ARHGAP21

Summary

ARHGAP21 (Rho GTPase activating protein 21, HGNC:23725) is a protein-coding gene on chromosome 10p12.1, encoding Rho GTPase-activating protein 21 (Q5T5U3). Functions as a GTPase-activating protein (GAP) for RHOA and CDC42.

ARHGAP21 functions preferentially as a GTPase-activating protein (GAP) for CDC42 (MIM 116952) and regulates the ARP2/3 complex (MIM 604221) and F-actin dynamics at the Golgi through control of CDC42 activity (Dubois et al., 2005 [PubMed 15793564]).

Source: NCBI Gene 57584 — RefSeq curated summary.

At a glance

• GWAS associations: 24
• Clinical variants (ClinVar): 525 total — 2 pathogenic, 4 likely-pathogenic (top 6% of genes corpus-wide)
• GTEx eGene: eQTL in 13 tissues, sQTL in 2 (q < 0.05)
• Constraint (gnomAD): pLI 1.00 (loss-of-function intolerant), LOEUF 0.26 (highly constrained)
• MANE Select transcript: NM_020824
• Notable: 525 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23725
Approved symbol	ARHGAP21
Name	Rho GTPase activating protein 21
Location	10p12.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1424, ARHGAP10
Ensembl gene	ENSG00000107863
Ensembl biotype	protein_coding
OMIM	609870
Entrez	57584

Gene structure

Transcript identifiers

Ensembl transcripts: 31 — 21 protein_coding, 6 retained_intron, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

MANE Select: ENST00000396432

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 5, TSL 3: 4, TSL 4: 2, TSL 5: 5

ENST00000396432, ENST00000376410, ENST00000416305, ENST00000418033, ENST00000418325, ENST00000446003, ENST00000463892, ENST00000472150, ENST00000476067, ENST00000476499, ENST00000477190, ENST00000482792, ENST00000483114, ENST00000486374, ENST00000493154, ENST00000612832, ENST00000636789, ENST00000638156, ENST00000680286, ENST00000903505, ENST00000958435, ENST00000958436, ENST00000958437, ENST00000958438, ENST00001038808, ENST00001112983, ENST00001112984, ENST00001112985, ENST00001112986, ENST00001112987, ENST00001142427

RefSeq mRNA: 10 — MANE Select: NM_020824 NM_001367447, NM_001367448, NM_001367449, NM_001367450, NM_001367451, NM_001367452, NM_001367453, NM_001367454, NM_001367455, NM_020824

CCDS: CCDS7144, CCDS91222

Canonical transcript exons

ENST00000396432 — 26 exons

Exon	Start	End
ENSE00000694497	24595888	24596043
ENSE00000694533	24596740	24596882
ENSE00001137219	24622733	24622762
ENSE00001137224	24629996	24630050
ENSE00003458482	24591887	24592012
ENSE00003502480	24666985	24667009
ENSE00003507880	24604312	24604348
ENSE00003510929	24594950	24595039
ENSE00003511245	24721837	24722279
ENSE00003515549	24633402	24633480
ENSE00003516980	24595717	24595795
ENSE00003527442	24591225	24591330
ENSE00003543707	24597945	24598009
ENSE00003549041	24589271	24589302
ENSE00003552406	24670218	24670397
ENSE00003580586	24607499	24607601
ENSE00003616527	24635011	24635103
ENSE00003620622	24591642	24591683
ENSE00003623308	24619473	24621369
ENSE00003637620	24601978	24602103
ENSE00003641282	24607745	24607903
ENSE00003647189	24595117	24595190
ENSE00003654098	24597447	24597583
ENSE00003672848	24600646	24600930
ENSE00003841524	24583614	24586106
ENSE00003842920	24723562	24723887

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 99.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.7952 / max 488.4674, expressed in 1803 samples.

Highest expression (Bgee): hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex, ventricular zone, ganglionic eminence.

Genetic regulation across tissues (GTEx eQTL / sQTL)

ARHGAP21 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

15 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Cells Cultured fibroblasts	eqtl	4.9e-25	-0.28	10:24916129:T:C
Muscle Skeletal	sqtl	2.2e-15	+0.51	10:24718916:T:C
Nerve Tibial	eqtl	2.4e-03	+0.18	10:24889935:G:A
Brain Hippocampus	eqtl	8.1e-03	+0.14	10:24717003:C:T
Brain Nucleus accumbens basal ganglia	eqtl	1.0e-02	-0.24	10:24694146:A:G
Brain Spinal cord cervical c-1	eqtl	1.3e-02	+0.18	10:24582359:CT:C
Brain Putamen basal ganglia	eqtl	1.5e-02	-0.19	10:24734379:T:G
Thyroid	eqtl	2.2e-02	-0.34	10:24961621:G:C
Spleen	eqtl	2.2e-02	+2.01	10:25722370:G:A
Prostate	eqtl	2.4e-02	-0.47	10:24707044:G:A
Skin Sun Exposed Lower leg	eqtl	4.0e-02	-0.22	10:24950013:T:C
Cells EBV-transformed lymphocytes	eqtl	4.0e-02	+0.40	10:24894059:G:A
Brain Hypothalamus	eqtl	4.4e-02	-0.37	10:24894016:A:G
Heart Atrial Appendage	sqtl	4.9e-02	-1.64	10:24971300:C:CACAGGTTA
Artery Tibial	eqtl	4.9e-02	+0.11	10:24828425:A:T

