PKD1L3
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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
| Field | Value |
|---|---|
| HGNC ID | HGNC:21716 |
| Approved symbol | PKD1L3 |
| Name | polycystin 1 like 3, transient receptor potential channel interacting |
| Location | 16q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000277481 |
| Ensembl biotype | protein_coding |
| OMIM | 607895 |
| Entrez | 342372 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00003714561 | 71999684 | 72000402 |
| ENSE00003717412 | 71984036 | 71984167 |
| ENSE00003717465 | 71967906 | 71968007 |
| ENSE00003718012 | 71949783 | 71950017 |
| ENSE00003718877 | 71933420 | 71933521 |
| ENSE00003719069 | 71982059 | 71982235 |
| ENSE00003719100 | 71937292 | 71937419 |
| ENSE00003719687 | 71942560 | 71943024 |
| ENSE00003724510 | 71954105 | 71954301 |
| ENSE00003724707 | 71978255 | 71978383 |
| ENSE00003728251 | 71979786 | 71979912 |
| ENSE00003728431 | 71950118 | 71950310 |
| ENSE00003729390 | 71930052 | 71930183 |
| ENSE00003729444 | 71935358 | 71935518 |
| ENSE00003732860 | 71967137 | 71967315 |
| ENSE00003733139 | 71969875 | 71970105 |
| ENSE00003733642 | 71951564 | 71951744 |
| ENSE00003735599 | 71973324 | 71973517 |
| ENSE00003736440 | 71929538 | 71929678 |
| ENSE00003737158 | 71952894 | 71953093 |
| ENSE00003738588 | 71980007 | 71980134 |
| ENSE00003739160 | 71993216 | 71993332 |
| ENSE00003739334 | 71944030 | 71944170 |
| ENSE00003743444 | 71933915 | 71934125 |
| ENSE00003746777 | 71990280 | 71990329 |
| ENSE00003748520 | 71977236 | 71977467 |
| ENSE00003749574 | 71998272 | 71998394 |
| ENSE00003752313 | 71963205 | 71963351 |
| ENSE00003754068 | 71986221 | 71986469 |
| ENSE00003754653 | 71947492 | 71947591 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 158050 | 0.0543 | 9 |
| 158051 | 0.0043 | 3 |
Top tissues by expression
98 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 68.65 | silver quality |
| right lobe of liver | UBERON:0001114 | 57.59 | gold quality |
| liver | UBERON:0002107 | 56.29 | gold quality |
| bone marrow cell | CL:0002092 | 52.33 | gold quality |
| sural nerve | UBERON:0015488 | 49.87 | gold quality |
| right atrium auricular region | UBERON:0006631 | 49.84 | gold quality |
| bone marrow | UBERON:0002371 | 48.65 | gold quality |
| pituitary gland | UBERON:0000007 | 48.26 | gold quality |
| duodenum | UBERON:0002114 | 48.26 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 48.17 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 47.51 | gold quality |
| stromal cell of endometrium | CL:0002255 | 47.43 | gold quality |
| placenta | UBERON:0001987 | 47.18 | gold quality |
| monocyte | CL:0000576 | 47.01 | silver quality |
| leukocyte | CL:0000738 | 46.37 | silver quality |
| adenohypophysis | UBERON:0002196 | 46.24 | gold quality |
| muscle tissue | UBERON:0002385 | 46.16 | gold quality |
| small intestine | UBERON:0002108 | 46.07 | gold quality |
| lymph node | UBERON:0000029 | 45.95 | silver quality |
| small intestine Peyer’s patch | UBERON:0003454 | 45.20 | gold quality |
| blood | UBERON:0000178 | 44.99 | gold quality |
| omental fat pad | UBERON:0010414 | 44.92 | gold quality |
| tonsil | UBERON:0002372 | 44.75 | gold quality |
| vermiform appendix | UBERON:0001154 | 44.24 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 44.12 | silver quality |
