PTOV1

gene
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Summary

PTOV1 (PTOV1 extended AT-hook containing adaptor protein, HGNC:9632) is a protein-coding gene on chromosome 19q13.33, encoding Prostate tumor-overexpressed gene 1 protein (Q86YD1). May activate transcription.

This gene encodes a protein that was found to be overexpressed in prostate adenocarcinomas. The encoded protein was found to interact with the lipid raft protein flotillin-1 and shuttle it from the cytoplasm to the nucleus in a cell cycle dependent manner. Alternative splicing of this gene results in multiple transcript variants.

Source: NCBI Gene 53635 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 114 total
  • MANE Select transcript: NM_001394010

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:9632
Approved symbolPTOV1
NamePTOV1 extended AT-hook containing adaptor protein
Location19q13.33
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000104960
Ensembl biotypeprotein_coding
OMIM610195
Entrez53635

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 9 protein_coding, 6 retained_intron, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000391842, ENST00000594151, ENST00000594165, ENST00000594640, ENST00000595934, ENST00000596095, ENST00000596424, ENST00000597730, ENST00000597793, ENST00000598325, ENST00000598632, ENST00000599732, ENST00000600105, ENST00000600603, ENST00000600793, ENST00000601093, ENST00000601501, ENST00000601612, ENST00000601638, ENST00000601675, ENST00000602040

RefSeq mRNA: 9 — MANE Select: NM_001394010 NM_001305105, NM_001305108, NM_001364745, NM_001364747, NM_001364748, NM_001364749, NM_001364750, NM_001394010, NM_017432

CCDS: CCDS12782, CCDS82379, CCDS92668

Canonical transcript exons

ENST00000391842 — 12 exons

ExonStartEnd
ENSE000015098624985115949851499
ENSE000034604004986026849860742
ENSE000034759404985483149854888
ENSE000034951664985790449857977
ENSE000035268114985697549857130
ENSE000036272294985998649860183
ENSE000036473724985465249854734
ENSE000036506154985497049855077
ENSE000036682484985854949858653
ENSE000036831184985805749858114
ENSE000036894534985440649854543
ENSE000037853594985769349857782

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 99.31.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 80.9311 / max 362.9212, expressed in 1819 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter IDTPM avgSamples expressed
17707731.98431811
17707831.89621808
1770765.10811733
1770794.21241485
1770753.63861462
1770741.6920928
1770851.1074479
1770800.8808379
1770860.200591
1770820.081712

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
ganglionic eminenceUBERON:000402399.31gold quality
ventricular zoneUBERON:000305399.30gold quality
cortical plateUBERON:000534399.29gold quality
right uterine tubeUBERON:000130299.19gold quality
right hemisphere of cerebellumUBERON:001489099.16gold quality
adenohypophysisUBERON:000219699.15gold quality
cerebellar hemisphereUBERON:000224599.10gold quality
right testisUBERON:000453499.10gold quality
cerebellar cortexUBERON:000212999.06gold quality
left testisUBERON:000453399.05gold quality
pituitary glandUBERON:000000799.00gold quality
right adrenal glandUBERON:000123398.98gold quality
right adrenal gland cortexUBERON:003582798.90gold quality
left adrenal gland cortexUBERON:003582598.85gold quality
left adrenal glandUBERON:000123498.83gold quality
left ovaryUBERON:000211998.78gold quality
right lobe of thyroid glandUBERON:000111998.76gold quality
right ovaryUBERON:000211898.74gold quality
adrenal cortexUBERON:000123598.68gold quality
left lobe of thyroid glandUBERON:000112098.62gold quality
endocervixUBERON:000045898.55gold quality
right frontal lobeUBERON:000281098.52gold quality
cerebellumUBERON:000203798.48gold quality
adrenal glandUBERON:000236998.39gold quality
body of uterusUBERON:000985398.32gold quality
apex of heartUBERON:000209898.29gold quality
stromal cell of endometriumCL:000225598.24gold quality
C1 segment of cervical spinal cordUBERON:000646998.23gold quality
left uterine tubeUBERON:000130398.18gold quality
hindlimb stylopod muscleUBERON:000425298.17gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes8.97

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): JUN, RARA

miRNA regulators (miRDB)

14 targeting PTOV1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-211099.9666.681930
HSA-MIR-6721-5P99.9368.922981
HSA-MIR-4731-5P99.8967.232537
HSA-MIR-6857-5P99.8765.32985
HSA-MIR-3187-5P98.3665.741776
HSA-MIR-6810-5P98.2966.21975
HSA-MIR-6801-3P98.0464.64805
HSA-MIR-6810-3P97.9664.571023
HSA-MIR-450A-2-3P97.9167.561459
HSA-MIR-1285-3P97.7267.021932
HSA-MIR-5189-5P97.7266.961814
HSA-MIR-61297.2665.951597
HSA-MIR-686097.2166.311656
HSA-MIR-6782-5P96.4564.42612

