JMJD4

Summary

JMJD4 (jumonji domain containing 4, HGNC:25724) is a protein-coding gene on chromosome 1q42.13, encoding 2-oxoglutarate and iron-dependent oxygenase JMJD4 (Q9H9V9). Catalyzes the 2-oxoglutarate and iron-dependent C4-lysyl hydroxylation of ETF1 at ‘Lys-63’ thereby promoting the translational termination efficiency of ETF1.

Enables peptidyl-lysine 4-dioxygenase activity. Involved in positive regulation of translational termination and protein hydroxylation. Located in cytoplasm.

Source: NCBI Gene 65094 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 123 total
• MANE Select transcript: NM_023007

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25724
Approved symbol	JMJD4
Name	jumonji domain containing 4
Location	1q42.13
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12517
Ensembl gene	ENSG00000081692
Ensembl biotype	protein_coding
OMIM	620928
Entrez	65094

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 16 protein_coding, 3 retained_intron

ENST00000438896, ENST00000465251, ENST00000480590, ENST00000485807, ENST00000620518, ENST00000857554, ENST00000857555, ENST00000857556, ENST00000857557, ENST00000857558, ENST00000857559, ENST00000857560, ENST00000857561, ENST00000857562, ENST00000857563, ENST00000972390, ENST00000972391, ENST00000972392, ENST00000972393

RefSeq mRNA: 2 — MANE Select: NM_023007 NM_001161465, NM_023007

CCDS: CCDS1561, CCDS59203

Canonical transcript exons

ENST00000620518 — 6 exons

Exon	Start	End
ENSE00000656184	227733414	227733681
ENSE00000656185	227732881	227733027
ENSE00003470380	227734651	227734816
ENSE00003616824	227733907	227734032
ENSE00003715063	227735012	227735302
ENSE00003745451	227731191	227732676

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 87.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.8276 / max 189.4281, expressed in 1802 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17800	18.8276	1802

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left adrenal gland cortex	UBERON:0035825	87.64	gold quality
left adrenal gland	UBERON:0001234	87.10	gold quality
right adrenal gland	UBERON:0001233	86.46	gold quality
right adrenal gland cortex	UBERON:0035827	86.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.32	gold quality
adrenal cortex	UBERON:0001235	85.15	gold quality
adrenal gland	UBERON:0002369	84.57	gold quality
apex of heart	UBERON:0002098	84.34	gold quality
left ovary	UBERON:0002119	84.34	gold quality
right ovary	UBERON:0002118	84.08	gold quality
adenohypophysis	UBERON:0002196	84.03	gold quality
right lobe of liver	UBERON:0001114	83.62	gold quality
left testis	UBERON:0004533	83.61	gold quality
right testis	UBERON:0004534	83.15	gold quality
left uterine tube	UBERON:0001303	82.80	gold quality
gastrocnemius	UBERON:0001388	82.21	gold quality
mucosa of transverse colon	UBERON:0004991	81.59	gold quality
stromal cell of endometrium	CL:0002255	81.57	gold quality
pituitary gland	UBERON:0000007	81.54	gold quality
muscle of leg	UBERON:0001383	81.44	gold quality
prefrontal cortex	UBERON:0000451	81.42	gold quality
right frontal lobe	UBERON:0002810	81.26	gold quality
body of uterus	UBERON:0009853	81.22	gold quality
right atrium auricular region	UBERON:0006631	81.11	gold quality
anterior cingulate cortex	UBERON:0009835	80.99	gold quality
testis	UBERON:0000473	80.91	gold quality
cingulate cortex	UBERON:0003027	80.88	gold quality
body of stomach	UBERON:0001161	80.51	gold quality
body of pancreas	UBERON:0001150	80.45	gold quality
granulocyte	CL:0000094	80.44	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting JMJD4, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-4318	99.38	66.94	1505
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-3176	99.25	64.35	954
HSA-MIR-3922-3P	99.25	64.96	1136
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-922	99.02	67.23	1838
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-3130-5P	98.14	66.00	711

Literature-anchored findings (GeneRIF, showing 2)

• It observed significant positivity of JMJD4 between 59 paired samples from colon adenocarcinoma (CA) tissue and adjacent normal tissue. JMJD4 protein expression in CA differed significantly according to the histological grade and M-class (distant metastasis). (PMID:30029884)
• Jmjd4 Facilitates Pkm2 Degradation in Cardiomyocytes and Is Protective Against Dilated Cardiomyopathy. (PMID:37066795)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	jmjd4	ENSDARG00000058995
mus_musculus	Jmjd4	ENSMUSG00000036819
rattus_norvegicus	Jmjd4	ENSRNOG00000022438
drosophila_melanogaster	JMJD4	FBGN0032671
caenorhabditis_elegans		WBGENE00011563

