WWC2

Summary

WWC2 (WW and C2 domain containing 2, HGNC:24148) is a protein-coding gene on chromosome 4q35.1, encoding Protein WWC2 (Q6AWC2). Regulator of the Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway.

This gene encodes a member of the WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling.

Source: NCBI Gene 80014 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 194 total
• MANE Select transcript: NM_024949

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24148
Approved symbol	WWC2
Name	WW and C2 domain containing 2
Location	4q35.1
Locus type	gene with protein product
Status	Approved
Aliases	BOMB, FLJ22029
Ensembl gene	ENSG00000151718
Ensembl biotype	protein_coding
OMIM	620110
Entrez	80014

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 15 protein_coding, 3 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000403733, ENST00000427431, ENST00000438543, ENST00000448232, ENST00000504005, ENST00000506225, ENST00000508614, ENST00000508747, ENST00000513834, ENST00000515284, ENST00000908018, ENST00000908019, ENST00000908020, ENST00000937081, ENST00000937082, ENST00000937083, ENST00000937084, ENST00000937085, ENST00000962605, ENST00000962606

RefSeq mRNA: 2 — MANE Select: NM_024949 NM_001410864, NM_024949

CCDS: CCDS34109, CCDS93674

Canonical transcript exons

ENST00000403733 — 23 exons

Exon	Start	End
ENSE00001834556	183099257	183099622
ENSE00001930616	183315663	183320777
ENSE00002217287	183208949	183209025
ENSE00003460883	183282708	183282906
ENSE00003461542	183268971	183269163
ENSE00003462090	183260910	183261532
ENSE00003488747	183312341	183312468
ENSE00003490780	183289393	183289635
ENSE00003496071	183280776	183280897
ENSE00003527619	183207953	183208156
ENSE00003535885	183249920	183249993
ENSE00003539986	183253757	183253999
ENSE00003561494	183265865	183265951
ENSE00003563168	183265688	183265768
ENSE00003564092	183271080	183271241
ENSE00003567224	183248714	183248860
ENSE00003614992	183264978	183265107
ENSE00003633241	183284226	183284390
ENSE00003636886	183245416	183245545
ENSE00003648321	183193599	183193708
ENSE00003666532	183240183	183240262
ENSE00003679720	183285967	183286059
ENSE00003680983	183259639	183259728

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 94.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.8526 / max 320.4693, expressed in 1715 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
50781	13.0356	1680
50780	5.3194	1451
50779	0.4976	244

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
renal medulla	UBERON:0000362	94.84	gold quality
sural nerve	UBERON:0015488	93.67	gold quality
lower lobe of lung	UBERON:0008949	93.20	gold quality
secondary oocyte	CL:0000655	90.17	gold quality
calcaneal tendon	UBERON:0003701	90.00	gold quality
pigmented layer of retina	UBERON:0001782	89.99	gold quality
right lung	UBERON:0002167	89.85	gold quality
lung	UBERON:0002048	88.98	gold quality
stromal cell of endometrium	CL:0002255	88.46	gold quality
upper lobe of lung	UBERON:0008948	88.19	gold quality
caput epididymis	UBERON:0004358	88.03	gold quality
heart right ventricle	UBERON:0002080	88.02	gold quality
upper lobe of left lung	UBERON:0008952	87.92	gold quality
corpus callosum	UBERON:0002336	87.81	gold quality
ventricular zone	UBERON:0003053	86.86	gold quality
metanephros cortex	UBERON:0010533	86.65	gold quality
left lobe of thyroid gland	UBERON:0001120	86.45	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.42	gold quality
thyroid gland	UBERON:0002046	86.06	gold quality
right lobe of thyroid gland	UBERON:0001119	85.99	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.84	gold quality
liver	UBERON:0002107	85.49	gold quality
right lobe of liver	UBERON:0001114	85.44	gold quality
mammary duct	UBERON:0001765	85.33	gold quality
pericardium	UBERON:0002407	85.28	gold quality
tendon	UBERON:0000043	85.23	gold quality
tibial nerve	UBERON:0001323	84.99	gold quality
left ovary	UBERON:0002119	84.86	gold quality
visceral pleura	UBERON:0002401	84.83	gold quality
thoracic aorta	UBERON:0001515	84.63	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.02
E-GEOD-130148	yes	5.12
E-MTAB-6524	no	200.35
E-MTAB-7303	no	61.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

267 targeting WWC2, 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-5692A	100.00	74.40	6850
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-146A-5P	99.96	68.93	988

Literature-anchored findings (GeneRIF, showing 3)