Literature-anchored findings (GeneRIF, showing 21)

  • This protein, overexpressed in prostate cancer, shuttles between the cytoplasm and the nucleus and promotes entry into the S phase of the cell division cycle. (PMID:12598323)
  • PTOV1 assists flotillin-1 in its translocation to the nucleus and both proteins are required for cell proliferation. (PMID:15713644)
  • PTOV1 is overexpressed in high-grade prostatic intraepithelial neoplasia associated with cancer and is a potential marker for studying the carcinogenesis and progression of prostate cancer. (PMID:18451224)
  • MED25 and PTOV1 differentially modulate retinoic acid sensitivity in cancer cells depending on their expression levels. (PMID:21110951)
  • PTOV1 expression is associated to more aggressive human carcinomas and more significantly to bladder carcinomas suggesting that this protein is a potential new marker of aggressive disease in the latter tumors. (PMID:21181414)
  • alpha-Methyl-CoA racemase can be considered a more accurate marker than PTOV1 in the identification of high-grade prostatic intraepithelial neoplasia (HGPIN) and of prostate cancer. (PMID:22507319)
  • RA-induced cancer cell cytotoxicity was significantly impaired by Zyxin or PTOV1. Overall, our findings suggest that Zyxin and PTOV1 should be considered as critical determinants in cancer therapy with retinoids (PMID:23321499)
  • In prostate tumors, the overexpression of PTOV1 was associated with decreased expression of HEY1 and HES1, and this correlation was significant in metastatic lesions. (PMID:24684754)
  • The study showed that PTOV1 is upregulated in breast cancer cell lines and clinical samples, and its expression was positively associated with progression and aggressiveness of breast cancer, suggesting that PTOV1 could serve as an independent prognostic marker. (PMID:24947166)
  • PTOV1 protein abnormal expression might contribute to the malignant progression of epithelial ovarian cancer. (PMID:25270739)
  • Our study demonstrated that PTOV1 overexpression is correlated with increased aggressiveness of hepatocellular carcinoma and could be a prognostic biomarker for patients with HCC (PMID:25634174)
  • PTOV1 overexpression is associated with poor survival outcomes of nasopharyngeal carcinoma patients. (PMID:26305455)
  • High PTOV1 expression was associated with invasive urothelial carcinoma. (PMID:26746655)
  • The combination of PTOV1 expression level and HPV status provides more prognostic information compared with HPV status alone in early-stage human laryngeal squamous cell carcinoma. (PMID:26992242)
  • All the study samples showed a considerable decrease in PTOV1 expression in prostate cancer and HGPIN compared to morphologically normal glands. (PMID:27804940)
  • Studies indicate that the number of binding partners and associated cellular functions has increased and helped to identify prostate-tumor-overexpressed-1 (PTOV1) as regulator of gene expression at transcription and translation levels. (PMID:28029646)
  • this study takes the lead to demonstrate that the overexpressed PTOV1 plays a vital role in the tumorigenesis and progression of esophageal squamous cell carcinoma, and it is potentially a valuable prognostic predicator and new chemotherapeutic target for esophageal squamous cell carcinoma (PMID:28651486)
  • PTOV1 interaction with translation complexes and its direct binding to ALDH1A1 and CCNG2 promoters found here reveal the PTOV1 capacity to modulate the expression of critical genes at multiple levels in aggressive cancers. (PMID:30922918)
  • the acquisition of resistance in laryngeal cancer seems to be related to PTOV1 (PMID:31050705)
  • PTOV1 and PIN1 interact and exert oncogenic role in MDA-MB-231 cells by sharing the similar expression profile at transcriptional and translational level which can be a promising hub for therapeutic target. (PMID:31083670)
  • this study revealed PTOV1 as a poor prognosis factor for NSCLC patients, and targeting PTOV1 can be a strategy to increase chemosensitivity in NSCLC. (PMID:31387622)

Cross-species orthologs

5 orthologs

OrganismSymbolGene ID
danio_reriomed25ENSDARG00000038005
mus_musculusPtov1ENSMUSG00000038502
rattus_norvegicusPtov1ENSRNOG00000020358
drosophila_melanogasterMED25FBGN0038760
drosophila_melanogasterCG13609FBGN0039170

Paralogs (1): MED25 (ENSG00000104973)

Protein

Protein identifiers

Prostate tumor-overexpressed gene 1 proteinQ86YD1 (reviewed: Q86YD1)

Alternative names: Activator interaction domain-containing protein 2

All UniProt accessions (8): A0A0C4DGR2, Q86YD1, M0QX53, M0QY25, M0QYH6, M0QYH7, M0QYQ4, M0QZB9

UniProt curated annotations — full annotation on UniProt →

Function. May activate transcription. Required for nuclear translocation of FLOT1. Promotes cell proliferation.

