ARHGAP15

Summary

ARHGAP15 (Rho GTPase activating protein 15, HGNC:21030) is a protein-coding gene on chromosome 2q22.2-q22.3, encoding Rho GTPase-activating protein 15 (Q53QZ3). GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state.

RHO GTPases (see ARHA; MIM 165390) regulate diverse biologic processes, and their activity is regulated by RHO GTPase-activating proteins (GAPs), such as ARHGAP15 (Seoh et al., 2003 [PubMed 12650940]).

Source: NCBI Gene 55843 — RefSeq curated summary.

At a glance

• GWAS associations: 69
• Clinical variants (ClinVar): 100 total — 6 pathogenic, 1 likely-pathogenic
• MANE Select transcript: NM_018460

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21030
Approved symbol	ARHGAP15
Name	Rho GTPase activating protein 15
Location	2q22.2-q22.3
Locus type	gene with protein product
Status	Approved
Aliases	BM046
Ensembl gene	ENSG00000075884
Ensembl biotype	protein_coding
OMIM	610578
Entrez	55843

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 7 protein_coding, 6 protein_coding_CDS_not_defined, 5 retained_intron

ENST00000295095, ENST00000409869, ENST00000419455, ENST00000460776, ENST00000469117, ENST00000474474, ENST00000548242, ENST00000548800, ENST00000548929, ENST00000549060, ENST00000549436, ENST00000552289, ENST00000552641, ENST00000906468, ENST00000906469, ENST00000906470, ENST00000906471, ENST00000944446

RefSeq mRNA: 1 — MANE Select: NM_018460 NM_018460

CCDS: CCDS2184

Canonical transcript exons

ENST00000295095 — 14 exons

Exon	Start	End
ENSE00001070361	143703419	143703524
ENSE00001273181	143767989	143768352
ENSE00001273264	143129419	143129466
ENSE00003471675	143436913	143437042
ENSE00003489538	143624133	143624267
ENSE00003498562	143487373	143487495
ENSE00003514370	143202134	143202202
ENSE00003554709	143216384	143216445
ENSE00003600571	143228581	143228668
ENSE00003601785	143155477	143155655
ENSE00003605915	143250511	143250600
ENSE00003662055	143519266	143519364
ENSE00003671713	143556408	143556485
ENSE00003686464	143435601	143435699

Expression profiles

Bgee: expression breadth ubiquitous, 207 present calls, max score 96.92.

FANTOM5 (CAGE): breadth broad, TPM avg 24.2935 / max 824.0226, expressed in 541 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
22809	21.9760	527
22813	0.7432	79
22812	0.5571	63
22811	0.4706	62
202412	0.2606	114
22824	0.1933	97
22823	0.0599	35
22822	0.0329	16

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	96.92	gold quality
bone marrow cell	CL:0002092	95.86	gold quality
granulocyte	CL:0000094	95.65	gold quality
bone marrow	UBERON:0002371	94.60	gold quality
lymph node	UBERON:0000029	94.46	gold quality
tibial nerve	UBERON:0001323	94.10	gold quality
spleen	UBERON:0002106	93.83	gold quality
leukocyte	CL:0000738	93.51	gold quality
mononuclear cell	CL:0000842	93.21	gold quality
monocyte	CL:0000576	93.19	gold quality
olfactory bulb	UBERON:0002264	92.59	gold quality
sural nerve	UBERON:0015488	92.32	gold quality
vermiform appendix	UBERON:0001154	91.63	gold quality
colonic epithelium	UBERON:0000397	91.38	gold quality
calcaneal tendon	UBERON:0003701	90.79	gold quality
gall bladder	UBERON:0002110	89.38	gold quality
caecum	UBERON:0001153	89.10	gold quality
superficial temporal artery	UBERON:0001614	86.73	gold quality
thymus	UBERON:0002370	86.40	gold quality
trabecular bone tissue	UBERON:0002483	86.19	gold quality
rectum	UBERON:0001052	85.51	gold quality
dorsal root ganglion	UBERON:0000044	84.99	gold quality
omental fat pad	UBERON:0010414	84.08	gold quality
peritoneum	UBERON:0002358	83.96	gold quality
tonsil	UBERON:0002372	83.58	gold quality
adipose tissue of abdominal region	UBERON:0007808	83.45	gold quality
right lung	UBERON:0002167	83.40	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.61	gold quality
left coronary artery	UBERON:0001626	82.35	gold quality
upper lobe of left lung	UBERON:0008952	82.10	gold quality

