P2RX6

Summary

P2RX6 (purinergic receptor P2X 6, HGNC:8538) is a protein-coding gene on chromosome 22q11.21, encoding P2X purinoceptor 6 (O15547). May act as a modulatory subunit rather than a functional channel.

The protein encoded by this gene belongs to the family of P2X receptors, which are ATP-gated ion channels and mediate rapid and selective permeability to cations. This gene is predominantly expressed in skeletal muscle, and regulated by p53. The encoded protein is associated with VE-cadherin at the adherens junctions of human umbilical vein endothelial cells. Alternative splicing results in multiple transcript variants. A related pseudogene, which is also located on chromosome 22, has been identified.

Source: NCBI Gene 9127 — RefSeq curated summary.

At a glance

• Gene–disease (curated): myopathy (Limited, GenCC)
• Clinical variants (ClinVar): 78 total — 3 pathogenic, 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_005446

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8538
Approved symbol	P2RX6
Name	purinergic receptor P2X 6
Location	22q11.21
Locus type	gene with protein product
Status	Approved
Aliases	P2XM, MGC129625, P2X6
Ensembl gene	ENSG00000099957
Ensembl biotype	protein_coding
OMIM	608077
Entrez	9127

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 11 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000401443, ENST00000413302, ENST00000422210, ENST00000432930, ENST00000442475, ENST00000452228, ENST00000469722, ENST00000487342, ENST00000591411, ENST00000880818, ENST00000958110, ENST00000958111, ENST00000958112, ENST00000958113, ENST00000958114, ENST00000958115, ENST00000958116, ENST00000958117

RefSeq mRNA: 12 — MANE Select: NM_005446 NM_001159554, NM_001349874, NM_001349875, NM_001349876, NM_001394691, NM_001394692, NM_001394693, NM_001394694, NM_001394695, NM_001394696, NM_001394697, NM_005446

CCDS: CCDS13788, CCDS54504

Canonical transcript exons

ENST00000413302 — 12 exons

Exon	Start	End
ENSE00001347509	21026420	21028008
ENSE00001881723	21015165	21015338
ENSE00003511006	21022942	21023035
ENSE00003529221	21022676	21022751
ENSE00003567732	21015942	21016092
ENSE00003606892	21023118	21023198
ENSE00003610400	21017989	21018060
ENSE00003641122	21026011	21026076
ENSE00003667669	21026252	21026329
ENSE00003679555	21025805	21025898
ENSE00003680336	21023509	21023618
ENSE00003685177	21023275	21023416

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 92.57.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gastrocnemius	UBERON:0001388	92.57	gold quality
muscle of leg	UBERON:0001383	91.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.51	gold quality
right frontal lobe	UBERON:0002810	83.36	gold quality
muscle organ	UBERON:0001630	83.33	gold quality
Brodmann (1909) area 10	UBERON:0013541	81.58	gold quality
right uterine tube	UBERON:0001302	81.22	gold quality
Brodmann (1909) area 9	UBERON:0013540	81.00	gold quality
apex of heart	UBERON:0002098	80.07	gold quality
spleen	UBERON:0002106	80.04	gold quality
anterior cingulate cortex	UBERON:0009835	79.79	gold quality
cingulate cortex	UBERON:0003027	79.77	gold quality
endometrium epithelium	UBERON:0004811	79.34	gold quality
adenohypophysis	UBERON:0002196	79.26	gold quality
pituitary gland	UBERON:0000007	79.02	gold quality
prefrontal cortex	UBERON:0000451	78.86	gold quality
right hemisphere of cerebellum	UBERON:0014890	78.62	gold quality
right adrenal gland	UBERON:0001233	78.08	gold quality
cerebellar hemisphere	UBERON:0002245	77.90	gold quality
right adrenal gland cortex	UBERON:0035827	77.82	gold quality
cerebellar cortex	UBERON:0002129	77.76	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	77.39	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.67	gold quality
right testis	UBERON:0004534	76.64	gold quality
left testis	UBERON:0004533	76.59	gold quality
right coronary artery	UBERON:0001625	76.31	gold quality
left adrenal gland cortex	UBERON:0035825	75.70	gold quality
right atrium auricular region	UBERON:0006631	75.62	gold quality
left adrenal gland	UBERON:0001234	75.60	gold quality
cerebellum	UBERON:0002037	75.42	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.08

