VEPH1

Summary

VEPH1 (ventricular zone expressed PH domain containing 1, HGNC:25735) is a protein-coding gene on chromosome 3q25.31-q25.32, encoding Ventricular zone-expressed PH domain-containing protein homolog 1 (Q14D04). Interacts with TGF-beta receptor type-1 (TGFBR1) and inhibits dissociation of activated SMAD2 from TGFBR1, impeding its nuclear accumulation and resulting in impaired TGF-beta signaling.

Predicted to enable phosphatidylinositol-5-phosphate binding activity. Involved in negative regulation of SMAD protein signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in endomembrane system. Predicted to be active in plasma membrane.

Source: NCBI Gene 79674 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 120 total
• MANE Select transcript: NM_001167912

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25735
Approved symbol	VEPH1
Name	ventricular zone expressed PH domain containing 1
Location	3q25.31-q25.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ12604, KIAA1692
Ensembl gene	ENSG00000197415
Ensembl biotype	protein_coding
OMIM	609594
Entrez	79674

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 13 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000362010, ENST00000392832, ENST00000392833, ENST00000461299, ENST00000468233, ENST00000469007, ENST00000472419, ENST00000473907, ENST00000475050, ENST00000479987, ENST00000482434, ENST00000482685, ENST00000483440, ENST00000487753, ENST00000488772, ENST00000489602, ENST00000490235, ENST00000494677, ENST00000537559, ENST00000873027, ENST00000873028, ENST00000970316

RefSeq mRNA: 6 — MANE Select: NM_001167912 NM_001167911, NM_001167912, NM_001167915, NM_001167916, NM_001167917, NM_024621

CCDS: CCDS3179, CCDS54661, CCDS54662, CCDS54663

Canonical transcript exons

ENST00000362010 — 14 exons

Exon	Start	End
ENSE00001019544	157363364	157363761
ENSE00001019550	157317062	157317201
ENSE00001077011	157265526	157265662
ENSE00001077012	157286557	157286674
ENSE00001077015	157313621	157313755
ENSE00001271857	157259742	157261370
ENSE00001933482	157503277	157503416
ENSE00003553585	157364303	157364512
ENSE00003561694	157495212	157495506
ENSE00003572724	157470314	157470529
ENSE00003595592	157381156	157381376
ENSE00003675721	157460181	157460355
ENSE00003686970	157413881	157414090
ENSE00003788071	157428322	157428488

Expression profiles

Bgee: expression breadth ubiquitous, 178 present calls, max score 93.08.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3484 / max 273.0981, expressed in 1042 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45315	3.3188	589
45309	1.6274	263
45308	0.9543	299
45307	0.1729	99
202996	0.1269	71
45306	0.1042	58
45311	0.0374	12
45310	0.0066	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pigmented layer of retina	UBERON:0001782	93.08	gold quality
ventricular zone	UBERON:0003053	92.16	gold quality
kidney epithelium	UBERON:0004819	91.64	gold quality
lower lobe of lung	UBERON:0008949	89.26	gold quality
left adrenal gland cortex	UBERON:0035825	89.02	gold quality
left adrenal gland	UBERON:0001234	88.81	gold quality
right adrenal gland cortex	UBERON:0035827	88.53	gold quality
right adrenal gland	UBERON:0001233	88.29	gold quality
adrenal cortex	UBERON:0001235	88.06	gold quality
adrenal gland	UBERON:0002369	87.33	gold quality
ganglionic eminence	UBERON:0004023	87.29	gold quality
pituitary gland	UBERON:0000007	86.38	gold quality
lung	UBERON:0002048	85.45	gold quality
corpus epididymis	UBERON:0004359	85.08	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.00	gold quality
adenohypophysis	UBERON:0002196	84.85	gold quality
epithelial cell of pancreas	CL:0000083	83.82	gold quality
kidney	UBERON:0002113	83.66	gold quality
upper lobe of lung	UBERON:0008948	83.49	gold quality
adult mammalian kidney	UBERON:0000082	83.33	gold quality
upper lobe of left lung	UBERON:0008952	83.02	gold quality
right lung	UBERON:0002167	82.60	gold quality
oviduct epithelium	UBERON:0004804	82.46	gold quality
monocyte	CL:0000576	82.33	gold quality
metanephros cortex	UBERON:0010533	81.69	gold quality
body of pancreas	UBERON:0001150	81.60	gold quality
renal medulla	UBERON:0000362	80.81	gold quality
leukocyte	CL:0000738	80.79	gold quality
adrenal tissue	UBERON:0018303	80.42	gold quality
cortex of kidney	UBERON:0001225	80.15	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	20.69
E-GEOD-93593	yes	16.24
E-GEOD-130148	yes	8.68
E-MTAB-7249	yes	3.06
E-CURD-11	no	28.81