FANTOM5 promoters

showing 10 of 13 alternative TSS:

Promoter ID	TPM avg	Samples expressed
108702	13.4285	1733
108703	7.8364	1703
108699	1.4913	506
108697	0.9416	543
108689	0.8997	124
108701	0.8710	528
108696	0.4400	163
108698	0.3650	164
108695	0.1770	70
108690	0.1262	66

Top tissues by expression

showing 100 of 250 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right hemisphere of cerebellum	UBERON:0014890	99.30	gold quality
cerebellar hemisphere	UBERON:0002245	99.19	gold quality
cerebellar cortex	UBERON:0002129	99.11	gold quality
ventricular zone	UBERON:0003053	99.08	gold quality
ganglionic eminence	UBERON:0004023	98.96	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.93	gold quality
right frontal lobe	UBERON:0002810	98.66	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.28	gold quality
calcaneal tendon	UBERON:0003701	98.02	gold quality
cortical plate	UBERON:0005343	97.83	gold quality
spinal cord	UBERON:0002240	97.76	gold quality
adrenal tissue	UBERON:0018303	97.76	gold quality
cerebellum	UBERON:0002037	97.73	gold quality
anterior cingulate cortex	UBERON:0009835	97.56	gold quality
stromal cell of endometrium	CL:0002255	97.39	gold quality
prefrontal cortex	UBERON:0000451	97.08	gold quality
left ovary	UBERON:0002119	97.03	gold quality
amygdala	UBERON:0001876	96.99	gold quality
right ovary	UBERON:0002118	96.84	gold quality
hypothalamus	UBERON:0001898	96.83	gold quality
corpus callosum	UBERON:0002336	96.80	gold quality
putamen	UBERON:0001874	96.60	gold quality
colonic epithelium	UBERON:0000397	96.45	gold quality
nucleus accumbens	UBERON:0001882	96.12	gold quality
caudate nucleus	UBERON:0001873	95.98	gold quality
right coronary artery	UBERON:0001625	95.94	gold quality
sural nerve	UBERON:0015488	95.91	gold quality
body of uterus	UBERON:0009853	95.84	gold quality
endocervix	UBERON:0000458	95.61	gold quality
left uterine tube	UBERON:0001303	95.61	gold quality
right lung	UBERON:0002167	95.46	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.29	gold quality
tibial nerve	UBERON:0001323	94.97	gold quality
left coronary artery	UBERON:0001626	94.91	gold quality
popliteal artery	UBERON:0002250	94.65	gold quality
tibial artery	UBERON:0007610	94.65	gold quality
left adrenal gland cortex	UBERON:0035825	94.61	gold quality
left adrenal gland	UBERON:0001234	94.56	gold quality
right adrenal gland cortex	UBERON:0035827	94.52	gold quality
right atrium auricular region	UBERON:0006631	94.49	gold quality
omental fat pad	UBERON:0010414	94.47	gold quality
peritoneum	UBERON:0002358	94.41	gold quality
aorta	UBERON:0000947	94.25	gold quality
adenohypophysis	UBERON:0002196	94.18	gold quality
ascending aorta	UBERON:0001496	94.14	gold quality
neocortex	UBERON:0001950	94.14	gold quality
thoracic aorta	UBERON:0001515	94.09	gold quality
descending thoracic aorta	UBERON:0002345	94.09	gold quality
right adrenal gland	UBERON:0001233	94.00	gold quality
coronary artery	UBERON:0001621	93.99	gold quality
rectum	UBERON:0001052	93.80	gold quality
brain	UBERON:0000955	93.73	gold quality
adrenal cortex	UBERON:0001235	93.63	gold quality
body of stomach	UBERON:0001161	93.61	gold quality
upper lobe of left lung	UBERON:0008952	93.61	gold quality
frontal cortex	UBERON:0001870	93.60	gold quality
adrenal gland	UBERON:0002369	93.59	gold quality
substantia nigra	UBERON:0002038	93.57	gold quality
forebrain	UBERON:0001890	93.51	gold quality
gall bladder	UBERON:0002110	93.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	93.45	gold quality
tendon	UBERON:0000043	93.41	gold quality
apex of heart	UBERON:0002098	93.36	gold quality
medial globus pallidus	UBERON:0002477	93.27	gold quality
stomach	UBERON:0000945	93.22	gold quality
mucosa of stomach	UBERON:0001199	93.19	gold quality
smooth muscle tissue	UBERON:0001135	93.17	gold quality
right uterine tube	UBERON:0001302	92.94	gold quality
cerebral cortex	UBERON:0000956	92.88	gold quality
ectocervix	UBERON:0012249	92.87	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.82	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.71	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.67	gold quality
lower esophagus	UBERON:0013473	92.67	gold quality
left lobe of thyroid gland	UBERON:0001120	92.58	gold quality
gastrocnemius	UBERON:0001388	92.50	gold quality
transverse colon	UBERON:0001157	92.48	gold quality
midbrain	UBERON:0001891	92.46	gold quality
pituitary gland	UBERON:0000007	92.37	gold quality
ovary	UBERON:0000992	92.37	gold quality
muscle of leg	UBERON:0001383	92.37	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.23	gold quality
cardiac atrium	UBERON:0002081	92.19	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.18	gold quality
minor salivary gland	UBERON:0001830	92.13	gold quality
right lobe of thyroid gland	UBERON:0001119	92.09	gold quality
upper lobe of lung	UBERON:0008948	92.03	gold quality
globus pallidus	UBERON:0001875	91.95	gold quality
Ammon’s horn	UBERON:0001954	91.85	gold quality
inferior vagus X ganglion	UBERON:0005363	91.85	gold quality
subcutaneous adipose tissue	UBERON:0002190	91.73	gold quality
monocyte	CL:0000576	91.57	gold quality
uterine cervix	UBERON:0000002	91.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.29	gold quality
thyroid gland	UBERON:0002046	91.28	gold quality
body of pancreas	UBERON:0001150	91.14	gold quality
leukocyte	CL:0000738	90.96	gold quality
heart left ventricle	UBERON:0002084	90.54	gold quality
small intestine Peyer’s patch	UBERON:0003454	90.46	gold quality
islet of Langerhans	UBERON:0000006	90.34	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-25	yes	53.15
E-ANND-3	yes	11.41

