NHERF4

Summary

NHERF4 (NHERF family PDZ scaffold protein 4, HGNC:19891) is a protein-coding gene on chromosome 11q23.3, encoding Na(+)/H(+) exchange regulatory cofactor NHE-RF4 (Q86UT5). Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation.

Guanylyl cyclase C (GCC, or GUCY2C; MIM 601330) produces cGMP following the binding of either endogenous ligands or heat-stable enterotoxins secreted by E. coli and other enteric bacteria. Activation of GCC initiates a signaling cascade that leads to phosphorylation of the cystic fibrosis transmembrane conductance regulator (CFTR; MIM 602421), followed by a net efflux of ions and water into the intestinal lumen. IKEPP is a regulatory protein that associates with GCC and regulates the amount of cGMP produced following receptor stimulation (Scott et al., 2002 [PubMed 11950846]).

Source: NCBI Gene 79849 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 103 total
• MANE Select transcript: NM_001168468

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19891
Approved symbol	NHERF4
Name	NHERF family PDZ scaffold protein 4
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22756, IKEPP, NaPi-Cap2
Ensembl gene	ENSG00000172367
Ensembl biotype	protein_coding
OMIM	607146
Entrez	79849

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 retained_intron, 4 protein_coding, 1 nonsense_mediated_decay

ENST00000322712, ENST00000355547, ENST00000525131, ENST00000526279, ENST00000526836, ENST00000527028, ENST00000527308, ENST00000527951, ENST00000528730, ENST00000529098, ENST00000529573, ENST00000531114, ENST00000533688, ENST00000534790

RefSeq mRNA: 2 — MANE Select: NM_001168468 NM_001168468, NM_024791

CCDS: CCDS53719, CCDS8417

Canonical transcript exons

ENST00000355547 — 11 exons

Exon	Start	End
ENSE00001243980	119188355	119188551
ENSE00001243987	119187940	119188144
ENSE00003509001	119187564	119187700
ENSE00003519123	119187270	119187459
ENSE00003535270	119188640	119188867
ENSE00003609116	119186092	119186165
ENSE00003617440	119189005	119189205
ENSE00003622123	119185925	119185952
ENSE00003656219	119186479	119186690
ENSE00003847504	119185475	119185510
ENSE00003848671	119189463	119190213

Expression profiles

Bgee: expression breadth ubiquitous, 129 present calls, max score 95.92.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2308 / max 69.0380, expressed in 35 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117104	0.1832	31
117103	0.0411	19
117102	0.0064	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	95.92	gold quality
duodenum	UBERON:0002114	91.43	gold quality
rectum	UBERON:0001052	91.35	gold quality
ileal mucosa	UBERON:0000331	90.70	gold quality
right uterine tube	UBERON:0001302	88.46	gold quality
jejunal mucosa	UBERON:0000399	87.44	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.31	gold quality
small intestine	UBERON:0002108	86.50	gold quality
transverse colon	UBERON:0001157	86.02	gold quality
adult mammalian kidney	UBERON:0000082	84.19	gold quality
gall bladder	UBERON:0002110	83.51	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.71	gold quality
buccal mucosa cell	CL:0002336	78.72	gold quality
colonic mucosa	UBERON:0000317	78.59	gold quality
jejunum	UBERON:0002115	78.50	gold quality
triceps brachii	UBERON:0001509	78.22	gold quality
kidney	UBERON:0002113	78.22	gold quality
gluteal muscle	UBERON:0002000	77.83	gold quality
cervix squamous epithelium	UBERON:0006922	77.71	gold quality
pancreatic ductal cell	CL:0002079	77.60	silver quality
mucosa of sigmoid colon	UBERON:0004993	77.05	gold quality
intestine	UBERON:0000160	75.82	gold quality
kidney epithelium	UBERON:0004819	73.72	silver quality
nephron tubule	UBERON:0001231	73.66	silver quality
cortex of kidney	UBERON:0001225	73.58	gold quality
cerebellar vermis	UBERON:0004720	73.46	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	73.25	gold quality
large intestine	UBERON:0000059	72.39	gold quality
endothelial cell	CL:0000115	72.31	gold quality
metanephros cortex	UBERON:0010533	72.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.48

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting NHERF4, 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-6508-5P	99.92	70.67	2465
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-6811-3P	98.62	66.54	944
HSA-MIR-3135B	98.61	65.33	1470
HSA-MIR-210-5P	98.57	64.37	832
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-654-3P	98.38	67.61	905
HSA-MIR-2861	95.24	65.47	1056
HSA-MIR-6769A-3P	94.91	61.36	412
HSA-MIR-8074	90.61	65.46	165

Literature-anchored findings (GeneRIF, showing 4)

