PKD1L3

gene
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Summary

PKD1L3 (polycystin 1 like 3, transient receptor potential channel interacting, HGNC:21716) is a protein-coding gene on chromosome 16q22.2, encoding Polycystin-1-like protein 3 (Q7Z443). Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca(2+).

This gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a latrophilin/CL-1-like GPCR proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may function as a component of cation channel pores.

Source: NCBI Gene 342372 — RefSeq curated summary.

At a glance

  • GWAS associations: 20
  • Clinical variants (ClinVar): 307 total
  • MANE Select transcript: NM_181536

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:21716
Approved symbolPKD1L3
Namepolycystin 1 like 3, transient receptor potential channel interacting
Location16q22.2
Locus typegene with protein product
StatusApproved
Ensembl geneENSG00000277481
Ensembl biotypeprotein_coding
OMIM607895
Entrez342372

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000620267

RefSeq mRNA: 1 — MANE Select: NM_181536 NM_181536

CCDS: CCDS73912

Canonical transcript exons

ENST00000620267 — 30 exons

ExonStartEnd
ENSE000037145617199968472000402
ENSE000037174127198403671984167
ENSE000037174657196790671968007
ENSE000037180127194978371950017
ENSE000037188777193342071933521
ENSE000037190697198205971982235
ENSE000037191007193729271937419
ENSE000037196877194256071943024
ENSE000037245107195410571954301
ENSE000037247077197825571978383
ENSE000037282517197978671979912
ENSE000037284317195011871950310
ENSE000037293907193005271930183
ENSE000037294447193535871935518
ENSE000037328607196713771967315
ENSE000037331397196987571970105
ENSE000037336427195156471951744
ENSE000037355997197332471973517
ENSE000037364407192953871929678
ENSE000037371587195289471953093
ENSE000037385887198000771980134
ENSE000037391607199321671993332
ENSE000037393347194403071944170
ENSE000037434447193391571934125
ENSE000037467777199028071990329
ENSE000037485207197723671977467
ENSE000037495747199827271998394
ENSE000037523137196320571963351
ENSE000037540687198622171986469
ENSE000037546537194749271947591

Expression profiles

Bgee: expression breadth broad, 42 present calls, max score 68.65.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0586 / max 28.7461, expressed in 9 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter IDTPM avgSamples expressed
1580500.05439
1580510.00433

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047368.65silver quality
right lobe of liverUBERON:000111457.59gold quality
liverUBERON:000210756.29gold quality
bone marrow cellCL:000209252.33gold quality
sural nerveUBERON:001548849.87gold quality
right atrium auricular regionUBERON:000663149.84gold quality
bone marrowUBERON:000237148.65gold quality
pituitary glandUBERON:000000748.26gold quality
duodenumUBERON:000211448.26gold quality
olfactory segment of nasal mucosaUBERON:000538648.17gold quality
skeletal muscle tissueUBERON:000113447.51gold quality
stromal cell of endometriumCL:000225547.43gold quality
placentaUBERON:000198747.18gold quality
monocyteCL:000057647.01silver quality
leukocyteCL:000073846.37silver quality
adenohypophysisUBERON:000219646.24gold quality
muscle tissueUBERON:000238546.16gold quality
small intestineUBERON:000210846.07gold quality
lymph nodeUBERON:000002945.95silver quality
small intestine Peyer’s patchUBERON:000345445.20gold quality
bloodUBERON:000017844.99gold quality
omental fat padUBERON:001041444.92gold quality
tonsilUBERON:000237244.75gold quality
vermiform appendixUBERON:000115444.24silver quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099144.12silver quality
right adrenal gland cortexUBERON:003582742.77gold quality
adipose tissueUBERON:000101342.17gold quality
ganglionic eminenceUBERON:000402342.02gold quality
heartUBERON:000094841.94gold quality
mucosa of stomachUBERON:000119941.94silver quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3yes6.44

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 5)

