ZNF174

gene
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Also known as ZSCAN8

Summary

ZNF174 (zinc finger protein 174, HGNC:12963) is a protein-coding gene on chromosome 16p13.3, encoding Zinc finger protein 174 (Q15697). Transcriptional repressor.

This gene encodes a protein with three Cys2-His2-type zinc fingers in the carboxy-terminus, a putative nuclear localization signal, and an amino-terminus SCAN box which forms homodimers. This protein is believed to function as a transcriptional repressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 7727 — RefSeq curated summary.

At a glance

  • Clinical variants (ClinVar): 69 total
  • MANE Select transcript: NM_003450

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:12963
Approved symbolZNF174
Namezinc finger protein 174
Location16p13.3
Locus typegene with protein product
StatusApproved
AliasesZSCAN8
Ensembl geneENSG00000103343
Ensembl biotypeprotein_coding
OMIM603900
Entrez7727

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000268655, ENST00000344823, ENST00000571936, ENST00000572544, ENST00000575752, ENST00000959344

RefSeq mRNA: 5 — MANE Select: NM_003450 NM_001032292, NM_001347868, NM_001347869, NM_001347870, NM_003450

CCDS: CCDS10504, CCDS32380, CCDS86501

Canonical transcript exons

ENST00000268655 — 3 exons

ExonStartEnd
ENSE0000066689934083213409364
ENSE0000183820234012153402406
ENSE0000348819334044263404648

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 90.30.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.1362 / max 54.2742, expressed in 1756 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
15242310.13621756

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
endothelial cellCL:000011590.30gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047388.85gold quality
apex of heartUBERON:000209882.66gold quality
cortical plateUBERON:000534380.78gold quality
gastrocnemiusUBERON:000138880.59gold quality
muscle of legUBERON:000138380.25gold quality
muscle layer of sigmoid colonUBERON:003580580.23gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099180.14gold quality
popliteal arteryUBERON:000225080.07gold quality
tibial arteryUBERON:000761080.05gold quality
right uterine tubeUBERON:000130279.98gold quality
lower esophagus muscularis layerUBERON:003583379.91gold quality
lower esophagusUBERON:001347379.89gold quality
right coronary arteryUBERON:000162579.68gold quality
heart left ventricleUBERON:000208479.43gold quality
aortaUBERON:000094779.31gold quality
esophagogastric junction muscularis propriaUBERON:003584179.21gold quality
granulocyteCL:000009479.03gold quality
islet of LangerhansUBERON:000000679.02gold quality
descending thoracic aortaUBERON:000234578.96gold quality
cardiac ventricleUBERON:000208278.89gold quality
hindlimb stylopod muscleUBERON:000425278.89gold quality
thoracic aortaUBERON:000151578.84gold quality
body of uterusUBERON:000985378.78gold quality
cervix squamous epitheliumUBERON:000692278.74silver quality
ascending aortaUBERON:000149678.72gold quality
left coronary arteryUBERON:000162678.65gold quality
right atrium auricular regionUBERON:000663178.60gold quality
ventricular zoneUBERON:000305378.45gold quality
right adrenal gland cortexUBERON:003582778.40gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

ExperimentMarker?Max mean expression
E-ANND-3no2.10

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

2 targets.

TargetRegulation
PDGFB
TGFB1Repression

miRNA regulators (miRDB)

28 targeting ZNF174, 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-5011-5P100.0083.465820
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-6817-3P99.7968.352126
HSA-MIR-442299.7272.072908
HSA-MIR-10394-5P99.6566.831852
HSA-MIR-120599.6566.761826
HSA-MIR-570099.6469.882280
HSA-MIR-432899.5771.064094
HSA-MIR-3120-3P99.5470.282669
HSA-MIR-377-3P99.3770.181905
HSA-MIR-3160-5P99.2869.071938
HSA-MIR-807099.0769.301303
HSA-MIR-92299.0267.231838
HSA-MIR-474499.0169.911581
HSA-MIR-3124-3P98.8768.952123
HSA-MIR-502-5P98.7766.51906
HSA-MIR-188-5P97.8967.01756
HSA-MIR-3620-3P97.7864.88772
HSA-MIR-6866-3P97.3866.94748
HSA-MIR-428897.1167.231636
HSA-MIR-339-5P96.7366.01820
HSA-MIR-6847-3P96.5067.30582
HSA-MIR-4774-5P95.9268.27827
HSA-MIR-123195.1065.63663
HSA-MIR-877-5P94.6266.30710