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TP53

miRNA regulators (miRDB)

44 targeting P2RX6, 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-7110-3P	100.00	73.18	2486
HSA-MIR-3162-3P	100.00	65.37	363
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-3065-3P	99.87	70.25	1407
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-5580-5P	99.38	66.96	1139
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-637	97.91	64.05	1517

Literature-anchored findings (GeneRIF, showing 3)

• Results show that P2X4 and P2X6 receptors are associated with VE-cadherin at HUVEC adherens junctions. (PMID:12088286)
• P2X(2) receptors are trimers, whereas the P2X(6) receptor subunits do not form stable oligomers (PMID:15657042)
• one subunit of P2X2 and two subunits of P2X3 form P2X2/3 heteromeric receptors, whereas two subunits of P2X2 and one subunit of P2X6 constitute P2X2/6 receptors (PMID:22378790)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	P2rx6	ENSMUSG00000022758
rattus_norvegicus	P2rx6	ENSRNOG00000001873

Paralogs (6): P2RX5 (ENSG00000083454), P2RX7 (ENSG00000089041), P2RX1 (ENSG00000108405), P2RX3 (ENSG00000109991), P2RX4 (ENSG00000135124), P2RX2 (ENSG00000187848)

Protein

Protein identifiers

P2X purinoceptor 6 — O15547 (reviewed: O15547)

Alternative names: ATP receptor, P2XM, Purinergic receptor, Purinergic receptor P2X-like 1

All UniProt accessions (5): O15547, E7ES48, H7C140, H7C266, H7C2V4

UniProt curated annotations — full annotation on UniProt →

Function. May act as a modulatory subunit rather than a functional channel. Unlike other P2XRs members, P2RX6 does not seem to form functional homotrimers. P2RX6 requires the presence of P2RX4 or P2RX2 to shuttle it to the plasma membrane where it may form functional heterotrimeric receptors at the plasma membrane. P2RX6 can be translocated to the nucleus and functions as a nuclear regulator of post-transcriptional modifications in neurons.

Subunit / interactions. Monomer. Unlike, all of the other P2RX subunits, P2RX6 does not seem to form functional homotrimers. Forms heterotrimer with P2RX2; with characteristics clearly different from those of P2RX2 homomeric receptors. Forms heterotrimer with P2RX4; functional differences between homomeric P2RX4 and P2RX4/6 heterotrimer are minor. Forms a P2RX2/P2RX4/P2RX6 heterotrimer. Interacts with SF3A1; resulting in a reduction of the splicing activity.

Subcellular location. Cell membrane. Endoplasmic reticulum. Nucleus. Nucleus inner membrane.

Tissue specificity. Expressed predominantly in skeletal muscle.

Post-translational modifications. N-glycosylated. N-linked glycosylation can affect trafficking to the membrane and function.

Domain organisation. An uncharged region within the N terminus of the P2RX6 subunit inhibits its assembly and exit from the endoplasmic reticulum. The P2RX6 subunit lacks nine residues in the left flipper, a flexible loop structure, which is a key element in the activation of P2RXs.

Similarity. Belongs to the P2X receptor family.

Isoforms (2)

UniProt ID	Names	Canonical?
O15547-1	1	yes
O15547-2	2

RefSeq proteins (12): NP_001153026, NP_001336803, NP_001336804, NP_001336805, NP_001381620, NP_001381621, NP_001381622, NP_001381623, NP_001381624, NP_001381625, NP_001381626, NP_005437* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001429	P2X_purnocptor	Family
IPR003049	P2X6_purnocptor	Family
IPR027309	P2X_extracellular_dom_sf	Homologous_superfamily
IPR053792	P2X_RECEPTOR_CS	Conserved_site
IPR059116	P2X_receptor	Family

Pfam: PF00864

Catalyzed reactions (Rhea), 1 shown:

• Ca(2+)(in) = Ca(2+)(out) (RHEA:29671)

UniProt features (22 total): disulfide bond 5, topological domain 3, glycosylation site 3, sequence variant 2, transmembrane region 2, compositionally biased region 2, chain 1, splice variant 1, sequence conflict 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15547-F1	83.89	0.58

