ARHGAP22

Summary

ARHGAP22 (Rho GTPase activating protein 22, HGNC:30320) is a protein-coding gene on chromosome 10q11.22-q11.23, encoding Rho GTPase-activating protein 22 (Q7Z5H3). Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis.

This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 58504 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 184 total — 1 likely-pathogenic
• MANE Select transcript: NM_021226

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30320
Approved symbol	ARHGAP22
Name	Rho GTPase activating protein 22
Location	10q11.22-q11.23
Locus type	gene with protein product
Status	Approved
Aliases	RhoGAP2
Ensembl gene	ENSG00000128805
Ensembl biotype	protein_coding
OMIM	610585
Entrez	58504

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 9 protein_coding, 6 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000249601, ENST00000374170, ENST00000374172, ENST00000417247, ENST00000417912, ENST00000435790, ENST00000460425, ENST00000464445, ENST00000471013, ENST00000477708, ENST00000489984, ENST00000491108, ENST00000493012, ENST00000511570, ENST00000515523, ENST00000868871, ENST00000968938

RefSeq mRNA: 6 — MANE Select: NM_021226 NM_001256024, NM_001256025, NM_001256026, NM_001347735, NM_001347738, NM_021226

CCDS: CCDS58079, CCDS58080, CCDS58081, CCDS7227

Canonical transcript exons

ENST00000249601 — 10 exons

Exon	Start	End
ENSE00001370172	48479636	48479764
ENSE00001427293	48604763	48605073
ENSE00001462691	48446036	48446619
ENSE00003539053	48582953	48583152
ENSE00003540735	48555463	48555550
ENSE00003545462	48454088	48454161
ENSE00003566003	48455002	48455134
ENSE00003631313	48459684	48459891
ENSE00003665396	48450261	48451140
ENSE00003688910	48453304	48453425

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 96.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.1715 / max 358.3401, expressed in 1315 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
109308	10.0998	1068
109305	1.1730	249
109315	0.6929	450
109303	0.4596	198
109306	0.4238	161
109302	0.3829	88
109307	0.2305	131
109313	0.2241	67
109301	0.1840	62
109314	0.1836	89

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
C1 segment of cervical spinal cord	UBERON:0006469	96.56	gold quality
spinal cord	UBERON:0002240	93.07	gold quality
inferior olivary complex	UBERON:0002127	88.20	silver quality
stromal cell of endometrium	CL:0002255	86.55	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	85.60	silver quality
substantia nigra	UBERON:0002038	84.91	gold quality
amygdala	UBERON:0001876	84.26	gold quality
corpus callosum	UBERON:0002336	84.16	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.02	gold quality
right coronary artery	UBERON:0001625	83.68	gold quality
cerebellar hemisphere	UBERON:0002245	83.38	gold quality
cerebellar cortex	UBERON:0002129	83.37	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.34	gold quality
tendon of biceps brachii	UBERON:0008188	83.23	gold quality
midbrain	UBERON:0001891	82.91	gold quality
calcaneal tendon	UBERON:0003701	82.78	gold quality
cingulate cortex	UBERON:0003027	82.69	gold quality
anterior cingulate cortex	UBERON:0009835	82.69	gold quality
ascending aorta	UBERON:0001496	82.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.61	gold quality
thoracic aorta	UBERON:0001515	82.38	gold quality
right frontal lobe	UBERON:0002810	82.30	gold quality
Ammon’s horn	UBERON:0001954	82.04	gold quality
tendon	UBERON:0000043	81.97	gold quality
hypothalamus	UBERON:0001898	81.61	gold quality
cerebellum	UBERON:0002037	81.45	gold quality
prefrontal cortex	UBERON:0000451	81.07	gold quality
sperm	CL:0000019	80.90	silver quality
Brodmann (1909) area 9	UBERON:0013540	80.79	gold quality
right lobe of thyroid gland	UBERON:0001119	80.54	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	27.68
E-ANND-3	yes	4.38
E-GEOD-100618	no	85.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting ARHGAP22, 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-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6742-3P	97.95	64.50	1490
HSA-MIR-4257	97.86	68.05	1190
HSA-MIR-1224-3P	97.24	65.92	851
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-7108-5P	96.42	66.17	598