Single-cell (SCXA)

Detected in 18 experiment(s), a significant marker in 14.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	2924.51
E-GEOD-131882	yes	2407.38
E-HCAD-30	yes	1536.30
E-CURD-119	yes	1348.41
E-GEOD-180759	yes	1204.64
E-CURD-122	yes	57.00
E-HCAD-35	yes	42.04
E-HCAD-11	yes	31.19
E-MTAB-8410	yes	16.69
E-ANND-3	yes	15.91
E-HCAD-25	yes	15.27
E-CURD-112	yes	11.31
E-CURD-46	yes	10.72
E-HCAD-10	yes	6.24
E-MTAB-6379	no	4610.67

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

14 targeting ARHGAP15, 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-548C-3P	99.99	74.01	7587
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-488-3P	99.61	68.79	1731
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-222-5P	98.75	69.17	1242
HSA-MIR-576-3P	96.14	65.63	773

Literature-anchored findings (GeneRIF, showing 9)

• a potential regulator of Rac1 (PMID:12650940)
• ARHGAP15 is associated with acute lung injury in mice (PMID:21297076)
• ArhGAP15 plays a dual negative role in regulating small GTPase signaling, by acting at the level of the GTPase itself, as well interacting with its effector, Pak kinase. (PMID:23760270)
• FOXP3 can regulate the expression of ARHGAP15 and affects migration of glioma cells through the Rac1 signaling pathway (PMID:27862679)
• ARHGAP15 rs4662344-T ssociation with diverticular disease in Iceland and Denmark population. (PMID:28585551)
• ARHGAP15 immunoreactivity correlated with decreased risk of recurrence and improved prognosis in breast carcinoma. ARHGA15 overexpression suppressed cell proliferation and migration of MCF-7 cells. (PMID:29534468)
• ARHGAP15 might serve as a tumor suppressor during colorectal cancer progression. (PMID:29867200)
• ARHGAP15 regulates lung cancer cell proliferation and metastasis via the STAT3 pathway. (PMID:31298335)
• COLQ and ARHGAP15 are Associated with Diverticular Disease and are Expressed in the Colon. (PMID:34225052)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgap15	ENSDARG00000062349
mus_musculus	Arhgap15	ENSMUSG00000049744
rattus_norvegicus	Arhgap15	ENSRNOG00000031168
drosophila_melanogaster	RhoGAP16F	FBGN0030893
caenorhabditis_elegans		WBGENE00008006

Paralogs (3): ARHGAP9 (ENSG00000123329), ARHGAP27 (ENSG00000159314), ARHGAP12 (ENSG00000165322)

Protein

Protein identifiers

Rho GTPase-activating protein 15 — Q53QZ3 (reviewed: Q53QZ3)

Alternative names: ArhGAP15, Rho-type GTPase-activating protein 15

All UniProt accessions (2): Q53QZ3, B8ZZK0

UniProt curated annotations — full annotation on UniProt →

Function. GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has activity toward RAC1. Overexpression results in an increase in actin stress fibers and cell contraction.

Subcellular location. Cytoplasm. Membrane.

Tissue specificity. Expressed in lung, liver and lymphoid cells.

Domain organisation. The PH domain is required for localization to the membrane.

RefSeq proteins (1): NP_060930* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR001849	PH_domain	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR050729	Rho-GAP	Family

Pfam: PF00169, PF00620

UniProt features (35 total): helix 13, sequence conflict 6, modified residue 5, strand 3, domain 2, turn 2, chain 1, region of interest 1, compositionally biased region 1, site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3BYI	X-RAY DIFFRACTION	2.25

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53QZ3-F1	76.31	0.53

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 (1): 317 (arginine finger; crucial for gtp hydrolysis by stabilizing the transition state)

Post-translational modifications (5): 243, 43, 103, 196, 199

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9013149	RAC1 GTPase cycle
R-HSA-9013423	RAC3 GTPase cycle

MSigDB gene sets: 215 (showing top): WALLACE_PROSTATE_CANCER_RACE_UP, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, MODULE_255, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MODULE_317, chr2q22, GATA1_03, RYTTCCTG_ETS2_B, SABATES_COLORECTAL_ADENOMA_DN, SOX5_01, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_REGULATION_OF_CELL_SHAPE, ZHENG_BOUND_BY_FOXP3