Paralogs (2): JMJD6 (ENSG00000070495), JMJD8 (ENSG00000161999)

Protein

Protein identifiers

2-oxoglutarate and iron-dependent oxygenase JMJD4 — Q9H9V9 (reviewed: Q9H9V9)

Alternative names: JmjC domain-containing protein 4, Jumonji domain-containing protein 4, Lysyl-hydroxylase JMJD4

All UniProt accessions (1): Q9H9V9

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the 2-oxoglutarate and iron-dependent C4-lysyl hydroxylation of ETF1 at ‘Lys-63’ thereby promoting the translational termination efficiency of ETF1.

Subunit / interactions. Interacts with ETF1. Interacts with the ETF1-GSPT1 complex.

Subcellular location. Cytoplasm.

Similarity. Belongs to the JMJD6 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H9V9-3	3	yes
Q9H9V9-1	1
Q9H9V9-2	2

RefSeq proteins (2): NP_001154937, NP_075383* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003347	JmjC_dom	Domain
IPR050910	JMJD6_ArgDemeth/LysHydrox	Family

Pfam: PF02373

Catalyzed reactions (Rhea), 1 shown:

• L-lysyl-[protein] + 2-oxoglutarate + O2 = 4-hydroxy-L-lysyl-[protein] + succinate + CO2 (RHEA:57156)

UniProt features (13 total): sequence variant 3, binding site 3, sequence conflict 2, splice variant 2, chain 1, domain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H9V9-F1	94.04	0.89

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (3): 189; 191; 269

Mutagenesis-validated functional residues (1):

Position	Phenotype
189	loss of interaction with etf1 and its ability to hydroxylate etf1.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-9629569	Protein hydroxylation
R-HSA-163841	Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 123 (showing top): GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_PAIRED_DONORS_WITH_INCORPORATION_OR_REDUCTION_OF_MOLECULAR_OXYGEN, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, GOBP_TRANSLATIONAL_TERMINATION, PATIL_LIVER_CANCER, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_PEPTIDYL_LYSINE_MODIFICATION, DODD_NASOPHARYNGEAL_CARCINOMA_UP, MODULE_397, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_DISASSEMBLY, GOBP_PROTEIN_HYDROXYLATION, GOBP_POSITIVE_REGULATION_OF_TRANSLATION, NUYTTEN_EZH2_TARGETS_DN, GOBP_REGULATION_OF_TRANSLATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS

GO Biological Process (3): protein hydroxylation (GO:0018126), positive regulation of translational termination (GO:0045905), regulation of gene expression (GO:0010468)

GO Molecular Function (8): 2-oxoglutarate-dependent dioxygenase activity (GO:0016706), sequence-specific DNA binding (GO:0043565), metal ion binding (GO:0046872), peptidyl-lysine 4-dioxygenase activity (GO:0106156), protein binding (GO:0005515), oxidoreductase activity (GO:0016491), dioxygenase activity (GO:0051213), catalytic activity, acting on a protein (GO:0140096)

GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation	1
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
catalytic activity	2
cellular anatomical structure	2
protein modification process	1
translational termination	1
regulation of translational termination	1
positive regulation of protein-containing complex disassembly	1
positive regulation of translation	1
gene expression	1
regulation of macromolecule biosynthetic process	1
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	1
dioxygenase activity	1
DNA binding	1
cation binding	1
2-oxoglutarate-dependent dioxygenase activity	1
catalytic activity, acting on a protein	1
binding	1
oxidoreductase activity	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

736 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
JMJD4	ALKBH1	Q13686	965
JMJD4	ALKBH5	Q6P6C2	883
JMJD4	ALKBH6	Q3KRA9	872
JMJD4	ALKBH4	Q9NXW9	870
JMJD4	ALKBH7	Q9BT30	864
JMJD4	ALKBH2	Q6NS38	852
JMJD4	RIOX1	Q9H6W3	737
JMJD4	HSPBAP1	Q96EW2	707
JMJD4	RIOX2	Q8IUF8	703
JMJD4	TYW5	A2RUC4	697
JMJD4	OGFOD1	Q8N543	679
JMJD4	ALKBH3	Q96Q83	625
JMJD4	C9K0I3	C9K0I3	558
JMJD4	ALKBH8	Q96BT7	557
JMJD4	ETF1	P46055	541