Literature-anchored findings (GeneRIF, showing 1)

  • Both size exclusion chromatography and equilibrium sedimentation analysis demonstrate that the ZNF174 SCAN domain forms a homodimer (PMID:11741982)

Cross-species orthologs

11 orthologs

OrganismSymbolGene ID
danio_rerioplagxENSDARG00000036855
danio_rerioovol1aENSDARG00000076472
danio_rerioplagl2ENSDARG00000076657
danio_rerioovol1bENSDARG00000078256
mus_musculusZfp174ENSMUSG00000054939
rattus_norvegicusZfp174ENSRNOG00000007655
drosophila_melanogasterhbFBGN0001180
drosophila_melanogasterCG12391FBGN0033581
caenorhabditis_elegansWBGENE00001824
caenorhabditis_elegansWBGENE00003033
caenorhabditis_elegansWBGENE00012385

Paralogs (29): ZNF446 (ENSG00000083838), REST (ENSG00000084093), OVOL3 (ENSG00000105261), PLAGL1 (ENSG00000118495), ZSCAN18 (ENSG00000121413), ZNF576 (ENSG00000124444), OVOL2 (ENSG00000125850), PLAGL2 (ENSG00000126003), ZSCAN5A (ENSG00000131848), ZSCAN29 (ENSG00000140265), ZSCAN32 (ENSG00000140987), ZSCAN1 (ENSG00000152467), ZNF18 (ENSG00000154957), ZKSCAN2 (ENSG00000155592), ZNF496 (ENSG00000162714), ZNF202 (ENSG00000166261), ZNF641 (ENSG00000167528), ZNF444 (ENSG00000167685), SCAND1 (ENSG00000171222), ZNF274 (ENSG00000171606), ZNF131 (ENSG00000172262), OVOL1 (ENSG00000172818), ZNF518A (ENSG00000177853), ZNF518B (ENSG00000178163), PLAG1 (ENSG00000181690), ZSCAN5B (ENSG00000197213), ZNF770 (ENSG00000198146), PEG3 (ENSG00000198300), ZSCAN5C (ENSG00000204532)

Protein

Protein identifiers

Zinc finger protein 174Q15697 (reviewed: Q15697)

Alternative names: AW-1, Zinc finger and SCAN domain-containing protein 8

All UniProt accessions (2): Q15697, I3L2H2

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional repressor.

Subunit / interactions. Homodimer.

Subcellular location. Nucleus.

Tissue specificity. Expressed in a variety of organs, but most strongly in adult testis and ovary followed by small intestine, colon, prostate, thymus, spleen, pancreas, skeletal muscle, heart, brain and kidney. Also expressed in umbilical vein endothelial cells, foreskin fibroblast and Hep-G2 cells.

Similarity. Belongs to the krueppel C2H2-type zinc-finger protein family.

Isoforms (2)

UniProt IDNamesCanonical?
Q15697-11yes
Q15697-22

RefSeq proteins (5): NP_001027463, NP_001334797, NP_001334798, NP_001334799, NP_003441* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003309SCAN_domDomain
IPR013087Znf_C2H2_typeDomain
IPR036236Znf_C2H2_sfHomologous_superfamily
IPR038269SCAN_sfHomologous_superfamily
IPR050916SCAN-C2H2_zinc_fingerFamily

Pfam: PF00096, PF02023

UniProt features (20 total): helix 5, cross-link 4, zinc finger region 3, splice variant 2, region of interest 2, chain 1, domain 1, strand 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDBMethodResolution (Å)
1Y7QSOLUTION NMR

