REM1
geneOn this page
Also known as GES
Summary
REM1 (RRAD and GEM like GTPase 1, HGNC:15922) is a protein-coding gene on chromosome 20q11.21, encoding GTP-binding protein REM 1 (O75628). Promotes endothelial cell sprouting and actin cytoskeletal reorganization.
The protein encoded by this gene is a GTPase and member of the RAS-like GTP-binding protein family. The encoded protein is expressed in endothelial cells, where it promotes reorganization of the actin cytoskeleton and morphological changes in the cells.
Source: NCBI Gene 28954 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 64 total
- MANE Select transcript:
NM_014012
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15922 |
| Approved symbol | REM1 |
| Name | RRAD and GEM like GTPase 1 |
| Location | 20q11.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | GES |
| Ensembl gene | ENSG00000088320 |
| Ensembl biotype | protein_coding |
| OMIM | 610388 |
| Entrez | 28954 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 11 protein_coding
ENST00000201979, ENST00000898142, ENST00000898143, ENST00000898144, ENST00000898145, ENST00000898146, ENST00000954465, ENST00000954466, ENST00000954467, ENST00000954468, ENST00000954469
RefSeq mRNA: 1 — MANE Select: NM_014012
NM_014012
CCDS: CCDS13181
Canonical transcript exons
ENST00000201979 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000661077 | 31477828 | 31477910 |
| ENSE00000661078 | 31482287 | 31482488 |
| ENSE00000859838 | 31476227 | 31476785 |
| ENSE00001018614 | 31484159 | 31484895 |
| ENSE00001018615 | 31475288 | 31475366 |
Expression profiles
Bgee: expression breadth ubiquitous, 211 present calls, max score 89.84.
FANTOM5 (CAGE): breadth broad, TPM avg 0.9953 / max 84.4682, expressed in 228 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183960 | 0.9953 | 228 |
Top tissues by expression
269 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| type B pancreatic cell | CL:0000169 | 89.84 | gold quality |
| olfactory bulb | UBERON:0002264 | 89.57 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.15 | silver quality |
| endocervix | UBERON:0000458 | 85.54 | gold quality |
| endometrium epithelium | UBERON:0004811 | 83.08 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 82.66 | gold quality |
| mucosa of stomach | UBERON:0001199 | 82.60 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.06 | gold quality |
| left uterine tube | UBERON:0001303 | 81.22 | gold quality |
| cervix epithelium | UBERON:0004801 | 81.03 | silver quality |
| cervix squamous epithelium | UBERON:0006922 | 80.52 | gold quality |
| ectocervix | UBERON:0012249 | 80.47 | gold quality |
| uterine cervix | UBERON:0000002 | 80.17 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 80.01 | gold quality |
| right coronary artery | UBERON:0001625 | 79.80 | gold quality |
| vena cava | UBERON:0004087 | 79.62 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 79.60 | silver quality |
| endothelial cell | CL:0000115 | 79.57 | silver quality |
| body of uterus | UBERON:0009853 | 79.32 | gold quality |
| ascending aorta | UBERON:0001496 | 79.02 | gold quality |
| thoracic aorta | UBERON:0001515 | 78.84 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 78.36 | gold quality |
| right uterine tube | UBERON:0001302 | 78.22 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 78.08 | gold quality |
| diaphragm | UBERON:0001103 | 78.03 | gold quality |
| aorta | UBERON:0000947 | 77.99 | gold quality |
| tibial nerve | UBERON:0001323 | 77.96 | gold quality |
| coronary artery | UBERON:0001621 | 77.92 | gold quality |
| left coronary artery | UBERON:0001626 | 77.87 | gold quality |
