PHAX

Summary

PHAX (phosphorylated adaptor for RNA export, HGNC:10241) is a protein-coding gene on chromosome 5q23.2, encoding Phosphorylated adapter RNA export protein (Q9H814). A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. It is a common-essential gene (DepMap: required in 98.6% of cancer cell lines).

Enables mRNA cap binding complex binding activity. Involved in RNA stabilization. Located in nucleoplasm. Part of ribonucleoprotein complex.

Source: NCBI Gene 51808 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 55 total
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 98.6% of screened cell lines (common-essential)
• MANE Select transcript: NM_032177

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10241
Approved symbol	PHAX
Name	phosphorylated adaptor for RNA export
Location	5q23.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13193
Ensembl gene	ENSG00000164902
Ensembl biotype	protein_coding
OMIM	604924
Entrez	51808

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 retained_intron, 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000297540, ENST00000505674, ENST00000511371, ENST00000513813, ENST00000514725, ENST00000852111

RefSeq mRNA: 1 — MANE Select: NM_032177 NM_032177

CCDS: CCDS4138

Canonical transcript exons

ENST00000297540 — 5 exons

Exon	Start	End
ENSE00001088424	126603570	126604183
ENSE00001629909	126624575	126627252
ENSE00002044321	126600947	126601058
ENSE00003470862	126617250	126617333
ENSE00003548896	126608364	126608484

Expression profiles

Bgee: expression breadth ubiquitous, 262 present calls, max score 98.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.3559 / max 559.7910, expressed in 1797 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
58294	30.3559	1797

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	98.37	gold quality
calcaneal tendon	UBERON:0003701	97.66	gold quality
endothelial cell	CL:0000115	97.18	gold quality
colonic epithelium	UBERON:0000397	95.01	gold quality
ventricular zone	UBERON:0003053	94.80	gold quality
cortical plate	UBERON:0005343	94.44	gold quality
embryo	UBERON:0000922	94.31	gold quality
ganglionic eminence	UBERON:0004023	94.31	gold quality
stromal cell of endometrium	CL:0002255	94.27	gold quality
smooth muscle tissue	UBERON:0001135	93.33	gold quality
tendon	UBERON:0000043	93.22	gold quality
adrenal tissue	UBERON:0018303	92.88	gold quality
islet of Langerhans	UBERON:0000006	92.74	gold quality
primary visual cortex	UBERON:0002436	92.30	gold quality
corpus callosum	UBERON:0002336	92.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.21	gold quality
medial globus pallidus	UBERON:0002477	92.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	92.07	gold quality
prefrontal cortex	UBERON:0000451	92.05	gold quality
occipital lobe	UBERON:0002021	92.03	gold quality
amniotic fluid	UBERON:0000173	92.00	gold quality
epithelial cell of pancreas	CL:0000083	91.48	gold quality
germinal epithelium of ovary	UBERON:0001304	91.40	gold quality
globus pallidus	UBERON:0001875	91.00	gold quality
vermiform appendix	UBERON:0001154	90.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.76	gold quality
tonsil	UBERON:0002372	90.63	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.60	gold quality
muscle of leg	UBERON:0001383	90.55	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.52	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.51

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

72 targeting PHAX, 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-4425	100.00	67.59	1049
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-148A-3P	99.74	73.77	1700

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.6% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 4)

• PHAX and CRM1 have roles in transporting U3 snoRNA to nucleoli (PMID:15574332)
• PHAX RNA-binding domain mediates auxiliary RNA contracts with small nuclear and mall nucleolar RNA substrates. (PMID:20430857)
• The RNA transport factor PHAX is required for proper histone H2AX expression and DNA damage response. (PMID:32759388)
• TRIM24 Cooperates with Ras Mutation to Drive Glioma Progression through snoRNA Recruitment of PHAX and DNA-PKcs. (PMID:38828688)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	phax	ENSDARG00000044298
mus_musculus	Phax	ENSMUSG00000008301
rattus_norvegicus	Phax	ENSRNOG00000014459
drosophila_melanogaster	Phax	FBGN0033380
caenorhabditis_elegans		WBGENE00022192

