RNF207

Summary

RNF207 (ring finger protein 207, HGNC:32947) is a protein-coding gene on chromosome 1p36.31, encoding RING finger protein 207 (Q6ZRF8). Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner.

Enables Hsp70 protein binding activity and transmembrane transporter binding activity. Involved in positive regulation of gene expression. Located in perinuclear region of cytoplasm.

Source: NCBI Gene 388591 — RefSeq curated summary.

At a glance

• Gene–disease (curated): long QT syndrome (Limited, GenCC)
• GWAS associations: 61
• Clinical variants (ClinVar): 149 total — 1 likely-pathogenic
• MANE Select transcript: NM_207396

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32947
Approved symbol	RNF207
Name	ring finger protein 207
Location	1p36.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ46380, FLJ32096
Ensembl gene	ENSG00000158286
Ensembl biotype	protein_coding
OMIM	616923
Entrez	388591

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 19 protein_coding, 6 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000377939, ENST00000463453, ENST00000466994, ENST00000483336, ENST00000484435, ENST00000485539, ENST00000492476, ENST00000496329, ENST00000496676, ENST00000882098, ENST00000882099, ENST00000882100, ENST00000882101, ENST00000882102, ENST00000882103, ENST00000882104, ENST00000922640, ENST00000951264, ENST00000951265, ENST00000951266, ENST00000951267, ENST00000951268, ENST00000951269, ENST00000951270, ENST00000951271, ENST00000951272, ENST00000951273

RefSeq mRNA: 1 — MANE Select: NM_207396 NM_207396

CCDS: CCDS59

Canonical transcript exons

ENST00000377939 — 18 exons

Exon	Start	End
ENSE00001639633	6219236	6221299
ENSE00001734900	6210870	6210938
ENSE00001866099	6206119	6206302
ENSE00003459555	6209268	6209343
ENSE00003459970	6208881	6209025
ENSE00003471198	6210223	6210295
ENSE00003498595	6209414	6209539
ENSE00003529793	6212231	6212416
ENSE00003537209	6213066	6213183
ENSE00003548141	6207379	6207511
ENSE00003561421	6209115	6209196
ENSE00003576581	6218289	6218369
ENSE00003582161	6211021	6211118
ENSE00003625233	6209924	6209970
ENSE00003656861	6211867	6212053
ENSE00003660319	6210370	6210438
ENSE00003663802	6212682	6212733
ENSE00003677151	6206536	6206726

Expression profiles

Bgee: expression breadth ubiquitous, 196 present calls, max score 97.90.

FANTOM5 (CAGE): breadth broad, TPM avg 1.7707 / max 53.5990, expressed in 737 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
363	1.5599	651
365	0.1246	67
364	0.0861	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	97.90	gold quality
right atrium auricular region	UBERON:0006631	94.30	gold quality
heart left ventricle	UBERON:0002084	93.48	gold quality
metanephros cortex	UBERON:0010533	93.27	gold quality
cardiac ventricle	UBERON:0002082	93.11	gold quality
cardiac atrium	UBERON:0002081	92.67	gold quality
right hemisphere of cerebellum	UBERON:0014890	92.36	gold quality
right uterine tube	UBERON:0001302	92.17	gold quality
heart	UBERON:0000948	91.11	gold quality
cerebellar hemisphere	UBERON:0002245	90.84	gold quality
cerebellar cortex	UBERON:0002129	90.66	gold quality
lower esophagus mucosa	UBERON:0035834	90.44	gold quality
right lobe of thyroid gland	UBERON:0001119	90.05	gold quality
minor salivary gland	UBERON:0001830	89.48	gold quality
left lobe of thyroid gland	UBERON:0001120	88.99	gold quality
cerebellum	UBERON:0002037	88.87	gold quality
transverse colon	UBERON:0001157	88.80	gold quality
endocervix	UBERON:0000458	88.69	gold quality
body of pancreas	UBERON:0001150	88.52	gold quality
thyroid gland	UBERON:0002046	87.94	gold quality
esophagus mucosa	UBERON:0002469	87.94	gold quality
vagina	UBERON:0000996	87.20	gold quality
saliva-secreting gland	UBERON:0001044	87.02	gold quality
ectocervix	UBERON:0012249	86.69	gold quality
prostate gland	UBERON:0002367	86.66	gold quality
esophagus	UBERON:0001043	86.35	gold quality
mouth mucosa	UBERON:0003729	86.29	gold quality
adenohypophysis	UBERON:0002196	86.20	gold quality
small intestine Peyer’s patch	UBERON:0003454	86.13	gold quality
right frontal lobe	UBERON:0002810	85.87	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.35

