PKD1L2

Summary

PKD1L2 (polycystin 1 like 2 (gene/pseudogene), HGNC:21715) is a protein-coding gene on chromosome 16q23.2, encoding Polycystin-1-like protein 2 (Q7Z442). May function as a G-protein-coupled receptor.

This gene encodes a member of the polycystin protein family. This protein may function as a G-protein-coupled component or regulator of cation channel pores. The long isoform of this protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. This gene is a polymorphic pseudogene in humans.

Source: NCBI Gene 114780 — RefSeq curated summary.

At a glance

• GWAS associations: 18
• Clinical variants (ClinVar): 539 total — 1 likely-pathogenic

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21715
Approved symbol	PKD1L2
Name	polycystin 1 like 2 (gene/pseudogene)
Location	16q23.2
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1879
Ensembl gene	ENSG00000166473
Ensembl biotype	protein_coding
OMIM	607894
Entrez	114780

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 4 retained_intron, 4 protein_coding, 2 protein_coding_LoF, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000299598, ENST00000525539, ENST00000526632, ENST00000527937, ENST00000529079, ENST00000529791, ENST00000530363, ENST00000531391, ENST00000533478, ENST00000534142, ENST00000534447, ENST00000710634, ENST00000715690

RefSeq mRNA: 0 — MANE Select: None

CCDS: CCDS61999

Canonical transcript exons

ENST00000299598 — 25 exons

Exon	Start	End
ENSE00001611826	81130081	81130644
ENSE00001806613	81164644	81165963
ENSE00003463259	81151767	81151913
ENSE00003465348	81175605	81175750
ENSE00003465749	81170943	81171074
ENSE00003484368	81153961	81154139
ENSE00003498037	81159624	81159817
ENSE00003542257	81177807	81177983
ENSE00003546325	81148140	81148357
ENSE00003546918	81174720	81174914
ENSE00003551442	81147298	81147514
ENSE00003552206	81149690	81149889
ENSE00003558881	81185492	81185699
ENSE00003578111	81137437	81137533
ENSE00003583877	81141297	81141525
ENSE00003589462	81154237	81154338
ENSE00003591907	81139508	81139712
ENSE00003593137	81160683	81160905
ENSE00003641117	81188881	81188998
ENSE00003646767	81179645	81179786
ENSE00003654157	81167919	81168101
ENSE00003661504	81133563	81133700
ENSE00003663708	81163600	81163731
ENSE00003682306	81156859	81157089
ENSE00003690720	81181151	81181271

Expression profiles

Bgee: expression breadth ubiquitous, 156 present calls, max score 89.37.

FANTOM5 (CAGE): breadth broad, TPM avg 0.7927 / max 33.5909, expressed in 348 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158274	0.6201	280
158273	0.0944	45
158275	0.0440	24
158272	0.0209	12
158276	0.0132	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
seminal vesicle	UBERON:0000998	89.37	gold quality
apex of heart	UBERON:0002098	87.22	gold quality
subcutaneous adipose tissue	UBERON:0002190	82.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.72	gold quality
adipose tissue of abdominal region	UBERON:0007808	81.12	gold quality
omental fat pad	UBERON:0010414	81.09	gold quality
peritoneum	UBERON:0002358	81.01	gold quality
adipose tissue	UBERON:0001013	80.82	gold quality
right atrium auricular region	UBERON:0006631	80.75	gold quality
cardiac atrium	UBERON:0002081	80.19	gold quality
upper leg skin	UBERON:0004262	77.34	gold quality
heart left ventricle	UBERON:0002084	76.89	gold quality
cardiac ventricle	UBERON:0002082	75.91	gold quality
skin of abdomen	UBERON:0001416	75.52	gold quality
heart	UBERON:0000948	74.26	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	72.93	silver quality
mucosa of stomach	UBERON:0001199	72.86	gold quality
skin of hip	UBERON:0001554	71.23	gold quality
putamen	UBERON:0001874	70.99	gold quality
endometrium	UBERON:0001295	70.89	gold quality
ectocervix	UBERON:0012249	70.56	gold quality
endocervix	UBERON:0000458	70.11	gold quality
zone of skin	UBERON:0000014	69.72	gold quality
left ovary	UBERON:0002119	69.38	gold quality
right lobe of thyroid gland	UBERON:0001119	69.36	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	69.35	gold quality
skin of leg	UBERON:0001511	69.06	gold quality
right lobe of liver	UBERON:0001114	68.96	gold quality
buccal mucosa cell	CL:0002336	68.87	silver quality
amygdala	UBERON:0001876	68.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting PKD1L2, 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-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-363-5P	99.46	64.51	1015
HSA-MIR-7151-5P	99.37	67.82	613
HSA-MIR-361-3P	99.19	66.45	1381
HSA-MIR-4520-2-3P	99.14	69.28	1009
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-7851-3P	98.72	64.88	980
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-5089-5P	98.45	66.06	1388
HSA-MIR-7850-5P	98.12	67.28	1111
HSA-MIR-4433A-3P	97.75	62.82	1435
HSA-MIR-1285-3P	97.72	67.02	1932

