MIDN

Summary

MIDN (midnolin, HGNC:16298) is a protein-coding gene on chromosome 19p13.3, encoding Midnolin (Q504T8). Facilitates the ubiquitin-independent proteasomal degradation of stimulus-induced transcription factors such as FOSB, EGR1, NR4A1, and IRF4 to the proteasome for degradation.

Enables molecular adaptor activity. Involved in proteasomal ubiquitin-independent protein catabolic process. Located in cytoplasm and nucleus.

Source: NCBI Gene 90007 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 133 total
• MANE Select transcript: NM_001388306

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16298
Approved symbol	MIDN
Name	midnolin
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	Stx
Ensembl gene	ENSG00000167470
Ensembl biotype	protein_coding
OMIM	606700
Entrez	90007

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 retained_intron

ENST00000300952, ENST00000590136, ENST00000591302, ENST00000591446, ENST00000682408, ENST00000872580, ENST00000937330, ENST00000937331, ENST00000937332, ENST00000937333, ENST00000937334

RefSeq mRNA: 4 — MANE Select: NM_001388306 NM_001388306, NM_001388307, NM_001388474, NM_177401

CCDS: CCDS32864, CCDS92478

Canonical transcript exons

ENST00000682408 — 9 exons

Exon	Start	End
ENSE00001153018	1255422	1255694
ENSE00001371352	1254167	1254478
ENSE00001377762	1251562	1251649
ENSE00001378771	1254902	1255061
ENSE00001388090	1249890	1250529
ENSE00002836573	1253954	1254082
ENSE00003745794	1251839	1251901
ENSE00003920019	1256995	1259143
ENSE00003920233	1248583	1248660

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 98.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 88.2926 / max 2395.7242, expressed in 1824 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
172911	47.6150	1811
172907	22.7180	1792
172923	5.9376	1548
172924	5.5490	1556
172925	1.5456	718
172906	0.9649	514
172920	0.9341	478
172910	0.7956	532
172905	0.7433	164
172922	0.2783	98

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	98.32	gold quality
mucosa of stomach	UBERON:0001199	98.27	gold quality
left uterine tube	UBERON:0001303	97.85	gold quality
kidney epithelium	UBERON:0004819	97.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.87	gold quality
adenohypophysis	UBERON:0002196	96.67	gold quality
upper arm skin	UBERON:0004263	96.63	gold quality
ganglionic eminence	UBERON:0004023	96.09	gold quality
mucosa of transverse colon	UBERON:0004991	96.09	gold quality
embryo	UBERON:0000922	96.08	gold quality
lower esophagus mucosa	UBERON:0035834	96.01	gold quality
skin of abdomen	UBERON:0001416	95.98	gold quality
pituitary gland	UBERON:0000007	95.91	gold quality
gastrocnemius	UBERON:0001388	95.88	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.85	gold quality
nasal cavity epithelium	UBERON:0005384	95.55	gold quality
buccal mucosa cell	CL:0002336	95.50	gold quality
monocyte	CL:0000576	95.45	gold quality
esophagus mucosa	UBERON:0002469	95.42	gold quality
leukocyte	CL:0000738	95.33	gold quality
superior surface of tongue	UBERON:0007371	95.29	gold quality
upper lobe of left lung	UBERON:0008952	95.09	gold quality
transverse colon	UBERON:0001157	95.07	gold quality
cortical plate	UBERON:0005343	95.07	gold quality
granulocyte	CL:0000094	94.94	gold quality
cardiac atrium	UBERON:0002081	94.91	gold quality
pharyngeal mucosa	UBERON:0000355	94.90	gold quality
right atrium auricular region	UBERON:0006631	94.90	gold quality
saphenous vein	UBERON:0007318	94.88	gold quality
vagina	UBERON:0000996	94.85	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-9841	yes	2230.20
E-ANND-3	yes	22.38

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

• midnolin plays a role in cellular signaling of adult tissues and regulates glucokinase enzyme activity in pancreatic beta cells (PMID:24187134)
• MIDN promotes the expression of parkin E3 ubiquitin ligase, and that MIDN loss can trigger Parkinson’s disease-related pathogenic mechanisms. (PMID:28724963)
• Midnolin is a confirmed genetic risk factor for Parkinson’s disease. (PMID:31588691)
• Structural Variants of Midnolin, a Genetic Risk Factor for Parkinson’s Disease, in a Yamagata Cohort. (PMID:36858566)
• The midnolin-proteasome pathway catches proteins for ubiquitination-independent degradation. (PMID:37616343)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	midn	ENSDARG00000018524
mus_musculus	Midn	ENSMUSG00000035621
rattus_norvegicus	Midn	ENSRNOG00000015434
drosophila_melanogaster	stx	FBGN0052676

Protein

Protein identifiers

Midnolin — Q504T8 (reviewed: Q504T8)

Alternative names: Midbrain nucleolar protein

All UniProt accessions (2): A0A804HKJ8, Q504T8

UniProt curated annotations — full annotation on UniProt →

Function. Facilitates the ubiquitin-independent proteasomal degradation of stimulus-induced transcription factors such as FOSB, EGR1, NR4A1, and IRF4 to the proteasome for degradation. Promotes also the degradation of other substrates such as CBX4. Plays a role in inhibiting the activity of glucokinase GCK and both glucose-induced and basal insulin secretion.