Protein

Protein identifiers

Phosphorylated adapter RNA export protein — Q9H814 (reviewed: Q9H814)

Alternative names: RNA U small nuclear RNA export adapter protein

All UniProt accessions (1): Q9H814

UniProt curated annotations — full annotation on UniProt →

Function. A phosphoprotein adapter involved in the XPO1-mediated U snRNA export from the nucleus. Bridge components required for U snRNA export, the cap binding complex (CBC)-bound snRNA on the one hand and the GTPase Ran in its active GTP-bound form together with the export receptor XPO1 on the other. Its phosphorylation in the nucleus is required for U snRNA export complex assembly and export, while its dephosphorylation in the cytoplasm causes export complex disassembly. It is recycled back to the nucleus via the importin alpha/beta heterodimeric import receptor. The directionality of nuclear export is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. Its compartmentalized phosphorylation cycle may also contribute to the directionality of export. Binds strongly to m7G-capped U1 and U5 small nuclear RNAs (snRNAs) in a sequence-unspecific manner and phosphorylation-independent manner. Also plays a role in the biogenesis of U3 small nucleolar RNA (snoRNA). Involved in the U3 snoRNA transport from nucleoplasm to Cajal bodies. Binds strongly to m7G-capped U3, U8 and U13 precursor snoRNAs and weakly to trimethylated (TMG)-capped U3, U8 and U13 snoRNAs. Also binds to telomerase RNA.

Subunit / interactions. Found in a U snRNA export complex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20, RAN, XPO1 and m7G-capped RNA. Part of a precomplex with PHAX/RNUXA, NCBP1/CBP80, NCBP2/CBP20 and m7G-capped RNA. Interacts with NCBP1/CBP80. Found in a complex with snoRNA. Interacts with NCBP2/CBP20. Interacts with DDX39A; this interaction stimulates PHAX RNA binding activity.

Subcellular location. Nucleus. Nucleoplasm. Cajal body. Cytoplasm.

Post-translational modifications. Phosphorylated in the nucleus. Dephosphorylated in the cytoplasm.

Similarity. Belongs to the PHAX family.

RefSeq proteins (1): NP_115553* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019385	PHAX_RNA-binding_domain	Domain
IPR038092	PHAX_RNA-binding_sf	Homologous_superfamily
IPR039047	PHAX	Family

Pfam: PF10258

UniProt features (33 total): modified residue 11, region of interest 6, helix 5, short sequence motif 3, compositionally biased region 2, sequence conflict 2, initiator methionine 1, chain 1, sequence variant 1, strand 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9HFL	ELECTRON MICROSCOPY	2.62
8PNT	ELECTRON MICROSCOPY	3.46
2XC7	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H814-F1	66.09	0.18

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 (11): 2, 14, 16, 65, 66, 69, 73, 226, 296, 356, 368

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-191859	snRNP Assembly
R-HSA-6807505	RNA polymerase II transcribes snRNA genes

MSigDB gene sets: 132 (showing top): GCM_MAP4K4, MODULE_255, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_317, GOBP_NUCLEAR_TRANSPORT, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, ACATTCC_MIR1_MIR206, GARY_CD5_TARGETS_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, GCM_NF2, GOBP_NUCLEAR_EXPORT, ACEVEDO_LIVER_CANCER_UP, GOBP_RNA_LOCALIZATION

GO Biological Process (3): snRNA export from nucleus (GO:0006408), protein transport (GO:0015031), RNA stabilization (GO:0043489)

