ARHGAP10

Summary

ARHGAP10 (Rho GTPase activating protein 10, HGNC:26099) is a protein-coding gene on chromosome 4q31.23, encoding Rho GTPase-activating protein 10 (A1A4S6). GTPase-activating protein that catalyzes the conversion of active GTP-bound Rho GTPases to their inactive GDP-bound form, thus suppressing various Rho GTPase-mediated cellular processes.

Predicted to enable GTPase activator activity. Predicted to be involved in cytoskeleton organization and negative regulation of apoptotic process. Located in cytosol and endosome membrane.

Source: NCBI Gene 79658 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 189 total — 2 pathogenic, 3 likely-pathogenic
• MANE Select transcript: NM_024605

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26099
Approved symbol	ARHGAP10
Name	Rho GTPase activating protein 10
Location	4q31.23
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20896, FLJ41791, GRAF2
Ensembl gene	ENSG00000071205
Ensembl biotype	protein_coding
OMIM	609746
Entrez	79658

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 15 protein_coding, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000336498, ENST00000506020, ENST00000506054, ENST00000507661, ENST00000510076, ENST00000510379, ENST00000513548, ENST00000907164, ENST00000907165, ENST00000907166, ENST00000907167, ENST00000907168, ENST00000907169, ENST00000959968, ENST00000959969, ENST00000959970, ENST00000959971, ENST00000959972, ENST00000959973, ENST00000959974

RefSeq mRNA: 1 — MANE Select: NM_024605 NM_024605

CCDS: CCDS34075

Canonical transcript exons

ENST00000336498 — 23 exons

Exon	Start	End
ENSE00001798250	147866712	147866816
ENSE00002019820	148071993	148072776
ENSE00002436884	147864846	147864956
ENSE00002481664	147857553	147857654
ENSE00003485738	147847151	147847222
ENSE00003498875	147913074	147913139
ENSE00003514516	147965024	147965129
ENSE00003518063	147939825	147939899
ENSE00003524499	147946617	147946704
ENSE00003554257	148064416	148064507
ENSE00003580857	147875021	147875150
ENSE00003584118	148063148	148063300
ENSE00003587709	147909732	147909777
ENSE00003634246	147881838	147881932
ENSE00003640235	147879232	147879338
ENSE00003661668	147906638	147906719
ENSE00003663702	147966680	147966839
ENSE00003664974	147822727	147822822
ENSE00003675143	147822896	147822957
ENSE00003685171	148023263	148023413
ENSE00003685582	148046892	148047051
ENSE00003691582	147732088	147732455
ENSE00003692909	147955316	147955374

Expression profiles

Bgee: expression breadth ubiquitous, 202 present calls, max score 97.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.8310 / max 331.4501, expressed in 1719 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49944	16.5027	1712
49943	1.5662	977
49945	0.4829	225
49946	0.1853	58
49958	0.0939	43

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	97.36	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.29	gold quality
lower esophagus	UBERON:0013473	96.28	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.18	gold quality
right coronary artery	UBERON:0001625	95.54	gold quality
lower esophagus mucosa	UBERON:0035834	95.31	gold quality
popliteal artery	UBERON:0002250	95.26	gold quality
tibial artery	UBERON:0007610	95.23	gold quality
sural nerve	UBERON:0015488	95.10	gold quality
aorta	UBERON:0000947	94.98	gold quality
thoracic aorta	UBERON:0001515	94.94	gold quality
ascending aorta	UBERON:0001496	94.93	gold quality
left coronary artery	UBERON:0001626	94.67	gold quality
tibial nerve	UBERON:0001323	94.25	gold quality
calcaneal tendon	UBERON:0003701	93.97	gold quality
descending thoracic aorta	UBERON:0002345	93.78	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.60	gold quality
coronary artery	UBERON:0001621	93.54	gold quality
esophagus	UBERON:0001043	93.30	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.57	gold quality
left uterine tube	UBERON:0001303	91.88	gold quality
blood vessel layer	UBERON:0004797	91.84	gold quality
right ovary	UBERON:0002118	91.64	gold quality
heart left ventricle	UBERON:0002084	91.55	gold quality
apex of heart	UBERON:0002098	91.46	gold quality
gastrocnemius	UBERON:0001388	91.45	gold quality
left ovary	UBERON:0002119	91.41	gold quality
muscle of leg	UBERON:0001383	91.36	gold quality
ectocervix	UBERON:0012249	91.15	gold quality
cardiac ventricle	UBERON:0002082	91.06	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-MTAB-7381	yes	278.90
E-CURD-119	yes	26.92
E-GEOD-135922	yes	25.57
E-ANND-3	yes	16.27
E-CURD-112	yes	14.02
E-HCAD-35	yes	10.35
E-MTAB-6678	yes	5.06
E-MTAB-6058	no	67.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