| gluteal muscle | UBERON:0002000 | 77.70 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.35 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
25 targeting REM1, 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-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-12119 | 99.87 | 68.35 | 1653 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-6513-3P | 99.59 | 69.77 | 1102 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-5701 | 98.97 | 69.54 | 1502 |
| HSA-MIR-29B-1-5P | 98.86 | 68.35 | 1364 |
| HSA-MIR-1237-3P | 98.55 | 67.65 | 1423 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-4436B-3P | 98.25 | 65.26 | 1494 |
| HSA-MIR-6735-5P | 98.24 | 65.36 | 1488 |
| HSA-MIR-211-3P | 98.14 | 66.77 | 1052 |
| HSA-MIR-7843-5P | 98.12 | 65.26 | 1421 |
| HSA-MIR-4632-5P | 97.82 | 65.38 | 1470 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
| HSA-MIR-1285-3P | 97.72 | 67.02 | 1932 |
| HSA-MIR-5189-5P | 97.72 | 66.96 | 1814 |
| HSA-MIR-1972 | 97.67 | 67.38 | 1172 |
| HSA-MIR-4771 | 97.43 | 67.69 | 596 |
| HSA-MIR-612 | 97.26 | 65.95 | 1597 |
| HSA-MIR-6860 | 97.21 | 66.31 | 1656 |
| HSA-MIR-4280 | 96.44 | 67.69 | 473 |
| HSA-MIR-10392-3P | 88.79 | 61.83 | 122 |
Literature-anchored findings (GeneRIF, showing 2)
- We conclude that Rem is capable of regulating L-type current, that release of Rem block is modulated by cellular kinase pathways, and that the Ca(V)1.2 COOH terminus contributes to Rem-dependent channel inhibition. (PMID:16648185)
- a role for the Rem C terminus in plasma membrane localization through association with phosphatidylinositol lipids. (PMID:17686775)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rem1 | ENSMUSG00000000359 |
| rattus_norvegicus | Rem1 | ENSRNOG00000007567 |
Paralogs (35): RALA (ENSG00000006451), RASL10A (ENSG00000100276), RASD2 (ENSG00000100302), RASL12 (ENSG00000103710), RHEB (ENSG00000106615), RASD1 (ENSG00000108551), RERGL (ENSG00000111404), RAP1A (ENSG00000116473), RASL11A (ENSG00000122035), RAP2C (ENSG00000123728), RAP2A (ENSG00000125249), RRAS (ENSG00000126458), RAP1B (ENSG00000127314), RASL11B (ENSG00000128045), KRAS (ENSG00000133703), RRAS2 (ENSG00000133818), RERG (ENSG00000134533), REM2 (ENSG00000139890), RIT1 (ENSG00000143622), RALB (ENSG00000144118), RIT2 (ENSG00000152214), MRAS (ENSG00000158186), DIRAS3 (ENSG00000162595), GEM (ENSG00000164949), DIRAS2 (ENSG00000165023), RRAD (ENSG00000166592), RHEBL1 (ENSG00000167550), NKIRAS2 (ENSG00000168256), HRAS (ENSG00000174775), DIRAS1 (ENSG00000176490), RAP2B (ENSG00000181467), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)
Protein
Protein identifiers
GTP-binding protein REM 1 — O75628 (reviewed: O75628)
Alternative names: GTPase-regulating endothelial cell sprouting, Rad and Gem-like GTP-binding protein 1
All UniProt accessions (1): O75628
UniProt curated annotations — full annotation on UniProt →
Function. Promotes endothelial cell sprouting and actin cytoskeletal reorganization. May be involved in angiogenesis. May function in Ca(2+) signaling.
Subunit / interactions. In vitro, interacts with calmodulin in a calcium-dependent manner.
Tissue specificity. Most highly expressed in the endothelial lining of the blood vessels in uterus and heart. Lower levels found in spleen, lymph node, kidney and testis. Also found in cells with secretory function such as the islets of Langerhans, lobule/duct epithelium in the breast, bile duct epithelium in the liver, surface epithelium in the endometrial glands of the uterus, colon mucosa and acinar cells in the pancreas and the prostate.
Similarity. Belongs to the small GTPase superfamily. RGK family.