GO Molecular Function (4): RNA binding (GO:0003723), toxic substance binding (GO:0015643), mRNA cap binding complex binding (GO:0140262), protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), Cajal body (GO:0015030), neuronal cell body (GO:0043025), ribonucleoprotein complex (GO:1990904), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Metabolism of non-coding RNA	1
RNA Polymerase II Transcription	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
binding	2
RNA export from nucleus	1
snRNA transport	1
transport	1
intracellular protein localization	1
establishment of protein localization	1
regulation of RNA stability	1
negative regulation of RNA catabolic process	1
nucleic acid binding	1
protein-containing complex binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
nuclear ribonucleoprotein granule	1
somatodendritic compartment	1
cell body	1
protein-containing complex	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1852 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PHAX	XPO1	O14980	987
PHAX	NCBP1	Q09161	934
PHAX	NCBP2	P52298	897
PHAX	SRRT	Q9BXP5	888
PHAX	NOLC1	Q14978	846
PHAX	SNUPN	O95149	803
PHAX	COIL	P38432	703
PHAX	RBM7	Q9Y580	695
PHAX	GEMIN5	Q8TEQ6	689
PHAX	FBL	P22087	678
PHAX	DKC1	O60832	676
PHAX	GEMIN2	O14893	667
PHAX	ZCCHC8	Q6NZY4	653
PHAX	POLR1A	O95602	650
PHAX	GAR1	Q9NY12	640

IntAct

123 interactions, top by confidence:

A	B	Type	Score
NCBP1	NCBP2	psi-mi:“MI:0915”(physical association)	0.960
FBL	NOP56	psi-mi:“MI:0914”(association)	0.800
	NCBP2	psi-mi:“MI:0915”(physical association)	0.690
SNRPB	PRMT5	psi-mi:“MI:0914”(association)	0.670
	NELFE	psi-mi:“MI:0915”(physical association)	0.660
	SRRT	psi-mi:“MI:0915”(physical association)	0.660
NCBP2	KPNA3	psi-mi:“MI:0914”(association)	0.640
SNRPA1	HTATSF1	psi-mi:“MI:0914”(association)	0.640
NCBP1	KPNA3	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
SNRNP70	GEMIN2	psi-mi:“MI:0914”(association)	0.640
SNRPA1	U2SURP	psi-mi:“MI:0914”(association)	0.640
	PHAX	psi-mi:“MI:0915”(physical association)	0.630
NP	KPNA6	psi-mi:“MI:0914”(association)	0.550

BioGRID (217): PHAX (Affinity Capture-MS), PHAX (Affinity Capture-MS), PHAX (Affinity Capture-MS), PHAX (Affinity Capture-MS), PHAX (Co-fractionation), PHAX (Co-fractionation), PHAX (Proximity Label-MS), PHAX (Affinity Capture-MS), KPNA1 (Affinity Capture-MS), NCBP1 (Affinity Capture-MS), RPL10 (Affinity Capture-MS), SSRP1 (Affinity Capture-MS), TNFRSF1A (Affinity Capture-MS), FAM20B (Affinity Capture-MS), PHAX (Affinity Capture-MS)

ESM2 similar proteins: A0A087WRI3, A0A1B0GVH7, A2RUB6, A6QQ68, A8E4X8, A9Q751, O75665, P0C875, Q28C41, Q2IA00, Q2T9P0, Q32KL8, Q32KQ1, Q3MHI4, Q497Q6, Q4G0U5, Q5RBD6, Q5T5N4, Q5TID7, Q5U465, Q5XI03, Q5XI56, Q5XX13, Q5ZIH9, Q5ZLY0, Q6DHV5, Q6PCG6, Q6ZQR2, Q7L0X2, Q7Z4T9, Q80X60, Q80YS5, Q86Z20, Q8BRC6, Q8BVV7, Q8C9J3, Q8CDW1, Q8CFW7, Q8HZY8, Q8IYJ2