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q15697-F160.620.01

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): 230, 271, 26, 204

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 62 (showing top): BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, CCCNNNNNNAAGWT_UNKNOWN, AACTTT_UNKNOWN, DANG_BOUND_BY_MYC, GOCC_NUCLEAR_BODY, GOCC_NUCLEOLUS, BENPORATH_MYC_MAX_TARGETS, KRIGE_RESPONSE_TO_TOSEDOSTAT_24HR_UP, GOMF_PROTEIN_DIMERIZATION_ACTIVITY, GOMF_PROTEIN_HOMODIMERIZATION_ACTIVITY, LIU_NASOPHARYNGEAL_CARCINOMA, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_TURQUOISE_DN, FIGUEROA_AML_METHYLATION_CLUSTER_6_UP, FIGUEROA_AML_METHYLATION_CLUSTER_7_UP

GO Biological Process (3): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (11): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription factor activity (GO:0003700), zinc ion binding (GO:0008270), protein homodimerization activity (GO:0042803), sequence-specific DNA binding (GO:0043565), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): chromatin (GO:0000785), fibrillar center (GO:0001650), nucleus (GO:0005634), nuclear body (GO:0016604)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
regulation of DNA-templated transcription3
regulation of transcription by RNA polymerase II2
transcription by RNA polymerase II2
RNA polymerase II transcription regulatory region sequence-specific DNA binding2
cellular anatomical structure2
negative regulation of DNA-templated transcription1
DNA-templated transcription1
negative regulation of RNA biosynthetic process1
transcription regulatory region nucleic acid binding1
sequence-specific double-stranded DNA binding1
cis-regulatory region sequence-specific DNA binding1
chromatin1
DNA-binding transcription factor activity1
transcription cis-regulatory region binding1
transcription regulator activity1
transition metal ion binding1
identical protein binding1
protein dimerization activity1
DNA binding1
double-stranded DNA binding1
sequence-specific DNA binding1
nucleic acid binding1
binding1
cation binding1
chromosome1
nucleolus1
intracellular membrane-bounded organelle1
nucleoplasm1
intracellular membraneless organelle1

Protein interactions and networks

STRING

670 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ZNF174GPKOWQ92917727
ZNF174MZF1P28698463
ZNF174ZSCAN1Q8NBB4463
ZNF174ZNF202O95125440
ZNF174MEFVO15553425
ZNF174ZSCAN2Q7Z7L9423
ZNF174CSF1P09603390
ZNF174PDGFBP01127387
ZNF174D6RC18D6RC18355
ZNF174ANGEL2Q5VTE6327
ZNF174ISY1Q9ULR0322
ZNF174IGF2P01344321
ZNF174K7ESF6K7ESF6309
ZNF174NBPF3Q9H094305
ZNF174ZNF205O95201300

IntAct

28 interactions, top by confidence:

ABTypeScore
ZNF397ZNF213psi-mi:“MI:0914”(association)0.640
ZNF174ZSCAN32psi-mi:“MI:0915”(physical association)0.550
ZSCAN32ZNF197psi-mi:“MI:0914”(association)0.530
ZNF483ZNF197psi-mi:“MI:0914”(association)0.530
PGBD1ZNF213psi-mi:“MI:0914”(association)0.530
ZKSCAN4ZNF213psi-mi:“MI:0914”(association)0.530
ZNF18ZMYM6psi-mi:“MI:0914”(association)0.530
ZNF396ZNF24psi-mi:“MI:0914”(association)0.530
ZNF213ZNF24psi-mi:“MI:0914”(association)0.530
TPD52TPD52L2psi-mi:“MI:0914”(association)0.530
ZNF174CDK6psi-mi:“MI:0217”(phosphorylation reaction)0.440
ZNF174ZNF174psi-mi:“MI:0915”(physical association)0.370
ZNF174FAM171A2psi-mi:“MI:0914”(association)0.350
ZNF232ZNF197psi-mi:“MI:0914”(association)0.350
ZSCAN1ZNF213psi-mi:“MI:0914”(association)0.350
ZSCAN23ZNF263psi-mi:“MI:0914”(association)0.350
ZSCAN21IPO8psi-mi:“MI:0914”(association)0.350
ZNF174EIF3Jpsi-mi:“MI:0914”(association)0.350
TGIF2ZNF213psi-mi:“MI:0914”(association)0.350
H2BC10SMCHD1psi-mi:“MI:2364”(proximity)0.270
CDC14BPES1psi-mi:“MI:2364”(proximity)0.270
ZMYM2ZBTB5psi-mi:“MI:2364”(proximity)0.270
ZMYM2TRIM24psi-mi:“MI:2364”(proximity)0.270
ZMYM3TAF4psi-mi:“MI:2364”(proximity)0.270
SUMO1CHD2psi-mi:“MI:0914”(association)0.000