• A novel PDZ protein regulates the activity of guanylyl cyclase C, the heat-stable enterotoxin receptor. (PMID:11950846)
• Regulation of NHE3 depends on the nature of the NHERF family member associating with NHE3 and the accompanying NHE3 complexes. (PMID:19088451)
• The NHERF4 is a novel modulator of luminal fluidity in the intestine by adjusting SLC26A3 expression and activity through a phosphorylation-dependent mechanism. (PMID:22627094)
• IKEPP was also found to be expressed in vascular endothelial cells where it co-localizes and complexes with the hIP (PMID:22884631)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nherf4a	ENSDARG00000040568
danio_rerio	nherf4b	ENSDARG00000055656
mus_musculus	Nherf4	ENSMUSG00000032105
rattus_norvegicus	Nherf4	ENSRNOG00000008526
caenorhabditis_elegans		WBGENE00006438

Paralogs (3): NHERF2 (ENSG00000065054), NHERF1 (ENSG00000109062), PDZK1 (ENSG00000174827)

Protein

Protein identifiers

Na(+)/H(+) exchange regulatory cofactor NHE-RF4 — Q86UT5 (reviewed: Q86UT5)

Alternative names: Intestinal and kidney-enriched PDZ protein, Natrium-phosphate cotransporter IIa C-terminal-associated protein 2, PDZ domain-containing protein 2, PDZ domain-containing protein 3, Sodium-hydrogen exchanger regulatory factor 4

All UniProt accessions (4): B0YJ61, E9PPZ1, E9PRB0, Q86UT5

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a regulatory protein that associates with GUCY2C and negatively modulates its heat-stable enterotoxin-mediated activation. Stimulates SLC9A3 activity in the presence of elevated calcium ions.

Subunit / interactions. Interacts with the C-terminal region of GUCY2C. Interacts with the C-terminal region SLC9A3 and the interactions decrease in response to elevated calcium ion levels. Interacts with the C-terminal region of SLC34A1. Interacts with USP2 isoform 4. Interacts (via the third PDZ domain) with SLC26A3 (via PDZ-binding motif); interaction leads to decreased expression of SLC26A3 on the cell membrane resulting in its reduced exchanger activity.

Subcellular location. Cell membrane. Cytoplasm.

Tissue specificity. Expressed in kidney and the gastrointestinal tract. Not detected in brain, heart, skeletal muscle or cells of hematopoietic origin.

Post-translational modifications. Phosphorylation at Ser-395 negatively regulates its interaction with SLC26A3.

Isoforms (5)

UniProt ID	Names	Canonical?
Q86UT5-1	1	yes
Q86UT5-2	2
Q86UT5-3	3
Q86UT5-4	4
Q86UT5-5	5

RefSeq proteins (2): NP_001161940, NP_079067 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001478	PDZ	Domain
IPR036034	PDZ_sf	Homologous_superfamily
IPR051067	NHER	Family

Pfam: PF00595

UniProt features (27 total): splice variant 6, strand 5, domain 4, sequence conflict 4, helix 2, region of interest 2, chain 1, turn 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2V90	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86UT5-F1	69.72	0.27

Functional residue map

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

Post-translational modifications (1): 395

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8942233	Intestinal infectious diseases

MSigDB gene sets: 105 (showing top): GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, COUP_01, GOBP_WATER_TRANSPORT, HNF4_DR1_Q3, HNF4_01, PPAR_DR1_Q2, GOCC_APICAL_PLASMA_MEMBRANE, SABATES_COLORECTAL_ADENOMA_DN, GOBP_RESPONSE_TO_TOXIC_SUBSTANCE, GOMF_SIGNALING_RECEPTOR_BINDING, GOCC_CELL_CELL_JUNCTION, GOBP_LOCALIZATION_WITHIN_MEMBRANE, GOBP_FLUID_TRANSPORT, GOCC_APICAL_PART_OF_CELL, GOCC_CLUSTER_OF_ACTIN_BASED_CELL_PROJECTIONS

GO Biological Process (6): monoatomic ion transport (GO:0006811), water transport (GO:0006833), receptor guanylyl cyclase signaling pathway (GO:0007168), response to toxic substance (GO:0009636), negative regulation of receptor guanylyl cyclase signaling pathway (GO:0010754), protein localization to plasma membrane (GO:0072659)

GO Molecular Function (6): signaling receptor binding (GO:0005102), ion channel inhibitor activity (GO:0008200), guanylate cyclase inhibitor activity (GO:0030251), protein-membrane adaptor activity (GO:0043495), ubiquitin-specific protease binding (GO:1990381), protein binding (GO:0005515)