GO Biological Process (4): small GTPase-mediated signal transduction (GO:0007264), regulation of cell shape (GO:0008360), regulation of small GTPase mediated signal transduction (GO:0051056), signal transduction (GO:0007165)

GO Molecular Function (2): GTPase activator activity (GO:0005096), protein binding (GO:0005515)

GO Cellular Component (5): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular signaling cassette	1
regulation of cell morphogenesis	1
regulation of biological quality	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1594 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP15	QTMAN	Q4AE62	716
ARHGAP15	NALF1	B1AL88	583
ARHGAP15	CDC42	P21181	581
ARHGAP15	PLEK	P08567	527
ARHGAP15	PLEK2	Q9NYT0	506
ARHGAP15	COLQ	Q9Y215	479
ARHGAP15	RNF216	Q9NWF9	447
ARHGAP15	GPR174	Q9BXC1	438
ARHGAP15	CR2	P20023	437
ARHGAP15	POU2AF1	Q16633	428
ARHGAP15	MS4A1	P08984	420
ARHGAP15	BTLA	Q7Z6A9	417
ARHGAP15	RHOJ	Q9H4E5	417
ARHGAP15	MMADHC	Q9H3L0	409
ARHGAP15	ADRB2	P07550	400

IntAct

10 interactions, top by confidence:

A	B	Type	Score
ARHGAP15	DHPS	psi-mi:“MI:0915”(physical association)	0.590
ARHGAP15	RAC1	psi-mi:“MI:0407”(direct interaction)	0.540
ARHGAP15	RAC1	psi-mi:“MI:0915”(physical association)	0.540
KDM1A	ARHGAP15	psi-mi:“MI:0915”(physical association)	0.370
LRRK2		psi-mi:“MI:0914”(association)	0.350
ARHGAP15	PGRMC1	psi-mi:“MI:0914”(association)	0.350
PRNP	ARHGAP15	psi-mi:“MI:0407”(direct interaction)	0.000

BioGRID (23): ARHGAP15 (Reconstituted Complex), DHPS (Affinity Capture-MS), ARHGAP15 (Affinity Capture-MS), RAC1 (Reconstituted Complex), ARHGAP15 (Proximity Label-MS), ARHGAP15 (Affinity Capture-MS), DHPS (Affinity Capture-MS), EDC4 (Affinity Capture-MS), BCAP29 (Affinity Capture-MS), ESYT1 (Affinity Capture-MS), PTPLAD1 (Affinity Capture-MS), MICAL2 (Affinity Capture-MS), BCAP31 (Affinity Capture-MS), PGRMC1 (Affinity Capture-MS), SCD (Affinity Capture-MS)

ESM2 similar proteins: A2CEA7, A4IF90, B0S6J3, D3ZGS3, D4A208, F1LYQ8, F1M386, F1MSG6, F1P065, F1PBJ0, G5EDB9, H2KZZ6, O14827, O43295, O43307, O75044, P27671, P28818, P46941, P70392, Q13972, Q15057, Q3UTH8, Q45FX5, Q53QZ3, Q58DL7, Q5DU57, Q5FVC7, Q5ZMM3, Q6AYC5, Q6IVG4, Q6ZQK5, Q7Z6B7, Q811M1, Q812A2, Q8C0D4, Q8CHG7, Q8IWW6, Q8T0G4, Q8TEU7

Diamond homologs: A0A0G2JTR4, A1A4S6, A2AB59, A2RUV4, A4IF90, A4II46, A6QNS3, A6X8Z5, A7KAX9, A7YY57, A8WRJ2, D3ZFJ3, E7EZG2, E7F3F0, F1LXF1, O14559, O94466, P11274, P15882, P30337, P34288, P38339, P46941, P52757, P55194, P81128, P97393, Q03070, Q08DP6, Q10164, Q12979, Q13017, Q15311, Q17QN0, Q20498, Q2M1Z3, Q3TBD2, Q3UIA2, Q52LW3, Q53QZ3

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ARHGAP15	“down-regulates activity”	RAC1	“gtpase-activating protein”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	1
Uncertain significance	74
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
148432	GRCh38/hg38 2q22.1-22.3(chr2:136937358-146681810)x1	Pathogenic
150244	GRCh38/hg38 2q22.2-22.3(chr2:143294079-147713830)x1	Pathogenic
3024617	GRCh37/hg19 2q22.2-22.3(chr2:142681355-146293674)x1	Pathogenic
4076013	GRCh37/hg19 2q22.2-22.3(chr2:143571115-145651897)x1	Pathogenic
57333	GRCh38/hg38 2q22.1-22.3(chr2:140186521-146528244)x1	Pathogenic
974580	Single allele	Pathogenic
1526903	GRCh37/hg19 2q22.1-22.3(chr2:138578298-144874187)	Likely pathogenic