Subunit / interactions. May interact with CREBBP. Interacts with FLOT1.

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

Tissue specificity. Expressed in brain, heart, kidney, liver, placenta, skeletal muscle and small intestine.

Post-translational modifications. Ubiquitinated by the CRL2(KLHDC2) complex, which recognizes the diglycine (Gly-Gly) at the C-terminus, leading to its degradation. Ubiquitinated by the CRL2(APPBP2) complex, which recognizes the Arg-Xaa-Xaa-Gly sequence at the C-terminus, leading to its degradation.

Induction. By testosterone.

Similarity. Belongs to the Mediator complex subunit 25 family. PTOV1 subfamily.

Isoforms (3)

UniProt IDNamesCanonical?
Q86YD1-11yes
Q86YD1-22
Q86YD1-33

RefSeq proteins (9): NP_001292034, NP_001292037, NP_001351674, NP_001351676, NP_001351677, NP_001351678, NP_001351679, NP_001380939, NP_059128 (=MANE)

Domains & families (InterPro)

IDNameType
IPR021394Med25_PTOVDomain
IPR038196Med25_PTOV_sfHomologous_superfamily

Pfam: PF11232

UniProt features (10 total): splice variant 4, region of interest 2, compositionally biased region 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q86YD1-F168.430.13

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 (1): 53

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 161 (showing top): PAL_PRMT5_TARGETS_UP, ENK_UV_RESPONSE_KERATINOCYTE_UP, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, ONKEN_UVEAL_MELANOMA_UP, TGCTGAY_UNKNOWN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_DN, E4F1_Q6, DANG_BOUND_BY_MYC, TTCNRGNNNNTTC_HSF_Q6, TGGAAA_NFAT_Q4_01, CP2_01, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, SANSOM_APC_TARGETS_REQUIRE_MYC, GARY_CD5_TARGETS_UP

GO Biological Process (1): positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (0):

GO Cellular Component (7): nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471), nucleus (GO:0005634), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure4
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
positive regulation of DNA-templated transcription1
nuclear lumen1
protein-containing complex1
membrane1
cell periphery1
cytoplasm1
intracellular membrane-bounded organelle1
intracellular anatomical structure1

Protein interactions and networks

STRING

676 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PTOV1FLOT1O75955891
PTOV1FLOT2Q14254768
PTOV1MED6O75586686
PTOV1SYN3O14994586
PTOV1SYN2Q92777554
PTOV1CAMK2GQ13555524
PTOV1SYN1P17600490
PTOV1ZNF395Q9H8N7473
PTOV1NCOR2Q9Y618470
PTOV1HDAC4P56524459
PTOV1HDAC6Q9UBN7446
PTOV1CAV1Q03135430
PTOV1VWFP04275425
PTOV1CREBBPQ92793408
PTOV1AHSA1O95433400

IntAct

68 interactions, top by confidence:

ABTypeScore
CCM2KRIT1psi-mi:“MI:0914”(association)0.960
MED10MED19psi-mi:“MI:0914”(association)0.910
CDCA4PPP2R1Apsi-mi:“MI:0914”(association)0.790
BECN1ZWINTpsi-mi:“MI:0914”(association)0.750
KLHDC2CUL2psi-mi:“MI:0914”(association)0.730
YWHAHFAM83Gpsi-mi:“MI:0914”(association)0.710
YWHAGSHTN1psi-mi:“MI:0914”(association)0.560
DNAAF8CCDC85Cpsi-mi:“MI:0914”(association)0.530
KLHDC2PFDN1psi-mi:“MI:0914”(association)0.530
PEX19FAM20Bpsi-mi:“MI:0914”(association)0.530
YWHAQIGLC7psi-mi:“MI:0914”(association)0.530
NNOP56psi-mi:“MI:0914”(association)0.530
YWHAZSHTN1psi-mi:“MI:0914”(association)0.530
ZNRD2MYO9Apsi-mi:“MI:0914”(association)0.530
PTGES3AIPpsi-mi:“MI:0914”(association)0.530
FOXJ1PEX14psi-mi:“MI:0914”(association)0.530
PEX19MYO1Dpsi-mi:“MI:0914”(association)0.530
NEFMVWA8psi-mi:“MI:0914”(association)0.530
ZNRD2CCDC85Cpsi-mi:“MI:0914”(association)0.530
YWHABPLEKHG3psi-mi:“MI:0914”(association)0.480
YWHAQPLEKHG3psi-mi:“MI:0914”(association)0.480
PTOV1SFNpsi-mi:“MI:0915”(physical association)0.400
PTOV1CCR4psi-mi:“MI:0915”(physical association)0.370
MAPK6psi-mi:“MI:0914”(association)0.350
RIPK4VWA8psi-mi:“MI:0914”(association)0.350
CUL2ANXA2P2psi-mi:“MI:0914”(association)0.350
YWHAGC1orf226psi-mi:“MI:0914”(association)0.350