Literature-anchored findings (GeneRIF, showing 4)

• genes are mapped to chromosomes and gene structures are characterized; protein structure is predicted and contains strong ion channel signature motifs that suggest their possible function as components of cation channel pores (PMID:12782129)
• PKD1L2 is expressed in the developing and adult heart and kidney. (PMID:15203210)
• Ectopic expression of PKD1L2 in transgenic mice caused severe muscle atrophy. (PMID:19578180)
• Study found an association between a 6.2 kb dele- tion in the PKD1L2 gene and colorectal cancer in a Korean population. (PMID:27605020)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	pkd1a	ENSDARG00000030417
danio_rerio	pkd1l2b	ENSDARG00000088121
danio_rerio	pkd1l2b	ENSDARG00000101214
danio_rerio	pkd1l2a	ENSDARG00000105344
mus_musculus	Pkd1l2	ENSMUSG00000034416
rattus_norvegicus	Pkd1l2	ENSRNOG00000045626
drosophila_melanogaster	Pkd2	FBGN0041195
caenorhabditis_elegans		WBGENE00004035

Paralogs (10): PKD1 (ENSG00000008710), PKD2L2 (ENSG00000078795), PKD2L1 (ENSG00000107593), PKD2 (ENSG00000118762), PKDREJ (ENSG00000130943), PKD1L1 (ENSG00000158683), LOXHD1 (ENSG00000167210), DENND5B (ENSG00000170456), DENND5A (ENSG00000184014), PKD1L3 (ENSG00000277481)

Protein

Protein identifiers

Polycystin-1-like protein 2 — Q7Z442 (reviewed: Q7Z442)

Alternative names: PC1-like 2 protein, Polycystic kidney disease protein 1-like 2

All UniProt accessions (4): A0AA34QW06, A0AAQ5BIK0, Q7Z442, H0YEQ7

UniProt curated annotations — full annotation on UniProt →

Function. May function as a G-protein-coupled receptor.

Subunit / interactions. May interact via its C-terminus with GNAS and GNAI1.

Subcellular location. Membrane.

Tissue specificity. Expressed in all tissues tested including brain, placenta, mammary gland, testis, lung and liver. Highest expression in skeletal muscle. Isoform 2 is expressed in heart and kidney.

Post-translational modifications. Autoproteolytically processed at the GPS region of the GAIN-B domain; this cleavage modulates receptor activity.

Similarity. Belongs to the polycystin family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q7Z442-1	1	yes
Q7Z442-2	2, Long isoform
Q7Z442-3	3
Q7Z442-4	4
Q7Z442-6	6

RefSeq proteins (0): (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000203	GPS	Conserved_site
IPR000922	Lectin_gal-bd_dom	Domain
IPR001024	PLAT/LH2_dom	Domain
IPR001304	C-type_lectin-like	Domain
IPR002859	PKD/REJ-like	Domain
IPR003915	PKD_2	Family
IPR013122	PKD1_2_channel	Domain
IPR014010	REJ_dom	Domain
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR036392	PLAT/LH2_dom_sf	Homologous_superfamily
IPR042060	PLAT_polycystin1	Domain
IPR043159	Lectin_gal-bd_sf	Homologous_superfamily
IPR046338	GAIN_dom_sf	Homologous_superfamily
IPR046791	Polycystin_dom	Domain
IPR051223	Polycystin	Family
IPR057244	GAIN_B	Domain

Pfam: PF00059, PF01477, PF01825, PF02010, PF02140, PF08016, PF20519

UniProt features (116 total): sequence variant 51, topological domain 13, transmembrane region 12, sequence conflict 8, glycosylation site 8, splice variant 6, domain 5, region of interest 5, disulfide bond 4, signal peptide 1, chain 1, compositionally biased region 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z442-F1	71.44	0.03

Functional residue map

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

Catalytic / active sites (1): 1315–1316 (cleavage; by autolysis)