BioGRID (97): ZNF174 (Affinity Capture-RNA), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Proximity Label-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Two-hybrid), ZNF174 (Proximity Label-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS), ZNF174 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WVF3, A0A087WXS9, A0A087X179, A0A087X1G2, A6NDS4, A6NER0, A6QPT6, B9A6J9, M3WHG5, O14771, O15482, O15553, O19110, O76081, P0C7X1, P0C7X3, P0C7X4, P35125, P48778, P48967, P79209, Q13670, Q15697, Q2TBC4, Q3T191, Q3UZD7, Q4R2Z8, Q5DRQ5, Q5SSQ6, Q5XFX8, Q69ZB3, Q6DHY5, Q6IPX1, Q6ZMN8, Q8BLR5, Q8BWA8, Q8IYF1, Q8IZP1, Q8JZW5, Q8N7G0

Diamond homologs: A1YEP8, A1YEQ3, A1YEV9, A1YFW2, A1YFW6, A1YG26, A1YG48, A1YG60, A1YGJ4, A1YGK6, A2T6E3, A2T6V8, A2T6W2, A2T712, A2T736, A2T7D2, A2T7D7, A2T7F2, A2T7F4, A2T7L7, A2T812, A6QNZ0, A6QPT6, B2KFW1, O14709, O14771, O14978, O15535, O43309, O60304, O95125, P10073, P17022, P17028, P17029, P17040, P28698, P49910, P51815, P59923

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance61
Likely benign3
Benign0

Top pathogenic / likely-pathogenic (0)

SpliceAI

384 predictions. Top by Δscore:

VariantEffectΔscore
16:3402403:GTGG:Gdonor_gain1.0000
16:3402400:GCA:Gdonor_gain0.9900
16:3402402:AGTGG:Adonor_loss0.9900
16:3402405:GGGT:Gdonor_loss0.9900
16:3402406:GGTAA:Gdonor_loss0.9900
16:3402407:G:GGdonor_gain0.9900
16:3402408:T:Adonor_loss0.9900
16:3404970:GC:Gdonor_gain0.9900
16:3404971:C:Gdonor_gain0.9900
16:3402404:TGG:Tdonor_gain0.9800
16:3402405:GG:Gdonor_gain0.9800
16:3402405:GGG:Gdonor_gain0.9800
16:3402406:GG:Gdonor_gain0.9800
16:3404965:C:Gdonor_gain0.9800
16:3402412:G:GTdonor_gain0.9700
16:3402413:A:Tdonor_gain0.9700
16:3408320:GA:Gacceptor_gain0.9600
16:3408319:A:AGacceptor_gain0.9500
16:3408320:G:GGacceptor_gain0.9500
16:3404423:TAG:Tacceptor_loss0.9400
16:3404424:A:Cacceptor_loss0.9400
16:3404425:G:GTacceptor_loss0.9400
16:3402402:A:AGdonor_gain0.9200
16:3402409:AAG:Adonor_loss0.9100
16:3402368:G:GTdonor_gain0.9000
16:3402403:GTGGG:Gdonor_gain0.8900
16:3402404:TGGGT:Tdonor_gain0.8900
16:3402406:G:Adonor_gain0.8900
16:3404644:GACAG:Gdonor_loss0.8900
16:3404645:ACAG:Adonor_loss0.8900