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
KCNH2	Activation

miRNA regulators (miRDB)

95 targeting RNF207, 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-3064-3P	100.00	70.09	1254
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-4728-5P	99.85	69.39	4718

Literature-anchored findings (GeneRIF, showing 4)

• RNF207 is an important regulator of action potential duration, likely via effects on HERG trafficking and localization in a heat shock protein-dependent manner. (PMID:25281747)
• Data indicate that plasma E3 Ligase Rnf207 (ring finger protein 207) level in acute myocardial infarction patients increased significantly compared with that in healthy people. (PMID:25599194)
• Nonsense mutation of RNF207 gene is associated with Long QT syndrome. (PMID:30542207)
• Disruption of protein quality control of the human ether-a-go-go related gene K(+) channel results in profound long QT syndrome. (PMID:34634443)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf207b	ENSDARG00000012409
danio_rerio	rnf207a	ENSDARG00000091126
mus_musculus	Rnf207	ENSMUSG00000058498
rattus_norvegicus	Rnf207	ENSRNOG00000033722
caenorhabditis_elegans		WBGENE00009831

Protein

Protein identifiers

RING finger protein 207 — Q6ZRF8 (reviewed: Q6ZRF8)

All UniProt accessions (1): Q6ZRF8

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in cardiac repolarization possibly by stabilizing membrane expression of the potassium channel KCNH2/HERG, or by assisting its synthesis, folding or export from the endoplasmic reticulum, in a heat shock protein-dependent manner.

Subunit / interactions. Interacts with the core-glycosylated, but not the fully glycosylated form of KCNH2/HERG. Interacts with DNAJA1 and HSPA8. Interacts (via the C-terminus) with HSPA1A; this interaction additively increases KCNH2 expression.

Subcellular location. Cytoplasm.

Polymorphism. Genetic variation in RNF207 may influence the duration of QT interval, a mesure of cardiac repolarization that depends on multiple environmental and genetic contributors. Prolonged or shortened QT intervals predisposes to ventricular arrhythmias and are a risk factor for sudden cardiac death.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6ZRF8-1	1	yes
Q6ZRF8-2	2
Q6ZRF8-3	3
Q6ZRF8-4	4

RefSeq proteins (1): NP_997279* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR018957	Znf_C3HC4_RING-type	Domain
IPR021978	PML-like_CC	Domain
IPR039320	RNF207	Family

Pfam: PF00097, PF00643, PF12126

UniProt features (23 total): splice variant 7, sequence variant 4, binding site 4, zinc finger region 2, coiled-coil region 2, chain 1, mutagenesis site 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZRF8-F1	76.18	0.42

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 (4): 98; 101; 127; 132

Mutagenesis-validated functional residues (1):

Position	Phenotype
25	loss of kcnh2 up-regulation.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, WHITE_NEUROBLASTOMA_WITH_1P36.3_DELETION, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_REGULATION_OF_STRIATED_MUSCLE_CONTRACTION, GOBP_REGULATION_OF_CARDIAC_MUSCLE_CELL_MEMBRANE_REPOLARIZATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EMBRYONIC_HEART_TUBE_DEVELOPMENT, GOBP_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_MUSCLE_CONTRACTION, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, AML_Q6, GOBP_HEART_MORPHOGENESIS

GO Biological Process (5): positive regulation of gene expression (GO:0010628), regulation of cardiac muscle contraction (GO:0055117), regulation of heart looping (GO:1901207), positive regulation of membrane repolarization during ventricular cardiac muscle cell action potential (GO:1905026), positive regulation of membrane repolarization during cardiac muscle cell action potential (GO:1905033)

GO Molecular Function (6): zinc ion binding (GO:0008270), Hsp70 protein binding (GO:0030544), transmembrane transporter binding (GO:0044325), protein-folding chaperone binding (GO:0051087), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein binding	2
cellular anatomical structure	2
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
regulation of striated muscle contraction	1
regulation of heart contraction	1
cardiac muscle contraction	1
heart looping	1
regulation of morphogenesis of an epithelium	1
membrane repolarization during ventricular cardiac muscle cell action potential	1
regulation of membrane repolarization during ventricular cardiac muscle cell action potential	1
positive regulation of membrane repolarization during cardiac muscle cell action potential	1
positive regulation of biological process	1
membrane repolarization during cardiac muscle cell action potential	1
regulation of membrane repolarization during cardiac muscle cell action potential	1
transition metal ion binding	1
heat shock protein binding	1
protein-folding chaperone binding	1
binding	1
cation binding	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