SpliceAI

2860 predictions. Top by Δscore:

Variant	Effect	Δscore
2:143202199:ACTGG:A	donor_loss	1.0000
2:143202201:TGGT:T	donor_loss	1.0000
2:143202203:G:GG	donor_gain	1.0000
2:143202203:GT:G	donor_loss	1.0000
2:143202204:T:A	donor_loss	1.0000
2:143208956:G:GT	donor_gain	1.0000
2:143216378:TTGCA:T	acceptor_loss	1.0000
2:143216379:TGCAG:T	acceptor_loss	1.0000
2:143216380:GC:G	acceptor_loss	1.0000
2:143216381:CA:C	acceptor_loss	1.0000
2:143216382:A:AC	acceptor_loss	1.0000
2:143216382:A:AG	acceptor_gain	1.0000
2:143216382:AGAT:A	acceptor_gain	1.0000
2:143216383:G:GG	acceptor_gain	1.0000
2:143216383:G:T	acceptor_loss	1.0000
2:143216383:GAT:G	acceptor_gain	1.0000
2:143216383:GATG:G	acceptor_gain	1.0000
2:143216441:CTAAG:C	donor_loss	1.0000
2:143216442:TAAGG:T	donor_loss	1.0000
2:143216443:AAGG:A	donor_loss	1.0000
2:143216444:AGGT:A	donor_loss	1.0000
2:143216445:GG:G	donor_loss	1.0000
2:143216446:GTA:G	donor_loss	1.0000
2:143216447:T:A	donor_loss	1.0000
2:143228565:A:AG	acceptor_gain	1.0000
2:143228566:T:G	acceptor_gain	1.0000
2:143228572:T:A	acceptor_gain	1.0000
2:143228578:A:AG	acceptor_gain	1.0000
2:143228578:AAG:A	acceptor_gain	1.0000
2:143228579:A:AC	acceptor_loss	1.0000

AlphaMissense

3174 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:143228588:T:A	W102R	1.000
2:143228588:T:C	W102R	1.000
2:143435629:T:C	L168P	1.000
2:143487433:T:C	L255S	1.000
2:143487455:A:C	R262S	1.000
2:143487455:A:T	R262S	1.000
2:143556423:G:A	G314E	1.000
2:143556432:G:C	R317P	1.000
2:143556465:T:C	L328S	1.000
2:143624162:T:A	W345R	1.000
2:143624162:T:C	W345R	1.000
2:143624197:G:C	K356N	1.000
2:143624197:G:T	K356N	1.000
2:143216406:T:C	L86P	0.999
2:143216414:G:C	A89P	0.999
2:143228581:G:C	R99S	0.999
2:143228581:G:T	R99S	0.999
2:143228582:A:G	K100E	0.999
2:143228584:A:C	K100N	0.999
2:143228584:A:T	K100N	0.999
2:143228590:G:C	W102C	0.999
2:143228590:G:T	W102C	0.999
2:143435632:T:C	L169P	0.999
2:143435664:T:A	W180R	0.999
2:143435664:T:C	W180R	0.999
2:143487442:T:C	F258S	0.999
2:143487445:T:A	I259N	0.999
2:143487454:G:C	R262T	0.999
2:143487472:T:C	L268P	0.999
2:143519274:T:C	F279L	0.999

dbSNP variants (sampled 300 via entrez): RS1000000613 (2:143352815 A>C), RS1000002339 (2:143418317 C>G), RS1000004467 (2:143393496 G>A), RS1000005137 (2:143664439 G>C), RS1000015005 (2:143460699 C>A), RS1000022012 (2:143622867 G>A,C), RS1000022418 (2:143539951 C>T), RS1000028027 (2:143141557 A>G), RS1000028456 (2:143572985 G>A), RS1000030846 (2:143698021 T>A), RS1000031608 (2:143466381 A>G,T), RS1000033046 (2:143312381 A>C,G), RS1000035016 (2:143263980 T>C), RS1000035401 (2:143295683 C>T), RS1000036461 (2:143305957 T>C)

