LRRC8E

Summary

LRRC8E (leucine rich repeat containing 8 VRAC subunit E, HGNC:26272) is a protein-coding gene on chromosome 19p13.2, encoding Volume-regulated anion channel subunit LRRC8E (Q6NSJ5). Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes.

This gene encodes a member of a small, conserved family of proteins with similar structure, including a string of extracellular leucine-rich repeats. A related protein was shown to be involved in B-cell development. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 80131 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 172 total
• MANE Select transcript: NM_025061

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26272
Approved symbol	LRRC8E
Name	leucine rich repeat containing 8 VRAC subunit E
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23420
Ensembl gene	ENSG00000171017
Ensembl biotype	protein_coding
OMIM	612891
Entrez	80131

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 10 protein_coding

ENST00000306708, ENST00000593511, ENST00000598224, ENST00000599367, ENST00000600345, ENST00000618098, ENST00000907356, ENST00000920427, ENST00000956217, ENST00000956218

RefSeq mRNA: 3 — MANE Select: NM_025061 NM_001268284, NM_001268285, NM_025061

CCDS: CCDS12189

Canonical transcript exons

ENST00000306708 — 3 exons

Exon	Start	End
ENSE00001284471	7895599	7895741
ENSE00001308242	7898661	7902016
ENSE00003848470	7888510	7888600

Expression profiles

Bgee: expression breadth ubiquitous, 180 present calls, max score 90.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.4879 / max 34.7776, expressed in 1067 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173613	1.4595	876
173614	1.0284	559

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	90.59	gold quality
oocyte	CL:0000023	87.61	gold quality
gingival epithelium	UBERON:0001949	82.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.45	gold quality
gingiva	UBERON:0001828	80.56	gold quality
lower esophagus mucosa	UBERON:0035834	78.25	gold quality
skin of leg	UBERON:0001511	77.93	gold quality
parotid gland	UBERON:0001831	77.47	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	76.74	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	76.49	gold quality
skin of abdomen	UBERON:0001416	76.47	gold quality
buccal mucosa cell	CL:0002336	75.98	silver quality
zone of skin	UBERON:0000014	75.91	gold quality
stromal cell of endometrium	CL:0002255	75.87	gold quality
tongue squamous epithelium	UBERON:0006919	75.03	gold quality
right adrenal gland cortex	UBERON:0035827	75.03	gold quality
left adrenal gland	UBERON:0001234	74.94	gold quality
right adrenal gland	UBERON:0001233	74.83	gold quality
saliva-secreting gland	UBERON:0001044	74.68	gold quality
mucosa of paranasal sinus	UBERON:0005030	74.66	gold quality
mouth mucosa	UBERON:0003729	74.51	gold quality
palpebral conjunctiva	UBERON:0001812	74.45	gold quality
minor salivary gland	UBERON:0001830	74.38	gold quality
left adrenal gland cortex	UBERON:0035825	74.28	gold quality
amniotic fluid	UBERON:0000173	74.26	gold quality
nasal cavity epithelium	UBERON:0005384	73.92	silver quality
bronchial epithelial cell	CL:0002328	73.80	gold quality
adrenal cortex	UBERON:0001235	73.55	gold quality
esophagus mucosa	UBERON:0002469	73.22	gold quality
nasal cavity mucosa	UBERON:0001826	71.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.77

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting LRRC8E, 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-6077	99.99	68.04	2299
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-6861-3P	99.60	68.46	444
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-6871-3P	99.43	68.85	741
HSA-MIR-4777-5P	99.33	67.53	1148
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-544B	99.18	67.41	1632
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-1207-3P	98.99	66.22	1532
HSA-MIR-4424	98.91	70.33	1145
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-605-5P	98.79	68.24	1161
HSA-MIR-589-5P	98.72	66.96	927
HSA-MIR-5011-3P	98.63	64.81	638
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-6852-3P	98.54	67.60	1468
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-619-3P	98.38	65.58	693
HSA-MIR-660-3P	98.14	66.04	1434
HSA-MIR-891A-3P	98.05	67.99	970
HSA-MIR-4659A-5P	98.03	66.42	819