  • 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)
  • the PKD2L1-PKD1L3 complex is involved in acid sensing in vivo (PMID:20406802)
  • Among the three gustatory regions innervated by peripheral gustatory neurons in the geniculate ganglion, transgenic Pkd1l3 is expressed in the foliate papillae, not in the fungiform papillae or palate. (PMID:21883212)
  • functions as a channel-forming subunit in an acid-sensing heteromeric complex formed by PKD1L3 and TRPP3 (PMID:23212381)
  • our study identified C1 as the first PKD2L1 domain essential for both PKD2L1 trimerization and channel function, and suggest that PKD2L1 and PKD2L1/PKD1L3 channels share the PKD2L1 trimerization process. (PMID:25820328)

Cross-species orthologs

9 orthologs

OrganismSymbolGene ID
danio_reriopkd1aENSDARG00000030417
danio_reriopkd1bENSDARG00000033029
danio_reriopkd1l2bENSDARG00000088121
danio_reriopkd1l2bENSDARG00000101214
danio_reriopkd1l2aENSDARG00000105344
mus_musculusPkd1l3ENSMUSG00000048827
rattus_norvegicusPkd1l3ENSRNOG00000052310
drosophila_melanogasterPkd2FBGN0041195
caenorhabditis_elegansWBGENE00004035

Paralogs (10): PKD1 (ENSG00000008710), PKD2L2 (ENSG00000078795), PKD2L1 (ENSG00000107593), PKD2 (ENSG00000118762), PKDREJ (ENSG00000130943), PKD1L1 (ENSG00000158683), PKD1L2 (ENSG00000166473), LOXHD1 (ENSG00000167210), DENND5B (ENSG00000170456), DENND5A (ENSG00000184014)

Protein

Protein identifiers

Polycystin-1-like protein 3Q7Z443 (reviewed: Q7Z443)

Alternative names: PC1-like 3 protein, Polycystic kidney disease protein 1-like 3

All UniProt accessions (1): Q7Z443

UniProt curated annotations — full annotation on UniProt →

Function. Pore-forming subunit of a heterotetrameric, non-selective cation channel that is permeable to Ca(2+). Also shows permeability towards NA(1+), K(+) and Mg(2+). Heterotetrameric complex channel is activated by external low pH and Ca(2+), but opens only when the extracellular pH rises again and after the removal of acid stimulus. May act as a sour taste receptor in gustatory cells; however, its contribution to sour taste perception is unclear in vivo and may be indirect.

Subunit / interactions. Heterotetramer with PKD2L1, composed of 3 subunit of PKD2L1 and 1 subunit of PKD1L3.

Subcellular location. Cell membrane.

Tissue specificity. Highly expressed in placenta, weakly in heart and lung.

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

Activity regulation. The non-selective cation channel is gated following an off-response property by acid: gated open after the removal of acid stimulus, but not during acid application. Regulation of non-selective cation channel activity by external Ca(2+) is bimodal, first sensitizing and subsequently inactivating the current.

Similarity. Belongs to the polycystin family.

RefSeq proteins (1): NP_853514* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR000203GPSConserved_site
IPR000434PC1Family
IPR001024PLAT/LH2_domDomain
IPR001304C-type_lectin-likeDomain
IPR013122PKD1_2_channelDomain
IPR016186C-type_lectin-like/link_sfHomologous_superfamily
IPR016187CTDL_foldHomologous_superfamily
IPR036392PLAT/LH2_dom_sfHomologous_superfamily
IPR042060PLAT_polycystin1Domain
IPR046338GAIN_dom_sfHomologous_superfamily
IPR051223PolycystinFamily
IPR057244GAIN_BDomain

Pfam: PF00059, PF01477, PF01825, PF08016

Catalyzed reactions (Rhea), 4 shown:

  • K(+)(in) = K(+)(out) (RHEA:29463)
  • Ca(2+)(in) = Ca(2+)(out) (RHEA:29671)
  • Mg(2+)(in) = Mg(2+)(out) (RHEA:29827)
  • Na(+)(in) = Na(+)(out) (RHEA:34963)