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 155 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Hippocampus	tissue	137.6	medium
Corpus callosum	tissue	133.0
Nucleus accumbens	tissue	120.2
Locus coeruleus	tissue	111.5
Postcentral gyrus	tissue	110.8
Cerebellum	tissue	110.0
Hippocampal formation	tissue	100.9
Spinal cord	tissue	83.4
Cerebellum	tissue	82.7	medium
Midbrain	tissue	79.6
Cerebral cortex	tissue	79.3	medium
Insular cortex	tissue	79.3
Medulla oblongata	tissue	78.8
Somatosensory cortex	tissue	77.4
Prefrontal cortex	tissue	76.0
Substantia nigra	tissue	75.7
Occipital cortex	tissue	74.4
Motor cortex	tissue	72.6
Entorhinal cortex	tissue	71.0
Temporal cortex	tissue	70.7
Retrosplenial cortex	tissue	70.1
Retrosplenial and cingulate cortex	tissue	69.5
Amygdala	tissue	69.0
Thalamus	tissue	68.8
Superior colliculi	tissue	68.8
Ventral forebrain	tissue	68.5
Putamen	tissue	66.9
Olfactory bulb	tissue	63.8
Periaqueductal gray	tissue	63.7
Pons	tissue	62.3
Hypothalamus	tissue	58.0
Septum	tissue	54.9
Basal ganglia	tissue	53.5	medium
Frontal cortex	tissue	46.4
Choroid plexus	tissue	43.9
Retina	tissue	37.0
Caudate putamen	tissue	36.2
Esophagus	tissue	32.3
Tongue	tissue	30.9
Vagina	tissue	29.4
Heart muscle	tissue	27.2
Ovary	tissue	26.5	low
Adipose tissue	tissue	26.1	not detected
Stomach 1	tissue	25.5	medium
Skeletal muscle	tissue	24.8
Salivary gland	tissue	23.1	medium
Caudate putamen	tissue	22.8
Tongue	tissue	21.5
Choroid plexus	tissue	21.0
Ovary	tissue	20.8
Lung	tissue	20.4	not detected
Heart muscle	tissue	19.7	medium
Urinary bladder	tissue	19.4
Seminal vesicle	tissue	18.8
Cervix	tissue	18.5	low
Endometrium 1	tissue	18.5	low
Adipose tissue	tissue	18.4
Prostate	tissue	18.3
Rectum	tissue	17.4	low
Spinal cord	tissue	17.0

Brain sub-regions (HPA Brain Atlas): detected in 381; highest nTPM — Parieto-temporal junction (white matter) (260.5), Temporal white matter (240.1), Corpus callosum, genu (white matter) (230.2), Cerebellar white matter (230.1), Corpus callosum, splenium (white matter) (219.7).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting ARHGAP21 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 158 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-552-5P	99.93	68.56	1583
HSA-MIR-206	99.93	72.50	1893

Functional genomics

gnomAD constraint: pLI 1, LOEUF 0.261, missense Z 4.19 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD)

ENST00000396432 splits into 5 regions with different missense tolerance; 0 are missense-constrained. Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. gnomAD

