ELMOD2

Summary

ELMOD2 (ELMO domain containing 2, HGNC:28111) is a protein-coding gene on chromosome 4q31.1, encoding ELMO domain-containing protein 2 (Q8IZ81). Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family.

This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis.

Source: NCBI Gene 255520 — RefSeq curated summary.

At a glance

• Gene–disease (curated): idiopathic pulmonary fibrosis (No Known Disease Relationship, ClinGen)
• GWAS associations: 5
• Clinical variants (ClinVar): 61 total
• MANE Select transcript: NM_153702

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28111
Approved symbol	ELMOD2
Name	ELMO domain containing 2
Location	4q31.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC10084
Ensembl gene	ENSG00000179387
Ensembl biotype	protein_coding
OMIM	610196
Entrez	255520

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 15 protein_coding, 3 retained_intron

ENST00000323570, ENST00000502290, ENST00000502397, ENST00000503541, ENST00000507667, ENST00000511887, ENST00000512057, ENST00000513606, ENST00000899906, ENST00000899907, ENST00000899908, ENST00000899909, ENST00000917822, ENST00000917823, ENST00000917824, ENST00000954137, ENST00000954138, ENST00000954139

RefSeq mRNA: 1 — MANE Select: NM_153702 NM_153702

CCDS: CCDS3752

Canonical transcript exons

ENST00000323570 — 9 exons

Exon	Start	End
ENSE00001226159	140524168	140524280
ENSE00001409185	140550230	140553770
ENSE00003505575	140527466	140527494
ENSE00003512722	140535733	140535830
ENSE00003538122	140542574	140542642
ENSE00003544513	140540168	140540301
ENSE00003551448	140543453	140543586
ENSE00003564628	140537412	140537541
ENSE00003705067	140525420	140525570

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 94.96.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.9805 / max 409.9086, expressed in 1808 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49798	12.2382	1777
49799	6.4415	1666
49800	1.3009	830

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	94.96	gold quality
calcaneal tendon	UBERON:0003701	93.44	gold quality
ileal mucosa	UBERON:0000331	92.35	gold quality
renal medulla	UBERON:0000362	92.34	gold quality
lateral nuclear group of thalamus	UBERON:0002736	92.30	gold quality
dorsal root ganglion	UBERON:0000044	92.05	gold quality
cardia of stomach	UBERON:0001162	91.85	gold quality
trigeminal ganglion	UBERON:0001675	91.68	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.32	gold quality
jejunal mucosa	UBERON:0000399	91.31	gold quality
nasal cavity epithelium	UBERON:0005384	90.83	gold quality
lateral globus pallidus	UBERON:0002476	90.81	gold quality
vena cava	UBERON:0004087	90.73	silver quality
kidney epithelium	UBERON:0004819	90.57	silver quality
superior surface of tongue	UBERON:0007371	90.13	gold quality
corpus callosum	UBERON:0002336	89.98	gold quality
epithelial cell of pancreas	CL:0000083	89.88	silver quality
pylorus	UBERON:0001166	89.82	gold quality
saphenous vein	UBERON:0007318	89.78	gold quality
dorsal plus ventral thalamus	UBERON:0001897	89.70	gold quality
oviduct epithelium	UBERON:0004804	89.51	gold quality
upper arm skin	UBERON:0004263	89.31	gold quality
jejunum	UBERON:0002115	89.18	gold quality
islet of Langerhans	UBERON:0000006	89.11	gold quality
pharyngeal mucosa	UBERON:0000355	89.10	gold quality
subthalamic nucleus	UBERON:0001906	88.95	gold quality
substantia nigra pars compacta	UBERON:0001965	88.68	gold quality
medulla oblongata	UBERON:0001896	88.43	gold quality
tendon	UBERON:0000043	88.36	gold quality
tongue	UBERON:0001723	88.32	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.98

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

213 targeting ELMOD2, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-499A-5P	99.98	70.79	1323

Literature-anchored findings (GeneRIF, showing 5)

• results suggest ELMOD2 as a novel candidate gene for susceptibility in familial idiopathic pulmonary fibrosis (PMID:16773575)
• Results describe the purification from bovine testis of an Arl2 GAP and its identity as ELMOD2, a protein with no previously described function. (PMID:17452337)
• TLR3 pathway is dependent on ELMOD2 (PMID:19966137)
• The non-opioid sigma-1 receptor (S1R) was identified as a novel effector of GAP activity of ELMOD1-3 proteins as its direct binding to either ELMOD1 or ELMOD2 resulted in loss of GAP activity. (PMID:24616099)
• Results suggest that ELMOD2 is functioning as an effector downstream of ARL2 and upstream of the mitofusins to promote mitochondrial fusion. Data provide insights into the pathway by which mitochondrial fusion is regulated in the cell. (PMID:30865555)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	elmod2	ENSDARG00000101669
mus_musculus	Elmod2	ENSMUSG00000035151
rattus_norvegicus	Elmod2	ENSRNOG00000011225
rattus_norvegicus	Elmod2	ENSRNOG00000028176
drosophila_melanogaster	CG10068	FBGN0037473

Paralogs (5): ELMO2 (ENSG00000062598), ELMO3 (ENSG00000102890), ELMOD1 (ENSG00000110675), ELMOD3 (ENSG00000115459), ELMO1 (ENSG00000155849)

Protein

Protein identifiers

ELMO domain-containing protein 2 — Q8IZ81 (reviewed: Q8IZ81)

All UniProt accessions (5): Q8IZ81, D6RBS5, D6RHX2, D6RJB5, V9GY58

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. Regulates IFN-related antiviral responses.