Subunit / interactions. Interacts with GCK; the interaction occurs preferentially at low glucose levels. Interacts with the proteasome.

Subcellular location. Nucleus. Nucleolus. Cytoplasm. Cytosol.

Domain organisation. Contains three domains that function in concert to promote proteasomal degradation of bound substrates. Contains a ubiquitin-like domain (Ubl) toward its N-terminus that is necessary to promote substrate degradation. In the middle, two domains termed Catch1 and Catch2 are necessary and sufficient to interact with unstructured regions within substrates. The long C-terminal region associates with the proteasome.

RefSeq proteins (4): NP_001375235, NP_001375236, NP_001375403, NP_796375 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000626	Ubiquitin-like_dom	Domain
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR039336	Midnolin	Family

Pfam: PF00240

UniProt features (9 total): compositionally biased region 4, region of interest 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

27 structures.

PDB	Method	Resolution (Å)
9VEH	X-RAY DIFFRACTION	2
9VE3	X-RAY DIFFRACTION	2.1
9VE7	X-RAY DIFFRACTION	2.15
8VQP	X-RAY DIFFRACTION	2.52
9VE4	X-RAY DIFFRACTION	2.55
9MBP	ELECTRON MICROSCOPY	2.75
9NKG	ELECTRON MICROSCOPY	2.8
9VE6	X-RAY DIFFRACTION	2.8
9MBO	ELECTRON MICROSCOPY	2.83
9VE8	X-RAY DIFFRACTION	2.85
9BV3	ELECTRON MICROSCOPY	2.9
9NKI	ELECTRON MICROSCOPY	2.94
21IK	X-RAY DIFFRACTION	2.99
9MBQ	ELECTRON MICROSCOPY	3.08
9BV1	ELECTRON MICROSCOPY	3.1
9VE5	X-RAY DIFFRACTION	3.2
21IE	X-RAY DIFFRACTION	3.24
21IP	X-RAY DIFFRACTION	3.3
9M2W	ELECTRON MICROSCOPY	3.31
9BV2	ELECTRON MICROSCOPY	3.4
22MM	ELECTRON MICROSCOPY	3.42
9UG9	ELECTRON MICROSCOPY	3.5
9VEA	X-RAY DIFFRACTION	3.6
9W39	ELECTRON MICROSCOPY	3.65
9BUI	ELECTRON MICROSCOPY	3.9
9WBG	ELECTRON MICROSCOPY	4.23
9UF8	ELECTRON MICROSCOPY	4.32

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q504T8-F1	66.29	0.30

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 0 (showing top):

GO Biological Process (3): proteasomal ubiquitin-independent protein catabolic process (GO:0010499), negative regulation of glucokinase activity (GO:0033132), negative regulation of insulin secretion (GO:0046676)

GO Molecular Function (3): kinase binding (GO:0019900), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), nucleolus (GO:0005730), cytoplasm (GO:0005737), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
cellular anatomical structure	2
proteasomal protein catabolic process	1
glucokinase activity	1
negative regulation of kinase activity	1
insulin secretion	1
negative regulation of protein secretion	1
regulation of insulin secretion	1
negative regulation of peptide hormone secretion	1
enzyme binding	1
molecular_function	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

368 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MIDN	UBL7	Q96S82	435
MIDN	SBNO2	Q9Y2G9	396
MIDN	LIMD2	Q9BT23	368
MIDN	DCDC2C	A8MYV0	359
MIDN	DBX2	Q6ZNG2	349
MIDN	SLC4A8	Q2Y0W8	324
MIDN	USP54	Q70EL1	320
MIDN	UBL4A	P11441	319
MIDN	COPB2	P35606	304
MIDN	PRKN	O60260	297
MIDN	UTP11	Q9Y3A2	285
MIDN	USP48	Q86UV5	283
MIDN	DLG5	Q8TDM6	272
MIDN	SLC6A20	Q9NP91	267
MIDN	TMCC1	O94876	262

IntAct

46 interactions, top by confidence:

A	B	Type	Score
PSMD2	PSMD11	psi-mi:“MI:0914”(association)	0.730
FOSB	JUN	psi-mi:“MI:0914”(association)	0.690
PSMC4	PSMD11	psi-mi:“MI:0914”(association)	0.670
KRT34	MIDN	psi-mi:“MI:0915”(physical association)	0.560
MIDN	CMTM4	psi-mi:“MI:0915”(physical association)	0.560
MIDN	PLEKHF2	psi-mi:“MI:0915”(physical association)	0.560
SYNGR3	MIDN	psi-mi:“MI:0915”(physical association)	0.560
GADD45G	MIDN	psi-mi:“MI:0914”(association)	0.550
GADD45G	MIDN	psi-mi:“MI:0915”(physical association)	0.550
ERCC6L	CHEK1	psi-mi:“MI:0914”(association)	0.530
EMILIN1	METTL15	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
PTGES3	AIP	psi-mi:“MI:0914”(association)	0.530
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
FCN1	MIDN	psi-mi:“MI:0915”(physical association)	0.370
GADD45A	MIDN	psi-mi:“MI:0915”(physical association)	0.370
MAP3K20	MIDN	psi-mi:“MI:0915”(physical association)	0.370
PSMC1	ZNF561	psi-mi:“MI:0914”(association)	0.350
NR4A1	GRK6	psi-mi:“MI:0914”(association)	0.350
EGR1	NES	psi-mi:“MI:0914”(association)	0.350
GLI2	SPOP	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
ZNF418	ZNF195	psi-mi:“MI:0914”(association)	0.350
TNNC1	MYO1B	psi-mi:“MI:0914”(association)	0.350
EGR1	NAB1	psi-mi:“MI:0914”(association)	0.350
KCTD17	PXDNL	psi-mi:“MI:0914”(association)	0.350

BioGRID (643): MIDN (Affinity Capture-MS), MIDN (Affinity Capture-MS), MIDN (Affinity Capture-MS), MIDN (Affinity Capture-MS), MIDN (Two-hybrid), MIDN (Two-hybrid), PLEKHF2 (Two-hybrid), CMTM4 (Two-hybrid), MIDN (Two-hybrid), MIDN (Two-hybrid), MIDN (Affinity Capture-RNA), MIDN (Affinity Capture-MS), MIDN (Affinity Capture-MS), MIDN (Affinity Capture-MS), MIDN (Affinity Capture-MS)

ESM2 similar proteins: A0FI79, A1A4I4, A1A5B6, A4D2P6, A6H7I8, F1LXF1, O60346, P11274, P53349, P59672, P70268, Q0QWG9, Q13905, Q3MII6, Q3U0J8, Q504T8, Q50H33, Q5EBH1, Q62865, Q63433, Q69ZT9, Q6NS60, Q6PAJ1, Q6WVG3, Q6ZWB6, Q7Z5H3, Q8BL80, Q8BUP8, Q8BYH7, Q8C190, Q8CGA2, Q8CHE4, Q8N2R8, Q8R554, Q8TE49, Q8TF61, Q8WUA7, Q92625, Q95KI1, Q96CX2

Diamond homologs: B0KWT6, B1MTV8, B7NZQ9, D4AE48, P11441, Q3TPJ7, Q504T8, Q5EB28, Q5R4T1, Q6NYU6, Q7ZWN4, Q7ZWX9, Q8SXD4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 46 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
Regulation of activated PAK-2p34 by proteasome mediated degradation	5	46.4×	1e-06
SPOP-mediated proteasomal degradation of PD-L1(CD274)	6	45.7×	2e-07
Regulation of ornithine decarboxylase (ODC)	5	45.3×	1e-06
Degradation of GLI2 by the proteasome	6	44.8×	2e-07
Vpu mediated degradation of CD4	5	44.3×	1e-06
Autodegradation of the E3 ubiquitin ligase COP1	5	44.3×	1e-06
Ubiquitin-dependent degradation of Cyclin D	5	44.3×	1e-06
Cross-presentation of soluble exogenous antigens (endosomes)	5	42.3×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
proteasome-mediated ubiquitin-dependent protein catabolic process	8	9.7×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	112
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1266 predictions. Top by Δscore:

Variant	Effect	Δscore
19:1248656:GCCCG:G	donor_gain	1.0000
19:1248659:CGG:C	donor_loss	1.0000
19:1248660:GGTG:G	donor_loss	1.0000
19:1248662:T:G	donor_loss	1.0000
19:1249882:A:AG	acceptor_gain	1.0000
19:1249883:C:G	acceptor_gain	1.0000
19:1250525:GACAC:G	donor_gain	1.0000
19:1250528:AC:A	donor_gain	1.0000
19:1250530:G:GG	donor_gain	1.0000
19:1251560:A:AG	acceptor_gain	1.0000
19:1251560:AGCC:A	acceptor_gain	1.0000
19:1251560:AGCCG:A	acceptor_gain	1.0000
19:1251561:G:GA	acceptor_gain	1.0000
19:1251561:GCC:G	acceptor_gain	1.0000
19:1251561:GCCG:G	acceptor_gain	1.0000
19:1251561:GCCGG:G	acceptor_gain	1.0000
19:1251834:T:TA	acceptor_gain	1.0000
19:1251834:TGTA:T	acceptor_loss	1.0000
19:1251837:A:AG	acceptor_gain	1.0000
19:1251838:G:GT	acceptor_gain	1.0000
19:1251838:GT:G	acceptor_gain	1.0000
19:1251838:GTCT:G	acceptor_gain	1.0000
19:1251838:GTCTC:G	acceptor_gain	1.0000
19:1251898:GCAG:G	donor_gain	1.0000
19:1251899:CAGG:C	donor_loss	1.0000
19:1251900:AGGTA:A	donor_loss	1.0000
19:1251902:G:GG	donor_gain	1.0000
19:1251902:GTA:G	donor_loss	1.0000
19:1251903:T:A	donor_loss	1.0000
19:1254162:TGCA:T	acceptor_loss	1.0000

AlphaMissense

3263 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:1250400:T:A	I35N	1.000
19:1250463:T:C	L56P	1.000
19:1250514:T:A	L73H	1.000
19:1250517:T:C	L74P	1.000
19:1251567:T:A	L80H	1.000
19:1251615:T:C	L96P	1.000
19:1251621:T:C	L98S	1.000
19:1251627:C:A	P100H	1.000
19:1251875:G:C	A120P	1.000
19:1251879:T:A	L121H	1.000
19:1251879:T:C	L121P	1.000
19:1251879:T:G	L121R	1.000
19:1251888:T:A	L124H	1.000
19:1251888:T:C	L124P	1.000
19:1254174:A:T	D131V	1.000
19:1254176:T:A	F132I	1.000
19:1254176:T:C	F132L	1.000
19:1254176:T:G	F132V	1.000
19:1254177:T:C	F132S	1.000
19:1254177:T:G	F132C	1.000
19:1254178:C:A	F132L	1.000
19:1254178:C:G	F132L	1.000
19:1254180:T:A	L133Q	1.000
19:1254180:T:C	L133P	1.000
19:1254185:G:C	G135R	1.000
19:1254186:G:A	G135D	1.000
19:1254186:G:T	G135V	1.000
19:1254198:T:A	L139Q	1.000
19:1254198:T:C	L139P	1.000
19:1254198:T:G	L139R	1.000

dbSNP variants (sampled 300 via entrez): RS1000001508 (19:1248017 C>A,T), RS1000010342 (19:1249524 C>A), RS1000071729 (19:1253129 C>A,T), RS1000249863 (19:1257330 C>T), RS1000349535 (19:1258196 G>A), RS1000376514 (19:1254027 G>A), RS1000392030 (19:1251113 G>T), RS1000518474 (19:1252419 G>A), RS1000700094 (19:1251201 C>T), RS1000782970 (19:1249768 G>A), RS1000803021 (19:1257704 C>A,G,T), RS1000853879 (19:1256554 C>T), RS1000899036 (19:1249599 G>T), RS1001151730 (19:1257803 C>T), RS1001278298 (19:1249048 C>G)

Disease associations

OMIM: gene MIM:606700 | 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

6 associations (top):

Study	Trait	p-value
GCST90002383_93	Hematocrit	3.000000e-10
GCST90002384_441	Hemoglobin	3.000000e-10
GCST90002390_509	Mean corpuscular hemoglobin	2.000000e-12
GCST90002392_48	Mean corpuscular volume	2.000000e-09
GCST90002397_395	Mean spheric corpuscular volume	5.000000e-14
GCST90002403_342	Red blood cell count	1.000000e-15

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0004527	mean corpuscular hemoglobin
EFO:0004305	erythrocyte count

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 cotreatment, decreases expression, affects expression, increases methylation	5
(+)-JQ1 compound	increases expression, decreases expression	3
bisphenol A	increases expression	2
trichostatin A	affects cotreatment, decreases expression	2
sodium arsenite	increases expression	2
Acetaminophen	increases expression	2
Air Pollutants	affects expression, increases abundance, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Cadmium Chloride	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
dicrotophos	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
kojic acid	decreases expression	1
methylparaben	increases expression	1
cupric chloride	increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	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)	increases expression	1
MT19c compound	decreases expression	1
Vorinostat	decreases expression	1
Arbutin	decreases expression	1
Arsenic	decreases expression	1
Cisplatin	decreases expression	1
Copper	affects binding, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_D7V2	Ubigene A-549 MIDN KO	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