UniProt features (50 total): topological domain 12, transmembrane region 11, sequence variant 10, glycosylation site 5, disulfide bond 4, domain 3, region of interest 2, signal peptide 1, chain 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q7Z443-F165.180.04

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): 668–669 (cleavage; by autolysis)

Disulfide bonds (4): 51–137, 112–129, 635–663, 650–665

Glycosylation sites (5): 286, 363, 515, 537, 575

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 52 (showing top): chr16q22, GOCC_CELL_SURFACE, GOBP_SENSORY_PERCEPTION_OF_CHEMICAL_STIMULUS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_DETECTION_OF_MECHANICAL_STIMULUS, GOBP_DETECTION_OF_CHEMICAL_STIMULUS_INVOLVED_IN_SENSORY_PERCEPTION_OF_TASTE, GOBP_SENSORY_PERCEPTION_OF_TASTE, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_RESPONSE_TO_PH, GOBP_CELLULAR_RESPONSE_TO_PH, GOBP_DETECTION_OF_ABIOTIC_STIMULUS, GOBP_DETECTION_OF_STIMULUS, GOBP_SENSORY_PERCEPTION, GOBP_RESPONSE_TO_ACIDIC_PH, GOBP_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT

GO Biological Process (10): detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581), monoatomic cation transport (GO:0006812), sensory perception of sour taste (GO:0050915), detection of mechanical stimulus (GO:0050982), calcium ion transmembrane transport (GO:0070588), cellular response to acidic pH (GO:0071468), monoatomic cation transmembrane transport (GO:0098655), monoatomic ion transport (GO:0006811), calcium ion transport (GO:0006816), monoatomic ion transmembrane transport (GO:0034220)

GO Molecular Function (8): calcium-activated cation channel activity (GO:0005227), calcium channel activity (GO:0005262), carbohydrate binding (GO:0030246), pH-gated monoatomic ion channel activity (GO:0160128), monoatomic cation channel activity (GO:0005261), protein binding (GO:0005515), monoatomic cation transmembrane transporter activity (GO:0008324), sour taste receptor activity (GO:0033040)

GO Cellular Component (6): plasma membrane (GO:0005886), membrane (GO:0016020), cation channel complex (GO:0034703), signaling receptor complex (GO:0043235), extracellular exosome (GO:0070062), cell surface (GO:0009986)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
monoatomic ion transport2
monoatomic cation transmembrane transport2
binding2
cellular anatomical structure2
detection of chemical stimulus involved in sensory perception of taste1
sensory perception of sour taste1
sensory perception of taste1
detection of external stimulus1
detection of abiotic stimulus1
response to mechanical stimulus1
calcium ion transport1
response to acidic pH1
cellular response to pH1
monoatomic cation transport1
monoatomic ion transmembrane transport1
transport1
metal ion transport1
transmembrane transport1
monoatomic ion-gated channel activity1
ligand-gated monoatomic cation channel activity1
monoatomic cation channel activity1
calcium ion transmembrane transporter activity1
ligand-gated monoatomic ion channel activity1
monoatomic ion channel activity1
monoatomic cation transmembrane transporter activity1
monoatomic ion transmembrane transporter activity1
detection of chemical stimulus involved in sensory perception of sour taste1
taste receptor activity1
membrane1
cell periphery1
monoatomic ion channel complex1
protein-containing complex1
extracellular vesicle1

Protein interactions and networks

STRING

708 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
PKD1L3PKD2L1Q9P0L9989
PKD1L3TRPM5Q9NZQ8939
PKD1L3PRKD1Q15139785
PKD1L3PLATP00750680
PKD1L3TAS1R2Q8TE23651
PKD1L3TAS1R1Q7RTX1632
PKD1L3TAS1R3Q7RTX0613
PKD1L3PKD2L2Q9NZM6590
PKD1L3TAS2R60P59551573
PKD1L3TAS2R42Q7RTR8572
PKD1L3TAS2R41P59536560
PKD1L3TAS2R50P59544542
PKD1L3PLCB2Q00722535
PKD1L3GNAT3A8MTJ3522
PKD1L3TAS2R39P59534519