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): 64

Disulfide bonds (5): 127–177, 138–161, 144–171, 228–238, 272–281

Glycosylation sites (3): 165, 195, 210

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-139853	Elevation of cytosolic Ca2+ levels
R-HSA-418346	Platelet homeostasis

MSigDB gene sets: 154 (showing top): RNGTGGGC_UNKNOWN, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, AP1_01, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_CELL_CELL_SIGNALING, JAZAG_TGFB1_SIGNALING_DN, AP1_Q4_01, GOBP_MUSCLE_CONTRACTION, GOBP_REGULATION_OF_POSTSYNAPTIC_MEMBRANE_POTENTIAL, TGCTGAY_UNKNOWN, BACH2_01, KEGG_NEUROACTIVE_LIGAND_RECEPTOR_INTERACTION, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_RESPONSE_TO_ATP

GO Biological Process (9): muscle contraction (GO:0006936), signal transduction (GO:0007165), response to ATP (GO:0033198), calcium ion transmembrane transport (GO:0070588), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), purinergic nucleotide receptor signaling pathway (GO:0035590), excitatory postsynaptic potential (GO:0060079), monoatomic cation transmembrane transport (GO:0098655)

GO Molecular Function (7): purinergic nucleotide receptor activity (GO:0001614), transmembrane signaling receptor activity (GO:0004888), extracellularly ATP-gated monoatomic cation channel activity (GO:0004931), ATP binding (GO:0005524), channel activity (GO:0015267), protein-containing complex binding (GO:0044877), monoatomic ion channel activity (GO:0005216)

GO Cellular Component (15): nuclear inner membrane (GO:0005637), cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), cell junction (GO:0030054), neuronal cell body (GO:0043025), dendritic spine (GO:0043197), signaling receptor complex (GO:0043235), parallel fiber to Purkinje cell synapse (GO:0098688), glutamatergic synapse (GO:0098978), postsynaptic specialization membrane (GO:0099634), nucleus (GO:0005634), endoplasmic reticulum (GO:0005783), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Platelet calcium homeostasis	1
Hemostasis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular membrane-bounded organelle	2
muscle system process	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
response to purine-containing compound	1
response to organophosphorus	1
response to oxygen-containing compound	1
calcium ion transport	1
monoatomic cation transmembrane transport	1
transport	1
monoatomic ion transport	1
transmembrane transport	1
cell surface receptor signaling pathway	1
regulation of postsynaptic membrane potential	1
chemical synaptic transmission, postsynaptic	1
monoatomic cation transport	1
monoatomic ion transmembrane transport	1
nucleotide receptor activity	1
purine nucleotide binding	1
purinergic nucleotide receptor signaling pathway	1
signaling receptor activity	1
excitatory extracellular ligand-gated monoatomic ion channel activity	1
ATP-gated ion channel activity	1
ligand-gated monoatomic cation channel activity	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
passive transmembrane transporter activity	1
binding	1
monoatomic ion transmembrane transporter activity	1
channel activity	1
organelle inner membrane	1
nuclear membrane	1
intracellular anatomical structure	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1

Protein interactions and networks

STRING

824 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
P2RX6	P2RX2	Q9UBL9	962
P2RX6	P2RX1	P51575	954
P2RX6	P2RX4	Q99571	931
P2RX6	P2RX3	P56373	930
P2RX6	P2RY4	P51582	804
P2RX6	P2RY13	Q9BPV8	784
P2RX6	P2RY2	P41231	768
P2RX6	P2RY6	Q15077	756
P2RX6	P2RY11	Q96G91	752
P2RX6	A0A0B4J1V8	A0A0B4J1V8	748
P2RX6	P2RY14	Q15391	731
P2RX6	P2RX5	Q93086	713
P2RX6	P2RY12	Q9H244	621
P2RX6	P2RY1	P47900	590
P2RX6	AIFM3	Q96NN9	532

IntAct

6 interactions, top by confidence:

A	B	Type	Score
P2RX6	DNAJB5	psi-mi:“MI:0914”(association)	0.530
P2RX6	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
P2RX6	A2ML1	psi-mi:“MI:0914”(association)	0.350
P2RX6	GET4	psi-mi:“MI:0914”(association)	0.350