Disulfide bonds (4): 56–152, 128–144, 1282–1310, 1297–1312

Glycosylation sites (8): 96, 110, 268, 307, 441, 536, 1176, 1186

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 70 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_DETECTION_OF_MECHANICAL_STIMULUS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, GOBP_RESPONSE_TO_MECHANICAL_STIMULUS, GOMF_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_PASSIVE_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_MONOATOMIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, THUM_SYSTOLIC_HEART_FAILURE_DN, GOMF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_TRANSPORTER_ACTIVITY

GO Biological Process (4): detection of mechanical stimulus (GO:0050982), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220), calcium ion transmembrane transport (GO:0070588)

GO Molecular Function (3): calcium channel activity (GO:0005262), calcium ion binding (GO:0005509), carbohydrate binding (GO:0030246)

GO Cellular Component (3): membrane (GO:0016020), endomembrane system (GO:0012505), intracellular vesicle (GO:0097708)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
detection of external stimulus	1
detection of abiotic stimulus	1
response to mechanical stimulus	1
transport	1
monoatomic ion transport	1
transmembrane transport	1
calcium ion transport	1
monoatomic cation transmembrane transport	1
monoatomic cation channel activity	1
calcium ion transmembrane transporter activity	1
metal ion binding	1
binding	1
vacuole	1
plasma membrane	1
intracellular anatomical structure	1
vesicle	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

7 interactions, top by confidence:

A	B	Type	Score
PKD1L2	SYNCRIP	psi-mi:“MI:0915”(physical association)	0.400
PKD1L2	MAP3K7	psi-mi:“MI:0914”(association)	0.350
PKD1L2	RAD50	psi-mi:“MI:0914”(association)	0.350
INSR	UBXN8	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
MTNR1A	PKD1L2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (22): PKD1L2 (Biochemical Activity), PKD1L2 (Two-hybrid), PKD1L2 (Protein-RNA), PKD1L2 (Proximity Label-MS), PKD1L2 (Affinity Capture-RNA), TRIM65 (Affinity Capture-MS), KIF11 (Affinity Capture-MS), RAB3GAP1 (Affinity Capture-MS), RAD50 (Affinity Capture-MS), MICU1 (Affinity Capture-MS), ALMS1 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), LOC81691 (Affinity Capture-MS), TAB2 (Affinity Capture-MS), MICU2 (Affinity Capture-MS)

ESM2 similar proteins: A0A140LHF2, A6H8M9, A7LCJ3, A8E0Y8, D3YX43, D3YZF7, O14498, O15197, O70394, O70540, P01877, P0C0K6, P0C788, P0DP72, P35590, P40223, P43121, P50895, P70289, Q00657, Q06418, Q06805, Q15109, Q28173, Q5BK54, Q5NVQ6, Q5TJE4, Q61790, Q61826, Q62151, Q62230, Q63495, Q64612, Q6UVK1, Q6UWB1, Q7Z442, Q86VR7, Q8IZF5, Q8R2Y2, Q8VHY0

Diamond homologs: A1Z7G7, B3MFV7, B3N8M1, B4GD14, B4HS00, B4J780, B4KMZ1, B4LNA8, B4P3A0, C0HK23, C0HK24, P22031, P86177, P86178, P86179, Q292N4, Q7TN88, Q7Z442, Q9PVW8, P58659, Q8VEC3, G5EDW2, O88917, O88923, O94910, O95490, O97817, O97827, O97831, Q0INM3, Q80TR1, Q80TS3, Q8JZZ7, Q9HAR2, Q9SCV3, Q9Z173, A2RSQ0, B8UU59, C8YR32, E7FKV8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	460
Likely benign	40
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3250395	NM_052892.5(PKD1L2):c.6431C>G (p.Thr2144Ser)	Likely pathogenic

SpliceAI

7204 predictions. Top by Δscore:

Variant	Effect	Δscore
16:81108557:CTCA:C	donor_loss	1.0000
16:81108558:TCA:T	donor_loss	1.0000
16:81108559:CA:C	donor_loss	1.0000
16:81108561:C:A	donor_loss	1.0000
16:81108693:CCTG:C	acceptor_loss	1.0000
16:81108694:CT:C	acceptor_loss	1.0000
16:81108698:C:CT	acceptor_gain	1.0000
16:81109296:C:CC	acceptor_gain	1.0000
16:81112161:A:AC	donor_gain	1.0000
16:81112162:C:CC	donor_gain	1.0000
16:81112162:CCG:C	donor_gain	1.0000
16:81117369:A:AC	donor_gain	1.0000
16:81117369:ACT:A	donor_gain	1.0000
16:81117370:C:CC	donor_gain	1.0000
16:81117370:CTC:C	donor_gain	1.0000
16:81117374:T:TA	donor_gain	1.0000
16:81117375:C:CA	donor_gain	1.0000
16:81121580:CCTTA:C	donor_loss	1.0000
16:81121581:CTTA:C	donor_loss	1.0000
16:81121582:TTA:T	donor_loss	1.0000
16:81121583:TAC:T	donor_loss	1.0000
16:81121585:CCTGC:C	donor_loss	1.0000
16:81127755:CCTTA:C	donor_loss	1.0000
16:81127756:CTTA:C	donor_loss	1.0000
16:81127758:TACCT:T	donor_loss	1.0000
16:81127759:A:AC	donor_gain	1.0000
16:81127759:A:AG	donor_loss	1.0000
16:81127760:C:CA	donor_loss	1.0000
16:81127760:C:CC	donor_gain	1.0000
16:81128062:AAAGC:A	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000012069 (16:81135260 T>A,C), RS1000012593 (16:81185087 C>T), RS1000030369 (16:81149242 G>C), RS1000052278 (16:81167837 G>GA,GC,GT), RS1000091854 (16:81165120 G>A), RS1000131711 (16:81188650 T>C), RS1000147388 (16:81205480 T>A), RS1000148268 (16:81149399 A>C,G), RS1000164240 (16:81157186 G>A,C), RS1000171364 (16:81133239 A>G,T), RS1000173948 (16:81113919 C>G), RS1000185866 (16:81132327 C>G,T), RS1000229921 (16:81212041 A>G), RS1000237058 (16:81138779 C>T), RS1000237102 (16:81204727 C>A,T)

Disease associations

OMIM: gene MIM:607894 | disease phenotypes: MIM:611571

GenCC curated gene-disease

Mondo (2): long QT syndrome (MONDO:0002442), otosclerosis 4 (MONDO:0012696)

Orphanet (0):

HPO phenotypes

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

GWAS associations

18 associations (top):

Study	Trait	p-value
GCST000253_10	Attention deficit hyperactivity disorder and conduct disorder	7.000000e-06
GCST004049_32	Cough in response to angiotensin-converting enzyme inhibitor drugs	2.000000e-06
GCST004722_4	Left ventricular obstructive tract defect (maternal effect)	6.000000e-08
GCST005958_20	Waist-to-hip ratio adjusted for BMI (age >50)	4.000000e-06
GCST005962_30	Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test)	1.000000e-06
GCST007382_17	Plasma free amino acid levels (adjusted for twenty other PFAAs)	1.000000e-08
GCST007383_57	Plasma free amino acid levels (adjusted for one other PFAA)	8.000000e-08
GCST007383_58	Plasma free amino acid levels (adjusted for one other PFAA)	9.000000e-07
GCST007383_59	Plasma free amino acid levels (adjusted for one other PFAA)	4.000000e-06
GCST007383_60	Plasma free amino acid levels (adjusted for one other PFAA)	8.000000e-06
GCST007385_34	Plasma free amino acid levels	9.000000e-07
GCST009160_2	Carotenoid levels	7.000000e-11
GCST009160_3	Carotenoid levels	8.000000e-14
GCST009240_425	Serum metabolite levels (CMS)	2.000000e-12
GCST009242_393	Serum metabolite levels	1.000000e-09
GCST009698_37	Metabolite levels	2.000000e-11
GCST012020_471	Serum metabolite levels	4.000000e-23
GCST012020_472	Serum metabolite levels	8.000000e-15

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005325	response to angiotensin-converting enzyme inhibitor
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008007	age at assessment
EFO:0008343	sex interaction measurement
EFO:0005134	amino acid measurement
EFO:0009767	glycine measurement
EFO:0004737	carotenoid measurement
EFO:0007894	beta-carotene measurement
EFO:0007895	lutein measurement

MeSH disease descriptors (2)

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
C566914	Otosclerosis 4 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs16954698	PKD1L2		0.00	0

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, increases expression, decreases expression, affects cotreatment	3
Benzo(a)pyrene	affects methylation, decreases expression	3
mercuric bromide	increases expression, affects cotreatment	2
Cisplatin	decreases expression, affects expression	2
Valproic Acid	decreases expression, increases methylation	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
bisphenol F	affects cotreatment, decreases expression	1
sotorasib	decreases expression, affects cotreatment	1
dicrotophos	increases expression	1
bufotalin	increases expression	1
methyleugenol	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	affects expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	increases methylation	1
pentanal	decreases expression	1
polyhexamethyleneguanidine	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Decitabine	affects expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Cadmium	decreases expression, increases abundance	1
Dexamethasone	affects cotreatment, decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_YA75	IDG-HEK293T-PKD1L2-V5-OE	Transformed 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