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
LATS1	Repression
LATS2	Repression
YAP1	Activation

Upstream regulators (CollecTRI, top): LATS1, LATS2

miRNA regulators (miRDB)

79 targeting VEPH1, 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-4776-3P	100.00	68.73	1340
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-6515-3P	99.82	68.19	1933
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4766-5P	99.75	69.23	2662

Literature-anchored findings (GeneRIF, showing 7)

• studies indicate that VEPH1 inhibits TGF-beta signaling by impeding the release of activated SMAD2 from TbetaRI and may modulate TGF-beta signaling during development and cancer initiation or progression (PMID:26039994)
• Low VEPH1 expression is associated with ovarian cancer. (PMID:28301874)
• VEPH1 acts to enhance Androgen Receptor (AR) activity in ovarian cancer cells by decreasing SMAD3 and pAKT levels, resulting in increased levels of AR protein. (PMID:31614206)
• A novel role of VEPH1 in regulating AoSMC phenotypic switching. (PMID:32342520)
• Dampened VEPH1 activates mTORC1 signaling by weakening the TSC1/TSC2 association in hepatocellular carcinoma. (PMID:32610114)
• The adaptor protein VEPH1 interacts with the kinase domain of ERBB2 and impacts EGF signaling in ovarian cancer cells. (PMID:36828346)
• VEPH1 suppresses the progression of gastric cancer by regulating the Hippo-YAP signalling pathway. (PMID:37244789)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	veph1	ENSDARG00000031095
mus_musculus	Veph1	ENSMUSG00000027831
rattus_norvegicus	Veph1	ENSRNOG00000012427
drosophila_melanogaster	melt	FBGN0023001
caenorhabditis_elegans		WBGENE00019615

Protein

Protein identifiers

Ventricular zone-expressed PH domain-containing protein homolog 1 — Q14D04 (reviewed: Q14D04)

Alternative names: Protein melted

All UniProt accessions (7): C9IZY4, C9J379, C9J4U8, C9JRT0, Q14D04, F8WBD3, F8WBQ3

UniProt curated annotations — full annotation on UniProt →

Function. Interacts with TGF-beta receptor type-1 (TGFBR1) and inhibits dissociation of activated SMAD2 from TGFBR1, impeding its nuclear accumulation and resulting in impaired TGF-beta signaling. May also affect FOXO, Hippo and Wnt signaling.

Subunit / interactions. Interacts with TGFBR1.

Subcellular location. Cell membrane.

Domain organisation. The PH domain is required for membrane targeting.

Similarity. Belongs to the MELT/VEPH family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q14D04-1	1	yes
Q14D04-2	2
Q14D04-3	3
Q14D04-4	4

RefSeq proteins (6): NP_001161383, NP_001161384, NP_001161387, NP_001161388, NP_001161389, NP_078897 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR039888	Melted-like	Family

Pfam: PF00169

UniProt features (21 total): sequence variant 8, splice variant 5, region of interest 3, sequence conflict 2, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14D04-F1	73.24	0.23

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (3): regulation of signal transduction (GO:0009966), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), negative regulation of SMAD protein signal transduction (GO:0060392)

GO Molecular Function (2): phosphatidylinositol-5-phosphate binding (GO:0010314), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway	2
cellular anatomical structure	2
signal transduction	1
regulation of cell communication	1
regulation of signaling	1
regulation of response to stimulus	1
transforming growth factor beta receptor signaling pathway	1
regulation of transforming growth factor beta receptor signaling pathway	1
regulation of SMAD protein signal transduction	1
SMAD protein signal transduction	1
negative regulation of intracellular signal transduction	1
anion binding	1
phosphatidylinositol phosphate binding	1
binding	1
membrane	1
cell periphery	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