Diamond homologs: Q3MHI4, Q5ZLY0, Q63068, Q9H814, Q9JJT9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 110 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
Metabolism of non-coding RNA	5	43.5×	2e-06
snRNP Assembly	12	34.8×	2e-13
Transport of Mature Transcript to Cytoplasm	6	31.3×	1e-06
NS1 Mediated Effects on Host Pathways	7	27.4×	3e-07
SARS-CoV-2 modulates host translation machinery	7	21.5×	1e-06
RNA Polymerase II Transcription Termination	7	21.1×	1e-06
mRNA Splicing	13	19.6×	8e-12
mRNA 3’-end processing	7	18.9×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
NLS-bearing protein import into nucleus	6	49.1×	2e-07
spliceosomal snRNP assembly	8	47.4×	1e-09
spliceosomal complex assembly	5	30.7×	5e-05
positive regulation of mRNA splicing, via spliceosome	5	27.7×	5e-05
mRNA export from nucleus	6	18.1×	5e-05
mRNA transport	6	16.1×	9e-05
ribosomal small subunit biogenesis	6	13.9×	2e-04
RNA splicing	15	13.5×	2e-10

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

734 predictions. Top by Δscore:

Variant	Effect	Δscore
5:126601055:GCCA:G	donor_gain	1.0000
5:126601059:G:GG	donor_gain	1.0000
5:126603566:GCA:G	acceptor_loss	1.0000
5:126603568:A:AC	acceptor_loss	1.0000
5:126603568:A:AG	acceptor_gain	1.0000
5:126603569:G:A	acceptor_loss	1.0000
5:126603569:G:GT	acceptor_gain	1.0000
5:126603569:GA:G	acceptor_gain	1.0000
5:126603569:GAA:G	acceptor_gain	1.0000
5:126603569:GAAA:G	acceptor_gain	1.0000
5:126608359:A:AG	acceptor_gain	1.0000
5:126608359:ATCAG:A	acceptor_gain	1.0000
5:126608362:A:AG	acceptor_gain	1.0000
5:126608362:AG:A	acceptor_gain	1.0000
5:126608363:G:A	acceptor_gain	1.0000
5:126608363:G:GA	acceptor_loss	1.0000
5:126608363:G:GG	acceptor_gain	1.0000
5:126608363:GGT:G	acceptor_gain	1.0000
5:126608363:GGTT:G	acceptor_gain	1.0000
5:126608469:T:TA	donor_gain	1.0000
5:126608470:G:GA	donor_gain	1.0000
5:126608480:TAATG:T	donor_gain	1.0000
5:126608481:AATG:A	donor_gain	1.0000
5:126608482:ATG:A	donor_gain	1.0000
5:126608482:ATGGT:A	donor_loss	1.0000
5:126608483:TG:T	donor_gain	1.0000
5:126608483:TGGTA:T	donor_loss	1.0000
5:126608484:GG:G	donor_gain	1.0000
5:126608484:GGTA:G	donor_loss	1.0000
5:126608485:G:GG	donor_gain	1.0000

AlphaMissense

2636 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:126608366:T:C	L238S	1.000
5:126608387:T:C	L245P	1.000
5:126608435:T:C	L261P	1.000
5:126608438:T:C	L262P	1.000
5:126617263:G:C	R282T	1.000
5:126617264:A:C	R282S	1.000
5:126617264:A:T	R282S	1.000
5:126617266:G:C	R283T	1.000
5:126617267:A:C	R283S	1.000
5:126617267:A:T	R283S	1.000
5:126617275:G:A	G286D	1.000
5:126617277:G:A	G287R	1.000
5:126617277:G:C	G287R	1.000
5:126617293:T:C	L292P	1.000
5:126608460:A:C	E269D	0.999
5:126608460:A:T	E269D	0.999
5:126608468:G:T	G272V	0.999
5:126608470:G:C	G273R	0.999
5:126608471:G:A	G273D	0.999
5:126617259:C:G	R281G	0.999
5:126617262:A:G	R282G	0.999
5:126617265:A:G	R283G	0.999
5:126617266:G:T	R283I	0.999
5:126617274:G:C	G286R	0.999
5:126617278:G:A	G287E	0.999
5:126617281:T:A	V288D	0.999
5:126617284:T:C	F289S	0.999
5:126617287:T:C	L290P	0.999
5:126617296:T:C	L293S	0.999
5:126617300:A:C	K294N	0.999