588 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF207	RFFL	Q8WZ73	609
RNF207	NOS1AP	O75052	604
RNF207	GINS3	Q9BRX5	593
RNF207	LITAF	Q99732	571
RNF207	KCNH2	Q12809	525
RNF207	NDRG4	Q9ULP0	507
RNF207	SLC35F1	Q5T1Q4	500
RNF207	FSD2	A1L4K1	489
RNF207	NOL9	Q5SY16	467
RNF207	GPR153	Q6NV75	447
RNF207	TRIM40	Q6P9F5	444
RNF207	CAMSAP3	Q9P1Y5	440
RNF207	THOC7	Q6I9Y2	437
RNF207	KCNJ2	P48049	436
RNF207	ATP1B1	P05026	435

IntAct

0 interactions, top by confidence:

BioGRID (386): KCNH2 (Affinity Capture-Western), RNF207 (Affinity Capture-Western), RNF207 (Affinity Capture-Western), RNF207 (Affinity Capture-Western), RNF207 (Biochemical Activity), UBE2D1 (Reconstituted Complex), RNF207 (Affinity Capture-Western), KCNH2 (Affinity Capture-Western), Myh6 (Affinity Capture-MS), LOC100911597 (Affinity Capture-MS), Sptan1 (Affinity Capture-MS), Myh10 (Affinity Capture-MS), Myh7 (Affinity Capture-MS), Tpm1 (Affinity Capture-MS), Des (Affinity Capture-MS)

ESM2 similar proteins: A0JNG4, A1L3T7, B1AVH7, B5DFA1, D2H0G5, E1U8D0, E9QHE3, I1VZH0, O08629, O60826, O75052, O94964, P58660, P86182, P98171, Q13263, Q149G0, Q1LWB0, Q1RMI8, Q3ULW6, Q3V3A7, Q571B6, Q58D79, Q5JV73, Q5R8S0, Q62318, Q6P4K6, Q6PGG2, Q6ZQ29, Q6ZRF8, Q768S4, Q7TSI1, Q80TQ5, Q8BL43, Q8C7B8, Q8IWE5, Q8K1S6, Q8N163, Q8TF30, Q8VDP4

Diamond homologs: A0JNG4, E9QHE3, I1VZH0, Q11096, Q1XH17, Q3V3A7, Q6ZRF8, Q865W2, Q86XT4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF207	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	113
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
804431	NM_207396.3(RNF207):c.1109+1G>A	Likely pathogenic

SpliceAI

3218 predictions. Top by Δscore:

Variant	Effect	Δscore
1:6206299:GCGG:G	donor_gain	1.0000
1:6206301:GG:G	donor_gain	1.0000
1:6206302:GG:G	donor_gain	1.0000
1:6206303:G:A	donor_loss	1.0000
1:6206303:G:GG	donor_gain	1.0000
1:6206304:T:A	donor_loss	1.0000
1:6206723:GCCA:G	donor_gain	1.0000
1:6206727:G:GG	donor_gain	1.0000
1:6208880:GGAC:G	acceptor_gain	1.0000
1:6209018:G:GT	donor_gain	1.0000
1:6209021:GTGCA:G	donor_gain	1.0000
1:6209022:TGCA:T	donor_gain	1.0000
1:6209023:GCA:G	donor_gain	1.0000
1:6209023:GCAG:G	donor_gain	1.0000
1:6209026:G:GG	donor_gain	1.0000
1:6209030:G:GG	donor_gain	1.0000
1:6209113:A:AG	acceptor_gain	1.0000
1:6209114:G:GA	acceptor_gain	1.0000
1:6209114:GC:G	acceptor_gain	1.0000
1:6209114:GCGC:G	acceptor_gain	1.0000
1:6209114:GCGCT:G	acceptor_gain	1.0000
1:6209194:G:GT	donor_gain	1.0000
1:6209194:GAA:G	donor_gain	1.0000
1:6209197:G:GG	donor_gain	1.0000
1:6209409:CCCAG:C	acceptor_loss	1.0000
1:6209411:CAG:C	acceptor_loss	1.0000
1:6209412:A:T	acceptor_loss	1.0000
1:6209413:GGCC:G	acceptor_gain	1.0000
1:6209536:GCAG:G	donor_gain	1.0000
1:6209537:C:T	donor_gain	1.0000