Literature-anchored findings (GeneRIF, showing 1)

• identified four genes, named TA-LRRP, AD158, LRRC5, and FLJ23420, as unknown LRRC8-like genes (PMID:15094057)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:ch211-106h11.1	ENSDARG00000017720
danio_rerio	lrrc8da	ENSDARG00000103370
mus_musculus	Lrrc8e	ENSMUSG00000046589
rattus_norvegicus	Lrrc8e	ENSRNOG00000028460

Paralogs (31): LRRC7 (ENSG00000033122), PHLPP2 (ENSG00000040199), LRRC40 (ENSG00000066557), LRCH4 (ENSG00000077454), PHLPP1 (ENSG00000081913), SHOC2 (ENSG00000108061), ERBIN (ENSG00000112851), LRRC39 (ENSG00000122477), LRCH2 (ENSG00000130224), LRCH1 (ENSG00000136141), LRRC8A (ENSG00000136802), LRRC1 (ENSG00000137269), MFHAS1 (ENSG00000147324), LRRC27 (ENSG00000148814), LRRK1 (ENSG00000154237), LRRC58 (ENSG00000163428), LRRC2 (ENSG00000163827), LRRC18 (ENSG00000165383), LRRC28 (ENSG00000168904), LRRC8C (ENSG00000171488), LRRC8D (ENSG00000171492), PIDD1 (ENSG00000177595), SCRIB (ENSG00000180900), LRCH3 (ENSG00000186001), LRRIQ4 (ENSG00000188306), LRRC8B (ENSG00000197147), LRRC10 (ENSG00000198812), LRRC10B (ENSG00000204950), LRRC30 (ENSG00000206422), LRRC69 (ENSG00000214954), LRRD1 (ENSG00000240720)

Protein

Protein identifiers

Volume-regulated anion channel subunit LRRC8E — Q6NSJ5 (reviewed: Q6NSJ5)

Alternative names: Leucine-rich repeat-containing protein 8E

All UniProt accessions (5): Q6NSJ5, M0QZ48, M0R2D8, M0R2K8, M0R3C1

UniProt curated annotations — full annotation on UniProt →

Function. Non-essential component of the volume-regulated anion channel (VRAC, also named VSOAC channel), an anion channel required to maintain a constant cell volume in response to extracellular or intracellular osmotic changes. The VRAC channel conducts iodide better than chloride and can also conduct organic osmolytes like taurine. Mediates efflux of amino acids, such as aspartate, in response to osmotic stress. The VRAC channel also mediates transport of immunoreactive cyclic dinucleotide GMP-AMP (2’-3’-cGAMP), an immune messenger produced in response to DNA virus in the cytosol. Channel activity requires LRRC8A plus at least one other family member (LRRC8B, LRRC8C, LRRC8D or LRRC8E); channel characteristics depend on the precise subunit composition. Also plays a role in lysosome homeostasis by forming functional lysosomal VRAC channels in response to low cytoplasmic ionic strength condition: lysosomal VRAC channels are necessary for the formation of large lysosome-derived vacuoles, which store and then expel excess water to maintain cytosolic water homeostasis.

Subunit / interactions. Heterohexamer; oligomerizes with other LRRC8 proteins (LRRC8A, LRRC8C, LRRC8D and/or LRRC8B) to form a heterohexamer. In vivo, the subunit composition may depend primarily on expression levels, and heterooligomeric channels containing various proportions of the different LRRC8 proteins may coexist.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Lysosome membrane.

Domain organisation. The volume-regulated anion channel (VRAC) channel forms a trimer of dimers, with symmetry mismatch between the pore-forming domain and the cytosolic LRR repeats, a topology similar to gap junction proteins.

Similarity. Belongs to the LRRC8 family.

