ABCF2

gene
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Also known as EST133090ABC28M-ABC1HUSSY-18

Summary

ABCF2 (ATP binding cassette subfamily F member 2, HGNC:71) is a protein-coding gene on chromosome 7q36.1, encoding ATP-binding cassette sub-family F member 2 (Q9UG63).

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. Alterations in this gene may be involved in cancer progression. Related pseudogenes have been identified on chromosomes 3 and 7.

Source: NCBI Gene 10061 — RefSeq curated summary.

At a glance

  • GWAS associations: 10
  • Clinical variants (ClinVar): 41 total — 3 pathogenic, 1 likely-pathogenic
  • Druggable target: yes
  • MANE Select transcript: NM_007189

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:71
Approved symbolABCF2
NameATP binding cassette subfamily F member 2
Location7q36.1
Locus typegene with protein product
StatusApproved
AliasesEST133090, ABC28, M-ABC1, HUSSY-18
Ensembl geneENSG00000033050
Ensembl biotypeprotein_coding
OMIM612510
Entrez10061

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 19 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000287844, ENST00000441774, ENST00000468073, ENST00000473874, ENST00000477252, ENST00000889547, ENST00000889548, ENST00000889549, ENST00000889550, ENST00000889551, ENST00000889552, ENST00000889553, ENST00000889554, ENST00000889555, ENST00000889556, ENST00000926792, ENST00000926793, ENST00000926794, ENST00000926795, ENST00000970627, ENST00000970628

RefSeq mRNA: 1 — MANE Select: NM_007189 NM_007189

CCDS: CCDS5923

Canonical transcript exons

ENST00000287844 — 15 exons

ExonStartEnd
ENSE00001354848151211484151214191
ENSE00001354863151227163151227205
ENSE00003817063151214879151215082
ENSE00003817212151226305151226500
ENSE00003817476151215967151216029
ENSE00003818251151223678151223849
ENSE00003819593151219064151219159
ENSE00003821046151215604151215732
ENSE00003821589151218561151218650
ENSE00003822627151221578151221680
ENSE00003822729151222521151222616
ENSE00003824210151223932151224114
ENSE00003825168151218081151218191
ENSE00003828022151218754151218873
ENSE00003830244151224776151224988

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 91.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.0270 / max 155.1186, expressed in 1808 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
8688328.02701808

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
sural nerveUBERON:001548891.89gold quality
gastrocnemiusUBERON:000138891.45gold quality
muscle of legUBERON:000138390.78gold quality
tibialis anteriorUBERON:000138590.51silver quality
endothelial cellCL:000011588.32gold quality
right frontal lobeUBERON:000281087.98gold quality
cortical plateUBERON:000534387.90gold quality
secondary oocyteCL:000065587.42gold quality
muscle organUBERON:000163087.41gold quality
apex of heartUBERON:000209887.26gold quality
prefrontal cortexUBERON:000045187.07gold quality
hindlimb stylopod muscleUBERON:000425287.05gold quality
Brodmann (1909) area 9UBERON:001354086.62gold quality
right hemisphere of cerebellumUBERON:001489086.58gold quality
oocyteCL:000002386.14gold quality
heart left ventricleUBERON:000208486.14gold quality
mucosa of transverse colonUBERON:000499186.14gold quality
cerebellar hemisphereUBERON:000224586.11gold quality
cerebellar cortexUBERON:000212985.94gold quality
deltoidUBERON:000147685.93silver quality
cardiac ventricleUBERON:000208285.80gold quality
stromal cell of endometriumCL:000225585.72gold quality
islet of LangerhansUBERON:000000685.66gold quality
lower esophagus muscularis layerUBERON:003583385.40gold quality
lower esophagusUBERON:001347385.36gold quality
left testisUBERON:000453385.35gold quality
ganglionic eminenceUBERON:000402385.34gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099185.12gold quality
right testisUBERON:000453485.02gold quality
adenohypophysisUBERON:000219685.01gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes6.61
E-GEOD-124858no155.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