AlphaMissense

4132 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:6208965:T:C	F137L	0.996
1:6208967:C:A	F137L	0.996
1:6208967:C:G	F137L	0.996
1:6208966:T:G	F137C	0.991
1:6208935:T:A	C127S	0.987
1:6208936:G:C	C127S	0.987
1:6208966:T:C	F137S	0.987
1:6213111:T:C	L527P	0.987
1:6208903:G:A	C116Y	0.986
1:6211046:T:C	F346S	0.986
1:6208902:T:A	C116S	0.985
1:6208903:G:C	C116S	0.985
1:6213081:T:C	L517P	0.985
1:6213144:T:A	V538D	0.985
1:6208902:T:C	C116R	0.983
1:6208912:G:A	C119Y	0.983
1:6209141:T:C	F166L	0.983
1:6209143:C:A	F166L	0.983
1:6209143:C:G	F166L	0.983
1:6210421:T:C	F309L	0.983
1:6210423:C:A	F309L	0.983
1:6210423:C:G	F309L	0.983
1:6206608:T:C	C25R	0.982
1:6208899:T:C	F115L	0.982
1:6208901:C:A	F115L	0.982
1:6208901:C:G	F115L	0.982
1:6208903:G:T	C116F	0.981
1:6208950:C:G	H132D	0.981
1:6208965:T:A	F137I	0.981
1:6211046:T:G	F346C	0.981

dbSNP variants (sampled 300 via entrez): RS1000100757 (1:6206244 G>T), RS1000165198 (1:6214404 T>A,G), RS1000499898 (1:6207509 C>G), RS1000556011 (1:6206459 G>A), RS1000570535 (1:6208874 C>G,T), RS1000733566 (1:6207892 G>A), RS1001019132 (1:6217581 A>T), RS1001273334 (1:6215358 G>A), RS1001471354 (1:6217958 T>G), RS1001500535 (1:6213288 A>C), RS1001525195 (1:6204569 T>G), RS1001744434 (1:6218835 G>A), RS1002049439 (1:6220539 C>T), RS1002106916 (1:6208710 G>A), RS1002298098 (1:6204772 T>G)

Disease associations

OMIM: gene MIM:616923 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
long QT syndrome	Limited	Autosomal dominant

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

61 associations (top):

Study	Trait	p-value
GCST000363_5	QT interval	1.000000e-16
GCST000364_11	QT interval	4.000000e-16
GCST002500_46	QT interval	7.000000e-09
GCST002500_47	QT interval	7.000000e-40
GCST003818_24	Resting heart rate	2.000000e-11
GCST004279_26	Systolic blood pressure	3.000000e-10
GCST005171_18	QT interval	1.000000e-12
GCST006022_5	Pulse pressure	2.000000e-09
GCST007218_3	QT interval	5.000000e-12
GCST009016_1	T wave morphology restitution during exercise	2.000000e-11
GCST009068_1	T wave morphology restitution during exercise (MTAG)	9.000000e-11
GCST010346_27	TPE interval (resting)	6.000000e-28
GCST010796_1076	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-24
GCST010796_1077	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-25
GCST010796_1078	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-25
GCST010796_1079	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-25
GCST010796_1080	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-26
GCST010796_1081	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-27
GCST010796_1082	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-26
GCST010796_1083	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-26
GCST010796_1084	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-25
GCST010796_1085	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-24
GCST010796_1086	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-25
GCST010796_1088	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-25
GCST010796_1089	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-23
GCST010796_1090	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-22
GCST010796_1091	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-21
GCST010796_1092	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-20
GCST010796_1093	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-19
GCST010796_1094	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-18

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0006335	systolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0008398	T wave morphology measurement
EFO:0004644	TPE interval measurement
EFO:0004327	electrocardiography

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

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

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	increases expression	1
bisphenol A	decreases expression	1
2,4,5,2’,4’,5’-hexachlorobiphenyl	decreases expression	1
beta-lapachone	decreases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
butyraldehyde	decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
ferrous chloride	decreases expression	1
pentanal	decreases expression	1
abrine	increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	increases methylation	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cisplatin	affects cotreatment, increases expression	1
Copper	affects binding, increases expression	1
Diazinon	increases methylation	1
Disulfiram	affects binding, increases expression	1
Manganese	increases abundance, affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tretinoin	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