AlphaMissense

2673 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:3408698:T:CF335L1.000
16:3408700:C:AF335L1.000
16:3408700:C:GF335L1.000
16:3408782:T:CF363L0.999
16:3408784:T:AF363L0.999
16:3408784:T:GF363L0.999
16:3408866:T:CF391L0.999
16:3408868:T:AF391L0.999
16:3408868:T:GF391L0.999
16:3408699:T:CF335S0.998
16:3408725:C:GH344D0.998
16:3408809:C:GH372D0.997
16:3408823:C:AH376Q0.997
16:3408823:C:GH376Q0.997
16:3408867:T:CF391S0.997
16:3408677:T:CC328R0.996
16:3408717:T:CL341P0.996
16:3408727:C:AH344Q0.996
16:3408727:C:GH344Q0.996
16:3408739:C:AH348Q0.996
16:3408739:C:GH348Q0.996
16:3408783:T:CF363S0.996
16:3408801:T:CL369P0.996
16:3408811:C:AH372Q0.996
16:3408811:C:GH372Q0.996
16:3408821:C:GH376D0.996
16:3408686:T:AC331S0.995
16:3408686:T:CC331R0.995
16:3408687:G:CC331S0.995
16:3408688:T:GC331W0.995

dbSNP variants (sampled 300 via entrez): RS1000169149 (16:3404517 C>T), RS1000540005 (16:3407024 C>A,T), RS1000541786 (16:3405548 A>G), RS1000553807 (16:3400130 A>G,T), RS1000688036 (16:3400359 C>A), RS1001494711 (16:3399634 T>C), RS1001775615 (16:3404621 G>A,C), RS1001848094 (16:3400903 C>T), RS1001988921 (16:3406199 G>C), RS1002121467 (16:3400981 G>A,C), RS1002508974 (16:3403712 C>T), RS1003424276 (16:3406193 T>C), RS1003492380 (16:3407309 T>G), RS1003522570 (16:3401581 C>T), RS1003974617 (16:3403220 A>AGTG)

Disease associations

OMIM: gene MIM:603900 | 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
Valproic Acidaffects expression, decreases methylation, increases expression3
sodium arsenitedecreases expression, increases abundance2
p-Chloromercuribenzoic Acidaffects cotreatment, decreases expression2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamidedecreases expression1
FR900359affects phosphorylation1
TAK-243increases sumoylation1
beta-lapachonedecreases expression1
manganese chloridedecreases expression, increases abundance1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamidedecreases expression, affects cotreatment1
abrinedecreases expression1
dorsomorphinaffects cotreatment, decreases expression1
Leflunomidedecreases expression1
Arsenicincreases abundance, decreases expression1
Caffeinedecreases phosphorylation1
Doxorubicindecreases expression1
Hydrogen Peroxideincreases expression1
Manganesedecreases expression, increases abundance1
Mercurydecreases expression1
Silicon Dioxidedecreases expression1
Smokedecreases expression1
Tobacco Smoke Pollutiondecreases expression1
Zincdecreases expression1
Cyclosporinedecreases expression1
Antirheumatic Agentsincreases expression1
Cadmium Chloridedecreases expression1
Copper Sulfatedecreases expression1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_TZ35HAP1 ZNF174 (-) 1Cancer cell lineMale
CVCL_TZ36HAP1 ZNF174 (-) 2Cancer cell lineMale
CVCL_XW12HEK293 eGFP-ZNF174Transformed cell lineFemale

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
NCT02425189Not specifiedCOMPLETEDThe Canadian National Long QT Syndrome Registry
NCT02439645Not specifiedTERMINATEDA Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes
NCT02439658Not specifiedUNKNOWNGenetics of QT Prolongation With Antiarrhythmics
NCT02549664Not specifiedCOMPLETEDExercise in Genetic Cardiovascular Conditions
NCT02581241Not specifiedCOMPLETEDAbnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome
NCT02680080Not specifiedCOMPLETEDEffect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome
NCT02775513Not specifiedUNKNOWNMetabolism of Patients With Genetically Caused Cardiac Arrhythmia
NCT02814981Not specifiedUNKNOWNHydroxyzine and Risk of Prolongation of QT Interval
NCT02876380Not specifiedCOMPLETEDProspective Identification of Long QT Syndrome in Fetal Life
NCT03182777Not specifiedCOMPLETEDSafety of Local Dental Anesthesia in Patients With Cardiac Channelopathies
NCT03544918Not specifiedCOMPLETEDPrevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort
NCT03642405Not specifiedUNKNOWNDrug-induced Repolarization ECG Changes
NCT03678311Not specifiedCOMPLETEDLong QT Syndrome and Sleep Apnea
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): long QT syndrome