1 targeting ABCF2, 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-432-5P98.0068.13989

Literature-anchored findings (GeneRIF, showing 6)

  • ABCF2 may have a role in progression of clear cell ovarian adenocarcinomas (PMID:16203778)
  • Data suggest that ABCF2 protein may be a candidate marker for clear cell adenocarcinomas of the ovary and the uterine corpus and may be important for the pathogenesis of these diseases. (PMID:16996567)
  • Among cervical cancer cases, 149 (55.8%) expressed ABCF2. The overall survival was longer in ABCF2-negative than ABCF2-positive cases (PMID:19002184)
  • Overexpression of ABCF2 suppressed RVD. (PMID:22252987)
  • The NRF2-overexpressing cell line, containing high levels of ABCF2, was more resistant to cisplatin-induced apoptosis compared to its control ovarian cancer cell line; whereas the NRF2 knockdown cell line with low levels of ABCF2, was more sensitive to cisplatin treatment than its control cell line. (PMID:28112439)
  • Circular RNA Eps15-homology domain-containing protein 2 induce resistance of renal cell carcinoma to sunitinib via microRNA-4731-5p/ABCF2 axis. (PMID:35412955)

Cross-species orthologs

6 orthologs

OrganismSymbolGene ID
danio_rerioabcf2aENSDARG00000038785
danio_rerioabcf2bENSDARG00000052331
mus_musculusAbcf2ENSMUSG00000028953
rattus_norvegicusAbcf2ENSRNOG00000010609
drosophila_melanogasterCG9281FBGN0030672
caenorhabditis_elegansWBGENE00012097

Paralogs (2): ABCF3 (ENSG00000161204), ABCF1 (ENSG00000204574)

Protein

Protein identifiers

ATP-binding cassette sub-family F member 2Q9UG63 (reviewed: Q9UG63)

Alternative names: Iron-inhibited ABC transporter 2

All UniProt accessions (4): A0A090N7X1, C9JHK9, C9JZV3, Q9UG63

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the ABC transporter superfamily. ABCF family. EF3 subfamily.

Isoforms (2)

UniProt IDNamesCanonical?
Q9UG63-11yes
Q9UG63-22

RefSeq proteins (1): NP_009120* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR003439ABC_transporter-like_ATP-bdDomain
IPR003593AAA+_ATPaseDomain
IPR017871ABC_transporter-like_CSConserved_site
IPR027417P-loop_NTPaseHomologous_superfamily
IPR032781ABC_tran_XtnDomain
IPR050611ABCFFamily

Pfam: PF00005, PF12848

UniProt features (13 total): modified residue 3, domain 2, sequence conflict 2, binding site 2, chain 1, splice variant 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q9UG63-F183.570.45

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (2): 118–125; 430–437

Post-translational modifications (3): 218, 304, 512

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

IDPathway
R-HSA-9818032NFE2L2 regulating MDR associated enzymes
R-HSA-2262752Cellular responses to stress
R-HSA-8953897Cellular responses to stimuli
R-HSA-9711123Cellular response to chemical stress
R-HSA-9755511KEAP1-NFE2L2 pathway
R-HSA-9759194Nuclear events mediated by NFE2L2

MSigDB gene sets: 173 (showing top): ELVIDGE_HYPOXIA_DN, E2F_Q4_01, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, SHEPARD_CRASH_AND_BURN_MUTANT_UP, ROVERSI_GLIOMA_COPY_NUMBER_UP, AP2_Q3, WEI_MYCN_TARGETS_WITH_E_BOX, E2F_Q3, SOX9_B1, WANG_LMO4_TARGETS_DN, GARY_CD5_TARGETS_DN, SCHLOSSER_SERUM_RESPONSE_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, AACTTT_UNKNOWN, GFI1_01

GO Biological Process (0):

GO Molecular Function (3): ATP binding (GO:0005524), ATP hydrolysis activity (GO:0016887), nucleotide binding (GO:0000166)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-5 pathways:

CategoryPathways
Nuclear events mediated by NFE2L21
Cellular responses to stimuli1
Cellular responses to stress1
Cellular response to chemical stress1
KEAP1-NFE2L2 pathway1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
adenyl ribonucleotide binding1
purine ribonucleoside triphosphate binding1
ribonucleoside triphosphate phosphatase activity1
ATP-dependent activity1
nucleoside phosphate binding1
heterocyclic compound binding1
membrane1
cell periphery1
cellular anatomical structure1

Protein interactions and networks

STRING

3014 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
ABCF2ABCB1P08183804
ABCF2ABCE1P61221714
ABCF2ABCB6Q9NP58643
ABCF2ABCD4O14678623
ABCF2ABCB7O75027580
ABCF2ABCC5O15440565
ABCF2ABCC11Q96J66554
ABCF2ABCG4Q9H172554
ABCF2ABCB8Q9NUT2548
ABCF2ABCC12Q96J65524
ABCF2ABCB9Q9NP78522
ABCF2ABCC2Q92887495
ABCF2ABCG2Q9UNQ0484
ABCF2ABCC10Q5T3U5481
ABCF2ABCA13Q86UQ4475

IntAct

84 interactions, top by confidence:

ABTypeScore
CFTRESYT2psi-mi:“MI:2364”(proximity)0.710
RAF1CALUpsi-mi:“MI:0914”(association)0.640
IGF1RPIK3R2psi-mi:“MI:2364”(proximity)0.590
ILKHAX1psi-mi:“MI:0914”(association)0.530
ABCF2AHCYL1psi-mi:“MI:0914”(association)0.530
SNW1SNRNP200psi-mi:“MI:0914”(association)0.530
ABCF2HADHApsi-mi:“MI:0915”(physical association)0.370
ACAD9NDUFS2psi-mi:“MI:0914”(association)0.350
OTUB1psi-mi:“MI:0914”(association)0.350
OTUB1EPM2Apsi-mi:“MI:0914”(association)0.350
RPL10RPS6psi-mi:“MI:0914”(association)0.350
NfycBDP1psi-mi:“MI:0914”(association)0.350
PPP5CPSEN2psi-mi:“MI:0914”(association)0.350
Uso1SLC30A6psi-mi:“MI:0914”(association)0.350
Mis12CTNNB1psi-mi:“MI:0914”(association)0.350
Smc1aPDS5Bpsi-mi:“MI:0914”(association)0.350
TM9SF4psi-mi:“MI:0914”(association)0.350
NPM1RPSApsi-mi:“MI:0914”(association)0.350
MAD2L1MAD1L1psi-mi:“MI:0914”(association)0.350
JUNTPM3psi-mi:“MI:0914”(association)0.350
HSCBRBP5psi-mi:“MI:0914”(association)0.350
KSR1FBLL1psi-mi:“MI:0914”(association)0.350
KSR1DDX39Apsi-mi:“MI:0914”(association)0.350
KSR1psi-mi:“MI:0914”(association)0.350
BCAR1MYO1Cpsi-mi:“MI:0914”(association)0.350

BioGRID (253): ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-RNA), ABCF2 (Affinity Capture-RNA), ABCF2 (Affinity Capture-RNA), ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-MS), ABCF2 (Affinity Capture-MS), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation), ABCF2 (Co-fractionation)

ESM2 similar proteins: A0A0D1CLQ4, A0A139AVY4, A9X4T1, B9FK36, C5E4D9, D0MYB4, G5EES6, J9VQZ9, O14134, O42943, O59672, O93796, O94489, P06625, P08240, P16521, P16638, P25997, P29551, P40024, P43535, P53396, P53585, P53978, Q08972, Q2KJA2, Q2TCH3, Q32PF2, Q3MHE8, Q4HY71, Q5KIM6, Q5R9Z5, Q66H39, Q6MG08, Q75EV6, Q767L0, Q7YR37, Q8H0V6, Q8K268, Q8NE71

Diamond homologs: A0A0H2VBH0, A0A0H2VFI8, A0KPH6, A1AC19, A1B9H9, A1JRI2, A1U776, O05519, O06476, O31716, O34512, O34631, O42943, O59672, P0A9U3, P0A9U4, P0A9U5, P0A9W3, P0A9W4, P0A9W5, P0A9X1, P0A9X2, P0A9X3, P12622, P25256, P40024, P43535, P43672, P44808, P45127, P57403, P63389, P63390, P9WQK2, P9WQK3, Q0I4A9, Q0T3U8, Q0TGX4, Q0VTB6, Q1C1S0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 117 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.