Tissue specificity. Alveolar cells (morphologically type II cells) and alveolar macrophages (at protein level). Expressed in brain, colon, heart, kidney, liver, lung, muscle, placenta, small intestine, spleen, stomach and testis. In lung it is expressed in alveolar macrophages and alveolar walls.

RefSeq proteins (1): NP_714913* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006816	ELMO_dom	Domain
IPR050868	ELMO_domain-containing	Family

Pfam: PF04727

UniProt features (2 total): chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IZ81-F1	94.39	0.88

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 150 (showing top): GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, DOUGLAS_BMI1_TARGETS_DN, GOBP_DEFENSE_RESPONSE_TO_VIRUS, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOBP_REGULATION_OF_RESPONSE_TO_BIOTIC_STIMULUS, GOBP_REGULATION_OF_DEFENSE_RESPONSE, TTTGCAC_MIR19A_MIR19B, GOBP_RESPONSE_TO_VIRUS, NUYTTEN_NIPP1_TARGETS_DN, GOMF_ENZYME_ACTIVATOR_ACTIVITY, GOMF_NUCLEOSIDE_TRIPHOSPHATASE_REGULATOR_ACTIVITY, GOMF_ENZYME_REGULATOR_ACTIVITY

GO Biological Process (2): regulation of defense response to virus (GO:0050688), defense response to virus (GO:0051607)

GO Molecular Function (1): GTPase activator activity (GO:0005096)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of response to biotic stimulus	1
regulation of defense response	1
regulation of response to external stimulus	1
defense response to virus	1
defense response	1
response to virus	1
GTPase activity	1
enzyme activator activity	1
GTPase regulator activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

632 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELMOD2	X6REF7	X6REF7	793
ELMOD2	ARL2	P36404	653
ELMOD2	SFTPA2	P07714	651
ELMOD2	ARL3	P36405	644
ELMOD2	SFTPC	P11686	616
ELMOD2	TERT	O14746	575
ELMOD2	TBC1D9	Q6ZT07	559
ELMOD2	MTUS1	Q9ULD2	554
ELMOD2	RASA1	P20936	553
ELMOD2	PMFBP1	Q8TBY8	538
ELMOD2	SPATA4	Q8NEY3	531
ELMOD2	ELMO2	Q96JJ3	517
ELMOD2	SIGMAR1	Q99720	510
ELMOD2	ELMO1	Q92556	507
ELMOD2	PTGFR	P43088	494

IntAct

13 interactions, top by confidence:

A	B	Type	Score
ELMOD2	HOXC4	psi-mi:“MI:0915”(physical association)	0.370
NEK4	E2F8	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CLRN2	FAM234B	psi-mi:“MI:0914”(association)	0.350
APOA2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
MFSD14A	FAM171A2	psi-mi:“MI:0914”(association)	0.350
CFTR	UBA6	psi-mi:“MI:2364”(proximity)	0.270
MAPT	PITPNM1	psi-mi:“MI:2364”(proximity)	0.270
MAPT	DCTN6	psi-mi:“MI:2364”(proximity)	0.270
MAPT		psi-mi:“MI:2364”(proximity)	0.270
ftsB	ELMOD2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (23): ELMOD2 (Affinity Capture-MS), ELMOD2 (Reconstituted Complex), ELMOD2 (Affinity Capture-Western), ELMOD2 (Co-fractionation), ELMOD2 (Proximity Label-MS), ELMOD2 (Proximity Label-MS), ELMOD2 (Affinity Capture-MS), ELMOD2 (Affinity Capture-RNA), ELMOD2 (Affinity Capture-MS), ELMOD2 (Affinity Capture-MS), ELMOD2 (Proximity Label-MS), ELMOD2 (Proximity Label-MS), ELMOD2 (Affinity Capture-MS), ELMOD2 (Proximity Label-MS), ELMOD2 (Proximity Label-MS)

ESM2 similar proteins: A5PJN2, B1H1F9, B4URD6, B6CVD7, O18823, O43556, O43909, O56140, O70258, P0C152, P28039, P97259, Q01H84, Q08834, Q09328, Q28F39, Q29S03, Q2F4V2, Q4R5B1, Q5HYA8, Q5RAP2, Q6AXF6, Q6DD71, Q6DPZ9, Q6DQ19, Q6DQ21, Q6J8E7, Q6YAT4, Q7SEY9, Q7T3D1, Q7X9I4, Q7YTU4, Q86YB8, Q8BR76, Q8IZ81, Q8NBP0, Q8QPL1, Q8R180, Q8R2E9, Q8R3N6