Region (GRCh38)	Missense obs / exp	o/e	Constrained
10:24,584,415–24,584,842	165 / 176.6	0.93	no
10:24,584,843–24,585,312	117 / 193.2	0.61	no
10:24,585,313–24,591,666	333 / 383.9	0.87	no
10:24,591,667–24,596,780	117 / 238.1	0.49	no
10:24,596,781–24,721,899	1090 / 1378.9	0.79	no

Literature-anchored findings (GeneRIF, showing 16)

• ARHGAP10 gene is highly expressed in muscle and brain, which are highly differentiated tissues. It supports the hypothesis that ARHGAP10 is important for cell differentiation (PMID:12056806)
• The ARHGAP10 protein is a novel Rho GTPase-activating protein (Rho-GAP) that is recruited to Golgi membranes through binding to GTP-ARF1. (PMID:15793564)
• The crystal structure of the activated GTP-bound form of ARF1 in a complex with the Arf-binding domain (ArfBD) of ARHGAP21 at 2.1 A resolution, is presented. (PMID:17347647)
• Data demonstrate that the RhoGTPase activating protein 21 (ARHGAP21) is expressed in the nuclear and perinuclear regions of several cell lines, and interacts with the C-terminal region of focal adhesion kinase. (PMID:19268501)
• Disruption of the beta-arrestin 1/ARHGAP21 complex results in a more active ARHGAP21, leading to less efficient signaling via the angiotensin II type 1A receptor and, thereby, attenuation of stimulated stress fiber formation. (PMID:21173159)
• silencing Cdc42 reduced influenza A virus replication, whereas silencing ARHGAP21 increased the virus replication. (PMID:22318733)
• Co-immunoprecipitations and in vitro SUMOylation confirmed ARHGAP21 specific modification by SUMO2/3 and mapped the SUMOylation site to ARHGAP21 lysine K1443. (PMID:22922005)
• ARHGAP21 is a Rho-GAP involved in cell-cell junction remodeling that affects migration and EMT through alpha-tubulin interaction and acetylation (PMID:23235160)
• Gly1121Ser variant in ARHGAP21 gene found to be shared by all MP individuals in arger branch of family with nearly complete penetrance. ARHGAP21 protein strengthens cell-cell adhesions; may be regulated by BMPs influencing mandibular growth. (PMID:25691070)
• The results show that PTEN controls multicellular assembly through a membrane-associated regulatory protein complex composed of beta-Arrestin1, ARHGAP21 and Cdc42. (PMID:28749339)
• Reduced Arhgap21 is associated with Hematopoietic defects. (PMID:29212046)
• In this paper, we aimed to review the available literature regarding ARHGAP21 to highlight its importance and the mechanisms of action that have been found so far for this still unknown protein involved with cell adhesion, migration, Golgi regulation, cell trafficking, and even insulin secretion. (PMID:29856495)
• Deficiency of ARHGAP21 alters megakaryocytic cell lineage responses and enhances platelet hemostatic function. (PMID:33727037)
• ARHGAP21 Is Involved in the Carcinogenic Mechanism of Cholangiocarcinoma: A Study Based on Bioinformatic Analyses and Experimental Validation. (PMID:36676763)
• Silencing of ARHGAP21, a Rho GTPase activating protein (RhoGAP), reduces the growth of prostate cancer xenografts in NOD/SCID mice. (PMID:36764390)
• [ARHGAP21 inhibits epithelial-mesenchymal transition by inactivating the WNT signaling pathway in non-small cell lung cancer]. (PMID:37712268)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgap21b	ENSDARG00000075673
danio_rerio	arhgap21a	ENSDARG00000104295
mus_musculus	Arhgap21	ENSMUSG00000036591
rattus_norvegicus	Arhgap21	ENSRNOG00000008659

Paralogs (1): ARHGAP23 (ENSG00000275832)

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1918685) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 19 distinct phenotype terms.

Mouse phenotype (MP)	Records
increased leukocyte cell number	1
increased neutrophil cell number	1
abnormal vocalization	1
decreased hemoglobin content	1
decreased erythrocyte cell number	1
thrombocytopenia	1
abnormal body wall morphology	1
decreased lean body mass	1
abnormal auditory brainstem response	1
decreased hematopoietic stem cell number	1
increased susceptibility to injury	1
increased megakaryocyte cell number	1
decreased erythroid progenitor cell number	1
increased total body fat amount	1
decreased bone mineral content	1
abnormal hematopoietic stem cell physiology	1
embryonic lethality between somite formation and embryo turning, complete penetrance	1
preweaning lethality, incomplete penetrance	1
increased megakaryocyte progenitor cell number	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo pygmaeus	Q7YQL5	100.0%	Diamond
Pan troglodytes	Q7YQL6	100.0%	Diamond
Bos taurus	A5PKA5	98.9%	Diamond
Canis lupus familiaris	P83509	98.7%	Diamond
Pongo abelii	Q5RCF7	98.3%	Diamond
Macaca fascicularis	Q9BE31	98.3%	Diamond
Xenopus tropicalis	A4II46	97.6%	Diamond
Xenopus laevis	Q8AVG0	97.6%	Diamond
Caenorhabditis briggsae	A8WRJ2	89.0%	Diamond
Caenorhabditis elegans	Q20498	89.0%	Diamond
Oryctolagus cuniculus	Q28619	86.4%	Diamond
Gallus gallus	Q5ZMW5	84.5%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
KIAA1217	protein-coding	56243
PRTFDC1	protein-coding	56952
MIR603	ncRNA	693188
ENKUR	protein-coding	219670
THNSL1	protein-coding	79896
GPR158-AS1	ncRNA	100128811
LINC01516	ncRNA	101929025
OTUD1	protein-coding	220213