| right adrenal gland cortex | UBERON:0035827 | 42.77 | gold quality |
| adipose tissue | UBERON:0001013 | 42.17 | gold quality |
| ganglionic eminence | UBERON:0004023 | 42.02 | gold quality |
| heart | UBERON:0000948 | 41.94 | gold quality |
| mucosa of stomach | UBERON:0001199 | 41.94 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.44 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pkd1a | ENSDARG00000030417 |
| danio_rerio | pkd1b | ENSDARG00000033029 |
| danio_rerio | pkd1l2b | ENSDARG00000088121 |
| danio_rerio | pkd1l2b | ENSDARG00000101214 |
| danio_rerio | pkd1l2a | ENSDARG00000105344 |
| mus_musculus | Pkd1l3 | ENSMUSG00000048827 |
| rattus_norvegicus | Pkd1l3 | ENSRNOG00000052310 |
| drosophila_melanogaster | Pkd2 | FBGN0041195 |
| caenorhabditis_elegans | WBGENE00004035 |
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 3 — Q7Z443 (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)
| ID | Name | Type |
|---|---|---|
| IPR000203 | GPS | Conserved_site |
| IPR000434 | PC1 | Family |
| IPR001024 | PLAT/LH2_dom | Domain |
| IPR001304 | C-type_lectin-like | Domain |
| IPR013122 | PKD1_2_channel | 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 |
| IPR046338 | GAIN_dom_sf | Homologous_superfamily |
| IPR051223 | Polycystin | Family |
| IPR057244 | GAIN_B | Domain |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z443-F1 | 65.18 | 0.04 |
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:
| Category | Terms |
|---|---|
| monoatomic ion transport | 2 |
| monoatomic cation transmembrane transport | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| detection of chemical stimulus involved in sensory perception of taste | 1 |
| sensory perception of sour taste | 1 |
| sensory perception of taste | 1 |
| detection of external stimulus | 1 |
| detection of abiotic stimulus | 1 |
| response to mechanical stimulus | 1 |
| calcium ion transport | 1 |
| response to acidic pH | 1 |
| cellular response to pH | 1 |
| monoatomic cation transport | 1 |
| monoatomic ion transmembrane transport | 1 |
| transport | 1 |
| metal ion transport | 1 |
| transmembrane transport | 1 |
| monoatomic ion-gated channel activity | 1 |
| ligand-gated monoatomic cation channel activity | 1 |
| monoatomic cation channel activity | 1 |
| calcium ion transmembrane transporter activity | 1 |
| ligand-gated monoatomic ion channel activity | 1 |
| monoatomic ion channel activity | 1 |
| monoatomic cation transmembrane transporter activity | 1 |
| monoatomic ion transmembrane transporter activity | 1 |
| detection of chemical stimulus involved in sensory perception of sour taste | 1 |
| taste receptor activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| monoatomic ion channel complex | 1 |
| protein-containing complex | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
708 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PKD1L3 | PKD2L1 | Q9P0L9 | 989 |
| PKD1L3 | TRPM5 | Q9NZQ8 | 939 |
| PKD1L3 | PRKD1 | Q15139 | 785 |
| PKD1L3 | PLAT | P00750 | 680 |
| PKD1L3 | TAS1R2 | Q8TE23 | 651 |
| PKD1L3 | TAS1R1 | Q7RTX1 | 632 |
| PKD1L3 | TAS1R3 | Q7RTX0 | 613 |
| PKD1L3 | PKD2L2 | Q9NZM6 | 590 |
| PKD1L3 | TAS2R60 | P59551 | 573 |
| PKD1L3 | TAS2R42 | Q7RTR8 | 572 |
