GPATCH2

Summary

GPATCH2 (G-patch domain containing 2, HGNC:25499) is a protein-coding gene on chromosome 1q41, encoding G patch domain-containing protein 2 (Q9NW75). Enhances the ATPase activity of DHX15 in vitro.

The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55105 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 79 total — 2 pathogenic
• MANE Select transcript: NM_018040

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25499
Approved symbol	GPATCH2
Name	G-patch domain containing 2
Location	1q41
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10252, CT110, PPP1R30, Pfa1
Ensembl gene	ENSG00000092978
Ensembl biotype	protein_coding
OMIM	616836
Entrez	55105

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 protein_coding_CDS_not_defined

ENST00000366934, ENST00000366935, ENST00000470014, ENST00000485274, ENST00000489246, ENST00000885578, ENST00000885579, ENST00000911526, ENST00000911527, ENST00000911528

RefSeq mRNA: 2 — MANE Select: NM_018040 NM_001297754, NM_018040

CCDS: CCDS1518, CCDS73031

Canonical transcript exons

ENST00000366935 — 10 exons

Exon	Start	End
ENSE00000792402	217619783	217620499
ENSE00000959524	217614141	217614202
ENSE00000959525	217610889	217611071
ENSE00001205102	217449249	217449337
ENSE00001205104	217491680	217491750
ENSE00001443042	217426992	217431365
ENSE00003546089	217498356	217498395
ENSE00003642465	217610321	217610400
ENSE00003683435	217514822	217514889
ENSE00003850311	217630916	217631090

Expression profiles

Bgee: expression breadth ubiquitous, 239 present calls, max score 98.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.7147 / max 344.4867, expressed in 1750 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17500	20.3711	1750
17499	0.3436	163

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	98.60	gold quality
sperm	CL:0000019	95.88	gold quality
male germ cell	CL:0000015	91.89	gold quality
calcaneal tendon	UBERON:0003701	90.37	gold quality
endothelial cell	CL:0000115	89.58	gold quality
tendon	UBERON:0000043	86.63	gold quality
adrenal tissue	UBERON:0018303	86.14	gold quality
secondary oocyte	CL:0000655	85.77	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.19	gold quality
visceral pleura	UBERON:0002401	84.22	gold quality
ventricular zone	UBERON:0003053	83.95	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.27	gold quality
left testis	UBERON:0004533	82.34	gold quality
gall bladder	UBERON:0002110	82.31	gold quality
testis	UBERON:0000473	82.05	gold quality
right testis	UBERON:0004534	82.00	gold quality
sural nerve	UBERON:0015488	80.82	gold quality
colonic epithelium	UBERON:0000397	80.62	gold quality
cortical plate	UBERON:0005343	80.50	gold quality
tendon of biceps brachii	UBERON:0008188	80.46	gold quality
rectum	UBERON:0001052	80.42	gold quality
pleura	UBERON:0000977	80.35	gold quality
ganglionic eminence	UBERON:0004023	80.26	gold quality
left lobe of thyroid gland	UBERON:0001120	79.96	gold quality
thyroid gland	UBERON:0002046	79.77	gold quality
right uterine tube	UBERON:0001302	79.70	gold quality
bronchial epithelial cell	CL:0002328	79.51	gold quality
tibia	UBERON:0000979	79.36	gold quality
tibial nerve	UBERON:0001323	79.36	gold quality
mucosa of stomach	UBERON:0001199	79.09	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	397.41
E-ANND-3	yes	6.33
E-GEOD-75367	no	183.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

250 targeting GPATCH2, 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-3163	100.00	77.23	8605
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-223-3P	99.99	70.14	1140
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-607	99.97	73.62	5593
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-570-3P	99.96	72.41	4910

Literature-anchored findings (GeneRIF, showing 2)

• Involvement of GPATCH2 overexpression in breast carcinogensis is reported. (PMID:19432882)
• GPATC2 may be involved in inhibiting G1-S phase transition in 293T cells. (PMID:25376275)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	gpatch2	ENSDARG00000101260
mus_musculus	Gpatch2	ENSMUSG00000039210
rattus_norvegicus	Gpatch2	ENSRNOG00000002512

Paralogs (1): GPATCH2L (ENSG00000089916)

Protein

Protein identifiers

G patch domain-containing protein 2 — Q9NW75 (reviewed: Q9NW75)

All UniProt accessions (1): Q9NW75

UniProt curated annotations — full annotation on UniProt →

Function. Enhances the ATPase activity of DHX15 in vitro.