41 targeting ARHGAP10, 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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-6758-3P	99.57	67.55	1078
HSA-MIR-582-5P	99.47	70.79	2635
HSA-MIR-5695	99.41	67.48	1047
HSA-MIR-4797-5P	99.39	68.01	1354
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-760	98.81	66.65	1392
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051

Literature-anchored findings (GeneRIF, showing 6)

• PS-GAP is a novel regulator of caspase-activated PAK-2 (PMID:15471851)
• In the Australian GWAS, one SNP achieved genomewide significance (p < 5 x 10(-8)) for ND (rs964170 in ARHGAP10 on chromosome 4, p = 4.43 x 10(-8)). (PMID:20158304)
• ARHGAP10 may serve as a tumor suppressor through inactivating Cdc42, as well as inhibiting cell cycle, replication and BER pathways. (PMID:27010858)
• miR3373p inhibits gastric tumor metastasis by targeting ARHGAP10. (PMID:31789419)
• GRAF2, WDR44, and MICAL1 mediate Rab8/10/11-dependent export of E-cadherin, MMP14, and CFTR DeltaF508. (PMID:32344433)
• ARHGAP10, which encodes Rho GTPase-activating protein 10, is a novel gene for schizophrenia risk. (PMID:32699248)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgap10	ENSDARG00000078326
mus_musculus	Arhgap10	ENSMUSG00000037148
rattus_norvegicus	Arhgap10	ENSRNOG00000013152
drosophila_melanogaster	Graf	FBGN0030685
caenorhabditis_elegans		WBGENE00020209

Paralogs (3): OPHN1 (ENSG00000079482), ARHGAP26 (ENSG00000145819), ARHGAP42 (ENSG00000165895)

Protein

Protein identifiers

Rho GTPase-activating protein 10 — A1A4S6 (reviewed: A1A4S6)

Alternative names: GTPase regulator associated with focal adhesion kinase 2, Graf-related protein 2, Rho-type GTPase-activating protein 10

All UniProt accessions (3): A1A4S6, A0A2X0SFB3, H0Y8W5

UniProt curated annotations — full annotation on UniProt →

Function. GTPase-activating protein that catalyzes the conversion of active GTP-bound Rho GTPases to their inactive GDP-bound form, thus suppressing various Rho GTPase-mediated cellular processes. Also converts Cdc42 to an inactive GDP-bound state. Essential for PTKB2 regulation of cytoskeletal organization via Rho family GTPases. Inhibits PAK2 proteolytic fragment PAK-2p34 kinase activity and changes its localization from the nucleus to the perinuclear region. Stabilizes PAK-2p34 thereby increasing stimulation of cell death. Associates with MICAL1 on the endosomal membrane to promote Rab8-Rab10-dependent tubule extension. After dissociation with MICAL1, recruits WDR44 which connects the endoplasmic reticulum (ER) with the endosomal tubule, thereby participating in the export of a subset of neosynthesized proteins.