dbSNP variants (sampled 300 via entrez): RS1000018620 (5:126611357 A>G), RS1000190028 (5:126600010 A>G), RS1000259292 (5:126605002 C>T), RS1000292256 (5:126624062 G>A,T), RS1000609958 (5:126605258 C>G,T), RS1000622632 (5:126599736 G>A), RS1000674978 (5:126599488 T>C), RS1000924006 (5:126615356 A>C), RS1000986069 (5:126614796 A>T), RS1001037591 (5:126620177 C>T), RS1001089986 (5:126619771 A>C,G), RS1001315452 (5:126615598 C>G), RS1001331788 (5:126615057 C>G,T), RS1001701450 (5:126617853 A>G), RS1001731645 (5:126619691 T>C)

Disease associations

OMIM: gene MIM:604924 | disease phenotypes: MIM:142623

GenCC curated gene-disease

Mondo (1): Hirschsprung disease (MONDO:0018309)

Orphanet (1): Hirschsprung disease (Orphanet:388)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST007552_35	Colorectal cancer	4.000000e-08
GCST012306_5	Bipolar disorder	9.000000e-06

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006627	Hirschsprung Disease	C06.198.439; C06.405.469.158.701.439; C16.131.314.439

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067335 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.46	Kd	3508	nM	CHEMBL3752910
5.46	ED50	3508	nM	CHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149908: Binding affinity to human PHAX incubated for 45 mins by Kinobead based pull down assay	kd	3.5078	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tretinoin	decreases expression, increases expression	2
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
coumarin	increases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
nutlin 3	affects cotreatment, increases secretion	1
ICG 001	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Dactinomycin	affects cotreatment, increases secretion	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Hydrogen Peroxide	increases expression	1
Ivermectin	decreases expression	1
Lead	increases expression	1
Phenobarbital	affects expression	1
Quercetin	increases phosphorylation	1
Smoke	decreases expression	1
Thimerosal	increases expression	1
Tobacco Smoke Pollution	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652950	Binding	Binding affinity to human PHAX incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02343562	PHASE4	UNKNOWN	Probiotics for Prophylaxis of Postoperative Hirschsprungs Associated Enterocolitis
NCT07186647	PHASE4	COMPLETED	Laparoscopic-Assisted Transanal Pull-Through for Hirschsprung Disease in Pediatric:Short and Intermediate Outcomes of Two Different Techniques
NCT03660176	PHASE3	UNKNOWN	Effects of Butyrate Enemas on Postoperative Intestinal Mobility Disorders in Hirschsprung’s Disease
NCT04904081	PHASE3	UNKNOWN	Feasibility of Use of Indocyanine Green in Pediatric Colorectal Surgery
NCT00630838	PHASE2	COMPLETED	Probiotic Prophylaxis of Hirschprung’s Disease Associated Enterocolitis (HAEC)
NCT00671684	PHASE1/PHASE2	UNKNOWN	Endoscopic Mucosal Resection (EMR) for Diagnosis of Hirschsprung’s Disease
NCT01985646	EARLY_PHASE1	COMPLETED	A Trial on Conservative Treatment for Infants’ Hirschsprung Disease
NCT00478712	Not specified	RECRUITING	Hirschsprung Disease Genetic Study
NCT01515501	Not specified	COMPLETED	Endoscopic Mucosal Resection for the Diagnosis of a-Ganglionosis, a Controlled Prospective Trial (EDGE Trial)
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT01927809	Not specified	UNKNOWN	Genetic Mosaicism in Hirschsprung’s Disease
NCT02193685	Not specified	UNKNOWN	Identification Genetic, Immunologic and Microbial Markers of Hirschsprung Associated Enterocolitis in Children With Hirschsprung Disease