Subunit / interactions. Interacts with DHX15.

Subcellular location. Nucleus speckle. Nucleus. Nucleolus.

Tissue specificity. Testis.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NW75-1	1	yes
Q9NW75-2	2

RefSeq proteins (2): NP_001284683, NP_060510* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000467	G_patch_dom	Domain
IPR051189	Splicing_assoc_domain	Family

Pfam: PF01585

UniProt features (17 total): modified residue 4, compositionally biased region 4, region of interest 3, splice variant 2, sequence conflict 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NW75-F1	55.60	0.06

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (4): 117, 146, 195, 115

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 189 (showing top): ELVIDGE_HYPOXIA_DN, GOZGIT_ESR1_TARGETS_DN, WANG_LMO4_TARGETS_DN, MODULE_206, HP1SITEFACTOR_Q6, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, AML1_01, BERNARD_PPAPDC1B_TARGETS_UP, WALLACE_PROSTATE_CANCER_RACE_DN, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, LIU_SOX4_TARGETS_DN, GOCC_RIBONUCLEOPROTEIN_GRANULE, CHEN_HOXA5_TARGETS_9HR_UP

GO Biological Process (0):

GO Molecular Function (2): nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), nucleolus (GO:0005730), nuclear speck (GO:0016607)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
nuclear ribonucleoprotein granule	1

Protein interactions and networks

STRING

696 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GPATCH2	DHX15	O43143	948
GPATCH2	TFIP11	Q9UBB9	653
GPATCH2	LTV1	Q96GA3	637
GPATCH2	NOB1	Q9ULX3	629
GPATCH2	SPATA17	Q96L03	621
GPATCH2	RRP15	Q9Y3B9	608
GPATCH2	KCTD3	Q9Y597	532
GPATCH2	RIOK2	Q9BVS4	510
GPATCH2	ACSL4	O60488	474
GPATCH2	RIOK1	Q9BRS2	455
GPATCH2	OR13C3	Q8NGS6	450
GPATCH2	APP	P05067	444
GPATCH2	GPX4	P36969	435
GPATCH2	CMTR2	Q8IYT2	414
GPATCH2	BRINP3	Q76B58	407

IntAct

24 interactions, top by confidence:

A	B	Type	Score
CSNK2A2	EIF3J	psi-mi:“MI:0914”(association)	0.790
COMMD4	VPS26C	psi-mi:“MI:0914”(association)	0.730
CSNK2B	NMT2	psi-mi:“MI:0914”(association)	0.660
CSNK2A2	PES1	psi-mi:“MI:0914”(association)	0.640
PPP1CA	GPATCH2	psi-mi:“MI:0407”(direct interaction)	0.440
GPATCH2	SMC3	psi-mi:“MI:0915”(physical association)	0.400
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
EGLN3	FAM168B	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	CNOT1	psi-mi:“MI:0914”(association)	0.350
CSNK2A1	EIF3F	psi-mi:“MI:0914”(association)	0.350
COPA	ESYT2	psi-mi:“MI:0914”(association)	0.350
COPE	ESYT2	psi-mi:“MI:0914”(association)	0.350
CSNK2A1	RPS3A	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	VWA8	psi-mi:“MI:0914”(association)	0.350
CSNK2B	OSBPL8	psi-mi:“MI:0914”(association)	0.350
SYT2	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
FGF11	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
FGF12	SUPT5H	psi-mi:“MI:0914”(association)	0.350
GPATCH2	LRP5	psi-mi:“MI:0914”(association)	0.350
CSNK2A2	SAP18	psi-mi:“MI:0914”(association)	0.350
SBDS	RPSA2	psi-mi:“MI:2364”(proximity)	0.270
DDX6	RPSA2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (49): GPATCH2 (Affinity Capture-MS), GPATCH2 (Affinity Capture-MS), GPATCH2 (Affinity Capture-MS), GPATCH2 (Affinity Capture-MS), GPATCH2 (Affinity Capture-MS), GPATCH2 (Affinity Capture-MS), GPATCH2 (Affinity Capture-RNA), GPATCH2 (Affinity Capture-MS), GPATCH2 (Affinity Capture-MS), PICK1 (Two-hybrid), CSNK2A1 (Two-hybrid), TSNAX (Two-hybrid), MAGEB4 (Two-hybrid), DPY30 (Two-hybrid), SMC3 (Proximity Label-MS)

