729875 C>T), RS1000213164 (17:9668455 A>C), RS1000258283 (17:9665126 C>T), RS1000267648 (17:9707729 G>A,C), RS1000284270 (17:9721810 A>C,G), RS1000311548 (17:9724845 G>C), RS1000344398 (17:9688086 C>A,T)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): congenital heart disease (MONDO:0005453)

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST005194_77	Coronary artery disease	4.000000e-06
GCST90011900_153	Serum alkaline phosphatase levels	3.000000e-17
GCST90013406_69	Liver enzyme levels (alkaline phosphatase)	7.000000e-27

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004533	alkaline phosphatase measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	4
entinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Aflatoxin B1	affects expression, decreases expression	2
p-Chloromercuribenzoic Acid	increases expression, affects cotreatment	2
aristolochic acid I	increases expression	1
bisphenol A	decreases methylation	1
beta-lapachone	decreases expression	1
sulforaphane	decreases expression	1
mercuric bromide	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
clothianidin	decreases expression	1
abrine	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
jinfukang	affects cotreatment, decreases expression	1
Leflunomide	increases expression	1
Panobinostat	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases expression	1
Caffeine	decreases phosphorylation	1
Cisplatin	affects cotreatment, decreases expression	1
Diethylhexyl Phthalate	increases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00668824	PHASE4	UNKNOWN	Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705	PHASE4	COMPLETED	Nitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982	PHASE4	COMPLETED	Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679	PHASE4	WITHDRAWN	Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811	PHASE4	UNKNOWN	Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700	PHASE4	COMPLETED	Fibrinogen Concentrate vs Cryoprecipitate
NCT03408340	PHASE4	TERMINATED	Paravertebral Nerve Blocks in Neonates
NCT03630796	PHASE4	UNKNOWN	Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703	PHASE4	COMPLETED	Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761	PHASE4	UNKNOWN	Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389	PHASE4	RECRUITING	Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154	PHASE4	NOT_YET_RECRUITING	Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494	PHASE3	COMPLETED	Management of Patent Ductus in Premature Infants
NCT01134302	PHASE3	UNKNOWN	Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation
NCT01607983	PHASE3	WITHDRAWN	Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients
NCT01662011	PHASE3	UNKNOWN	Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery
NCT02320669	PHASE3	COMPLETED	Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
NCT02615262	PHASE3	COMPLETED	Intraoperative Dexamethasone in Pediatric Cardiac Surgery
NCT03153137	PHASE3	COMPLETED	Clinical Study Assessing the Efficacy and Safety of Macitentan in Fontan-palliated Subjects
NCT03154476	PHASE3	COMPLETED	Role of Sildenafil for Fontan Associated Liver Disease (SiFALD) Study
NCT04536194	PHASE3	COMPLETED	Dopamine Versus Norepinephrine Under General Anesthesia
NCT04702373	PHASE3	ACTIVE_NOT_RECRUITING	Training in Exercise Activities and Motion for Growth (TEAM 4 Growth) RCT
NCT05049590	PHASE3	COMPLETED	Acute Normovolemic Hemodilution in Complex Cardiac Surgery
NCT06406517	PHASE3	UNKNOWN	Comparative Effectiveness of Gadopiclenol for Evaluation of Adult Congenital Heart Anatomy and Hemodynamics
NCT06693674	PHASE3	RECRUITING	Effect of Sacubitril-Valsartan on Cardiac Structure and Function
NCT06955260	PHASE3	NOT_YET_RECRUITING	SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure
NCT00115375	PHASE2	COMPLETED	Platelet Aggregation Inhibition in Children on Clopidogrel (PICOLO)
NCT00350220	PHASE2	COMPLETED	Transfusion Strategies in Pediatric Cardiothoracic Surgery
NCT00374088	PHASE2	COMPLETED	N-Acetylcysteine in Neonatal Congenital Heart Surgery (INACT Study)
NCT00538785	PHASE2	COMPLETED	A Study to Evaluate MEDI-524 In Children With Hemodynamically Significant Congenital Heart Disease
NCT00770705	PHASE2	WITHDRAWN	Parenteral Phenoxybenzamine During Congenital Heart Disease Surgery
NCT00919945	PHASE2	TERMINATED	Impact of Early Enteral Feeding on Splanchnic Blood Flow After Surgery for Critical Heart Disease in the Newborn
NCT01063712	PHASE2	COMPLETED	Safety and Effectiveness of the Device Nit-Occlud® PDA-R
NCT01069510	PHASE2	COMPLETED	Spironolactone in Adult Congenital Heart Disease
NCT01189981	PHASE2	COMPLETED	Effect of eHealth Encouragements to Intensive Exercise in Adolescents With Congenital Heart Disease
NCT01330433	PHASE2	COMPLETED	Effects of CoSeal on Bleeding & Adhesions in Pediatric Heart Surgery
NCT01662037	PHASE2	COMPLETED	Bosentan Therapy in Children With Functional Single Ventricle
NCT01668264	PHASE2	UNKNOWN	Imaging Assessment of Diastolic Function
NCT01827059	PHASE2	UNKNOWN	Bosentan In Exercise Induced Pulmonary Arterial Hypertension in CongenitaL Heart diseasE