398 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
VEPH1	PLEK2	Q9NYT0	610
VEPH1	CCDC117	Q8IWD4	607
VEPH1	PLEK	P08567	596
VEPH1	MEGF11	A6BM72	532
VEPH1	SPMIP2	Q96LM5	490
VEPH1	ACVR1	Q04771	460
VEPH1	MSANTD4	Q8NCY6	452
VEPH1	BMPR1B	P78366	427
VEPH1	SLC16A4	O15374	407
VEPH1	PTAFR	P25105	395
VEPH1	SLC66A1LP	A1A4F0	377
VEPH1	CNTNAP5	Q8WYK1	369
VEPH1	CIT	O14578	354
VEPH1	LRRC4	Q9HBW1	329
VEPH1	F5GXT2	F5GXT2	324

IntAct

13 interactions, top by confidence:

A	B	Type	Score
SCRIB	VEPH1	psi-mi:“MI:0407”(direct interaction)	0.440
SHANK1	VEPH1	psi-mi:“MI:0407”(direct interaction)	0.440
VEPH1	DLG5	psi-mi:“MI:0915”(physical association)	0.400
VEPH1	CFTR	psi-mi:“MI:0915”(physical association)	0.370
P		psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
VEPH1	TOP3B	psi-mi:“MI:0914”(association)	0.350
EIF1B	VEPH1	psi-mi:“MI:0915”(physical association)	0.000
GSTK1	VEPH1	psi-mi:“MI:0915”(physical association)	0.000
TSC22D1	VEPH1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): TNFAIP3 (Affinity Capture-MS), TOP3B (Affinity Capture-MS), TUBA4A (Affinity Capture-MS), DLG5 (Affinity Capture-MS), VEPH1 (PCA), VEPH1 (Protein-peptide)

ESM2 similar proteins: A0A1B0GW35, A6QNM3, B0R034, B1ANS9, B9EK06, D2KC46, D3ZY60, F1MS15, F1P065, F1REV3, O00522, O15091, O75747, P10911, P58069, Q008S8, Q14449, Q14D04, Q15283, Q32NR9, Q45GW3, Q4R366, Q4R6T7, Q5H9U9, Q5K651, Q5PQS3, Q5XGX5, Q5XIZ9, Q5ZLD2, Q60862, Q63713, Q69Z37, Q6DCF6, Q6S5J6, Q6TNJ1, Q75PQ8, Q80W71, Q86VD1, Q86YR7, Q8C5W4

Diamond homologs: A1A535, A2BID5, Q14D04, Q5PQS3, Q9VS24

SIGNOR signaling

7 interactions.

A	Effect	B	Mechanism
LATS1	“down-regulates quantity by repression”	VEPH1	“transcriptional regulation”
LATS2	“down-regulates quantity by repression”	VEPH1	“transcriptional regulation”
VEPH1	“down-regulates quantity by repression”	LATS1	“transcriptional regulation”
VEPH1	“down-regulates quantity by repression”	LATS2	“transcriptional regulation”
VEPH1	“up-regulates quantity by expression”	YAP1	“transcriptional regulation”
VEPH1	“down-regulates quantity by repression”	LATS1/2	“transcriptional regulation”
LATS1/2	“down-regulates quantity by repression”	VEPH1	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	91
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4045 predictions. Top by Δscore:

Variant	Effect	Δscore
3:157289535:T:C	acceptor_gain	1.0000
3:157317199:TGT:T	acceptor_gain	1.0000
3:157317202:C:CC	acceptor_gain	1.0000
3:157363359:CTTA:C	donor_loss	1.0000
3:157363360:TTACC:T	donor_loss	1.0000
3:157363361:TA:T	donor_loss	1.0000
3:157363362:A:T	donor_loss	1.0000
3:157364298:TATA:T	donor_loss	1.0000
3:157364300:TACCT:T	donor_loss	1.0000
3:157364301:A:AG	donor_loss	1.0000
3:157364302:C:CT	donor_loss	1.0000
3:157364508:TTCTC:T	acceptor_gain	1.0000
3:157364509:TCTC:T	acceptor_gain	1.0000
3:157364510:CTC:C	acceptor_gain	1.0000
3:157364510:CTCC:C	acceptor_gain	1.0000
3:157364511:TC:T	acceptor_gain	1.0000
3:157364511:TCC:T	acceptor_gain	1.0000
3:157364512:CC:C	acceptor_gain	1.0000
3:157364513:C:CC	acceptor_gain	1.0000
3:157364513:C:T	acceptor_gain	1.0000
3:157364514:T:G	acceptor_loss	1.0000
3:157381151:CTCA:C	donor_loss	1.0000
3:157381152:TCA:T	donor_loss	1.0000
3:157381153:CA:C	donor_loss	1.0000
3:157381155:C:CT	donor_loss	1.0000
3:157381381:C:CT	acceptor_gain	1.0000
3:157413875:ACTT:A	donor_loss	1.0000
3:157413876:CTT:C	donor_loss	1.0000
3:157413877:TTAC:T	donor_loss	1.0000
3:157413878:TA:T	donor_loss	1.0000