GO biological processes:

GO termPartnersFoldFDR
positive regulation of MAPK cascade97.6×3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic3
Likely pathogenic1
Uncertain significance20
Likely benign0
Benign0

Top pathogenic / likely-pathogenic (4)

Variant IDHGVSClassification
1330211GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1Pathogenic
145486GRCh38/hg38 7q36.1-36.2(chr7:151214163-153187462)x1Pathogenic
527120NC_000007.13:g.(?150642433)(151573725_?)delPathogenic
149569GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3Likely pathogenic

SpliceAI

2217 predictions. Top by Δscore:

VariantEffectΔscore
7:151214187:GCAAC:Gacceptor_gain1.0000
7:151214188:CAAC:Cacceptor_gain1.0000
7:151214188:CAACC:Cacceptor_gain1.0000
7:151214189:AAC:Aacceptor_gain1.0000
7:151214190:AC:Aacceptor_gain1.0000
7:151214191:CC:Cacceptor_gain1.0000
7:151214192:C:CCacceptor_gain1.0000
7:151214873:CCTCA:Cdonor_loss1.0000
7:151214877:AC:Adonor_loss1.0000
7:151214878:CC:Cdonor_loss1.0000
7:151214878:CCTG:Cdonor_gain1.0000
7:151214919:C:CTdonor_gain1.0000
7:151214993:C:CTacceptor_gain1.0000
7:151215601:GAC:Gdonor_loss1.0000
7:151215603:C:CTdonor_loss1.0000
7:151215642:T:TAdonor_gain1.0000
7:151215728:AAATG:Aacceptor_gain1.0000
7:151215729:AATG:Aacceptor_gain1.0000
7:151215730:ATG:Aacceptor_gain1.0000
7:151215731:TG:Tacceptor_gain1.0000
7:151215731:TGCTA:Tacceptor_loss1.0000
7:151215732:GCTAC:Gacceptor_loss1.0000
7:151215733:C:CCacceptor_gain1.0000
7:151215961:CTGTA:Cdonor_loss1.0000
7:151215962:TGTA:Tdonor_loss1.0000
7:151215963:GTAC:Gdonor_loss1.0000
7:151215964:TACC:Tdonor_loss1.0000
7:151215965:A:Cdonor_loss1.0000
7:151215966:CCTG:Cdonor_loss1.0000
7:151215984:T:Cdonor_gain1.0000

AlphaMissense

4117 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
7:151214889:A:GL575P1.000
7:151214898:T:AD572V1.000
7:151214898:T:CD572G1.000
7:151214898:T:GD572A1.000
7:151214900:A:CH571Q1.000
7:151214900:A:TH571Q1.000
7:151214902:G:CH571D1.000
7:151214903:G:CS570R1.000
7:151214903:G:TS570R1.000
7:151214905:T:GS570R1.000
7:151214947:C:GA556P1.000
7:151214949:A:GL555P1.000
7:151214970:T:AD548V1.000
7:151214973:A:GL547P1.000
7:151214978:A:CN545K1.000
7:151214978:A:TN545K1.000
7:151214985:G:TP543H1.000
7:151214987:T:AE542D1.000
7:151214987:T:GE542D1.000
7:151214988:T:AE542V1.000
7:151214988:T:CE542G1.000
7:151214988:T:GE542A1.000
7:151214989:C:TE542K1.000
7:151214991:T:AD541V1.000
7:151214992:C:GD541H1.000
7:151215030:G:TA528D1.000
7:151215054:C:AG520V1.000
7:151215054:C:TG520E1.000
7:151215055:C:AG520W1.000
7:151215055:C:GG520R1.000