• WWC2 functions as a tumor suppressor by negatively regulating the Hippo signaling pathway and may serve as a prognostic marker in hepatocellular carcinoma. (PMID:28815883)
• miR-21-5p promotes lung adenocarcinoma cell proliferation, migration and invasion via targeting WWC2. (PMID:32623387)
• WWC2 expression in the testis: Implications for spermatogenesis and male fertility. (PMID:37086090)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Wwc2	ENSMUSG00000031563
rattus_norvegicus	Wwc2	ENSRNOG00000013248
drosophila_melanogaster	kibra	FBGN0262127

Paralogs (2): WWC3 (ENSG00000047644), WWC1 (ENSG00000113645)

Protein

Protein identifiers

Protein WWC2 — Q6AWC2 (reviewed: Q6AWC2)

Alternative names: BH-3-only member B, WW domain-containing protein 2

All UniProt accessions (3): Q6AWC2, D6R9P8, F8WET3

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of the Hippo signaling pathway, also known as the Salvador-Warts-Hippo (SWH) pathway. Enhances phosphorylation of LATS1 and YAP1 and negatively regulates cell proliferation and organ growth due to a suppression of the transcriptional activity of YAP1, the major effector of the Hippo pathway.

Subunit / interactions. Forms homodimers and heterodimers with WWC1 and WWC3. Interacts with DLC1 and PRKCZ. Interacts (via WW domains) with LATS1 and LATS2.

Subcellular location. Cytoplasm. Cytosol.

Similarity. Belongs to the WWC family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q6AWC2-1	1	yes
Q6AWC2-2	2
Q6AWC2-3	3
Q6AWC2-4	4
Q6AWC2-5	5
Q6AWC2-6	6
Q6AWC2-7	7

RefSeq proteins (2): NP_001397793, NP_079225* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR001202	WW_dom	Domain
IPR035892	C2_domain_sf	Homologous_superfamily
IPR036020	WW_dom_sf	Homologous_superfamily
IPR037771	C2_WWC	Domain
IPR051105	WWC/KIBRA_Hippo_Reg	Family
IPR057747	WWC1_hairpin	Domain

Pfam: PF00397, PF25802

UniProt features (36 total): splice variant 7, coiled-coil region 5, sequence variant 5, region of interest 5, compositionally biased region 4, domain 3, modified residue 3, sequence conflict 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6AWC2-F1	61.86	0.18

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 (3): 286, 1004, 1022

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 157 (showing top): BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, GOBP_HIPPO_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_ORGAN_GROWTH, GOBP_NEGATIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS, GOBP_REGULATION_OF_ORGAN_GROWTH, chr4q35, GOBP_ORGAN_GROWTH, GUO_HEX_TARGETS_UP, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, CUI_TCF21_TARGETS_2_DN, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN

GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of DNA-templated transcription (GO:0006355), negative regulation of cell population proliferation (GO:0008285), cell migration (GO:0016477), hippo signaling (GO:0035329), regulation of hippo signaling (GO:0035330), negative regulation of hippo signaling (GO:0035331), negative regulation of organ growth (GO:0046621)

GO Molecular Function (4): kinase binding (GO:0019900), signaling adaptor activity (GO:0035591), molecular adaptor activity (GO:0060090), protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hippo signaling	2
binding	2
cellular anatomical structure	2
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
cell motility	1
intracellular signal transduction	1
regulation of intracellular signal transduction	1
regulation of hippo signaling	1
negative regulation of intracellular signal transduction	1
organ growth	1
regulation of organ growth	1
negative regulation of developmental growth	1
negative regulation of multicellular organismal process	1
enzyme binding	1
protein-macromolecule adaptor activity	1
molecular_function	1
intracellular anatomical structure	1
cytoplasm	1

Protein interactions and networks

STRING

552 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
WWC2	LATS1	O95835	648
WWC2	FRMD1	Q8N878	525
WWC2	AMOT	Q4VCS5	486
WWC2	CDKN2AIP	Q9NXV6	461
WWC2	DYNLL1	P63167	448
WWC2	TMEM145	Q8NBT3	427
WWC2	C2CD3	Q4AC94	415
WWC2	MOB1B	Q7L9L4	395
WWC2	FAM149A	A5PLN7	394
WWC2	LATS2	Q9NRM7	389
WWC2	FRMD6	Q96NE9	380
WWC2	TRAPPC11	Q7Z392	371
WWC2	NF2	P35240	360
WWC2	ITSN2	Q9NZM3	349
WWC2	TEX13D	A0A0J9YY54	337

IntAct

46 interactions, top by confidence:

A	B	Type	Score
ARMC8	HTRA2	psi-mi:“MI:0914”(association)	0.750
DYNLL1	BLTP3B	psi-mi:“MI:0914”(association)	0.730
RHPN1	PODXL	psi-mi:“MI:0914”(association)	0.690
YWHAG	BLTP3B	psi-mi:“MI:2364”(proximity)	0.640
DYNLL2	BLTP3B	psi-mi:“MI:0914”(association)	0.640
INAVA	CYTH3	psi-mi:“MI:0914”(association)	0.640
TSPYL1	PCM1	psi-mi:“MI:0914”(association)	0.640
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
YWHAB	BLTP3B	psi-mi:“MI:2364”(proximity)	0.610
YWHAH	BLTP3B	psi-mi:“MI:2364”(proximity)	0.570
YWHAZ	WWC2	psi-mi:“MI:0915”(physical association)	0.560
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
LDLRAD4	WWP2	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
YWHAQ	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
WWC2	ENTREP1	psi-mi:“MI:0915”(physical association)	0.370
REPS1	WWC2	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
E7	RB1	psi-mi:“MI:0914”(association)	0.350
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
PTPN21	PFDN6	psi-mi:“MI:0914”(association)	0.350
YWHAB	BRAF	psi-mi:“MI:0914”(association)	0.350
YWHAE	DEPDC5	psi-mi:“MI:0914”(association)	0.350
YWHAG	BRAF	psi-mi:“MI:0914”(association)	0.350

BioGRID (55): WWC2 (Affinity Capture-MS), WWC2 (Two-hybrid), WWC2 (Two-hybrid), WWC3 (Two-hybrid), PRKCA (Affinity Capture-Western), LATS2 (Affinity Capture-Western), LATS1 (Affinity Capture-Western), WWC2 (Affinity Capture-Western), WWC2 (Affinity Capture-Western), WWC2 (Affinity Capture-Western), WWC2 (Affinity Capture-Western), WWC2 (Affinity Capture-MS), WWC2 (Affinity Capture-MS), WWC2 (Affinity Capture-MS), WWC2 (Affinity Capture-MS)

ESM2 similar proteins: A4IIJ3, B3LWS4, B3P3M8, B4HEJ6, B4K6I9, B4K6T8, B4M5X4, B4PSQ2, D4AEC2, E7FDW2, O35711, P11929, P25054, P68907, P70039, P70478, P97434, Q08AD1, Q12923, Q13009, Q2TLY2, Q5SXA9, Q60610, Q61315, Q64512, Q69ZS0, Q69ZW3, Q6AWC2, Q6DJR2, Q6IRN6, Q6NXJ0, Q6PD31, Q6ZMN7, Q86SQ0, Q86W92, Q8C1B1, Q8C8U0, Q8CIS0, Q8IX03, Q8ND30

Diamond homologs: A0A8C0NGY6, A0A8I3PQN6, A1A5G4, A1CQG2, A1D3C5, A2QQ28, A4IIJ3, B0XQ72, B3LWS4, B3P3M8, B4HEJ6, B4K6I9, B4M5X4, B4NAD3, B4PSQ2, B8N7E5, D6C652, G0S9J5, H2LBU8, O14326, O88382, P39940, P46934, P46935, P46936, P46937, P46938, Q0CCL1, Q19404, Q1L8J7, Q2EJA0, Q2UBP1, Q32NJ6, Q45VV3, Q4L1J4, Q4WTF3, Q54T86, Q5BDP1, Q5F488, Q5RBF2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 40 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.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	7	183.8×	3e-13
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	162.2×	4e-13
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	162.2×	4e-13
Activation of BH3-only proteins	7	119.8×	4e-12
RHO GTPases activate PKNs	7	76.6×	9e-11
Intrinsic Pathway for Apoptosis	7	70.7×	1e-10
FOXO-mediated transcription	5	57.9×	3e-07
SARS-CoV-1-host interactions	8	48.5×	9e-11

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	50.9×	7e-06
intracellular protein localization	7	20.4×	7e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	159
Likely benign	8
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

5868 predictions. Top by Δscore:

Variant	Effect	Δscore
4:183099593:G:GT	donor_gain	1.0000
4:183173780:G:GT	donor_gain	1.0000
4:183176191:A:T	donor_gain	1.0000
4:183176928:C:G	donor_gain	1.0000
4:183190291:G:GT	donor_gain	1.0000
4:183190306:T:G	donor_gain	1.0000
4:183208132:G:GT	donor_gain	1.0000
4:183208138:TC:T	donor_gain	1.0000
4:183208152:AAGCT:A	donor_gain	1.0000
4:183208153:AGCT:A	donor_gain	1.0000
4:183208154:GCT:G	donor_gain	1.0000
4:183208154:GCTG:G	donor_gain	1.0000
4:183208155:CT:C	donor_gain	1.0000
4:183208156:TGT:T	donor_loss	1.0000
4:183208157:G:A	donor_loss	1.0000
4:183208157:G:GG	donor_gain	1.0000
4:183208158:TAA:T	donor_loss	1.0000
4:183208159:AA:A	donor_loss	1.0000
4:183208160:AGTA:A	donor_loss	1.0000
4:183208943:T:G	acceptor_gain	1.0000
4:183208944:A:AG	acceptor_gain	1.0000
4:183208945:A:G	acceptor_gain	1.0000
4:183208947:A:G	acceptor_gain	1.0000
4:183240178:TAAA:T	acceptor_loss	1.0000
4:183240181:A:T	acceptor_loss	1.0000
4:183240258:CAGCA:C	donor_gain	1.0000
4:183240260:GCA:G	donor_gain	1.0000
4:183240263:G:GG	donor_gain	1.0000
4:183259637:A:AG	acceptor_gain	1.0000
4:183259637:AGATT:A	acceptor_gain	1.0000

AlphaMissense

7791 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:183099537:T:A	W16R	1.000
4:183099537:T:C	W16R	1.000
4:183099539:G:C	W16C	1.000
4:183099539:G:T	W16C	1.000
4:183099603:T:A	W38R	1.000
4:183099603:T:C	W38R	1.000
4:183099605:G:C	W38C	1.000
4:183099605:G:T	W38C	1.000
4:183193654:T:A	W63R	1.000
4:183193654:T:C	W63R	1.000
4:183099538:G:C	W16S	0.999
4:183099570:T:C	F27L	0.999
4:183099572:C:A	F27L	0.999
4:183099572:C:G	F27L	0.999
4:183099573:T:G	Y28D	0.999
4:183099612:C:T	P41S	0.999
4:183099613:C:A	P41H	0.999
4:183193646:C:A	P60Q	0.999
4:183193656:G:C	W63C	0.999
4:183193656:G:T	W63C	0.999
4:183099546:G:C	A19P	0.998
4:183099562:G:T	G24V	0.998
4:183099571:T:C	F27S	0.998
4:183099577:T:A	I29N	0.998
4:183099582:C:G	H31D	0.998
4:183099600:A:C	S37R	0.998
4:183099602:C:A	S37R	0.998
4:183099602:C:G	S37R	0.998
4:183099604:G:C	W38S	0.998
4:183099610:A:G	D40G	0.998

dbSNP variants (sampled 300 via entrez): RS1000015379 (4:183121949 C>G), RS1000029665 (4:183230502 C>A,T), RS1000040175 (4:183317850 G>C,T), RS1000044530 (4:183237186 T>G), RS1000046115 (4:183275912 T>C), RS1000055175 (4:183154775 A>T), RS1000061093 (4:183308460 T>A), RS1000069891 (4:183180065 G>A), RS10000916 (4:183287804 C>T), RS1000107018 (4:183204525 G>A), RS1000117698 (4:183204549 T>C), RS1000123222 (4:183156629 G>A,T), RS1000147376 (4:183146798 C>A), RS1000160670 (4:183112171 A>G), RS1000163621 (4:183101218 C>T)

Disease associations

OMIM: gene MIM:620110 | 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

7 associations (top):

Study	Trait	p-value
GCST000817_170	Height	4.000000e-08
GCST002337_5	Amyotrophic lateral sclerosis (sporadic)	8.000000e-06
GCST006633_10	Initial alcohol sensitivity	3.000000e-06
GCST006979_761	Heel bone mineral density	1.000000e-11
GCST008163_472	Height	5.000000e-07
GCST90000025_296	Appendicular lean mass	1.000000e-15
GCST90011899_54	Aspartate aminotransferase levels	1.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0009270	heel bone mineral density
EFO:0004980	appendicular lean mass
EFO:0004736	aspartate aminotransferase measurement

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

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	3
Cisplatin	decreases expression, affects cotreatment	2
Valproic Acid	decreases methylation, increases expression	2
Aflatoxin B1	decreases expression, decreases methylation	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
biochanin A	decreases expression	1
chloroacetaldehyde	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases methylation	1
sodium arsenite	increases expression	1
coumarin	increases phosphorylation	1
methacrylaldehyde	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Rosiglitazone	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Cidofovir	decreases expression	1
Acrolein	affects cotreatment, decreases expression	1
Vehicle Emissions	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases expression	1
Carbamazepine	affects expression	1
Coumestrol	decreases expression	1
Clodronic Acid	decreases expression	1
Ifosfamide	decreases expression	1
Oxygen	increases expression	1
Ozone	affects cotreatment, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B2LJ	Abcam HeLa WWC2 KO	Cancer cell line	Female

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