ESM2 similar proteins: A0A5N6H279, A6NDR6, A7J1T0, A7J1T2, B3P851, B4IC49, B4PRU6, C5DH39, C5DZR8, F4J6F6, M0R5D6, O43283, O54835, O70436, O88738, P05549, P06434, P06435, P16794, P42003, P46934, P97368, Q05323, Q0P4S0, Q11107, Q15796, Q1HKZ5, Q1W668, Q21733, Q27571, Q387Y5, Q567C6, Q56I99, Q56XX3, Q5R7C0, Q5R8X7, Q5YDB6, Q62432, Q6DIB4, Q77DJ5

Diamond homologs: A0JMV4, A4IGK4, A4L691, A5DSB5, B2GV05, P15771, P52756, P70501, P98175, Q0IIX9, Q17784, Q1RMU5, Q5ZII9, Q66J74, Q68FU8, Q6C233, Q6DDU9, Q7TN31, Q7TQC7, Q8CH02, Q8CH09, Q8IWZ8, Q8IX01, Q8N302, Q91YE7, Q94C11, Q96BK5, Q99KG3, Q9CZX5, Q9NW75, Q9UTK6, P78332, A5DEF8, A6ZRL6, A7TQN2, O74363, O94585, P53866, Q59UG4, Q6BYP9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	63
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
443565	GRCh37/hg19 1q41(chr1:217699328-218689648)x1	Pathogenic
60082	GRCh38/hg38 1q41(chr1:217452423-218818361)x1	Pathogenic

SpliceAI

2861 predictions. Top by Δscore:

Variant	Effect	Δscore
1:217491675:CTTA:C	donor_loss	1.0000
1:217491676:TTA:T	donor_loss	1.0000
1:217491677:TA:T	donor_loss	1.0000
1:217491678:ACCT:A	donor_loss	1.0000
1:217491679:C:CT	donor_loss	1.0000
1:217491679:CCTG:C	donor_gain	1.0000
1:217491751:C:CC	acceptor_gain	1.0000
1:217491756:CAAAG:C	acceptor_gain	1.0000
1:217491760:G:C	acceptor_gain	1.0000
1:217491760:G:GC	acceptor_gain	1.0000
1:217491776:A:C	acceptor_gain	1.0000
1:217514814:GTACT:G	donor_loss	1.0000
1:217514815:TAC:T	donor_loss	1.0000
1:217514816:ACT:A	donor_loss	1.0000
1:217514818:TCA:T	donor_loss	1.0000
1:217514819:CACT:C	donor_loss	1.0000
1:217514820:A:AC	donor_gain	1.0000
1:217514820:ACT:A	donor_gain	1.0000
1:217514821:C:CG	donor_gain	1.0000
1:217514821:CT:C	donor_gain	1.0000
1:217514821:CTC:C	donor_gain	1.0000
1:217514821:CTCA:C	donor_gain	1.0000
1:217514821:CTCAT:C	donor_gain	1.0000
1:217514887:TACC:T	acceptor_loss	1.0000
1:217514890:C:A	acceptor_loss	1.0000
1:217514891:T:A	acceptor_loss	1.0000
1:217514902:T:C	acceptor_gain	1.0000
1:217514902:T:TC	acceptor_gain	1.0000
1:217610400:CCT:C	acceptor_loss	1.0000
1:217610402:T:G	acceptor_loss	1.0000