RefSeq proteins (1): NP_054731* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR017358 | RGK | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR051641 | RGK_GTP-binding_reg | Family |
Pfam: PF00071
UniProt features (27 total): strand 6, helix 5, sequence variant 3, turn 3, region of interest 2, compositionally biased region 2, binding site 2, chain 1, mutagenesis site 1, sequence conflict 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2NZJ | X-RAY DIFFRACTION | 2.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75628-F1 | 71.33 | 0.36 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (2): 87–94; 195–198
Post-translational modifications (1): 51
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 94 | no endothelial cell sprouting. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 121 (showing top):
GOBP_NEGATIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, GOBP_SKELETAL_MUSCLE_CONTRACTION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_STRIATED_MUSCLE_CONTRACTION, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, GOBP_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_MUSCLE_CONTRACTION, GOBP_REGULATION_OF_CALCIUM_ION_TRANSMEMBRANE_TRANSPORT, WU_ALZHEIMER_DISEASE_DN, MODULE_99, GOBP_REGULATION_OF_SYSTEM_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT, GOBP_MUSCLE_SYSTEM_PROCESS
GO Biological Process (3): regulation of skeletal muscle contraction by calcium ion signaling (GO:0014722), negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel (GO:1904878), negative regulation of high voltage-gated calcium channel activity (GO:1901842)
GO Molecular Function (6): GTPase activity (GO:0003924), calcium channel regulator activity (GO:0005246), calmodulin binding (GO:0005516), GTP binding (GO:0005525), transmembrane transporter binding (GO:0044325), nucleotide binding (GO:0000166)
GO Cellular Component (3): plasma membrane (GO:0005886), T-tubule (GO:0030315), I band (GO:0031674)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 2 |
| cellular anatomical structure | 2 |
| skeletal muscle contraction | 1 |
| regulation of skeletal muscle contraction | 1 |
| calcium-mediated signaling | 1 |
| calcium ion transmembrane transport via high voltage-gated calcium channel | 1 |
| regulation of calcium ion transmembrane transport via high voltage-gated calcium channel | 1 |
| negative regulation of calcium ion transmembrane transport | 1 |
| high voltage-gated calcium channel activity | 1 |
| negative regulation of voltage-gated calcium channel activity | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| calcium channel activity | 1 |
| ion channel regulator activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| sarcolemma | 1 |
| sarcomere | 1 |
Protein interactions and networks
STRING
2511 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| REM1 | CACNA1C | Q13936 | 672 |
| REM1 | CALML4 | Q96GE6 | 632 |
| REM1 | CALM1 | P02593 | 597 |
| REM1 | CALML3 | P27482 | 597 |
| REM1 | CALML5 | Q9NZT1 | 597 |
| REM1 | CALML6 | Q8TD86 | 596 |
| REM1 | REM2 | Q8IYK8 | 509 |
| REM1 | CACNA1B | Q00975 | 471 |
| REM1 | FRMPD2 | Q68DX3 | 460 |
| REM1 | CAV1 | Q03135 | 413 |
| REM1 | RASSF5 | Q8WWW0 | 402 |
| REM1 | CAV2 | P51636 | 400 |
| REM1 | RABIF | P47224 | 382 |
| REM1 | TP53 | P04637 | 381 |
| REM1 | RASA1 | P20936 | 380 |
| REM1 | SOS1 | Q07889 | 380 |
IntAct
0 interactions, top by confidence:
BioGRID (12): REM1 (Affinity Capture-MS), REM1 (Far Western), REM1 (Far Western), REM1 (Far Western), REM1 (Far Western), REM1 (Reconstituted Complex), REM1 (Affinity Capture-Western), YWHAZ (Affinity Capture-Western), REM1 (Positive Genetic), REM1 (Affinity Capture-MS), WBSCR22 (Co-fractionation), SULT1A4 (Co-fractionation)
ESM2 similar proteins: A0FGR8, A1DZY4, A5D7J5, O35141, O35929, O75628, O75808, O94103, P01114, P01115, P0C0E4, P27040, P35739, P55040, P55041, P55043, P63032, P63033, P70268, Q00993, Q06AU5, Q13637, Q17QI8, Q3UFB7, Q496Y0, Q5R541, Q63433, Q67VP4, Q6IMB1, Q6P0U3, Q6T310, Q7L0Q8, Q7YS69, Q864R5, Q8HXH0, Q8IYK8, Q8J212, Q8QFP8, Q8VDU1, Q8VEL9
Diamond homologs: A1DZY4, A5A6J7, A6NIZ1, A8NU18, C4YKT4, D3Z8L7, G4MZY8, G4N1S3, O35929, O42785, O75628, O88667, O93856, P01119, P03967, P08645, P08647, P0CQ42, P0CQ43, P0CY32, P10114, P10301, P10833, P11233, P11234, P13856, P15064, P18613, P22124, P22126, P22278, P22279, P22280, P28775, P32252, P32253, P32254, P34726, P34729, P36860
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PRKD1 | “up-regulates activity” | REM1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
64 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 48 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1166 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:31476467:G:GT | donor_gain | 1.0000 |
| 20:31476751:G:T | donor_gain | 1.0000 |
| 20:31482486:A:T | donor_gain | 1.0000 |
| 20:31482487:AGGTG:A | donor_loss | 1.0000 |
| 20:31482488:GGTG:G | donor_loss | 1.0000 |
| 20:31482489:G:A | donor_loss | 1.0000 |
| 20:31482490:T:A | donor_loss | 1.0000 |
| 20:31475455:G:GT | donor_gain | 0.9900 |
| 20:31476751:G:GT | donor_gain | 0.9900 |
| 20:31476783:G:GT | donor_gain | 0.9900 |
| 20:31476783:G:T | donor_gain | 0.9900 |
| 20:31477819:C:A | acceptor_gain | 0.9900 |
| 20:31477820:G:A | acceptor_gain | 0.9900 |
| 20:31477826:A:AG | acceptor_gain | 0.9900 |
| 20:31477827:G:GA | acceptor_gain | 0.9900 |
| 20:31477827:GA:G | acceptor_gain | 0.9900 |
| 20:31477827:GAA:G | acceptor_gain | 0.9900 |
| 20:31482281:CTGCA:C | acceptor_loss | 0.9900 |
| 20:31482282:TGCA:T | acceptor_loss | 0.9900 |
| 20:31482283:GCA:G | acceptor_loss | 0.9900 |
| 20:31482284:CA:C | acceptor_loss | 0.9900 |
| 20:31482285:A:C | acceptor_loss | 0.9900 |
| 20:31482285:AG:A | acceptor_gain | 0.9900 |
| 20:31482286:G:GC | acceptor_loss | 0.9900 |
| 20:31482286:GG:G | acceptor_gain | 0.9900 |
| 20:31482484:GGAAG:G | donor_gain | 0.9900 |
| 20:31482485:GAAG:G | donor_gain | 0.9900 |
| 20:31482485:GAAGG:G | donor_gain | 0.9900 |
| 20:31482489:G:GG | donor_gain | 0.9900 |
| 20:31484110:C:CA | acceptor_gain | 0.9900 |
AlphaMissense
1899 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:31482344:T:G | Y161D | 0.998 |
| 20:31482365:A:C | S168R | 0.998 |
| 20:31482367:C:A | S168R | 0.998 |
| 20:31482367:C:G | S168R | 0.998 |
| 20:31482444:G:A | G194D | 0.998 |
| 20:31482451:G:C | K196N | 0.998 |
| 20:31482451:G:T | K196N | 0.998 |
| 20:31484174:C:A | A214D | 0.998 |
| 20:31476705:G:A | G87E | 0.997 |
| 20:31476705:G:T | G87V | 0.997 |
| 20:31482347:T:C | S162P | 0.997 |
| 20:31482378:C:A | A172D | 0.997 |
| 20:31482435:T:A | I191N | 0.997 |
| 20:31482438:T:A | L192H | 0.997 |
| 20:31482438:T:C | L192P | 0.997 |
| 20:31482444:G:T | G194V | 0.997 |
| 20:31482448:C:A | N195K | 0.997 |
| 20:31482448:C:G | N195K | 0.997 |
| 20:31484207:C:T | S225F | 0.997 |
| 20:31476720:G:T | G92V | 0.996 |
| 20:31482435:T:C | I191T | 0.996 |
| 20:31484161:G:C | G210R | 0.996 |
| 20:31484189:G:A | C219Y | 0.996 |
| 20:31484190:T:G | C219W | 0.996 |
| 20:31484194:T:C | F221L | 0.996 |
| 20:31484196:C:A | F221L | 0.996 |