IntAct

5 interactions, top by confidence:

ABTypeScore
PKD1L3AP2M1psi-mi:“MI:0915”(physical association)0.400
PKD1L3PKD2L1psi-mi:“MI:0915”(physical association)0.400
KLHL22TRAV18psi-mi:“MI:0914”(association)0.350
VHLPKD1L3psi-mi:“MI:0915”(physical association)0.000

BioGRID (4): PKD1L3 (Affinity Capture-MS), PKD1L3 (Affinity Capture-MS), AP2M1 (Proximity Label-MS), PKD1L3 (Affinity Capture-MS)

ESM2 similar proteins: A0JPE1, A0JPH4, A2VDJ0, A4D0V7, A4IH36, A6H684, O75129, O88199, O95170, P16047, P23352, P33005, P97793, Q05004, Q08DV9, Q3U095, Q3U3D7, Q52KP5, Q5NDE4, Q5XI89, Q60943, Q68CR1, Q6L8S8, Q6L9W6, Q6PKC3, Q6Q2W4, Q6UWF7, Q7LFX5, Q7T2L7, Q7TN22, Q7Z443, Q80TS8, Q8CHI9, Q8JZL1, Q8K2W3, Q8N323, Q8N6G5, Q8NFM7, Q90369, Q91XQ5

Diamond homologs: A2RSQ0, B8UU59, C8YR32, E7FKV8, G3V7Q0, O08852, O16025, P09917, P12527, P48999, P51399, P98161, Q09624, Q2EG98, Q6IQ26, Q6NXD8, Q6PAL8, Q6ZUT9, Q7TN88, Q7Z442, Q7Z443, Q8IVV2, Q8R526, Q8TDX9, Q9NTG1, Q9Z0T6, A1Z7G7, B3MFV7, B4HS00, C0HK23, C6KFA3, O88917, O88923, O94910, O97817, O97831, P06734, Q13563, Q2LK54, Q80TR1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance261
Likely benign25
Benign6

Top pathogenic / likely-pathogenic (0)

SpliceAI

4067 predictions. Top by Δscore:

VariantEffectΔscore
16:71930048:CTAC:Cdonor_loss1.0000
16:71930049:TA:Tdonor_loss1.0000
16:71930051:C:Adonor_loss1.0000
16:71930182:ACCTG:Aacceptor_gain1.0000
16:71930183:CCTG:Cacceptor_gain1.0000
16:71930183:CCTGG:Cacceptor_loss1.0000
16:71930184:C:Aacceptor_gain1.0000
16:71930184:C:CGacceptor_loss1.0000
16:71933414:TTTTA:Tdonor_loss1.0000
16:71933415:TTTAC:Tdonor_loss1.0000
16:71933416:TTA:Tdonor_loss1.0000
16:71933417:TAC:Tdonor_loss1.0000
16:71933418:A:Cdonor_loss1.0000
16:71933418:ACCT:Adonor_gain1.0000
16:71933419:C:CTdonor_loss1.0000
16:71933419:CCTC:Cdonor_gain1.0000
16:71933421:T:TAdonor_gain1.0000
16:71933517:TTAAA:Tacceptor_gain1.0000
16:71933518:TAAA:Tacceptor_gain1.0000
16:71933519:AAA:Aacceptor_gain1.0000
16:71933519:AAAC:Aacceptor_loss1.0000
16:71933520:AA:Aacceptor_gain1.0000
16:71933521:ACTG:Aacceptor_loss1.0000
16:71933522:C:CCacceptor_gain1.0000
16:71933522:C:CGacceptor_loss1.0000
16:71933913:A:ACdonor_gain1.0000
16:71933914:C:CCdonor_gain1.0000
16:71933914:CGG:Cdonor_gain1.0000
16:71933926:AG:Adonor_gain1.0000
16:71935517:CC:Cacceptor_gain1.0000