| PKD1L3 | TAS2R41 | P59536 | 560 |
| PKD1L3 | TAS2R50 | P59544 | 542 |
| PKD1L3 | PLCB2 | Q00722 | 535 |
| PKD1L3 | GNAT3 | A8MTJ3 | 522 |
| PKD1L3 | TAS2R39 | P59534 | 519 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PKD1L3 | AP2M1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PKD1L3 | PKD2L1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KLHL22 | TRAV18 | psi-mi:“MI:0914”(association) | 0.350 |
| VHL | PKD1L3 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 261 |
| Likely benign | 25 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4067 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:71930048:CTAC:C | donor_loss | 1.0000 |
| 16:71930049:TA:T | donor_loss | 1.0000 |
| 16:71930051:C:A | donor_loss | 1.0000 |
| 16:71930182:ACCTG:A | acceptor_gain | 1.0000 |
| 16:71930183:CCTG:C | acceptor_gain | 1.0000 |
| 16:71930183:CCTGG:C | acceptor_loss | 1.0000 |
| 16:71930184:C:A | acceptor_gain | 1.0000 |
| 16:71930184:C:CG | acceptor_loss | 1.0000 |
| 16:71933414:TTTTA:T | donor_loss | 1.0000 |
| 16:71933415:TTTAC:T | donor_loss | 1.0000 |
| 16:71933416:TTA:T | donor_loss | 1.0000 |
| 16:71933417:TAC:T | donor_loss | 1.0000 |
| 16:71933418:A:C | donor_loss | 1.0000 |
| 16:71933418:ACCT:A | donor_gain | 1.0000 |
| 16:71933419:C:CT | donor_loss | 1.0000 |
| 16:71933419:CCTC:C | donor_gain | 1.0000 |
| 16:71933421:T:TA | donor_gain | 1.0000 |
| 16:71933517:TTAAA:T | acceptor_gain | 1.0000 |
| 16:71933518:TAAA:T | acceptor_gain | 1.0000 |
| 16:71933519:AAA:A | acceptor_gain | 1.0000 |
| 16:71933519:AAAC:A | acceptor_loss | 1.0000 |
| 16:71933520:AA:A | acceptor_gain | 1.0000 |
| 16:71933521:ACTG:A | acceptor_loss | 1.0000 |
| 16:71933522:C:CC | acceptor_gain | 1.0000 |
| 16:71933522:C:CG | acceptor_loss | 1.0000 |
| 16:71933913:A:AC | donor_gain | 1.0000 |
| 16:71933914:C:CC | donor_gain | 1.0000 |
| 16:71933914:CGG:C | donor_gain | 1.0000 |
| 16:71933926:AG:A | donor_gain | 1.0000 |
| 16:71935517:CC:C | acceptor_gain | 1.0000 |
AlphaMissense
11384 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:71970091:G:C | S656R | 0.994 |
| 16:71970091:G:T | S656R | 0.994 |
| 16:71970093:T:G | S656R | 0.994 |
| 16:71973342:C:A | W645C | 0.989 |
| 16:71973342:C:G | W645C | 0.989 |
| 16:71949906:G:C | S1165R | 0.988 |
| 16:71949906:G:T | S1165R | 0.988 |
| 16:71949908:T:G | S1165R | 0.988 |
| 16:71999736:C:A | W81C | 0.988 |
| 16:71999736:C:G | W81C | 0.988 |
| 16:71967217:G:C | F795L | 0.987 |
| 16:71967217:G:T | F795L | 0.987 |
| 16:71967219:A:G | F795L | 0.987 |
| 16:71963297:G:C | F840L | 0.984 |
| 16:71963297:G:T | F840L | 0.984 |
| 16:71963299:A:G | F840L | 0.984 |
| 16:71998285:G:C | F135L | 0.984 |
| 16:71998285:G:T | F135L | 0.984 |
| 16:71998287:A:G | F135L | 0.984 |
| 16:71999827:C:G | C51S | 0.984 |
| 16:71999828:A:T | C51S | 0.984 |
| 16:71973328:C:G | C650S | 0.983 |
| 16:71973329:A:T | C650S | 0.983 |
| 16:71973363:C:A | W638C | 0.983 |
| 16:71973363:C:G | W638C | 0.983 |
| 16:71973372:A:C | C635W | 0.983 |
| 16:71973374:A:G | C635R | 0.983 |
| 16:71970065:C:G | C665S | 0.980 |
| 16:71970066:A:T | C665S | 0.980 |
| 16:71970064:A:C | C665W | 0.979 |
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):
| Study | Trait | p-value |
|---|---|---|
| GCST000253_4 | Attention deficit hyperactivity disorder and conduct disorder | 7.000000e-06 |