Disease associations

OMIM: gene MIM:610578 | disease phenotypes: MIM:235730

GenCC curated gene-disease

Mondo (1): Mowat-Wilson syndrome (MONDO:0009341)

Orphanet (1): Mowat-Wilson syndrome (Orphanet:2152)

HPO phenotypes

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

GWAS associations

69 associations (top):

Study	Trait	p-value
GCST000337_17	Quantitative traits	4.000000e-06
GCST002361_18	Smooth-surface caries	2.000000e-06
GCST002590_17	Vascular brain injury	5.000000e-06
GCST002671_3	Toenail selenium levels	4.000000e-06
GCST002706_11	Electrodermal activity	7.000000e-06
GCST002875_29	Diisocyanate-induced asthma	3.000000e-06
GCST003989_19	Chin dimples	4.000000e-15
GCST004364_28	Intelligence	3.000000e-09
GCST004364_8	Intelligence	3.000000e-09
GCST004610_46	White blood cell count	2.000000e-13
GCST004627_83	Lymphocyte count	1.000000e-17
GCST004627_84	Lymphocyte count	4.000000e-21
GCST005038_48	Allergic disease (asthma, hay fever or eczema)	2.000000e-09
GCST005194_252	Coronary artery disease	7.000000e-07
GCST005196_207	Coronary artery disease	1.000000e-07
GCST005389_3	Tooth agenesis	8.000000e-16
GCST006479_104	Diverticular disease	4.000000e-44
GCST006630_48	Diastolic blood pressure	4.000000e-13
GCST006944_31	Experiencing mood swings	3.000000e-09
GCST006979_36	Heel bone mineral density	3.000000e-11
GCST007044_7	Extremely high intelligence	5.000000e-09
GCST007060_1	Response to SSRI (symptom remission)	5.000000e-06
GCST007328_67	Alcohol consumption (drinks per week)	3.000000e-09
GCST007565_189	Morning person	5.000000e-25
GCST007565_24	Morning person	2.000000e-14
GCST007576_322	Chronotype	5.000000e-25
GCST007930_160	Medication use (agents acting on the renin-angiotensin system)	7.000000e-10
GCST008105_1	Diverticular disease	4.000000e-55
GCST008256_3	Diverticulitis	5.000000e-09
GCST008257_1	Diverticular disease	2.000000e-18

EFO canonical traits (28, from GWAS)

EFO ID	Trait name
EFO:0004338	body weight
EFO:0006800	vascular brain injury measurement
EFO:0006869	skin conductance response frequency
EFO:0006995	response to diisocyanate
EFO:0004337	intelligence
EFO:0004587	lymphocyte count
EFO:0009959	diverticular disease
EFO:0006336	diastolic blood pressure
EFO:0008475	mood instability measurement
EFO:0009270	heel bone mineral density
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0008328	chronotype measurement
EFO:0009931	Agents acting on the renin-angiotensin system use measurement
EFO:0010092	bitter alcoholic beverage consumption measurement
EFO:0010343	cholesteryl ester 18:0 measurement
EFO:0009695	household income
EFO:0008111	diet measurement
EFO:0600067	mastiha supplement exposure measurement
EFO:0004531	urate measurement
EFO:0004980	appendicular lean mass
EFO:0009749	age at first sexual intercourse measurement
EFO:0004842	eosinophil count
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0005091	monocyte count
EFO:0007990	neutrophil percentage of leukocytes
EFO:0007984	platelet component distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536990	Mowat-Wilson syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression	7
trichostatin A	affects cotreatment, decreases expression	3
Panobinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects 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, decreases expression	1
abrine	increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	increases response to substance, increases expression	1
bisphenol S	decreases methylation	1
(+)-JQ1 compound	decreases expression	1
Amiodarone	increases expression	1
Cadmium	increases abundance, increases expression	1
Carbamazepine	affects expression	1
Cisplatin	decreases expression	1
Demecolcine	increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Formaldehyde	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Nickel	increases expression	1
Phenylmercuric Acetate	affects cotreatment, decreases expression	1
Theophylline	increases expression	1
Tretinoin	increases expression	1
Vincristine	increases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	increases expression, increases abundance	1
Okadaic Acid	decreases expression	1
p-Chloromercuribenzoic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT07476417	Not specified	NOT_YET_RECRUITING	Oral Health, Dento-facial Condition and OHRQoL in Subjects With Mowat-Wilson Syndrome: an Epidemiologic Study.