BioGRID (100): PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-Western), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), HDAC1 (Affinity Capture-MS), XYLT2 (Affinity Capture-MS), RTCB (Affinity Capture-MS), MTA2 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS), PTOV1 (Affinity Capture-MS)

ESM2 similar proteins: A1L1K1, A2ARM1, A2AVJ5, A4IFC9, A7E305, G5EGQ2, O08653, O36006, O43435, O46080, O95343, P13481, P28702, P28704, P56423, P56424, P56645, P61260, P97499, Q02556, Q07820, Q2NL16, Q32N92, Q5E9R0, Q5REG4, Q5SQI0, Q5TJF7, Q5U2W6, Q5U2Y1, Q61010, Q62233, Q6MZQ0, Q80V91, Q86Y01, Q86YD1, Q8AW93, Q8BIG4, Q8HYS5, Q8N9I9, Q91VU8

Diamond homologs: A0A3Q7JC00, A2VE44, A4IFC9, A4IHD9, Q5U2W6, Q6GP15, Q6PEH8, Q71SY5, Q86YD1, Q8VCB2, Q91VU8, Q9VCB1, Q9VDR1

SIGNOR signaling

2 interactions.

AEffectBMechanism
HUWE1“down-regulates quantity”PTOV1ubiquitination
SGK3“down-regulates quantity by destabilization”PTOV1phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 84 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:

PathwayPartnersFoldFDR
Activation of BAD and translocation to mitochondria689.6×5e-09
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex679.0×8e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways679.0×8e-09
Activation of BH3-only proteins658.4×5e-08
RHO GTPases activate PKNs637.3×5e-07
Intrinsic Pathway for Apoptosis634.5×8e-07
FOXO-mediated transcription532.9×1e-05
Apoptosis826.3×5e-08

GO biological processes:

GO termPartnersFoldFDR
protein targeting525.4×8e-04
intracellular protein localization710.2×1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance86
Likely benign2
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2543 predictions. Top by Δscore:

VariantEffectΔscore
19:49854399:A:AGacceptor_gain1.0000
19:49854399:ATT:Aacceptor_gain1.0000
19:49854400:T:Gacceptor_gain1.0000
19:49854401:TGCA:Tacceptor_loss1.0000
19:49854402:GCA:Gacceptor_loss1.0000
19:49854403:CA:Cacceptor_loss1.0000
19:49854404:AG:Aacceptor_gain1.0000
19:49854405:GG:Gacceptor_gain1.0000
19:49854405:GGA:Gacceptor_gain1.0000
19:49854405:GGAA:Gacceptor_gain1.0000
19:49854540:GGAG:Gdonor_gain1.0000
19:49854541:GAG:Gdonor_gain1.0000
19:49854541:GAGG:Gdonor_gain1.0000
19:49854541:GAGGT:Gdonor_loss1.0000
19:49854544:G:GGdonor_gain1.0000
19:49854544:GTGA:Gdonor_loss1.0000
19:49854545:T:Gdonor_loss1.0000
19:49854647:CACA:Cacceptor_loss1.0000
19:49854648:ACAG:Aacceptor_loss1.0000
19:49854650:A:AGacceptor_gain1.0000
19:49854650:A:Cacceptor_loss1.0000
19:49854651:G:GGacceptor_gain1.0000
19:49854651:GA:Gacceptor_gain1.0000
19:49854651:GAA:Gacceptor_gain1.0000
19:49854651:GAAGC:Gacceptor_gain1.0000
19:49854730:AACCT:Adonor_gain1.0000
19:49854731:ACCT:Adonor_gain1.0000
19:49854732:CCT:Cdonor_gain1.0000
19:49854733:CT:Cdonor_gain1.0000
19:49854733:CTGT:Cdonor_loss1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000047569 (19:49856348 C>A), RS1000149564 (19:49848816 G>A), RS1000276473 (19:49852325 C>A,T), RS1000377580 (19:49853346 G>A), RS1000841885 (19:49858656 G>A,C,T), RS1000978229 (19:49852268 C>A,T), RS1001009670 (19:49850851 T>A,C), RS1001119999 (19:49855396 G>T), RS1001496833 (19:49858847 G>A,C), RS1001800924 (19:49852033 G>A), RS1001842698 (19:49858929 C>T), RS1001975253 (19:49858820 A>G), RS1002340336 (19:49854800 G>A), RS1002392275 (19:49851504 GC>G,GCC), RS1002399157 (19:49860990 C>T)