| GCST002890_1 | Prostate cancer | 1.000000e-07 |
| GCST003194_31 | Fibrinogen levels | 3.000000e-12 |
| GCST003329_10 | Response to anti-TNF therapy in rheumatoid arthritis | 9.000000e-06 |
| GCST004121_8 | Fibrinogen levels | 1.000000e-08 |
| GCST004231_4 | Total cholesterol levels | 1.000000e-13 |
| GCST004233_57 | LDL cholesterol levels | 4.000000e-15 |
| GCST004235_80 | Total cholesterol levels | 6.000000e-13 |
| GCST004236_4 | LDL cholesterol levels | 1.000000e-14 |
| GCST005194_123 | Coronary artery disease | 3.000000e-06 |
| GCST005316_207 | Intelligence (MTAG) | 5.000000e-10 |
| GCST005829_27 | Hand grip strength | 3.000000e-08 |
| GCST006269_317 | General cognitive ability | 1.000000e-11 |
| GCST009917_2 | LDL cholesterol levels | 5.000000e-08 |
| GCST009919_1 | Total cholesterol levels | 3.000000e-07 |
| GCST010002_114 | Refractive error | 4.000000e-10 |
| GCST010118_58 | Type 2 diabetes | 6.000000e-09 |
| GCST011365_110 | Myocardial infarction | 1.000000e-07 |
| GCST011742_34 | Triglyceride levels in HIV infection | 9.000000e-06 |
| GCST90002397_247 | Mean spheric corpuscular volume | 5.000000e-12 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004653 | response to TNF antagonist |
| EFO:0004574 | total cholesterol measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004337 | intelligence |
| EFO:0006941 | grip strength measurement |
| EFO:0007804 | LDL cholesterol change measurement |
| EFO:0004530 | triglyceride measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D020329 | Essential Tremor | C10.228.662.350 |
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 |
|---|---|---|---|---|---|
| rs3213422 | ATP5A1P3, DHODH, PKD1L3 | 3 | 0.00 | 1 | leflunomide |
CTD chemical–gene interactions
12 total (human), top 12 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| licochalcone B | increases expression | 1 |
| theaflavin-3,3’-digallate | affects expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Smoke | increases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Propofol | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
235 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00439699 | PHASE4 | COMPLETED | A Pilot Clinical Trial Of Memantine for Essential Tremor |
| NCT00584376 | PHASE4 | COMPLETED | Pregabalin (Lyrica) for the Treatment of Essential Tremor |
| NCT00998660 | PHASE4 | COMPLETED | RECHARGE Sub-Study to the Implantable Systems Performance Registry (ISPR) |
| NCT02111369 | PHASE4 | COMPLETED | Propranolol and Botulinum Toxin for Essential Vocal Tremor |
| NCT02495883 | PHASE4 | COMPLETED | Functional Imaging of Tremor Circuits and Mechanisms of Treatment Response |
| NCT00018564 | PHASE3 | COMPLETED | Novel Therapies for Essential Tremor |
| NCT00236496 | PHASE3 | COMPLETED | A Comparison of the Efficacy and Safety of Topiramate Versus Placebo in Treating Tremor of Unknown Cause. |
| NCT01441284 | PHASE3 | WITHDRAWN | Efficacy of Pramipexole Extended Release in the Treatment of Essential Tremor |
| NCT04193527 | PHASE3 | COMPLETED | A 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 |
| NCT04265209 | PHASE3 | COMPLETED | [18F] LBT-999 PET Compared to [123I]-FP/CIT SPECT to Distinguish Between Parkinson’s Diseases and Essential Tremor |