dbSNP variants (sampled 300 via entrez): RS1000038159 (7:151217529 G>A), RS1000146707 (7:151225174 C>G), RS1000374572 (7:151211129 C>T), RS1000560000 (7:151228216 C>T), RS1000831940 (7:151218638 A>C), RS1001022204 (7:151212767 A>G), RS1001026718 (7:151222058 A>C), RS1001039489 (7:151215888 C>T), RS1001112917 (7:151215538 C>A,G,T), RS1001251641 (7:151225418 C>T), RS1001438379 (7:151211902 C>T), RS1001592735 (7:151220725 T>C), RS1001765685 (7:151217876 T>A,G), RS1001965499 (7:151227174 G>A), RS1002092332 (7:151214267 C>A,T)

Disease associations

OMIM: gene MIM:612510 | disease phenotypes: MIM:617768

GenCC curated gene-disease

Mondo (2): Kleefstra syndrome 2 (MONDO:0054701), long QT syndrome (MONDO:0002442)

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

StudyTraitp-value
GCST001848_161IgG glycosylation2.000000e-10
GCST001848_453IgG glycosylation2.000000e-09
GCST001848_557IgG glycosylation1.000000e-09
GCST001848_60IgG glycosylation7.000000e-06
GCST001848_603IgG glycosylation6.000000e-10
GCST003476_9Eyebrow thickness7.000000e-06
GCST007691_24Femoral neck bone mineral density7.000000e-09
GCST008758_66Pre-treatment viral load in HIV-1 infection4.000000e-17
GCST008839_24Height1.000000e-09
GCST009860_4IgG N-glycosylation phenotypes (multivariate analysis)2.000000e-22

EFO canonical traits (3, from GWAS)

EFO IDTrait name
EFO:0005193serum IgG glycosylation measurement
EFO:0007785femoral neck bone mineral density
EFO:0010125viral load

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: yes

ChEMBL targets (1): CHEMBL6067160 (SINGLE PROTEIN)

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

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
5.26Kd5468nMCHEMBL3752910
5.26ED505468nMCHEMBL3752910

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

CompoundAssayTypeValueUnit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide2149821: Binding affinity to human ABCF2 incubated for 45 mins by Kinobead based pull down assaykd5.4678uM

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
sodium arseniteaffects expression, decreases expression3
Nickeldecreases expression, increases expression3
bisphenol Aaffects expression, decreases expression2
aristolochic acid Iincreases expression1
bisphenol Fincreases expression1
TAK-243decreases sumoylation1
uranyl acetateaffects expression1
deoxynivalenolincreases expression1
quercitrinincreases expression1
cobaltous chloridedecreases expression1
di-n-butylphosphoric acidaffects expression1
CGP 52608affects binding, increases reaction1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidinedecreases expression, increases response to substance1
NSC 689534affects binding, increases expression1
Air Pollutants, Occupationaldecreases expression1
Arsenicaffects methylation1
Benzo(a)pyreneincreases methylation1
Copperaffects binding, increases expression1
Dichlorodiphenyl Dichloroethyleneincreases expression1
Estradiolincreases expression1
Ethyl Methanesulfonatedecreases expression1
Formaldehydeincreases expression1
Hydrogen Peroxideaffects expression1
Ivermectindecreases expression1
Methotrexatedecreases expression1
Methyl Methanesulfonatedecreases expression1
Ribonucleotidesaffects binding1
Rotenonedecreases expression1
Sarindecreases expression, increases expression1
Smokedecreases expression1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL5652863BindingBinding affinity to human ABCF2 incubated for 45 mins by Kinobead based pull down assayNVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

CellosaurusNameCategorySex
CVCL_B2R3Abcam HEK293T ABCF2 KOTransformed 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): Kleefstra syndrome 2