Subunit / interactions. Interacts with PKN3. Interacts with caspase-activated PAK2 proteolytic fragment PAK-2p34; the interaction does not affect GRAF2/ARHGAP10 GTPase activation activity towards RHOA and CDC42. Interacts via its SH3 domain with PTK2/FAK1. Interacts with PTK2B/PYK2; the interaction negatively regulates GRAF2/ARHGAP10 GTPase-activating activity. Interacts with MICAL1 and WDR44; complex formation might transit from GRAF2/ARHGAP10-MICAL1 to GRAF2/ARHGAP10-WDR44 complexes.

Subcellular location. Cytoplasm. Perinuclear region. Cell membrane. Endosome membrane.

Tissue specificity. High levels of expression in heart and skeletal muscle.

Post-translational modifications. Phosphorylated. Phosphorylated in vitro by constitutive active PKN3.

Domain organisation. The BAR domain is important to associate RAB8A (or RAB8B) and RAB10 to endosomal membrane to promote tubule extension. The BAR domain is also important to recruit WDR44 to endosomal tubules.

RefSeq proteins (1): NP_078881* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR001452	SH3_domain	Domain
IPR001849	PH_domain	Domain
IPR004148	BAR_dom	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR035485	GRAF2_SH3	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR047225	PH_GRAF	Domain
IPR047234	GRAF_fam	Family

Pfam: PF00169, PF00620, PF14604, PF16746

UniProt features (24 total): strand 7, domain 4, compositionally biased region 4, sequence variant 2, sequence conflict 2, region of interest 2, chain 1, site 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2MIO	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1A4S6-F1	80.30	0.60

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

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-211728	Regulation of PAK-2p34 activity by PS-GAP/RHG10
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle

MSigDB gene sets: 120 (showing top): GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, REACTOME_APOPTOSIS, GOBP_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOMF_ENZYME_ACTIVATOR_ACTIVITY, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY, HAMAI_APOPTOSIS_VIA_TRAIL_UP, CHEN_METABOLIC_SYNDROM_NETWORK, MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3

GO Biological Process (4): cytoskeleton organization (GO:0007010), signal transduction (GO:0007165), negative regulation of apoptotic process (GO:0043066), regulation of small GTPase mediated signal transduction (GO:0051056)

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

GO Cellular Component (7): cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), endosome (GO:0005768), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	3
Regulation of Apoptosis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	2
organelle organization	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
binding	1
membrane	1
cell periphery	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
intracellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

420 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP10	PKN3	Q6P5Z2	934
ARHGAP10	PAK2	Q13177	853
ARHGAP10	RHOA	P06749	712
ARHGAP10	MPP3	Q13368	587
ARHGAP10	DLG3	Q92796	576
ARHGAP10	CDC42	P21181	574
ARHGAP10	PTK2B	Q14289	507
ARHGAP10	GTPBP4	Q9BZE4	493
ARHGAP10	PTK2	Q05397	486
ARHGAP10	PLEK2	Q9NYT0	418
ARHGAP10	NCOA1	Q15788	370
ARHGAP10	ASAP2	O43150	339
ARHGAP10	FER1L5	A0AVI2	310
ARHGAP10	BIN3	Q9NQY0	305
ARHGAP10	PIK3CG	P48736	303

IntAct

30 interactions, top by confidence:

A	B	Type	Score
PKN3	ARHGAP10	psi-mi:“MI:0915”(physical association)	0.680
PKN3	ARHGAP10	psi-mi:“MI:0914”(association)	0.680
ARHGAP26	ARHGAP10	psi-mi:“MI:0914”(association)	0.510
SH3BP2	ARHGAP10	psi-mi:“MI:0915”(physical association)	0.490
ARHGAP10	SH3BP2	psi-mi:“MI:0915”(physical association)	0.490
ARHGAP10	H1-1	psi-mi:“MI:0915”(physical association)	0.400
ARHGAP10	ANKS1A	psi-mi:“MI:0915”(physical association)	0.370
FOXQ1	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ARHGAP26	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
C2CD2	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
PTK2B	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
SYT2	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
CDC37	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
P4HA3	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
SH3KBP1	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
ZCCHC10	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
PTPN12	ARHGAP10	psi-mi:“MI:2364”(proximity)	0.270
NRXN1	ARHGAP10	psi-mi:“MI:0915”(physical association)	0.000
ARHGAP26	ARHGAP10	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (43): ARHGAP10 (Affinity Capture-MS), ARHGAP10 (Two-hybrid), ARHGAP10 (Two-hybrid), ARHGAP10 (Affinity Capture-MS), ARHGAP10 (Proximity Label-MS), ARHGAP10 (Affinity Capture-MS), ARHGAP10 (Affinity Capture-MS), ARHGAP10 (Affinity Capture-MS), ARHGAP10 (Affinity Capture-MS), ARF6 (Reconstituted Complex), ARHGAP10 (Reconstituted Complex), ARHGAP10 (Affinity Capture-RNA), ARHGAP10 (Affinity Capture-RNA), ARHGAP10 (Synthetic Lethality), ARHGAP10 (Reconstituted Complex)

ESM2 similar proteins: A0A0G2JTR4, A1A4S6, A2AWA9, A4FUD6, A4II46, A6H6A9, A6QNS3, A6QQZ7, O60890, P09851, P0CAX5, P20936, P23727, P26450, P27986, P50904, Q08DP6, Q12979, Q5R372, Q5R5M3, Q5R685, Q5R6F2, Q5R8I6, Q5RCC1, Q5RCW6, Q5SSL4, Q5T2T1, Q5U2Y3, Q5ZJ17, Q5ZLX4, Q5ZMW5, Q62696, Q63787, Q6Y5D8, Q6ZQ82, Q7YQL5, Q7YQL6, Q8AVG0, Q8BPU7, Q8K0F1

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
ARHGAP10	“down-regulates activity”	RHOA	“gtpase-activating protein”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	3
Uncertain significance	138
Likely benign	8
Benign	4

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
4682608	GRCh37/hg19 4q31.23(chr4:148644749-149301795)x1	Pathogenic
687334	GRCh37/hg19 4q31.21-31.23(chr4:146118793-150492144)x1	Pathogenic
152886	GRCh38/hg38 4q31.23(chr4:147920951-148356485)x1	Likely pathogenic
562975	GRCh37/hg19 4q31.23(chr4:148916436-149103774)x1	Likely pathogenic
997080	GRCh37/hg19 4q31.23(chr4:148911418-149103259)	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

5204 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:147732323:T:C	F8L	1.000
4:147732325:C:A	F8L	1.000
4:147732325:C:G	F8L	1.000
4:147732417:T:C	L39P	1.000
4:147732438:T:C	L46P	1.000
4:147847173:T:C	L112P	1.000
4:147847197:G:C	R120T	1.000
4:147847198:A:C	R120S	1.000
4:147847198:A:T	R120S	1.000
4:148064439:C:A	A735D	1.000
4:148064475:T:C	L747S	1.000
4:148064480:T:C	F749L	1.000
4:148064482:T:A	F749L	1.000
4:148064482:T:G	F749L	1.000
4:148064499:T:C	F755S	1.000
4:148072016:T:A	W766R	1.000
4:148072016:T:C	W766R	1.000
4:148072018:G:C	W766C	1.000
4:148072018:G:T	W766C	1.000
4:148072020:T:C	L767P	1.000
4:148072025:G:A	G769R	1.000
4:148072025:G:C	G769R	1.000
4:148072025:G:T	G769W	1.000
4:148072026:G:A	G769E	1.000
4:147732324:T:C	F8S	0.999
4:147732357:G:C	R19P	0.999
4:147732387:T:C	L29P	0.999
4:147732410:A:G	K37E	0.999
4:147732411:A:T	K37I	0.999
4:147732412:A:C	K37N	0.999

dbSNP variants (sampled 300 via entrez): RS1000011233 (4:148061966 G>A), RS1000011991 (4:147777531 A>G), RS10000278 (4:147871916 T>A,C), RS1000034853 (4:147984745 A>C,G), RS1000036819 (4:147864113 G>A), RS1000051986 (4:147981026 A>G), RS1000061104 (4:148029779 G>A), RS1000062114 (4:148017017 T>A,C,G), RS1000076917 (4:147783258 T>C), RS1000098276 (4:147823088 T>A), RS1000098676 (4:147743580 C>A,T), RS1000101953 (4:147996727 C>A), RS1000102922 (4:147886279 T>C), RS1000108032 (4:147984472 T>G), RS10001150 (4:147788290 A>T)