GO Cellular Component (8): cytosol (GO:0005829), plasma membrane (GO:0005886), brush border (GO:0005903), apical plasma membrane (GO:0016324), apical junction complex (GO:0043296), apical part of cell (GO:0045177), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Uptake and actions of bacterial toxins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
apical part of cell	2
transport	1
fluid transport	1
enzyme-linked receptor protein signaling pathway	1
response to chemical	1
receptor guanylyl cyclase signaling pathway	1
negative regulation of signal transduction	1
protein localization to membrane	1
protein localization to cell periphery	1
protein binding	1
monoatomic ion channel activity	1
channel inhibitor activity	1
transmembrane transporter binding	1
ion channel regulator activity	1
guanylate cyclase activity	1
cyclase inhibitor activity	1
guanylate cyclase regulator activity	1
protein-macromolecule adaptor activity	1
protease binding	1
binding	1
cytoplasm	1
membrane	1
cell periphery	1
microvillus	1
cluster of actin-based cell projections	1
plasma membrane region	1
cell-cell junction	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

822 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NHERF4	GUCY2C	P25092	914
NHERF4	CFTR	P13569	832
NHERF4	SLC34A1	Q06495	737
NHERF4	NPR3	P17342	730
NHERF4	SLC22A5	O76082	640
NHERF4	SLC26A3	P40879	631
NHERF4	SLC22A4	Q9H015	601
NHERF4	SHANK2	Q9UPX8	594
NHERF4	GUCA2B	Q16661	568
NHERF4	GOPC	Q9HD26	568
NHERF4	SPRYD7	Q5W111	565
NHERF4	SLC9A3	P48764	507
NHERF4	NHERF1	O14745	477
NHERF4	PDZK1	Q5T2W1	460
NHERF4	GUCA2A	Q02747	459

IntAct

837 interactions, top by confidence:

A	B	Type	Score
PRKAG2	PRKAB2	psi-mi:“MI:0914”(association)	0.730
CACNA1S	NHERF4	psi-mi:“MI:0915”(physical association)	0.560
NHERF4	SPRYD7	psi-mi:“MI:0915”(physical association)	0.560
ASAP3	NHERF4	psi-mi:“MI:0915”(physical association)	0.560
NHERF4	SLC41A3	psi-mi:“MI:0915”(physical association)	0.560
NHERF4	CACNA1S	psi-mi:“MI:0915”(physical association)	0.560
SPRYD7	NHERF4	psi-mi:“MI:0915”(physical association)	0.560
NHERF4	ASAP3	psi-mi:“MI:0915”(physical association)	0.560
SLC41A3	NHERF4	psi-mi:“MI:0915”(physical association)	0.560
E6	NHERF4	psi-mi:“MI:0915”(physical association)	0.540
E6	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.540
PTTG2	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
WHRN	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
GARIN6	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
CIB2	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
SLCO1C1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
KCNV1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
SLC15A5	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
PRKN	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
NHERF4	ORF putative E6	psi-mi:“MI:0407”(direct interaction)	0.440
ABCC4	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
GJC1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
DOCK4	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
WWTR1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
YAP1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
ASIC3	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (17): PDZD3 (Two-hybrid), PDZD3 (Two-hybrid), PDZD3 (Two-hybrid), PDZD3 (Two-hybrid), PDZD3 (Reconstituted Complex), PDZD3 (Reconstituted Complex), PDZD3 (Two-hybrid), PDZD3 (Two-hybrid), PDZD3 (Two-hybrid), PDZD3 (Reconstituted Complex), GUCY2C (Reconstituted Complex), PDZD3 (Affinity Capture-Western), PDZD3 (Protein-peptide), PDZD3 (Affinity Capture-MS), PDZD3 (Two-hybrid)

ESM2 similar proteins: A3R064, A7E3N7, D3ZBP4, E9Q6X9, F1MH07, G3V8H4, O70248, O88888, O95382, O96018, P97465, Q0VBL6, Q13470, Q3KR16, Q3MIN7, Q3UYI5, Q3V3V9, Q4QQV2, Q58EX7, Q5EA84, Q5VV41, Q6F5E8, Q6P5Z2, Q6PGG2, Q80XL1, Q86UT5, Q8BWA8, Q8CJ00, Q8IW93, Q8K031, Q8K045, Q8R5F8, Q8TDZ2, Q8TE67, Q8VDP3, Q924T7, Q92502, Q92918, Q969H4, Q99704

Diamond homologs: A0A140LI67, A0A8P0N4K0, A4D2P6, A5PKA5, A8MUH7, B7WN72, D3YZU1, G5ECY0, O08774, O14745, O14910, O14924, O15085, O88951, O88952, P31016, P70175, P70441, P78352, Q0P5F3, Q12923, Q13425, Q14160, Q15599, Q15700, Q28619, Q28C55, Q2KIB6, Q32LM6, Q3SZK8, Q3T0X8, Q3UHD6, Q4ACU6, Q4H4B6, Q4KL35, Q4R6G4, Q52KW0, Q5F425, Q5F488, Q5PYH5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 118 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
TCF dependent signaling in response to WNT	6	8.6×	9e-03
Neuronal System	9	4.9×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
bicellular tight junction assembly	5	15.2×	6e-03
positive regulation of osteoblast differentiation	5	10.3×	9e-03
negative regulation of canonical Wnt signaling pathway	7	7.6×	6e-03
chemical synaptic transmission	9	6.4×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	94
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1972 predictions. Top by Δscore:

Variant	Effect	Δscore
11:119187697:G:GT	donor_gain	1.0000
11:119187698:A:T	donor_gain	1.0000
11:119188143:TGG:T	donor_loss	1.0000
11:119188144:GGT:G	donor_loss	1.0000
11:119188145:GT:G	donor_loss	1.0000
11:119188146:T:A	donor_loss	1.0000
11:119187427:A:G	donor_gain	0.9900
11:119187434:T:TA	donor_gain	0.9900
11:119187435:G:GA	donor_gain	0.9900
11:119187559:TCTA:T	acceptor_loss	0.9900
11:119187560:CTA:C	acceptor_loss	0.9900
11:119187561:TA:T	acceptor_loss	0.9900
11:119187562:A:AG	acceptor_gain	0.9900
11:119187563:G:GG	acceptor_gain	0.9900
11:119187696:GGAAG:G	donor_gain	0.9900
11:119187697:GAAGG:G	donor_loss	0.9900
11:119187698:AAGG:A	donor_loss	0.9900
11:119187699:AGGTG:A	donor_loss	0.9900
11:119187700:GGTG:G	donor_loss	0.9900
11:119187937:CAGCT:C	acceptor_loss	0.9900
11:119187938:A:AG	acceptor_gain	0.9900
11:119187938:AG:A	acceptor_loss	0.9900
11:119187939:G:A	acceptor_loss	0.9900
11:119187939:G:GG	acceptor_gain	0.9900
11:119187939:GCTTT:G	acceptor_gain	0.9900
11:119188145:G:GG	donor_gain	0.9900
11:119188147:GA:G	donor_loss	0.9900
11:119188547:GCATG:G	donor_gain	0.9900
11:119188549:ATGG:A	donor_loss	0.9900
11:119188550:TGGTG:T	donor_loss	0.9900

AlphaMissense

3218 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:119186545:T:C	F128S	0.988
11:119186644:T:C	I161T	0.988
11:119188105:T:C	F341L	0.987
11:119188107:C:A	F341L	0.987
11:119188107:C:G	F341L	0.987
11:119188106:T:C	F341S	0.986
11:119186544:T:C	F128L	0.985
11:119186546:C:A	F128L	0.985
11:119186546:C:G	F128L	0.985
11:119188429:G:C	A379P	0.976
11:119188484:T:C	I397T	0.976
11:119187642:T:A	L266Q	0.974
11:119186644:T:G	I161S	0.973
11:119188360:T:C	F356L	0.973
11:119188362:C:A	F356L	0.973
11:119188362:C:G	F356L	0.973
11:119188099:T:C	F339L	0.972
11:119188101:T:A	F339L	0.972
11:119188101:T:G	F339L	0.972
11:119186626:T:A	L155H	0.971
11:119187609:C:A	A255D	0.971
11:119187445:T:C	F235S	0.967
11:119186657:C:A	N165K	0.965
11:119186657:C:G	N165K	0.965
11:119187642:T:G	L266R	0.965
11:119188821:T:C	F480S	0.965
11:119187654:A:T	N270I	0.964
11:119187624:T:A	V260E	0.963
11:119188421:G:C	R376P	0.963
11:119188406:T:C	M371T	0.960

dbSNP variants (sampled 300 via entrez): RS1000176398 (11:119190517 T>C), RS1000342609 (11:119187199 G>A,C,T), RS1000373732 (11:119186869 T>C), RS1001735789 (11:119187913 T>C), RS1002403169 (11:119186394 C>A), RS1002887014 (11:119186192 T>C), RS1004474376 (11:119186799 C>T), RS1005149239 (11:119189404 A>G), RS1005181599 (11:119189157 C>A), RS1006188030 (11:119187948 G>A), RS1006494936 (11:119184944 A>C), RS1006668192 (11:119189786 T>A,C), RS1007210060 (11:119185402 C>T), RS1007376318 (11:119188572 G>A), RS1007404323 (11:119188317 A>G)

Disease associations

OMIM: gene MIM:607146 | 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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	decreases expression	1
terbufos	decreases methylation	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Aldehydes	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases expression	1
Fonofos	decreases methylation	1
Parathion	decreases methylation	1
Plant Extracts	decreases expression, affects cotreatment	1
Silicon Dioxide	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Palmitic Acid	decreases expression	1
Okadaic Acid	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