AlphaMissense

11384 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
16:71970091:G:CS656R0.994
16:71970091:G:TS656R0.994
16:71970093:T:GS656R0.994
16:71973342:C:AW645C0.989
16:71973342:C:GW645C0.989
16:71949906:G:CS1165R0.988
16:71949906:G:TS1165R0.988
16:71949908:T:GS1165R0.988
16:71999736:C:AW81C0.988
16:71999736:C:GW81C0.988
16:71967217:G:CF795L0.987
16:71967217:G:TF795L0.987
16:71967219:A:GF795L0.987
16:71963297:G:CF840L0.984
16:71963297:G:TF840L0.984
16:71963299:A:GF840L0.984
16:71998285:G:CF135L0.984
16:71998285:G:TF135L0.984
16:71998287:A:GF135L0.984
16:71999827:C:GC51S0.984
16:71999828:A:TC51S0.984
16:71973328:C:GC650S0.983
16:71973329:A:TC650S0.983
16:71973363:C:AW638C0.983
16:71973363:C:GW638C0.983
16:71973372:A:CC635W0.983
16:71973374:A:GC635R0.983
16:71970065:C:GC665S0.980
16:71970066:A:TC665S0.980
16:71970064:A:CC665W0.979

dbSNP variants (sampled 300 via entrez): RS1000000653 (16:71996506 C>A,T), RS1000111891 (16:71934254 C>A,G), RS1000144387 (16:71934412 T>C,G), RS1000193443 (16:71980116 T>C), RS1000237985 (16:71944489 C>T), RS1000261062 (16:71972496 C>A,T), RS1000311383 (16:71939473 A>C), RS1000334233 (16:71999054 G>A,C), RS1000344998 (16:71929744 A>C,G), RS1000384896 (16:71998919 T>C), RS1000390534 (16:71992480 A>G), RS1000425785 (16:71988495 A>G), RS1000440844 (16:71994946 C>G,T), RS1000473914 (16:71958629 A>T), RS1000513930 (16:71954931 G>A,C)

Disease associations

OMIM: gene MIM:607895 | disease phenotypes: MIM:190300

GenCC curated gene-disease

Mondo (1): essential tremor (MONDO:0003233)

Orphanet (1): NON RARE IN EUROPE: Hereditary essential tremor (Orphanet:862)

HPO phenotypes

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

GWAS associations

20 associations (top):

StudyTraitp-value
GCST000253_4Attention deficit hyperactivity disorder and conduct disorder7.000000e-06
GCST002890_1Prostate cancer1.000000e-07
GCST003194_31Fibrinogen levels3.000000e-12
GCST003329_10Response to anti-TNF therapy in rheumatoid arthritis9.000000e-06
GCST004121_8Fibrinogen levels1.000000e-08
GCST004231_4Total cholesterol levels1.000000e-13
GCST004233_57LDL cholesterol levels4.000000e-15
GCST004235_80Total cholesterol levels6.000000e-13
GCST004236_4LDL cholesterol levels1.000000e-14
GCST005194_123Coronary artery disease3.000000e-06
GCST005316_207Intelligence (MTAG)5.000000e-10
GCST005829_27Hand grip strength3.000000e-08
GCST006269_317General cognitive ability1.000000e-11
GCST009917_2LDL cholesterol levels5.000000e-08
GCST009919_1Total cholesterol levels3.000000e-07
GCST010002_114Refractive error4.000000e-10
GCST010118_58Type 2 diabetes6.000000e-09
GCST011365_110Myocardial infarction1.000000e-07
GCST011742_34Triglyceride levels in HIV infection9.000000e-06
GCST90002397_247Mean spheric corpuscular volume5.000000e-12

EFO canonical traits (7, from GWAS)

EFO IDTrait name
EFO:0004653response to TNF antagonist
EFO:0004574total cholesterol measurement
EFO:0004611low density lipoprotein cholesterol measurement
EFO:0004337intelligence
EFO:0006941grip strength measurement
EFO:0007804LDL cholesterol change measurement
EFO:0004530triglyceride measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
D020329Essential TremorC10.228.662.350

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs3213422ATP5A1P3, DHODH, PKD1L330.001leflunomide