Literature-anchored findings (GeneRIF, showing 8)

• We identified a genetic association for susceptibility to retinopathy in 5 novel chromosomal regions and PLXDC2 and ARHGAP22, the latter 2 of which are genes implicated in endothelial cell angiogenesis and increased capillary permeability. (PMID:21310492)
• The interaction of the IL1RAPL1 family of proteins with PTPdelta and RhoGAP2 reveals a pathophysiological mechanism of cognitive impairment associated with a novel type of trans-synaptic signaling. (PMID:21926414)
• Identification of RhoGAP22 as an Akt-dependent regulator of cell motility in response to insulin (PMID:21969604)
• a weak complex between RhoGAP protein ARHGAP22 and signal regulatory protein 14-3-3 has 1:2 stoichiometry and a single peptide binding mode (PMID:22952583)
• There is a significant association between single nucleotide polymorphism in the ARHGAP22 gene and diabetic retinopathy risk in a Han Chinese population (PMID:28544509)
• DNA hypermethylation is associated with invasive phenotype of malignant melanoma. (PMID:31602702)
• rs10491034 of gene ARHGAP22 is associated with diabetic retinopathy incidence and severity among Chinese Hui population. (PMID:31976761)
• Endosomal Localization of RacGAP Protein ARHGAP22 Regulates its GAP Activity in Human Melanoma Cells. (PMID:36456117)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	arhgap22a	ENSDARG00000021255
danio_rerio	arhgap22b	ENSDARG00000076434
mus_musculus	Arhgap22	ENSMUSG00000063506
rattus_norvegicus	Arhgap22	ENSRNOG00000024728

Paralogs (2): ARHGAP24 (ENSG00000138639), ARHGAP25 (ENSG00000163219)

Protein

Protein identifiers

Rho GTPase-activating protein 22 — Q7Z5H3 (reviewed: Q7Z5H3)

Alternative names: Rho-type GTPase-activating protein 22

All UniProt accessions (6): Q7Z5H3, A0A2X0SFC0, A6NHM7, A6NJ38, D6R9V6, D6RBJ8

UniProt curated annotations — full annotation on UniProt →

Function. Rho GTPase-activating protein involved in the signal transduction pathway that regulates endothelial cell capillary tube formation during angiogenesis. Acts as a GTPase activator for the RAC1 by converting it to an inactive GDP-bound state. Inhibits RAC1-dependent lamellipodia formation. May also play a role in transcription regulation via its interaction with VEZF1, by regulating activity of the endothelin-1 (EDN1) promoter.

Subunit / interactions. Interacts with VEZF1.

Subcellular location. Cytoplasm. Nucleus.

Isoforms (5)

UniProt ID	Names	Canonical?
Q7Z5H3-1	1	yes
Q7Z5H3-2	2
Q7Z5H3-3	3
Q7Z5H3-4	4
Q7Z5H3-5	5

RefSeq proteins (6): NP_001242953, NP_001242954, NP_001242955, NP_001334664, NP_001334667, NP_067049* (*=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
IPR051025	RhoGAP	Family

Pfam: PF00169, PF00620

UniProt features (23 total): compositionally biased region 5, region of interest 5, splice variant 4, domain 2, modified residue 2, sequence variant 2, chain 1, site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z5H3-F1	70.00	0.44

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

Post-translational modifications (2): 359, 395

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle

MSigDB gene sets: 166 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, WANG_CLIM2_TARGETS_UP, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_DN, TAL1ALPHAE47_01, GOBP_NEGATIVE_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_ERYTHROCYTE_DN, GOBP_CELL_JUNCTION_ORGANIZATION, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, RUTELLA_RESPONSE_TO_HGF_VS_CSF2RB_AND_IL4_DN, GOBP_BLOOD_VESSEL_MORPHOGENESIS, ONDER_CDH1_TARGETS_2_UP, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_DN

GO Biological Process (6): angiogenesis (GO:0001525), signal transduction (GO:0007165), cell differentiation (GO:0030154), regulation of small GTPase mediated signal transduction (GO:0051056), negative regulation of small GTPase mediated signal transduction (GO:0051058), regulation of postsynapse organization (GO:0099175)