BioGRID (65): DNAJB5 (Affinity Capture-MS), DNAJB4 (Affinity Capture-MS), BAG5 (Affinity Capture-MS), DNAJB5 (Affinity Capture-MS), BAG5 (Affinity Capture-MS), DNAJB4 (Affinity Capture-MS), P2RX6 (Phenotypic Suppression), DNAJB4 (Affinity Capture-MS), BAG5 (Affinity Capture-MS), DNAJB5 (Affinity Capture-MS), IGHG3 (Affinity Capture-MS), EVPL (Affinity Capture-MS), ARL8B (Affinity Capture-MS), CBR1 (Affinity Capture-MS), NAGK (Affinity Capture-MS)

ESM2 similar proteins: A0A3Q1LRJ2, A6ND01, B8JI67, E1B9E5, F1M928, O15547, P02702, P02752, P0DJF3, P0DN42, P10820, P14207, P15328, P16229, P27767, P35846, P41439, P48251, P51653, P86009, Q05685, Q3HRV3, Q3S2X5, Q3UPR9, Q3V5L5, Q4TUC0, Q5EA85, Q5FB95, Q5M936, Q62178, Q62190, Q64663, Q64716, Q6DFV8, Q765H6, Q7TPG6, Q7Z5A8, Q8BMN4, Q8IVN8, Q8N2E2

Diamond homologs: F8W463, O15547, O54803, O70397, P47824, P49653, P49654, P51575, P51576, P51577, P51578, P51579, P56373, Q3UR32, Q5E9U1, Q64663, Q8K3P1, Q91VE2, Q93086, Q99571, Q99572, Q9JJX6, Q9UBL9, Q9Z1M0, Q86JM7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	61
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1340542	GRCh37/hg19 22q11.21(chr22:20728957-21915096)x1	Pathogenic
1703640	GRCh37/hg19 22q11.21(chr22:18644790-21798907)	Pathogenic
394333	GRCh37/hg19 22q11.21(chr22:21044196-21440455)x4	Pathogenic
564998	GRCh37/hg19 22q11.21(chr22:21075675-21465662)x1	Likely pathogenic

SpliceAI

1835 predictions. Top by Δscore:

Variant	Effect	Δscore
22:21015334:GTAGG:G	donor_gain	1.0000
22:21022937:TCTA:T	acceptor_loss	1.0000
22:21022940:A:AG	acceptor_gain	1.0000
22:21022941:G:GG	acceptor_gain	1.0000
22:21022941:GGT:G	acceptor_gain	1.0000
22:21023036:G:GG	donor_gain	1.0000
22:21023199:G:GG	donor_gain	1.0000
22:21023270:CCCA:C	acceptor_loss	1.0000
22:21023271:CCA:C	acceptor_loss	1.0000
22:21023272:CAGG:C	acceptor_loss	1.0000
22:21023273:A:T	acceptor_loss	1.0000
22:21025796:T:TA	acceptor_gain	1.0000
22:21025801:ACAG:A	acceptor_gain	1.0000
22:21025802:C:G	acceptor_gain	1.0000
22:21025803:A:AG	acceptor_gain	1.0000
22:21025803:AG:A	acceptor_gain	1.0000
22:21025804:G:GA	acceptor_gain	1.0000
22:21025804:GG:G	acceptor_gain	1.0000
22:21025804:GGA:G	acceptor_gain	1.0000
22:21025804:GGAC:G	acceptor_gain	1.0000
22:21025804:GGACA:G	acceptor_gain	1.0000
22:21025896:C:T	donor_gain	1.0000
22:21025896:CAG:C	donor_loss	1.0000
22:21025897:AG:A	donor_loss	1.0000
22:21025898:GG:G	donor_loss	1.0000
22:21025899:GT:G	donor_loss	1.0000
22:21025900:T:G	donor_loss	1.0000
22:21015261:G:GG	donor_gain	0.9900
22:21015336:AGGG:A	donor_loss	0.9900
22:21015337:GG:G	donor_gain	0.9900