IntAct

44 interactions, top by confidence:

A	B	Type	Score
FAM9C	NDC80	psi-mi:“MI:0914”(association)	0.670
SOCS7	NCK2	psi-mi:“MI:0914”(association)	0.670
PDCL3	PEX7	psi-mi:“MI:0914”(association)	0.640
CCT3	TXNDC9	psi-mi:“MI:0914”(association)	0.640
ODAPH	TCAF2	psi-mi:“MI:0914”(association)	0.530
CCNJL	PIK3C2A	psi-mi:“MI:0914”(association)	0.530
JMJD4	H4C16	psi-mi:“MI:0871”(demethylation reaction)	0.440
ERBB2	JMJD4	psi-mi:“MI:0915”(physical association)	0.370
JMJD4	SPAG8	psi-mi:“MI:0915”(physical association)	0.370
JMJD4	SPTLC1	psi-mi:“MI:0914”(association)	0.350
CDC16	IFT56	psi-mi:“MI:0914”(association)	0.350
SPANXN4	UBA6	psi-mi:“MI:0914”(association)	0.350
IQCN	TARS3	psi-mi:“MI:0914”(association)	0.350
DUSP16	MEIOC	psi-mi:“MI:0914”(association)	0.350
TAFA3	FUOM	psi-mi:“MI:0914”(association)	0.350
CCT2	WDR91	psi-mi:“MI:0914”(association)	0.350
KANSL3	POTEF	psi-mi:“MI:0914”(association)	0.350
RFPL4B	KRBA1	psi-mi:“MI:0914”(association)	0.350
PRG2	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
NCAPH2	MYO9A	psi-mi:“MI:0914”(association)	0.350
LYPD4	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
SNAPC4	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
CCT3	TUBAL3	psi-mi:“MI:0914”(association)	0.350
VCPIP1	USP9Y	psi-mi:“MI:0914”(association)	0.350
RBFOX2	PRMT5	psi-mi:“MI:0914”(association)	0.350
APOBEC3DE	CASC3	psi-mi:“MI:0914”(association)	0.350
ELOA2	XRCC2	psi-mi:“MI:0914”(association)	0.350
CHST8	CALU	psi-mi:“MI:0914”(association)	0.350

BioGRID (87): JMJD4 (Affinity Capture-RNA), JMJD4 (Affinity Capture-RNA), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS), JMJD4 (Synthetic Growth Defect), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS), JMJD4 (Affinity Capture-MS)

ESM2 similar proteins: A1A4L8, A2BDX3, A4RPM5, A5GFZ6, A6NK58, B4FAT0, B4NXF7, B6TNK6, O19179, O43323, O95396, O95571, P19971, P55203, P85971, Q02846, Q05922, Q08DH8, Q0VFH3, Q14BV6, Q17CA7, Q1WNP0, Q3KQV9, Q3TW96, Q3UQ84, Q561R2, Q58E95, Q5PQQ1, Q5ZKI2, Q61488, Q66JK4, Q6PAT0, Q7PY41, Q86U10, Q8AWD2, Q8NFV4, Q8VBZ0, Q8VDG5, Q923K4, Q96EY9

Diamond homologs: O13977, Q08BY5, Q5ZMK5, Q8BFT6, Q9H9V9, F4K2M8, Q5ZHV5, Q67ZB6, Q9VJ97, E1C7T6, Q3TA59, Q58CU3, Q5BKC6, Q6AXL5, Q6AY40, Q8BK58, Q96S16, Q9M9E8, Q58DS6, Q5R6G2, Q623U2, Q67XX3, Q6AYK2, Q6GND3, Q6NYC1, Q6PFM0, Q6Q4H1, Q7ZX37, Q9ERI5, Q9GYI4, Q9VD28, A8E534, P59723, Q08BV2, Q4IER0, Q54LV7, Q55DF5, Q5BH52, Q8BLR9, Q8RWR1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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
mitotic cell cycle	5	11.0×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	90
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1055 predictions. Top by Δscore:

Variant	Effect	Δscore
1:227732675:ACC:A	acceptor_loss	1.0000
1:227732677:C:CC	acceptor_gain	1.0000
1:227733023:TCATC:T	acceptor_gain	1.0000
1:227733024:CATC:C	acceptor_gain	1.0000
1:227733024:CATCC:C	acceptor_gain	1.0000
1:227733025:ATCCT:A	acceptor_loss	1.0000
1:227733026:TC:T	acceptor_gain	1.0000
1:227733026:TCCTG:T	acceptor_loss	1.0000
1:227733027:CC:C	acceptor_gain	1.0000
1:227733028:C:A	acceptor_loss	1.0000
1:227733028:C:CC	acceptor_gain	1.0000
1:227733029:T:A	acceptor_loss	1.0000
1:227733408:CATTA:C	donor_loss	1.0000
1:227733409:ATTAC:A	donor_loss	1.0000
1:227733410:TTAC:T	donor_loss	1.0000
1:227733411:TACCA:T	donor_loss	1.0000
1:227733412:A:C	donor_loss	1.0000
1:227733469:T:TA	donor_gain	1.0000
1:227733642:CCAG:C	acceptor_gain	1.0000
1:227733643:CAGC:C	acceptor_gain	1.0000
1:227733901:CCTCA:C	donor_loss	1.0000
1:227733902:CTCA:C	donor_loss	1.0000
1:227733905:A:AC	donor_gain	1.0000
1:227733905:ACCAG:A	donor_loss	1.0000
1:227733906:C:CC	donor_gain	1.0000
1:227733906:CCAG:C	donor_gain	1.0000
1:227734721:T:A	donor_gain	1.0000
1:227734977:T:A	donor_gain	1.0000
1:227735015:AGGT:A	donor_gain	1.0000
1:227735024:G:C	donor_gain	1.0000

AlphaMissense

2758 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:227733001:G:C	N329K	0.999
1:227733001:G:T	N329K	0.999
1:227733431:G:C	H315D	0.999
1:227733614:A:G	W254R	0.999
1:227733614:A:T	W254R	0.999
1:227733618:C:A	K252N	0.999
1:227733618:C:G	K252N	0.999
1:227733664:T:A	D237V	0.999
1:227733933:A:C	F222L	0.999
1:227733933:A:T	F222L	0.999
1:227733935:A:G	F222L	0.999
1:227734669:T:A	K183I	0.999
1:227733007:G:C	N327K	0.998
1:227733007:G:T	N327K	0.998
1:227733417:G:C	N319K	0.998
1:227733417:G:T	N319K	0.998
1:227733437:A:G	W313R	0.998
1:227733437:A:T	W313R	0.998
1:227733625:C:T	G250E	0.998
1:227733633:A:C	N247K	0.998
1:227733633:A:T	N247K	0.998
1:227733644:A:G	W244R	0.998
1:227733644:A:T	W244R	0.998
1:227733645:G:C	S243R	0.998
1:227733645:G:T	S243R	0.998
1:227733647:T:G	S243R	0.998
1:227733663:G:C	D237E	0.998
1:227733663:G:T	D237E	0.998
1:227733671:G:C	H235D	0.998
1:227733937:C:G	R221P	0.998

dbSNP variants (sampled 300 via entrez): RS1000272274 (1:227736405 C>A), RS1001333782 (1:227734184 C>A,T), RS1001557592 (1:227733697 C>G,T), RS1001585426 (1:227733461 C>T), RS1001922513 (1:227732308 G>A), RS1002493790 (1:227730877 G>A,C), RS1002751462 (1:227736555 C>T), RS1003190628 (1:227736402 C>A), RS1005104494 (1:227734516 T>C), RS1005240755 (1:227734901 C>G,T), RS1005780158 (1:227732226 G>A,C), RS1006869408 (1:227735521 T>C), RS1007045285 (1:227731151 G>A,T), RS1007309072 (1:227735820 G>C), RS1008268246 (1:227732848 C>A,G,T)

Disease associations

OMIM: gene MIM:620928 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): congenital portosystemic shunt (MONDO:0018811)

Orphanet (1): Congenital portosystemic shunt (Orphanet:480531)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000817_175	Height	2.000000e-13
GCST90020029_636	Waist circumference adjusted for body mass index	8.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	increases expression	1
beta-lapachone	increases expression	1
zinc chromate	increases abundance, decreases expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
pentabromodiphenyl ether	decreases expression	1
perfluoro-n-nonanoic acid	increases expression	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
Sunitinib	increases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects binding, decreases expression	1
Estradiol	increases expression	1
Fluorouracil	decreases expression	1
Gallic Acid	increases expression	1
Smoke	decreases expression	1
Dronabinol	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Cyclosporine	decreases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06041906	Not specified	ENROLLING_BY_INVITATION	International Registry of Congenital Portosystemic Shunt (IRCPSS)
NCT07314814	Not specified	NOT_YET_RECRUITING	Genetic Hallmarks of Patients With Congenital Portosystemic Shunts and Portopulmonary Hypertension