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

GO Cellular Component (5): nucleus (GO:0005634), cytosol (GO:0005829), focal adhesion (GO:0005925), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	3

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
small GTPase-mediated signal transduction	2
cellular anatomical structure	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
cellular developmental process	1
regulation of intracellular signal transduction	1
regulation of small GTPase mediated signal transduction	1
negative regulation of intracellular signal transduction	1
regulation of synapse organization	1
postsynapse organization	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
cell-substrate junction	1
synapse	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

692 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARHGAP22	SMIM24	O75264	623
ARHGAP22	PLEK	P08567	604
ARHGAP22	FLNA	P21333	591
ARHGAP22	NYNRIN	Q9P2P1	570
ARHGAP22	ACTN1	P12814	553
ARHGAP22	CPXM1	Q96SM3	544
ARHGAP22	DOCK3	Q8IZD9	542
ARHGAP22	YWHAB	P31946	492
ARHGAP22	BEX3	Q00994	479
ARHGAP22	PECAM1	P16284	470
ARHGAP22	MEAK7	Q6P9B6	449
ARHGAP22	FRMPD2	Q68DX3	449
ARHGAP22	DOCK10	Q96BY6	449
ARHGAP22	LRRC27	Q9C0I9	447
ARHGAP22	WASF2	Q9Y6W5	447

IntAct

14 interactions, top by confidence:

A	B	Type	Score
CSNK1A1	FAM83G	psi-mi:“MI:0914”(association)	0.900
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ARHGAP22	CCNDBP1	psi-mi:“MI:0915”(physical association)	0.560
CCNDBP1	ARHGAP22	psi-mi:“MI:0915”(physical association)	0.560
NUP62	RGPD8	psi-mi:“MI:0914”(association)	0.530
CACNA1A	ARHGAP22	psi-mi:“MI:0915”(physical association)	0.510
ARHGAP22	FXR1	psi-mi:“MI:0915”(physical association)	0.370
FGD3	DDX39A	psi-mi:“MI:0914”(association)	0.350
CSNK1D	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ARHGAP22	KDM6A	psi-mi:“MI:0914”(association)	0.350
COL10A1	CRTAP	psi-mi:“MI:0914”(association)	0.350

BioGRID (94): ARHGAP22 (Two-hybrid), AGAP3 (Affinity Capture-MS), PIP4K2C (Affinity Capture-MS), ATF1 (Affinity Capture-MS), PIP4K2B (Affinity Capture-MS), JUN (Affinity Capture-MS), KDM6A (Affinity Capture-MS), SIRT6 (Affinity Capture-MS), IBA57 (Affinity Capture-MS), DOCK11 (Affinity Capture-MS), PLCD3 (Affinity Capture-MS), ATF2 (Affinity Capture-MS), SRBD1 (Affinity Capture-MS), DAXX (Affinity Capture-MS), CSNK1A1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JXN2, A2AWP8, O88842, O95267, P29590, P52734, P98174, Q1LY10, Q29RM4, Q2TBA3, Q3TAA7, Q3U0J8, Q3UTZ3, Q496Y0, Q4VX76, Q568M3, Q58D15, Q5BIM1, Q5JSP0, Q5R5M3, Q5R5T1, Q5REJ9, Q5W0U4, Q68FF6, Q69Z89, Q69ZK0, Q6PFY8, Q7TNM2, Q7Z4K8, Q7Z5H3, Q7Z6J4, Q80V85, Q8BY35, Q8BZ52, Q8C190, Q8N1F8, Q8TCU6, Q8WVR3, Q96JH8, Q99N48

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

4 interactions.

A	Effect	B	Mechanism
ARHGAP22	“down-regulates activity”	RHOA	“gtpase-activating protein”
ARHGAP22	“down-regulates activity”	RAC1	“gtpase-activating protein”
ARHGAP22	“down-regulates activity”	CDC42	“gtpase-activating protein”
AKT	“up-regulates activity”	ARHGAP22	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	146
Likely benign	11
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
980915	GRCh37/hg19 10q11.22-11.23(chr10:49378356-51134640)x3	Likely pathogenic

SpliceAI

2421 predictions. Top by Δscore:

Variant	Effect	Δscore
10:48446615:CGATT:C	acceptor_gain	1.0000
10:48446618:TT:T	acceptor_gain	1.0000
10:48446620:C:CC	acceptor_gain	1.0000
10:48446620:CTGAA:C	acceptor_loss	1.0000
10:48453301:TAC:T	donor_loss	1.0000
10:48453302:ACCTT:A	donor_gain	1.0000
10:48453303:CCTTC:C	donor_gain	1.0000
10:48453421:GAAAC:G	acceptor_gain	1.0000
10:48453422:AAAC:A	acceptor_gain	1.0000
10:48453423:AAC:A	acceptor_gain	1.0000
10:48453424:AC:A	acceptor_gain	1.0000
10:48453424:ACCT:A	acceptor_loss	1.0000
10:48453425:CC:C	acceptor_gain	1.0000
10:48453426:C:CC	acceptor_gain	1.0000
10:48453426:CT:C	acceptor_loss	1.0000
10:48453427:T:A	acceptor_loss	1.0000
10:48453433:G:C	acceptor_gain	1.0000
10:48454086:A:AC	donor_gain	1.0000
10:48454087:C:CC	donor_gain	1.0000
10:48455130:TTGTG:T	acceptor_gain	1.0000
10:48455131:TGTG:T	acceptor_gain	1.0000
10:48455132:GTG:G	acceptor_gain	1.0000
10:48455133:TG:T	acceptor_gain	1.0000
10:48455135:C:CC	acceptor_gain	1.0000
10:48455135:C:T	acceptor_loss	1.0000
10:48455137:G:C	acceptor_gain	1.0000
10:48479637:T:TA	donor_gain	1.0000
10:48604761:ACC:A	donor_gain	1.0000
10:48604762:CCC:C	donor_gain	1.0000
10:48446616:GATT:G	acceptor_gain	0.9900

AlphaMissense

4531 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:48453369:A:G	L308P	1.000
10:48453360:A:T	V311D	0.999
10:48453371:A:C	N307K	0.999
10:48453371:A:T	N307K	0.999
10:48453383:C:A	M303I	0.999
10:48453383:C:G	M303I	0.999
10:48453383:C:T	M303I	0.999
10:48453384:A:G	M303T	0.999
10:48453420:A:G	L291P	0.999
10:48455087:C:G	R236P	0.999
10:48455098:C:A	K232N	0.999
10:48455098:C:G	K232N	0.999
10:48455100:T:C	K232E	0.999
10:48455105:A:G	L230P	0.999
10:48459760:G:T	R195S	0.999
10:48459762:A:G	F194S	0.999
10:48451119:A:G	L337P	0.998
10:48453342:A:G	L317P	0.998
10:48453354:C:T	G313E	0.998
10:48453366:G:T	A309E	0.998
10:48453369:A:T	L308Q	0.998
10:48453384:A:C	M303R	0.998
10:48453384:A:T	M303K	0.998
10:48453389:G:C	N301K	0.998
10:48453389:G:T	N301K	0.998
10:48453411:A:T	V294D	0.998
10:48454106:A:G	L283P	0.998
10:48455081:A:G	L238P	0.998
10:48455096:A:G	L233P	0.998
10:48455102:A:G	L231P	0.998

dbSNP variants (sampled 300 via entrez): RS1000010300 (10:48436574 C>A), RS1000011995 (10:48645350 A>C), RS1000022301 (10:48521711 C>T), RS1000056463 (10:48521378 C>A,T), RS1000057488 (10:48556093 C>G,T), RS1000073719 (10:48481735 G>A,T), RS1000086254 (10:48615136 T>C), RS1000095172 (10:48597503 T>A), RS1000102419 (10:48634876 T>A,C), RS1000109453 (10:48545647 A>G), RS1000137563 (10:48617665 T>C), RS1000158722 (10:48620557 T>G), RS1000167537 (10:48544494 C>T), RS1000175907 (10:48504626 T>C,G), RS1000179790 (10:48494493 G>A)

Disease associations

OMIM: gene MIM:610585 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): long QT syndrome (MONDO:0002442)