AlphaMissense

2863 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:21023176:T:C	F206L	0.993
22:21023178:C:A	F206L	0.993
22:21023178:C:G	F206L	0.993
22:21023006:G:C	W176C	0.991
22:21023006:G:T	W176C	0.991
22:21022959:T:A	C161S	0.990
22:21022960:G:C	C161S	0.990
22:21023538:G:C	W270C	0.989
22:21023538:G:T	W270C	0.989
22:21022718:T:A	C144S	0.986
22:21022719:G:C	C144S	0.986
22:21023185:T:C	F209L	0.986
22:21023187:C:A	F209L	0.986
22:21023187:C:G	F209L	0.986
22:21022989:T:A	C171S	0.985
22:21022990:G:A	C171Y	0.985
22:21022990:G:C	C171S	0.985
22:21023007:T:A	C177S	0.983
22:21023008:G:C	C177S	0.983
22:21016017:A:C	K80N	0.982
22:21016017:A:T	K80N	0.982
22:21018052:T:A	C127S	0.981
22:21018053:G:C	C127S	0.981
22:21022700:T:A	C138S	0.981
22:21022701:G:C	C138S	0.981
22:21022702:C:G	C138W	0.981
22:21022959:T:C	C161R	0.981
22:21023358:T:C	F241S	0.980
22:21025867:G:A	G318E	0.979
22:21026320:G:C	K373N	0.978

dbSNP variants (sampled 300 via entrez): RS1000168107 (22:21012780 C>T), RS1000193781 (22:21019764 G>C), RS1000227427 (22:21009343 C>T), RS1000476368 (22:21014262 T>G), RS1000529205 (22:21018770 G>A), RS1000564618 (22:21010512 G>A), RS1001013939 (22:21024571 C>T), RS1001300489 (22:21028271 A>G), RS1001411137 (22:21022465 G>A,T), RS1001843673 (22:21021763 A>G), RS1001904949 (22:21020518 C>T), RS1002075456 (22:21016405 C>G,T), RS1002108004 (22:21016191 G>A), RS1002200552 (22:21009588 T>C,G), RS1002267283 (22:21011415 G>A)

Disease associations

OMIM: gene MIM:608077 | disease phenotypes: MIM:188400

GenCC curated gene-disease

Disease	Classification	Inheritance
myopathy	Limited	Autosomal recessive

Mondo (2): DiGeorge syndrome (MONDO:0008564), myopathy (MONDO:0005336)

Orphanet (1): 22q11.2 deletion syndrome (Orphanet:567)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D004062	DiGeorge Syndrome	C05.660.207.103.500; C14.240.400.021.500; C14.280.400.044.500; C15.604.451.249.500; C16.131.077.019.500; C16.131.240.400.021.500; C16.131.260.019.500; C16.131.482.249.500; C16.131.621.207.103.500; C16.320.180.019.500; C19.642.482.500.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL2670 (SINGLE PROTEIN), CHEMBL4524012 (PROTEIN FAMILY)

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: lgic — P2X receptors

Most potent curated ligand interactions (1 total), top 1:

Ligand	Action	Affinity	Parameter
ATP	Agonist	6.0	pEC50

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
sotorasib	affects cotreatment, increases expression	1
beta-lapachone	decreases expression	1
abrine	decreases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Arsenic	increases expression, affects cotreatment, decreases expression, increases abundance	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases methylation	1
Estradiol	affects cotreatment, decreases expression	1
Lead	affects expression	1
Ozone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Okadaic Acid	decreases expression	1

ChEMBL screening assays

4 unique, capped per target: 2 functional, 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1069598	Functional	Antagonist activity at P2X6 receptor	Discovery and optimization of RO-85, a novel drug-like, potent, and selective P2X3 receptor antagonist. — Bioorg Med Chem Lett
CHEMBL4339641	Binding	Negative allosteric modulation of human P2X expressed in Xenopus laevis oocytes assessed as inhibition of ATP-induced current response at 30 uM at -40 mV holding potential by two-electrode voltage clamp method relative to ATP alone	Di-aryl Sulfonamide Motif Adds π-Stacking Bulk in Negative Allosteric Modulators of the NMDA Receptor. — ACS Med Chem Lett