Disease associations

OMIM: gene MIM:610195 | 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

0 associations (top):

MeSH disease descriptors (1)

DescriptorNameTree numbers
D008133Long QT SyndromeC14.280.067.565; 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

28 total (human), top 28 by PubMed support.

ChemicalActions (top 5)PubMed papers
Air Pollutantsdecreases expression, increases abundance, increases expression2
Smokedecreases expression, increases abundance, increases expression2
FR900359increases phosphorylation1
triphenyl phosphateaffects expression1
salinomycindecreases expression1
beta-lapachonedecreases expression1
arseniteincreases methylation1
sodium arseniteincreases expression1
ICG 001decreases expression1
bisphenol Sdecreases methylation1
MT19c compounddecreases expression1
Resveratrolaffects cotreatment, decreases expression1
Temozolomidedecreases expression1
Vorinostatdecreases expression1
Benzo(a)pyrenedecreases methylation1
Caffeinedecreases phosphorylation1
Methotrexateaffects response to substance1
Plant Extractsaffects cotreatment, decreases expression1
Seleniumincreases expression1
Thimerosaldecreases expression1
Thiramdecreases expression1
Tretinoinincreases expression1
Metriboloneincreases expression1
Aflatoxin B1decreases expression1
Antirheumatic Agentsincreases expression1
Palmitic Aciddecreases expression1
Genisteindecreases expression1
Particulate Matterdecreases expression, increases abundance1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT02513940PHASE4COMPLETEDInfluence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
NCT03834883PHASE4COMPLETEDReducing the Risk of Drug-Induced QT Interval Lengthening in Women
NCT04169100PHASE4UNKNOWNNovel Form of Acquired Long QT Syndrome
NCT04675788PHASE4COMPLETEDNovel Approaches for Minimizing Drug-Induced QT Interval Lengthening
NCT01648205PHASE2COMPLETEDLong-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients
NCT02412709PHASE2UNKNOWNLong QT Syndrome Screening in Newborns
NCT04581408PHASE2COMPLETEDMutation-specific Therapy for the Long QT Syndrome
NCT00316459PHASE1COMPLETEDStudy Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects
NCT01849003PHASE1COMPLETEDStudy of the Effect of GS-6615 in Subjects With LQT-3
NCT02365532PHASE1COMPLETEDEffect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults
NCT02412098PHASE1COMPLETEDPharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function
NCT02441829PHASE1COMPLETEDPharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function
NCT05759962PHASE1COMPLETEDPhase 1 Study of LQT-1213 in Healthy Adults
NCT05906732PHASE1/PHASE2TERMINATEDStudy 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).
NCT00005176Not specifiedCOMPLETEDLong QT Syndrome-Population Genetics and Cardiac Studies
NCT00005250Not specifiedCOMPLETEDLinkage Study of Long QT Syndrome In An Amish Kindred
NCT00005367Not specifiedCOMPLETEDEpidemiology of Long QTand Asian Sudden Death in Sleep
NCT00221832Not specifiedUNKNOWNMolecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases
NCT00292032Not specifiedCOMPLETEDRegistry of Unexplained Cardiac Arrest
NCT00335036Not specifiedTERMINATEDPediatric Lead Extractability and Survival Evaluation (PLEASE)
NCT00399412Not specifiedCOMPLETEDECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients
NCT00488254Not specifiedCOMPLETEDThe Long QT Syndrome in Pregnancy
NCT00588965Not specifiedCOMPLETEDEffect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects
NCT01705925Not specifiedCOMPLETEDMulticenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome
NCT01903564Not specifiedCOMPLETEDFetal and Neonatal Magnetophysiology
NCT02082431Not specifiedCOMPLETEDDetermine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss.
NCT02413450Not specifiedENROLLING_BY_INVITATIONDerivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias
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