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST000714_1	Conduct disorder	2.000000e-06
GCST000966_3	Diabetic retinopathy	2.000000e-09
GCST001952_1	Self-employment	7.000000e-06
GCST003518_9	Daytime sleep phenotypes	4.000000e-06
GCST006976_21	Macular thickness	9.000000e-24
GCST010002_287	Refractive error	2.000000e-49
GCST011422_1	Systolic blood pressure (education interaction)	1.000000e-07
GCST011424_1	Systolic blood pressure	1.000000e-07
GCST012490_291	Femur bone mineral density x serum urate levels interaction	5.000000e-09

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005241	employment status
EFO:0007828	daytime rest measurement
EFO:0006335	systolic blood pressure
EFO:0011015	educational attainment
EFO:0004531	urate measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	3
bisphenol A	decreases methylation, decreases expression, affects cotreatment, affects methylation	2
sodium arsenite	increases expression, affects methylation	2
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Dexamethasone	decreases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
FR900359	decreases phosphorylation	1
bisphenol F	increases methylation, affects cotreatment	1
propionaldehyde	increases expression	1
beta-lapachone	increases expression	1
sodium bichromate	decreases expression	1
cobaltous chloride	decreases expression	1
butyraldehyde	increases expression	1
potassium chromate(VI)	increases expression	1
aflatoxin B2	affects methylation	1
muconaldehyde	decreases expression	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, increases expression	1
NSC 689534	affects binding, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Dasatinib	decreases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02513940	PHASE4	COMPLETED	Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883	PHASE4	COMPLETED	Reducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04675788	PHASE4	COMPLETED	Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT01648205	PHASE2	COMPLETED	Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709	PHASE2	UNKNOWN	Long QT Syndrome Screening in Newborns
NCT04581408	PHASE2	COMPLETED	Mutation-specific Therapy for the Long QT Syndrome
NCT00316459	PHASE1	COMPLETED	Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003	PHASE1	COMPLETED	Study of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532	PHASE1	COMPLETED	Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829	PHASE1	COMPLETED	Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962	PHASE1	COMPLETED	Phase 1 Study of LQT-1213 in Healthy Adults
NCT05906732	PHASE1/PHASE2	TERMINATED	Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2).
NCT00005176	Not specified	COMPLETED	Long QT Syndrome-Population Genetics and Cardiac Studies
NCT00005250	Not specified	COMPLETED	Linkage Study of Long QT Syndrome In An Amish Kindred
NCT00005367	Not specified	COMPLETED	Epidemiology of Long QTand Asian Sudden Death in Sleep
NCT00221832	Not specified	UNKNOWN	Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
NCT00292032	Not specified	COMPLETED	Registry of Unexplained Cardiac Arrest
NCT00335036	Not specified	TERMINATED	Pediatric Lead Extractability and Survival Evaluation (PLEASE)
NCT00399412	Not specified	COMPLETED	ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients
NCT00488254	Not specified	COMPLETED	The Long QT Syndrome in Pregnancy
NCT00588965	Not specified	COMPLETED	Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects
NCT01705925	Not specified	COMPLETED	Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome
NCT01903564	Not specified	COMPLETED	Fetal and Neonatal Magnetophysiology
NCT02082431	Not specified	COMPLETED	Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
NCT02413450	Not specified	ENROLLING_BY_INVITATION	Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
NCT02425189	Not specified	COMPLETED	The Canadian National Long QT Syndrome Registry
NCT02439645	Not specified	TERMINATED	A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes
NCT02439658	Not specified	UNKNOWN	Genetics of QT Prolongation With Antiarrhythmics
NCT02549664	Not specified	COMPLETED	Exercise in Genetic Cardiovascular Conditions
NCT02581241	Not specified	COMPLETED	Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome
NCT02680080	Not specified	COMPLETED	Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome
NCT02775513	Not specified	UNKNOWN	Metabolism of Patients With Genetically Caused Cardiac Arrhythmia
NCT02814981	Not specified	UNKNOWN	Hydroxyzine and Risk of Prolongation of QT Interval
NCT02876380	Not specified	COMPLETED	Prospective Identification of Long QT Syndrome in Fetal Life
NCT03182777	Not specified	COMPLETED	Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies
NCT03544918	Not specified	COMPLETED	Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort
NCT03642405	Not specified	UNKNOWN	Drug-induced Repolarization ECG Changes
NCT03678311	Not specified	COMPLETED	Long QT Syndrome and Sleep Apnea