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00120055	PHASE4	COMPLETED	Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity
NCT03633565	PHASE4	UNKNOWN	Comparative Study of Strategies for Management of Duchenne Myopathy (DM)
NCT01225614	PHASE3	UNKNOWN	Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive
NCT00395538	PHASE3	TERMINATED	Effects of PTH Replacement on Bone in Hypoparathyroidism
NCT00576407	PHASE2	COMPLETED	Thymus Transplantation in DiGeorge Syndrome #668
NCT00576836	PHASE2	COMPLETED	Thymus Transplantation Dose in DiGeorge #932
NCT01821781	PHASE2	ACTIVE_NOT_RECRUITING	Immune Disorder HSCT Protocol
NCT05149898	PHASE2	COMPLETED	Open-Label Study of ZYN002 Administered as a Transdermal Gel to Children and Adolescents With 22q11.2 Deletion Syndrome (INSPIRE)
NCT07284641	PHASE2	RECRUITING	Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
NCT00278564	PHASE1	TERMINATED	Stem Cell Transplantation in Idiopathic Inflammatory Myopathy Diseases
NCT00566488	PHASE1	COMPLETED	Parathyroid and Thymus Transplantation in DiGeorge #931
NCT00579709	PHASE1	COMPLETED	Thymus Transplantation With Immunosuppression
NCT00849888	PHASE1	TERMINATED	Serum-Free Thymus Transplantation in DiGeorge Anomaly
NCT02895906	PHASE1	COMPLETED	Safety and Efficacy Study of NFC-1 in Subjects Aged 12-17 Years With 22q11.2DS & Associated Neuropsychiatric Conditions
NCT01642056	PHASE1/PHASE2	COMPLETED	EPI-743 for Metabolism or Mitochondrial Disorders
NCT02124070	PHASE1/PHASE2	WITHDRAWN	Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis
NCT00549029	Not specified	UNKNOWN	The Association of Genetic Polymorphisms With Statin-Induced Myopathy.
NCT00767130	Not specified	UNKNOWN	DNA Diagnostic System for Statin Safety and Efficacy
NCT00922428	Not specified	COMPLETED	PASCOE-Agil HOM-Injektopas in the Treatment of Rheumatic Disorders
NCT00937001	Not specified	ACTIVE_NOT_RECRUITING	Critical Illness Myopathy as a Cause of Debilitating ICU-Acquired Weakness
NCT00990834	Not specified	WITHDRAWN	Muscle Characteristics Associated With Statin Therapy
NCT01022450	Not specified	UNKNOWN	Study of the Causes of the Breakdown of Muscle Fibers in Hospitalized Patients
NCT01040650	Not specified	TERMINATED	Metabolic Features of Post-Myopathy Patients Associated With Statin Treatment
NCT01047163	Not specified	COMPLETED	Maintenance of Muscle Mass in Older People: the Negative Impact of Statin Therapy
NCT01270269	Not specified	COMPLETED	ACT-ICU Study: Activity and Cognitive Therapy in the Intensive Care Unit
NCT01353430	Not specified	RECRUITING	Characterization of Inclusion Body Myopathy Associated With Paget’s Disease of Bone and Frontotemporal Dementia (IBMPFD)
NCT01395563	Not specified	WITHDRAWN	Strength Training on Pancreatic Cancer
NCT01530841	Not specified	COMPLETED	Efficacy and Tolerance of AVAPS Mode in Myotonic Dystrophy
NCT01547767	Not specified	COMPLETED	Investigations Into ISCU Myopathy or Iron Sulfur Scaffold U Protein Myopathy
NCT01702987	Not specified	COMPLETED	Evaluation of Ubiquinol on Mitochondrial Oxidative Capacity in Statin Patients Using 31PMRS
NCT01790178	Not specified	COMPLETED	Ultrasound in Muscle Biopsy
NCT02011282	Not specified	COMPLETED	Electro-Neuro-Muscular Stimulation in ICU
NCT02104921	Not specified	COMPLETED	Innovative Ultrasound Technology in Neuromuscular Disease
NCT02118805	Not specified	COMPLETED	Innovative Measures of Speech and Swallowing Dysfunction in Neurological Disorders
NCT02235220	Not specified	UNKNOWN	Reduction of Masticatory Muscle Activity by Restoring Canine Guidance
NCT02247895	Not specified	TERMINATED	Treatment of Muscle Weakness in Critically Ill Patients
NCT02315339	Not specified	TERMINATED	European Home Mechanical Ventilation Registry
NCT02442986	Not specified	COMPLETED	Neurological Outcome in Surgical and Non-surgical Septic Patients
NCT02706314	Not specified	COMPLETED	Impact of Human Blood Serum From Critically Ill Patients on Human Colon Neuronal Networks.
NCT02765828	Not specified	COMPLETED	Identification of Tongue Involvement in Late-Onset Pompe Disease