NCT02216994	Not specified	UNKNOWN	A New Scoring System Improves Diagnostic Accuracy of Intestinal Dysganglionosis –a Prospective Study
NCT02296008	Not specified	COMPLETED	3D High Resolution Anorectal Manometry in Children After Surgery for Anorectal Disorders
NCT02776176	Not specified	UNKNOWN	Enhanced Recovery After Surgery In Hirschsprung Disease
NCT02857205	Not specified	COMPLETED	MICROPRUNG : Intestinal Microbiota Analysis in Patients With or Without Hirschsprung’s Associated EnteroColitis
NCT03269812	Not specified	UNKNOWN	Laparoscopic Assisted Pull-through Versus Other Surgical Procedures for Treatment of Hirschsprung Disease
NCT03406741	Not specified	COMPLETED	Neuropsychological Development and Functional Outcome Sin Children With Hirschsprung Disease at School Age
NCT03626350	Not specified	ACTIVE_NOT_RECRUITING	Prospective Evaluation of the Efficacy and Safety of Submucosal Endoscopy
NCT03666767	Not specified	COMPLETED	Management and Outcomes of Congenital Anomalies in Low-, Middle- and High-Income Countries
NCT04020939	Not specified	COMPLETED	The Role of Indocyanine Green Angiography Fluorescence on Intestinal Resections in Pediatric Surgery.
NCT04106947	Not specified	UNKNOWN	Transition of Care for Patients With Hirschsprung Disease and Anorectal Malformations
NCT04149093	Not specified	UNKNOWN	The Association Between Calretinin and the Function of Ganglion Cells in Hirschsprung Disease
NCT04150120	Not specified	COMPLETED	eHealth as an Aid for Facilitating and Supporting Self-management in Families With Long-term Childhood Illness
NCT04213976	Not specified	UNKNOWN	Ostomy in Continuity or Conventional Ileostomy: a Retrospective Multicentric Analysis
NCT04476225	Not specified	COMPLETED	Induced Pluripotent Stem Cells for Disease Research
NCT04598841	Not specified	COMPLETED	Nutrition Support for Hirschsprung Disease
NCT04622410	Not specified	RECRUITING	Registry for Hirschsprung Disease of the BELAPS
NCT04624334	Not specified	TERMINATED	Non-invasive Assessment of Colonic Motility
NCT04713085	Not specified	COMPLETED	Sacral Neuromodulation in Children and Adolescents
NCT04730128	Not specified	COMPLETED	Translation and Validation of a Disease-specific Questionnaire for Hirschsprung’s Disease in Danish Patients
NCT04837963	Not specified	COMPLETED	Does Hirschsprung Disease Increase the Risk of Febrile Urinary Tract Infection in Children
NCT04957667	Not specified	COMPLETED	Scintigraphic Defecography for Evaluation of Functional Outcome in an Adult Hirschsprung Population
NCT05038345	Not specified	TERMINATED	Hirschsprung Disease Trends in the United States: Analysis of the National Inpatient Sample
NCT05044741	Not specified	COMPLETED	Risk Factors of Perforated HSCR in Neonates
NCT05293353	Not specified	UNKNOWN	Neokare Safety and Tolerability Assessment in Neonates With GI Problems
NCT05307419	Not specified	UNKNOWN	Full Thickness vs. Rectal Suction Biopsy in the Diagnosis of Hirschsprungs Disease
NCT05450991	Not specified	RECRUITING	Long-term Qualitative and Quantitative Outcomes of Children With Hirschsprung’s Disease and Anorectal Malformations
NCT05655845	Not specified	UNKNOWN	Risk Factors for Bowel Dysfunction at Preschool and Early Childhood Age in Children With Hirschsprung Disease
NCT06072976	Not specified	RECRUITING	The Influence of Feeding Source on the Gut Microbiome and Time to Full Feeds in Neonates With Congenital Gastrointestinal Pathologies