Protein

Protein identifiers

Rho GTPase-activating protein 21 — Q5T5U3 (reviewed: Q5T5U3)

Alternative names: Rho GTPase-activating protein 10, Rho-type GTPase-activating protein 21

All UniProt accessions (10): A0A087WW76, A0A1B0GTZ9, A0A1B0GV73, A0A7P0TAS2, A0A805TBS0, E7ESW5, Q5T5U3, H0Y468, H0Y5T2, Q5JSD8

UniProt curated annotations — full annotation on UniProt →

Function. Functions as a GTPase-activating protein (GAP) for RHOA and CDC42. Downstream partner of ARF1 which may control Golgi apparatus structure and function. Also required for CTNNA1 recruitment to adherens junctions.

Subunit / interactions. Interacts with GTP-bound ARF1 and ARF6. Interacts with CTNNA1.

Subcellular location. Golgi apparatus membrane. Cell junction. Cytoplasmic vesicle membrane. Cytoplasm. Cytoskeleton.

Tissue specificity. Widely expressed with higher expression in brain, heart, skeletal muscle and placenta.

Post-translational modifications. Sumoylated with SUMO2 and SUMO3 in proliferating lymphocytes.

Induction. Up-regulated upon cell differentiation.

Miscellaneous. Depletion of ARHGAP21 induces cell spreading and accumulation of F-actin stress fibers. Required for In1A-dependent entry of Listeria monocytogenes into cells.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5T5U3-1	1	yes
Q5T5U3-3	3

RefSeq proteins (10): NP_001354376, NP_001354377, NP_001354378, NP_001354379, NP_001354380, NP_001354381, NP_001354382, NP_001354383, NP_001354384, NP_065875* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000198	RhoGAP_dom	Domain
IPR001478	PDZ	Domain
IPR001849	PH_domain	Domain
IPR008936	Rho_GTPase_activation_prot	Homologous_superfamily
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR036034	PDZ_sf	Homologous_superfamily
IPR041489	PDZ_6	Domain

Pfam: PF00169, PF00620, PF17820

UniProt features (104 total): modified residue 29, compositionally biased region 19, strand 15, region of interest 13, helix 6, sequence variant 6, sequence conflict 4, domain 3, splice variant 3, mutagenesis site 3, chain 1, site 1, cross-link 1

Structure

Experimental structures (PDB)

3 structures by resolution:

PDB	Title	Method	Resolution (Å)
2J59	Crystal structure of the ARF1:ARHGAP21-ArfBD complex	X-RAY DIFFRACTION	2.1
2DHJ	Solution structure of the PH domain of Rho GTPase activating protein 21 from human	SOLUTION NMR
2YUY	Solution Structure of PDZ domain of Rho GTPase Activating Protein 21	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T5U3-F1	45.03	0.12

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; cytosol; nuclear membrane

Antibody reliability (HPA): IF approved

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)

Position	Role
1184	arginine finger; crucial for gtp hydrolysis by stabilizing the transition state

Post-translational modifications (30)

Type	Positions
Phosphoserine	36, 57, 459, 612, 616, 625, 717, 857, 862, 881, 924, 926, 954, 1099, 1115, 1418, 1432, 1433, 1504, 1527, 1669, 1742, 1917
Omega-n-methylarginine	554, 575
Phosphothreonine	747, 1516, 1682
Phosphotyrosine	882
Glycyl lysine isopeptide (lys-gly) (interchain with g-cter in sumo)	1444

Mutagenesis-validated functional residues (3)

Position	Phenotype
1000	altered interaction with arf1 and loss of association to membranes.
1054	altered interaction with arf1 and loss of association to membranes.
1184	loss of gtpase activity and loss of function.