AlphaMissense

5554 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:157261206:C:A	W810C	0.999
3:157261206:C:G	W810C	0.999
3:157261208:A:G	W810R	0.999
3:157261208:A:T	W810R	0.999
3:157261273:A:G	F788S	0.999
3:157265585:A:G	W736R	0.999
3:157265585:A:T	W736R	0.999
3:157286590:A:G	C699R	0.999
3:157261267:A:C	I790S	0.998
3:157261267:A:G	I790T	0.998
3:157265563:A:G	L743P	0.998
3:157265583:C:A	W736C	0.998
3:157265583:C:G	W736C	0.998
3:157265623:A:G	L723P	0.998
3:157261240:A:G	F799S	0.997
3:157261267:A:T	I790N	0.997
3:157261330:A:T	V769E	0.997
3:157261339:A:T	L766H	0.997
3:157265548:A:G	L748P	0.997
3:157265569:A:G	F741S	0.997
3:157286581:A:G	C702R	0.997
3:157286588:G:C	C699W	0.997
3:157286596:A:G	W697R	0.997
3:157286596:A:T	W697R	0.997
3:157317140:G:C	C599W	0.997
3:157317142:A:G	C599R	0.997
3:157470466:C:G	A68P	0.997
3:157495287:G:C	F21L	0.997
3:157495287:G:T	F21L	0.997
3:157495289:A:G	F21L	0.997

dbSNP variants (sampled 300 via entrez): RS1000029998 (3:157503339 C>T), RS1000031187 (3:157391192 C>A), RS1000036006 (3:157372253 C>G,T), RS1000038135 (3:157325551 G>A,T), RS1000041938 (3:157289707 C>T), RS1000065281 (3:157401289 T>C), RS1000074101 (3:157437519 C>A,G,T), RS1000083255 (3:157287953 C>T), RS1000121904 (3:157277579 C>A), RS1000142113 (3:157382081 G>A), RS1000145280 (3:157348961 CA>C), RS1000148183 (3:157460780 G>A), RS1000154626 (3:157479958 G>A), RS1000158314 (3:157489515 T>G), RS1000180454 (3:157463159 G>A)

Disease associations

OMIM: gene MIM:609594 | disease phenotypes: MIM:192500

GenCC curated gene-disease

Mondo (1): familial long QT syndrome (MONDO:0019171)

Orphanet (2): Romano-Ward syndrome (Orphanet:101016), Congenital long QT syndrome (Orphanet:768)

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001017_11	Diabetic retinopathy	9.000000e-07
GCST001108_2	Smoking cessation in chronic obstructive pulmonary disease	8.000000e-06
GCST003189_1	Hepatocellular carcinoma in hepatitis B infection	2.000000e-06
GCST005951_143	Body mass index	4.000000e-08
GCST009188_5	Lingual gyrus volume	8.000000e-06
GCST011365_88	Myocardial infarction	5.000000e-07
GCST90020029_724	Waist circumference adjusted for body mass index	3.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004319	smoking cessation
EFO:0004340	body mass index
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	4
Valproic Acid	decreases expression, increases expression	3
bisphenol A	decreases methylation, increases expression, affects methylation, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression	2
Panobinostat	affects cotreatment, increases expression	2
Arsenic	affects expression, affects cotreatment, increases abundance, increases expression	2
Nickel	decreases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
FR900359	increases phosphorylation	1
sotorasib	affects cotreatment, decreases expression	1
methyleugenol	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
mono-(2-ethylhexyl)phthalate	increases expression	1
cobaltous chloride	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	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, increases expression	1
belinostat	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	affects cotreatment, decreases expression	1
incobotulinumtoxinA	increases expression	1
NSC 689534	affects binding, increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	decreases expression, affects cotreatment	1
Dasatinib	decreases 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