Disease associations

OMIM: gene MIM:609746 | disease phenotypes: MIM:616487

GenCC curated gene-disease

Mondo (3): epidermolysis bullosa simplex with nail dystrophy (MONDO:0014661), intellectual disability (MONDO:0001071), pseudohypoaldosteronism (MONDO:0018638)

Orphanet (2): Pseudohypoaldosteronism (Orphanet:444916), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D011546	Pseudohypoaldosteronism	C12.050.351.968.419.815.770; C12.200.777.419.815.770; C12.950.419.815.770; C16.320.831.770

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
potassium chromate(VI)	decreases expression, affects cotreatment	2
chromium hexavalent ion	decreases expression, increases abundance	2
Aflatoxin B1	increases methylation, decreases expression	2
ethyl-p-hydroxybenzoate	increases expression	1
zinc chromate	increases abundance, decreases expression	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Venlafaxine Hydrochloride	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Calcitriol	increases expression	1
Cisplatin	increases expression	1
Doxorubicin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Phthalic Acids	decreases methylation	1
Thiram	increases expression	1
Tobacco Smoke Pollution	affects expression	1
Triclosan	increases expression	1
Vitamin E	increases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	PHASE2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00004328	PHASE2	COMPLETED	Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	PHASE1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	PHASE2/PHASE3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	PHASE1/PHASE2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability
NCT01915381	Not specified	COMPLETED	Improving Adherence Healthy Lifestyle With a Smartphone Application Based on Adults With Intellectual Disabilities
NCT01988623	Not specified	COMPLETED	Pivotal Response Treatment for Individuals With Intellectual Disabilities
NCT02099773	Not specified	COMPLETED	Support Staff-client Interactions With Augmentative and Alternative Communication
NCT02136849	Not specified	COMPLETED	Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02225041	Not specified	COMPLETED	Sedation Strategy and Cognitive Outcome After Critical Illness in Early Childhood
NCT02414438	Not specified	COMPLETED	Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
NCT02451761	Not specified	COMPLETED	Apparently Balanced Chromosomal Translocation/ Next-generation Sequencing/ Intellectual Disability
NCT02461420	Not specified	ACTIVE_NOT_RECRUITING	Mapping the Genotype, Phenotype, and Natural History of Phelan-McDermid Syndrome
NCT02461459	Not specified	ACTIVE_NOT_RECRUITING	Autism Spectrum Disorder (ASD) and Intellectual Disability (ID) Determinants in Tuberous Sclerosis Complex (TSC)
NCT02486081	Not specified	COMPLETED	Development and Application-Smart Football for Movement Evaluation and Training in the Special Education Population
NCT02504502	Not specified	COMPLETED	Enhancing Genomic Laboratory Reports to Enhance Communication and Empower Patients
NCT02513277	Not specified	COMPLETED	Diabetes Screening & Prevention for People With Learning (Intellectual) Disabilities:STOP Diabetes Study
NCT02561754	Not specified	COMPLETED	Weight Management for Adolescents With IDD
NCT02591446	Not specified	COMPLETED	Transcranial Magnetic Stimulation Studies in Autism Spectrum Disorders
NCT02714868	Not specified	COMPLETED	Evaluation of Project TEAM (Teens Making Environmental and Activity Modifications)
NCT02721394	Not specified	UNKNOWN	FCT With Young Children With ID in the UK: A Feasibility Project V.1
NCT02746614	Not specified	COMPLETED	Psychomotor Therapy Effects in Adaptive Behavior and Motor Proficiency in Intellectual Disability