Function

Pathways and Gene Ontology

Reactome pathways

13 curated (TAS) of 17; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

17 pathways:

ID	Pathway	Evidence
R-HSA-9013148	CDC42 GTPase cycle	curated
R-HSA-9013149	RAC1 GTPase cycle	curated
R-HSA-9013404	RAC2 GTPase cycle	curated
R-HSA-9013423	RAC3 GTPase cycle	curated
R-HSA-8980692	RHOA GTPase cycle	curated
R-HSA-9013026	RHOB GTPase cycle	curated
R-HSA-9013106	RHOC GTPase cycle	curated
R-HSA-9013405	RHOD GTPase cycle	curated
R-HSA-9035034	RHOF GTPase cycle	curated
R-HSA-9013408	RHOG GTPase cycle	curated
R-HSA-9013409	RHOJ GTPase cycle	curated
R-HSA-9013406	RHOQ GTPase cycle	curated
R-HSA-9696264	RND3 GTPase cycle	curated
R-HSA-9012999	RHO GTPase cycle	—
R-HSA-162582	Signal Transduction	—
R-HSA-194315	Signaling by Rho GTPases	—
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3	—

MSigDB gene sets: 374 (showing top): GCM_MAP4K4, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, BOYLAN_MULTIPLE_MYELOMA_D_DN, GOLDRATH_ANTIGEN_RESPONSE, BOYLAN_MULTIPLE_MYELOMA_D_CLUSTER_DN, GOBP_MAINTENANCE_OF_LOCATION, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, WTGAAAT_UNKNOWN, TGTGTGA_MIR377, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, PPAR_DR1_Q2

GO Biological Process (7): Golgi organization (GO:0007030), signal transduction (GO:0007165), regulation of small GTPase mediated signal transduction (GO:0051056), Golgi localization (GO:0051645), establishment of Golgi localization (GO:0051683), maintenance of Golgi location (GO:0051684), organelle transport along microtubule (GO:0072384)

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

GO Cellular Component (13): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), actin cytoskeleton (GO:0015629), cell junction (GO:0030054), cytoplasmic vesicle membrane (GO:0030659), anchoring junction (GO:0070161), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), endomembrane system (GO:0012505), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

Reactome top-level categories

4 top-level categories:

Category	Pathways
RHO GTPase cycle	13
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Signal Transduction	1

GO top-level categories

36 GO namespaces:

Category	Terms
cellular anatomical structure	5
cytoplasm	3
Golgi localization	2
establishment of organelle localization	2
organelle organization	1
endomembrane system organization	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
small GTPase-mediated signal transduction	1
regulation of intracellular signal transduction	1
organelle localization	1
establishment of localization in cell	1
maintenance of organelle location	1
transport along microtubule	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
binding	1
Golgi apparatus	1
bounding membrane of organelle	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1
cytoskeleton	1
vesicle membrane	1
cytoplasmic vesicle	1
cell junction	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
vacuole	1
plasma membrane	1
intracellular vesicle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 7 of 22 annotations. The rest are phylogenetic / computational / electronic (IEA).

7 experimentally-supported GO terms:

GO term	NS	Evidence
Golgi organization	BP	mutant phenotype
establishment of Golgi localization	BP	direct assay
maintenance of Golgi location	BP	mutant phenotype
organelle transport along microtubule	BP	mutant phenotype
Golgi apparatus	CC	direct assay
actin cytoskeleton	CC	direct assay
cell junction	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 994 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP21	RASA1	P20936	652
ARHGAP21	ARF1	P10947	633
ARHGAP21	CDC42	P21181	611
ARHGAP21	PLEK2	Q9NYT0	569
ARHGAP21	RHOA	P06749	543
ARHGAP21	CTNNA1	P35221	525
ARHGAP21	PLEK	P08567	519
ARHGAP21	ARF6	P26438	497
ARHGAP21	CCDC85A	Q96PX6	476
ARHGAP21	WDR6	Q9NNW5	446
ARHGAP21	KIAA1217	Q5T5P2	441
ARHGAP21	CCDC85C	A6NKD9	430
ARHGAP21	PRICKLE1	Q96MT3	393
ARHGAP21	ADAMTS1	Q9UHI8	385
ARHGAP21	CDH1	P12830	382

IntAct

Human interaction partners of ARHGAP21 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

showing 30 of 354 partners by confidence:

Partner	Interaction type	MIscore	Records
YWHAZ	physical association	0.760	1
APC	direct interaction	0.590	1
AXIN1	direct interaction	0.590	1
CTNNB1	direct interaction	0.590	1
MYO18A	direct interaction	0.590	1
SAPCD1	direct interaction	0.590	1
CFTR	direct interaction	0.570	1
SFN	physical association	0.540	1
EEF1D	physical association	0.520	2
E6	direct interaction	0.440	10
E	direct interaction	0.440	2
NRXN3	direct interaction	0.440	2
PTEN	direct interaction	0.440	2
RPS6KA1	direct interaction	0.440	2
ABCA1	direct interaction	0.440	1
ABCA2	direct interaction	0.440	1
ABCC4	direct interaction	0.440	1
ABCC6	direct interaction	0.440	1
ABRAXAS2	direct interaction	0.440	1
ACOT6	direct interaction	0.440	1
ACTN2	direct interaction	0.440	1
ACVR2A	direct interaction	0.440	1
ADAM17	direct interaction	0.440	1
ADAM22	direct interaction	0.440	1
ADGRA1	direct interaction	0.440	1
ADGRA2	direct interaction	0.440	1
ADGRA3	direct interaction	0.440	1
ADGRE5	direct interaction	0.440	1
ADGRG1	direct interaction	0.440	1
ADRA1D	direct interaction	0.440	1