AlphaMissense

3506 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:217620461:A:G	L32P	1.000
1:217431294:A:G	W480R	0.999
1:217431294:A:T	W480R	0.999
1:217611055:A:C	S284R	0.999
1:217611055:A:T	S284R	0.999
1:217611057:T:G	S284R	0.999
1:217620061:T:A	K165N	0.999
1:217620061:T:G	K165N	0.999
1:217620070:T:A	R162S	0.999
1:217620070:T:G	R162S	0.999
1:217620076:C:A	R160S	0.999
1:217620076:C:G	R160S	0.999
1:217620449:A:G	L36S	0.999
1:217620473:A:G	L28P	0.999
1:217431308:A:G	L475P	0.998
1:217449283:T:A	R444S	0.998
1:217449283:T:G	R444S	0.998
1:217449284:C:G	R444T	0.998
1:217620063:T:C	K165E	0.998
1:217620071:C:G	R162T	0.998
1:217620073:C:A	R161S	0.998
1:217620073:C:G	R161S	0.998
1:217620077:C:A	R160M	0.998
1:217620077:C:G	R160T	0.998
1:217620453:C:G	A35P	0.998
1:217620461:A:T	L32H	0.998
1:217620464:T:A	D31V	0.998
1:217431292:C:A	W480C	0.997
1:217431292:C:G	W480C	0.997
1:217611069:C:G	D280H	0.997

dbSNP variants (sampled 300 via entrez): RS1000019850 (1:217519948 G>A), RS1000021386 (1:217610700 A>C,G), RS1000021668 (1:217428411 A>T), RS1000038538 (1:217608483 G>A), RS1000067868 (1:217568041 C>T), RS1000068246 (1:217598104 C>T), RS1000087360 (1:217441571 G>A,C), RS1000116791 (1:217560912 T>G), RS1000126270 (1:217526004 T>C), RS1000127252 (1:217470588 C>T), RS1000144602 (1:217441764 G>A,C), RS1000148057 (1:217601732 T>C), RS1000185518 (1:217572401 C>G), RS1000258971 (1:217505384 A>G), RS1000259635 (1:217551034 T>G)

Disease associations

OMIM: gene MIM:616836 | 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

10 associations (top):

Study	Trait	p-value
GCST001066_7	Dialysis-related mortality	4.000000e-06
GCST001523_29	Visceral adipose tissue adjusted for BMI	6.000000e-06
GCST003818_8	Resting heart rate	1.000000e-11
GCST003992_28	Photic sneeze reflex	1.000000e-72
GCST004280_50	Diastolic blood pressure	2.000000e-10
GCST004524_9	Energy expenditure (24h)	8.000000e-06
GCST006086_12	Familial lung cancer	4.000000e-06
GCST007094_56	Diastolic blood pressure	2.000000e-08
GCST010396_176	Gut microbiota (bacterial taxa, hurdle binary method)	3.000000e-06
GCST011741_67	LDL cholesterol levels in HIV infection	4.000000e-06

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007887	autosomal dominant compelling helio-ophthalmic outburst syndrome
EFO:0006336	diastolic blood pressure
EFO:0006953	family history of lung cancer
EFO:0007874	gut microbiome measurement
EFO:0004611	low density lipoprotein cholesterol 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, increases expression	4
trichostatin A	decreases expression, increases expression, affects cotreatment	3
entinostat	decreases expression, increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, affects expression	2
FR900359	increases phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
resorcinol	decreases expression	1
di-n-butylphosphoric acid	affects 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 expression, affects cotreatment, decreases expression	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, decreases expression, affects expression	1
PCI 5002	affects cotreatment, increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Temozolomide	increases expression	1
Vorinostat	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	decreases phosphorylation	1
Demecolcine	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SQ32	HAP1 GPATCH2 (-) 1	Cancer cell line	Male
CVCL_SQ33	HAP1 GPATCH2 (-) 2	Cancer cell line	Male
CVCL_SQ34	HAP1 GPATCH2 (-) 3	Cancer cell line	Male
CVCL_SQ35	HAP1 GPATCH2 (-) 4	Cancer cell line	Male

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