Diamond homologs: Q08DZ3, Q09292, Q0IIE6, Q3V1U8, Q54RS7, Q54UP9, Q54VR8, Q54YW1, Q5NVD7, Q5XIQ2, Q8BGF6, Q8IZ81, Q8N336, Q91YP6, Q58DT5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	38
Likely benign	4
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

1830 predictions. Top by Δscore:

Variant	Effect	Δscore
4:140524193:G:GT	donor_gain	1.0000
4:140525509:G:GT	donor_gain	1.0000
4:140525509:G:T	donor_gain	1.0000
4:140525566:GA:G	donor_gain	1.0000
4:140537410:A:AG	acceptor_gain	1.0000
4:140537411:G:GG	acceptor_gain	1.0000
4:140537411:GTTTT:G	acceptor_gain	1.0000
4:140540300:GT:G	donor_gain	1.0000
4:140540302:G:GG	donor_gain	1.0000
4:140542641:GG:G	donor_gain	1.0000
4:140542642:GG:G	donor_gain	1.0000
4:140550350:AT:A	donor_gain	1.0000
4:140524276:G:GG	donor_gain	0.9900
4:140524692:G:GT	donor_gain	0.9900
4:140524711:GTTTT:G	donor_gain	0.9900
4:140524712:TTTTT:T	donor_gain	0.9900
4:140524715:T:TG	donor_gain	0.9900
4:140525543:G:GG	donor_gain	0.9900
4:140525567:A:G	donor_gain	0.9900
4:140526669:T:TG	donor_gain	0.9900
4:140535730:TA:T	acceptor_loss	0.9900
4:140535732:G:GC	acceptor_loss	0.9900
4:140535823:G:GT	donor_gain	0.9900
4:140535831:GT:G	donor_gain	0.9900
4:140538045:A:T	donor_gain	0.9900
4:140542639:TAGGG:T	donor_loss	0.9900
4:140542640:AGGG:A	donor_loss	0.9900
4:140542642:GGTA:G	donor_loss	0.9900
4:140542643:G:GG	donor_gain	0.9900
4:140542643:G:T	donor_loss	0.9900

AlphaMissense

1978 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:140540222:T:A	W152R	1.000
4:140540222:T:C	W152R	1.000
4:140540237:T:C	F157L	1.000
4:140540238:T:C	F157S	1.000
4:140540239:T:A	F157L	1.000
4:140540239:T:G	F157L	1.000
4:140540224:G:C	W152C	0.999
4:140540224:G:T	W152C	0.999
4:140540242:G:C	Q158H	0.999
4:140540242:G:T	Q158H	0.999
4:140540252:C:T	P162S	0.999
4:140540253:C:A	P162H	0.999
4:140540261:G:C	D165H	0.999
4:140540262:A:G	D165G	0.999
4:140540262:A:T	D165V	0.999
4:140540263:C:A	D165E	0.999
4:140540263:C:G	D165E	0.999
4:140540268:G:C	R167T	0.999
4:140540268:G:T	R167I	0.999
4:140540285:G:T	G173W	0.999
4:140543482:T:C	L211P	0.999
4:140550292:T:C	F267L	0.999
4:140550294:C:A	F267L	0.999
4:140550294:C:G	F267L	0.999
4:140540234:G:C	G156R	0.998
4:140540235:G:A	G156D	0.998
4:140540237:T:G	F157V	0.998
4:140540238:T:G	F157C	0.998
4:140540262:A:C	D165A	0.998
4:140540265:T:C	F166S	0.998

dbSNP variants (sampled 300 via entrez): RS1000210654 (4:140528291 A>G), RS1000256134 (4:140550242 A>G,T), RS1000328295 (4:140536670 A>G), RS1000571899 (4:140549670 A>C,G), RS1000606678 (4:140550550 T>C), RS1000785508 (4:140530911 AGTT>A), RS1001115027 (4:140542928 A>G), RS1001172378 (4:140544916 A>G), RS1001266947 (4:140551496 G>A), RS1001319922 (4:140537958 G>T), RS1001395452 (4:140541888 C>G), RS1001445755 (4:140544642 T>C), RS1001446368 (4:140541551 A>G), RS1001511162 (4:140529163 C>G), RS1001660547 (4:140531057 C>A)

Disease associations

OMIM: gene MIM:610196 | disease phenotypes:

GenCC curated gene-disease

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
idiopathic pulmonary fibrosis	No Known Disease Relationship	UD

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000083_5	Select biomarker traits	1.000000e-06
GCST007470_9	Rapid automatized naming of letters	5.000000e-07
GCST010725_4	Malaria	4.000000e-10
GCST010725_84	Malaria	7.000000e-11
GCST010725_89	Malaria	7.000000e-11

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004570	bilirubin measurement
EFO:0005301	reading and spelling ability

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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases mutagenesis, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
bisphenol A	affects cotreatment, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases 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, increases expression	1
ICG 001	increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Acetaminophen	decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Dinitrochlorobenzene	affects binding	1
Indomethacin	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lead	affects expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Rotenone	increases expression	1
Testosterone	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	decreases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, 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