BioGRID (246 interactions; top human partners by supporting records): YWHAB (Affinity Capture-MS; 4 records), YWHAG (Affinity Capture-MS; 4 records), YWHAH (Affinity Capture-MS; 4 records), YWHAQ (Affinity Capture-MS; 4 records), YWHAZ (Affinity Capture-MS; 4 records), RHOA (FRET; 3 records), SAPCD1 (Affinity Capture-MS; 3 records), YWHAE (Affinity Capture-MS; 3 records), ANLN (Affinity Capture-MS; 2 records), BAG2 (Affinity Capture-MS; 2 records), CDH1 (Proximity Label-MS; 2 records), CEP135 (Proximity Label-MS; 2 records), CTNNA1 (Affinity Capture-MS; 2 records), CTNNB1 (Affinity Capture-MS; 2 records), KRAS (Proximity Label-MS; 2 records)

SIGNOR signaling

1 signaling interactions:

A	Effect	B	Mechanism
ARHGAP21	“down-regulates activity”	RHOA	“gtpase-activating protein”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 354 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
Long-term potentiation	7	13.3×	1e-04
Tight junction interactions	9	13.3×	1e-05
Unblocking of NMDA receptors, glutamate binding and activation	6	13.1×	5e-04
Ephrin signaling	5	11.4×	4e-03
SRC activates STAT3 in a quantitative manner, through Cadherin-11 (CDH11), RAC1 and gp130 (IL6ST)	5	9.9×	6e-03
EPHB-mediated forward signaling	8	8.5×	4e-04
Class B/2 (Secretin family receptors)	10	7.6×	1e-04
EPH-ephrin mediated repulsion of cells	7	6.2×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
glutamate receptor signaling pathway	7	19.7×	1e-05
calcium-independent cell-cell adhesion	8	19.3×	4e-06
prepulse inhibition	5	16.9×	1e-03
non-canonical Wnt signaling pathway	7	12.2×	3e-04
positive regulation of synaptic transmission, glutamatergic	6	11.2×	1e-03
regulation of monoatomic ion transmembrane transport	5	11.0×	5e-03
positive regulation of Rho protein signal transduction	6	10.5×	2e-03
maintenance of blood-brain barrier	7	10.1×	7e-04

Disease & clinical

Genetic variants

Variant evidence for ARHGAP21: 525 ClinVar records (6 pathogenic / likely pathogenic); 24 GWAS associations. Per-variant detail is on Sugi Variant.

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	4
Uncertain significance	415
Likely benign	34
Benign	13

Top pathogenic / likely-pathogenic (6)

Showing all 6 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
402147	NM_020824.4(ARHGAP21):c.3491T>G (p.Ile1164Arg)	Likely pathogenic	criteria provided, single submitter	1
4682608	GRCh37/hg19 4q31.23(chr4:148644749-149301795)x1	Pathogenic	criteria provided, single submitter	1
997080	GRCh37/hg19 4q31.23(chr4:148911418-149103259)	Likely pathogenic	criteria provided, single submitter	1
687334	GRCh37/hg19 4q31.21-31.23(chr4:146118793-150492144)x1	Pathogenic	no assertion criteria provided	1
152886	GRCh38/hg38 4q31.23(chr4:147920951-148356485)x1	Likely pathogenic	no assertion criteria provided	1
562975	GRCh37/hg19 4q31.23(chr4:148916436-149103774)x1	Likely pathogenic	no assertion criteria provided	1

Per-variant reference — Sugi Variant

Explore ARHGAP21’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 32 predictions of 5,899):

Position(s)	Effect	Δscore	Sites
10:24589269–24589270	donor_loss	1.0000	5
10:24592014	acceptor_loss	1.0000	3
10:24594948–24594949	donor_loss	1.0000	3
10:24595040–24595041	acceptor_loss	1.0000	5
10:24595843	acceptor_gain	1.0000
10:24595886–24595887	donor_loss	1.0000	4
10:24596044–24596045	acceptor_loss	1.0000	6
10:24596884–24596886	acceptor_gain	1.0000	2
10:24596890	acceptor_gain	1.0000
10:24596894–24596895	acceptor_gain	1.0000	2

AlphaMissense

3,633 missense substitutions predicted likely pathogenic (of 12,815 scored), across 833 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
M1293	9	0.994	1.000
M1321	9	0.986	1.000
M1317	9	0.985	0.999
M1028	9	0.955	0.995
M1314	9	0.947	0.996
M156	9	0.926	0.995
H1280	8	0.997	1.000
N1297	8	0.997	1.000
D100	8	0.996	0.999
D1215	8	0.996	0.999
F1235	8	0.996	1.000
F1302	8	0.996	0.999
H66	8	0.995	0.998
N1291	8	0.995	1.000
F62	8	0.994	1.000
F67	8	0.994	1.000
F103	8	0.994	1.000
D122	8	0.993	0.999
D997	8	0.992	0.997
H1320	8	0.992	0.997