RefSeq proteins (3): NP_001255213, NP_001255214, NP_079337* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR021040	LRRC8_Pannexin-like	Domain
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050216	LRR_domain-containing	Family

Pfam: PF00560, PF12534, PF13855

Catalyzed reactions (Rhea), 4 shown:

• chloride(in) = chloride(out) (RHEA:29823)
• 2’,3’-cGAMP(out) = 2’,3’-cGAMP(in) (RHEA:66320)
• iodide(out) = iodide(in) (RHEA:66324)
• taurine(out) = taurine(in) (RHEA:66328)

UniProt features (32 total): repeat 11, topological domain 5, transmembrane region 4, sequence variant 4, sequence conflict 3, glycosylation site 2, chain 1, disulfide bond 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NSJ5-F1	84.73	0.54

Functional residue map

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

Disulfide bonds (1): 54–301

Glycosylation sites (2): 63, 302

Mutagenesis-validated functional residues (1):

Position	Phenotype
44	alters channel anion selectivity.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-5223345	Miscellaneous transport and binding events
R-HSA-382551	Transport of small molecules

MSigDB gene sets: 101 (showing top): GOCC_VACUOLAR_MEMBRANE, GOBP_AMINO_ACID_TRANSMEMBRANE_TRANSPORT, GOBP_NUCLEOTIDE_TRANSPORT, GOBP_ORGANIC_ACID_TRANSPORT, GOBP_ORGANOPHOSPHATE_ESTER_TRANSPORT, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, AP1_Q4_01, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, AAACCAC_MIR140, BACH2_01, GOBP_NUCLEOTIDE_TRANSMEMBRANE_TRANSPORT, GOBP_AMINO_ACID_TRANSPORT, GOBP_NUCLEOBASE_CONTAINING_COMPOUND_TRANSPORT, GOBP_REGULATION_OF_CELL_SIZE, GOBP_ORGANIC_ANION_TRANSPORT

GO Biological Process (7): cell volume homeostasis (GO:0006884), aspartate transmembrane transport (GO:0015810), cellular response to osmotic stress (GO:0071470), monoatomic anion transmembrane transport (GO:0098656), cyclic-GMP-AMP transmembrane import across plasma membrane (GO:0140361), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220)

GO Molecular Function (2): volume-sensitive anion channel activity (GO:0005225), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), lysosomal membrane (GO:0005765), endoplasmic reticulum membrane (GO:0005789), plasma membrane (GO:0005886), monoatomic ion channel complex (GO:0034702), lysosome (GO:0005764), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Transport of small molecules	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
regulation of cell size	1
cellular homeostasis	1
amino acid transmembrane transport	1
C4-dicarboxylate transport	1
acidic amino acid transport	1
nitrogen compound transport	1
carboxylic acid transmembrane transport	1
response to osmotic stress	1
cellular response to chemical stress	1
cellular response to abiotic stimulus	1
monoatomic anion transport	1
monoatomic ion transmembrane transport	1
purine ribonucleotide transport	1
adenine nucleotide transport	1
cyclic nucleotide transport	1
import across plasma membrane	1
guanine nucleotide transmembrane transport	1
transport	1
monoatomic ion transport	1
transmembrane transport	1
monoatomic anion channel activity	1
binding	1
intracellular anatomical structure	1
lysosome	1
lytic vacuole membrane	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
membrane	1
cell periphery	1
transmembrane transporter complex	1
lytic vacuole	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

898 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRRC8E	TTYH3	Q9C0H2	604
LRRC8E	TTYH2	Q9BSA4	589
LRRC8E	BEST1	O76090	585
LRRC8E	TTYH1	Q9H313	531
LRRC8E	CLCN3	P51790	524
LRRC8E	KCP	Q6ZWJ8	519
LRRC8E	CLCA4	Q14CN2	478
LRRC8E	ZNF557	Q8N988	476
LRRC8E	HEPACAM	Q14CZ8	475
LRRC8E	CLCA2	Q9UQC9	473
LRRC8E	PANX1	Q96RD7	467
LRRC8E	CALHM1	Q8IU99	463
LRRC8E	CFTR	P13569	461
LRRC8E	ZNF358	Q9NW07	458
LRRC8E	RABEPK	Q7Z6M1	446

IntAct

101 interactions, top by confidence:

A	B	Type	Score
TRIM2	TRIM3	psi-mi:“MI:0914”(association)	0.770
LRRC8E	TRIM2	psi-mi:“MI:0915”(physical association)	0.740
TRIM2	LRRC8E	psi-mi:“MI:0915”(physical association)	0.740
P2RX4	FAM20B	psi-mi:“MI:0914”(association)	0.640
LRRC8E	SAMD4B	psi-mi:“MI:0915”(physical association)	0.560
	LRRC8E	psi-mi:“MI:0915”(physical association)	0.560
TRIM3	LRRC8E	psi-mi:“MI:0915”(physical association)	0.560
GPSM2	LRRC8E	psi-mi:“MI:0915”(physical association)	0.560
SAMD4B	LRRC8E	psi-mi:“MI:0915”(physical association)	0.560
LRRC8E	LNX2	psi-mi:“MI:0915”(physical association)	0.550
LRRC8B	SLC25A17	psi-mi:“MI:0914”(association)	0.530
PTGIR	TMEM63A	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530
CHRNA4	FZD6	psi-mi:“MI:0914”(association)	0.530
LRRC8A	LRRC8E	psi-mi:“MI:0915”(physical association)	0.520
LRRC8E	PGAM5	psi-mi:“MI:0915”(physical association)	0.400
OR4D6	LRRC8E	psi-mi:“MI:0915”(physical association)	0.400
	LRRC8E	psi-mi:“MI:0915”(physical association)	0.400
LGALS8	SLC22A23	psi-mi:“MI:0914”(association)	0.350
DLK2	SLC22A23	psi-mi:“MI:0914”(association)	0.350
PTGIR	GPAA1	psi-mi:“MI:0914”(association)	0.350
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
LRRC8E	TBC1D4	psi-mi:“MI:0914”(association)	0.350
FCGR3B	NRP2	psi-mi:“MI:0914”(association)	0.350

BioGRID (127): LRRC8E (Affinity Capture-RNA), LRRC8E (Affinity Capture-RNA), LRRC8E (Affinity Capture-MS), LRRC8E (Affinity Capture-MS), LRRC8E (Two-hybrid), LRRC8E (Two-hybrid), LRRC8E (Affinity Capture-MS), LRRC8E (Affinity Capture-MS), DDHD2 (Affinity Capture-MS), DMD (Affinity Capture-MS), LRRC8E (Affinity Capture-MS), TRMT6 (Affinity Capture-MS), LRRC8E (Affinity Capture-MS), LRRC8E (Affinity Capture-MS), LRRC8E (Affinity Capture-MS)

ESM2 similar proteins: A0JM56, A0JPI9, A4IHG1, A5PK13, D3YY91, F1ND48, O35125, Q13309, Q15813, Q24K06, Q32KP2, Q32KS0, Q32L08, Q32NT4, Q3KQF4, Q3KRC6, Q3UGP9, Q498T9, Q4U2V3, Q5BKY1, Q5DU41, Q5FVQ9, Q5PQJ7, Q5QJ74, Q5R8X9, Q5RBD9, Q5U378, Q66JT1, Q68F79, Q6GQN5, Q6NSJ5, Q6NU09, Q6P9F7, Q6WRX3, Q6ZNQ3, Q8C5W3, Q8CDN9, Q8CIV8, Q8IY45, Q8IZ02

Diamond homologs: A5PK13, Q3KRC6, Q498T9, Q4V8I7, Q5DU41, Q5U308, Q66JT1, Q68F79, Q6NSJ5, Q6NU09, Q6P9F7, Q7L1W4, Q80WG5, Q8BGR2, Q8IWT6, Q8R502, Q8TDW0, A6NIV6, Q9Z1S7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 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 term	Partners	Fold	FDR
monoatomic ion transmembrane transport	5	11.4×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	162
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

443 predictions. Top by Δscore:

Variant	Effect	Δscore
19:7888601:G:GG	donor_gain	1.0000
19:7888605:G:GG	donor_gain	1.0000
19:7895597:A:AG	acceptor_gain	1.0000
19:7895598:G:GG	acceptor_gain	1.0000
19:7895598:GGCA:G	acceptor_gain	1.0000
19:7895738:CCAGG:C	donor_loss	1.0000
19:7895739:CAGG:C	donor_loss	1.0000
19:7895740:AGGTG:A	donor_loss	1.0000
19:7895741:GGT:G	donor_loss	1.0000
19:7895742:G:A	donor_loss	1.0000
19:7895743:T:G	donor_loss	1.0000
19:7898656:CTCA:C	acceptor_loss	1.0000
19:7898657:TCA:T	acceptor_loss	1.0000
19:7898658:CA:C	acceptor_loss	1.0000
19:7888596:GAACG:G	donor_gain	0.9900
19:7888603:GA:G	donor_gain	0.9900
19:7895584:C:A	acceptor_gain	0.9900
19:7895589:C:A	acceptor_gain	0.9900
19:7895596:CA:C	acceptor_loss	0.9900
19:7895597:AG:A	acceptor_gain	0.9900
19:7895598:G:A	acceptor_loss	0.9900
19:7895598:GG:G	acceptor_gain	0.9900
19:7895598:GGC:G	acceptor_gain	0.9900
19:7895742:G:GG	donor_gain	0.9900
19:7898659:A:AG	acceptor_gain	0.9900
19:7898660:G:GG	acceptor_gain	0.9900
19:7888598:ACG:A	donor_gain	0.9800
19:7888599:CG:C	donor_gain	0.9800
19:7888600:GG:G	donor_gain	0.9800
19:7888602:TGA:T	donor_gain	0.9800

AlphaMissense

5171 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:7895673:T:A	W24R	1.000
19:7895673:T:C	W24R	1.000
19:7898682:T:C	C54R	1.000
19:7898684:T:G	C54W	1.000
19:7898838:T:A	C106S	1.000
19:7898839:G:C	C106S	1.000
19:7898840:T:G	C106W	1.000
19:7899003:T:A	W161R	1.000
19:7899003:T:C	W161R	1.000
19:7899672:T:C	F384L	1.000
19:7899673:T:C	F384S	1.000
19:7899674:C:A	F384L	1.000
19:7899674:C:G	F384L	1.000
19:7895675:G:C	W24C	0.999
19:7895675:G:T	W24C	0.999
19:7895718:G:A	G39R	0.999
19:7895718:G:C	G39R	0.999
19:7895718:G:T	G39W	0.999
19:7895719:G:A	G39E	0.999
19:7895727:G:C	G42R	0.999
19:7895728:G:A	G42D	0.999
19:7898682:T:A	C54S	0.999
19:7898683:G:A	C54Y	0.999
19:7898683:G:C	C54S	0.999
19:7898838:T:C	C106R	0.999
19:7898839:G:A	C106Y	0.999
19:7898839:G:T	C106F	0.999
19:7898878:C:G	P119R	0.999
19:7898928:T:A	W136R	0.999
19:7898928:T:C	W136R	0.999

dbSNP variants (sampled 300 via entrez): RS1000496015 (19:7895972 C>G), RS1000497819 (19:7896815 G>A,T), RS1000700426 (19:7901431 A>G), RS1000749971 (19:7892044 C>A,T), RS1001135369 (19:7901693 A>G), RS1001234161 (19:7887099 A>C), RS1001266645 (19:7887423 T>A,C), RS1001327798 (19:7895338 A>C), RS1001578053 (19:7898090 G>A), RS1001842879 (19:7892870 G>A), RS1001990718 (19:7886640 C>T), RS1002126980 (19:7890262 T>G), RS1002236748 (19:7888520 C>T), RS1002371792 (19:7896296 G>A,C,T), RS1002416640 (19:7901158 G>A,C)

Disease associations

OMIM: gene MIM:612891 | 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)

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

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases methylation, affects methylation, increases expression	5
Valproic Acid	increases methylation, affects cotreatment, increases expression	3
entinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
trichostatin A	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	affects cotreatment, increases methylation	1
Temozolomide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	increases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Coumestrol	decreases expression	1
Estradiol	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Sodium Dodecyl Sulfate	increases expression	1
Dronabinol	decreases expression	1
Urethane	increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	affects expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases 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