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

ChemicalActions (top 5)PubMed papers
aristolochic acid Iincreases expression1
sodium arseniteincreases expression1
butyraldehydedecreases expression1
licochalcone Bincreases expression1
theaflavin-3,3’-digallateaffects expression1
Resveratrolaffects cotreatment, decreases expression1
Benzo(a)pyreneincreases methylation1
Plant Extractsaffects cotreatment, decreases expression1
Smokeincreases expression1
Tobacco Smoke Pollutionaffects expression1
Propofoldecreases expression1
Okadaic Aciddecreases expression1

Clinical trials (associated diseases)

235 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00439699PHASE4COMPLETEDA Pilot Clinical Trial Of Memantine for Essential Tremor
NCT00584376PHASE4COMPLETEDPregabalin (Lyrica) for the Treatment of Essential Tremor
NCT00998660PHASE4COMPLETEDRECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR)
NCT02111369PHASE4COMPLETEDPropranolol and Botulinum Toxin for Essential Vocal Tremor
NCT02495883PHASE4COMPLETEDFunctional Imaging of Tremor Circuits and Mechanisms of Treatment Response
NCT00018564PHASE3COMPLETEDNovel Therapies for Essential Tremor
NCT00236496PHASE3COMPLETEDA Comparison of the Efficacy and Safety of Topiramate Versus Placebo in Treating Tremor of Unknown Cause.
NCT01441284PHASE3WITHDRAWNEfficacy of Pramipexole Extended Release in the Treatment of Essential Tremor
NCT04193527PHASE3COMPLETEDA Study to Evaluate the Diagnostic Efficacy of DaTSCAN™ Ioflupane (123I) Injection in Single Photon Emission Computed Tomography (SPECT) for the Diagnosis of Parkinsonian Syndrome (PS) in Chinese Patients
NCT04265209PHASE3COMPLETED[18F] LBT-999 PET Compared to [123I]-FP/CIT SPECT to Distinguish Between Parkinson’s Diseases and Essential Tremor
NCT06087276PHASE3ENROLLING_BY_INVITATIONEssential 3 - Decentralized, Phase 3 Study Evaluating the Safety and Efficacy of Ulixacaltamide in Essential Tremor (ET)
NCT00080366PHASE2COMPLETEDOctanol to Treat Essential Tremor
NCT00102596PHASE2COMPLETEDClinical Trial Characterizing the Bioavailability of 1-Octanol in Adults With Ethanol-responsive Essential Tremor
NCT00223743PHASE2COMPLETEDA Safety/Efficacy Trial of Zonisamide for Essential Tremor
NCT00321087PHASE2TERMINATEDA Study of T2000 in Essential Tremor
NCT00598078PHASE2COMPLETEDMultiple-dose,Double-blind,Placebo-controlled Study of Sodium Oxybate in Patients With Essential Tremor
NCT00655278PHASE2TERMINATEDT2000 in Essential Tremor - Open Label Continuation
NCT01332695PHASE2COMPLETEDA Pilot Efficacy and Safety Study of ST101 in Essential Tremor
NCT02277106PHASE2COMPLETEDEvaluate SAGE-547 in Participants With Essential Tremor
NCT02551848PHASE2UNKNOWNKinematic-based BoNT-A Injections for Bilateral ET
NCT02668146PHASE2UNKNOWNAn Efficacy/Safety Study of Perampanel for Reducing Essential Tremor
NCT02978781PHASE2COMPLETEDA Study to Evaluate SAGE-217 in Participants With Essential Tremor
NCT03101241PHASE2COMPLETEDA Phase 2 RCT Study of CX-8998 for Essential Tremor
NCT03688685PHASE2COMPLETEDA Clinical Study to Evaluate CAD-1883 in Essential Tremor
NCT03780426PHASE2COMPLETEDtSMS in Essential Tremor
NCT04305275PHASE2COMPLETEDA Study to Evaluate the Efficacy, Safety, and Tolerability of SAGE-324 in Participants With Essential Tremor
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  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): conduct disorder, essential tremor