| NCT06087276 | PHASE3 | ENROLLING_BY_INVITATION | Essential 3 - Decentralized, Phase 3 Study Evaluating the Safety and Efficacy of Ulixacaltamide in Essential Tremor (ET) |
| NCT00080366 | PHASE2 | COMPLETED | Octanol to Treat Essential Tremor |
| NCT00102596 | PHASE2 | COMPLETED | Clinical Trial Characterizing the Bioavailability of 1-Octanol in Adults With Ethanol-responsive Essential Tremor |
| NCT00223743 | PHASE2 | COMPLETED | A Safety/Efficacy Trial of Zonisamide for Essential Tremor |
| NCT00321087 | PHASE2 | TERMINATED | A Study of T2000 in Essential Tremor |
| NCT00598078 | PHASE2 | COMPLETED | Multiple-dose,Double-blind,Placebo-controlled Study of Sodium Oxybate in Patients With Essential Tremor |
| NCT00655278 | PHASE2 | TERMINATED | T2000 in Essential Tremor - Open Label Continuation |
| NCT01332695 | PHASE2 | COMPLETED | A Pilot Efficacy and Safety Study of ST101 in Essential Tremor |
| NCT02277106 | PHASE2 | COMPLETED | Evaluate SAGE-547 in Participants With Essential Tremor |
| NCT02551848 | PHASE2 | UNKNOWN | Kinematic-based BoNT-A Injections for Bilateral ET |
| NCT02668146 | PHASE2 | UNKNOWN | An Efficacy/Safety Study of Perampanel for Reducing Essential Tremor |
| NCT02978781 | PHASE2 | COMPLETED | A Study to Evaluate SAGE-217 in Participants With Essential Tremor |
| NCT03101241 | PHASE2 | COMPLETED | A Phase 2 RCT Study of CX-8998 for Essential Tremor |
| NCT03688685 | PHASE2 | COMPLETED | A Clinical Study to Evaluate CAD-1883 in Essential Tremor |
| NCT03780426 | PHASE2 | COMPLETED | tSMS in Essential Tremor |
| NCT04305275 | PHASE2 | COMPLETED | A Study to Evaluate the Efficacy, Safety, and Tolerability of SAGE-324 in Participants With Essential Tremor |
| NCT04727658 | PHASE2 | TERMINATED | Linac FRACtionated Radiosurgical THALamotomie in Tremors (FRACTHAL) |
| NCT04880616 | PHASE2 | COMPLETED | Safety, Efficacy, and Tolerability of NBI-827104 for the Treatment of Essential Tremor |
| NCT05021978 | PHASE2 | COMPLETED | A Clinical Trial of PRAX-944 in Participants With Essential Tremor |
| NCT05021991 | PHASE2 | COMPLETED | A Clinical Trial of 2 Doses of PRAX-944 in Participants With Essential Tremor |
| NCT05122650 | PHASE2 | COMPLETED | A Study To Assess the Safety and Efficacy of JZP385 in the Treatment of Adults With Moderate to Severe Essential Tremor (ET) |
| NCT05173012 | PHASE2 | COMPLETED | Study to Evaluate SAGE-324 in Participants With Essential Tremor |
| NCT05387642 | PHASE2 | WITHDRAWN | A Clinical Trial of PRAX-114 in Participants With Essential Tremor |
| NCT06312800 | PHASE2 | WITHDRAWN | Acamprosate and Methazolamide for Essential Tremor |
| NCT06821906 | PHASE2 | RECRUITING | Stereotactic Radiosurgery in the Treatment of Essential Tremor |
| NCT07074002 | PHASE2 | RECRUITING | Proof of Concept Study on BP1.4979 Effect on Essential Tremor |
| NCT07103265 | PHASE2 | NOT_YET_RECRUITING | Developing a New LIFU Neuromodulation Method to Suppress Tremor |
| NCT00001986 | PHASE1 | COMPLETED | 1-Octanol to Treat Essential Tremor |
| NCT00016679 | PHASE1 | COMPLETED | 1-Octanol to Treat Essential Tremor |
| NCT01304758 | PHASE1 | COMPLETED | ExAblate Transcranial MR Guided Focused Ultrasound in the Treatment of Essential Tremor |
Related Atlas pages
- 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