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

6 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	6.42e-11
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	3.65e-07
Lung Adenocarcinoma (TCGA)	unfavorable	0.000214
Pancreatic Adenocarcinoma (TCGA)	unfavorable	0.000268
Glioblastoma Multiforme (validation)	favorable	0.000273
Lung Adenocarcinoma (validation)	unfavorable	0.000808

Disease associations

OMIM: gene MIM:609870 | disease phenotypes:

GWAS associations

24 associations:

Study	Trait	p-value
GCST005192_105	Lobe attachment (rater-scored or self-reported)	9e-68
GCST90013406_225	Liver enzyme levels (alkaline phosphatase)	2e-43
GCST90011900_63	Serum alkaline phosphatase levels	1e-28
GCST003818_48	Resting heart rate	2e-14
GCST006061_45	Atrial fibrillation	6e-14
GCST90000025_622	Appendicular lean mass	8e-14
GCST90002383_297	Hematocrit	5e-13
GCST006061_43	Atrial fibrillation	7e-13
GCST90002384_438	Hemoglobin	8e-13
GCST009462_46	Optic disc size	9e-13
GCST006414_119	Atrial fibrillation	1e-11
GCST010083_93	Hemoglobin levels	1e-11
GCST90002387_110	Immature fraction of reticulocytes	2e-11
GCST008362_67	Birth weight	4e-9
GCST001537_3	Immune reponse to smallpox (secreted IL-12p40)	1e-8
GCST009615_10	Triglyceride levels x loop diuretics use interaction	1e-8
GCST005193_1	Lobe attachment (rater scored)	2e-8
GCST009411_16	Optic disc area	2e-8
GCST003219_30	Advanced age-related macular degeneration	4e-8
GCST000452_3	QT interval	7e-7
GCST009615_9	Triglyceride levels x loop diuretics use interaction	7e-7
GCST008508_5	Stress sensitivity (neuroticism score x major depressive disorder status interaction)	4e-6
GCST002875_51	Diisocyanate-induced asthma	5e-6
GCST010566_5	Benign childhood epilepsy with centro-temporal spikes	9e-6

EFO canonical traits (from GWAS)

13 canonical traits:

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0004645	response to vaccine
EFO:0004873	cytokine measurement
EFO:0006995	response to diisocyanate
EFO:1001492	atrophic macular degeneration
EFO:0007667	lobe attachment
EFO:0004344	birth weight
EFO:0007660	neuroticism measurement
EFO:0004530	triglyceride measurement
EFO:0004509	hemoglobin measurement
EFO:0004980	appendicular lean mass
EFO:0004348	hematocrit
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, affects expression	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases expression, affects binding, increases activity	1
arsenite	affects binding, decreases reaction	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	affects phosphorylation	1
methacrylaldehyde	affects cotreatment, increases oxidation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	increases reaction, affects binding	1
chloropicrin	increases expression	1
monomethylarsonous acid	increases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Acrolein	affects cotreatment, increases oxidation	1
Arsenic	affects methylation	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	increases mutagenesis	1
Cacodylic Acid	increases expression	1
Caffeine	affects phosphorylation	1
Formaldehyde	decreases expression	1
Mustard Gas	increases phosphorylation	1
Ozone	affects cotreatment, increases oxidation	1
Quercetin	decreases phosphorylation	1
Thiram	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 209 trials:

NCT	Phase	Status	Title
NCT05657860	Phase 4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	Phase 4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	Phase 4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	Phase 4	RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
NCT02270736	Phase 3	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	Phase 2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	Phase 2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	Phase 2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
NCT04821856	Phase 2	COMPLETED	Evaluation of the Effectiveness of Cannabidiol in Treating Severe Behavioural Problems in Children and Adolescents With Intellectual Disability
NCT00004328	Phase 2	COMPLETED	Phase II Study of the Pathophysiology and Treatment With Enalapril and Polystyrene Sulfonate for Pseudohypoaldosteronism, Type I
NCT05273320	Phase 1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	Phase 1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	Phase 1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
NCT06586827	Phase 1	COMPLETED	Impact of Competency-Based Training and Technical Assistance Employment Outcomes of Individuals With ID/DD
NCT07531940	Phase 1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT03479476	Phase 2/3	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome
NCT02616796	Phase 1/2	COMPLETED	Effects of Social Gaze Training on Brain and Behavior in Fragile X Syndrome
NCT06860672	Early Phase 1	TERMINATED	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
NCT02836405	Not specified	COMPLETED	TMS for the Investigation of Brain Plasticity in Autism Spectrum Disorders
NCT02862808	Not specified	COMPLETED	Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
NCT02881333	Not specified	UNKNOWN	Various Type of Genetic Events in Patients With Intellectual Disability
NCT02889068	Not specified	COMPLETED	Targeted Next Generation Sequencing and Intellectual Disability
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