| 20:31484196:C:G | F221L | 0.996 |
| 20:31476720:G:A | G92E | 0.995 |
| 20:31476732:T:C | L96S | 0.995 |
| 20:31482339:T:A | I159N | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000377779 (20:31480571 C>A), RS1000433540 (20:31474165 T>C), RS1000656023 (20:31480202 G>C), RS1000921203 (20:31479990 A>C,G), RS1001186369 (20:31475486 G>T), RS1001559112 (20:31481798 C>T), RS1001802990 (20:31484095 T>C), RS1002571379 (20:31483038 G>A), RS1002815527 (20:31478679 T>C), RS1003202019 (20:31478250 T>C), RS1003837173 (20:31483690 TCA>T), RS1004200559 (20:31484403 G>C,T), RS1004216646 (20:31484717 C>A,G,T), RS1004490294 (20:31476431 C>G,T), RS1004732525 (20:31478224 G>A)
Disease associations
OMIM: gene MIM:610388 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): long QT syndrome (MONDO:0002442)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
11 total (human), top 11 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression, increases expression | 1 |
| Folic Acid | increases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
Clinical trials (associated diseases)
66 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02513940 | PHASE4 | COMPLETED | Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes |
| NCT03834883 | PHASE4 | COMPLETED | Reducing the Risk of Drug-Induced QT Interval Lengthening in Women |
| NCT04169100 | PHASE4 | UNKNOWN | Novel Form of Acquired Long QT Syndrome |
| NCT04675788 | PHASE4 | COMPLETED | Novel Approaches for Minimizing Drug-Induced QT Interval Lengthening |
| NCT01648205 | PHASE2 | COMPLETED | Long-term Efficacy Study of Sodium Channel Blocker in LQT3 Patients |
| NCT02412709 | PHASE2 | UNKNOWN | Long QT Syndrome Screening in Newborns |
| NCT04581408 | PHASE2 | COMPLETED | Mutation-specific Therapy for the Long QT Syndrome |
| NCT00316459 | PHASE1 | COMPLETED | Study Evaluating the Effects of Multiple Oral Doses of ERB-041 on Cardiac Repolarization in Healthy Subjects |
| NCT01849003 | PHASE1 | COMPLETED | Study of the Effect of GS-6615 in Subjects With LQT-3 |
| NCT02365532 | PHASE1 | COMPLETED | Effect of Oral GS-6615 on Dofetilide-Induced QT Prolongation, Safety, and Tolerability in Healthy Adults |
| NCT02412098 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Hepatic Function |
| NCT02441829 | PHASE1 | COMPLETED | Pharmacokinetics of Eleclazine in Adults With Normal and Impaired Renal Function |
| NCT05759962 | PHASE1 | COMPLETED | Phase 1 Study of LQT-1213 in Healthy Adults |
| NCT05906732 | PHASE1/PHASE2 | TERMINATED | Study of LQT-1213 on QTc-induced Prolongation in Healthy Adult Subjects (Part1) and on Congenital Long QT in Patients Diagnosed With Type 2 or 3 Long QT Syndrome (Part 2). |
| NCT00005176 | Not specified | COMPLETED | Long QT Syndrome-Population Genetics and Cardiac Studies |
| NCT00005250 | Not specified | COMPLETED | Linkage Study of Long QT Syndrome In An Amish Kindred |
| NCT00005367 | Not specified | COMPLETED | Epidemiology of Long QTand Asian Sudden Death in Sleep |
| NCT00221832 | Not specified | UNKNOWN | Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases |
| NCT00292032 | Not specified | COMPLETED | Registry of Unexplained Cardiac Arrest |
| NCT00335036 | Not specified | TERMINATED | Pediatric Lead Extractability and Survival Evaluation (PLEASE) |
| NCT00399412 | Not specified | COMPLETED | ECG Signal Collection From Long QT Syndrome, Wide QRS Complexes, Heart Failure, and Cardiac Resynchronization Patients |
| NCT00488254 | Not specified | COMPLETED | The Long QT Syndrome in Pregnancy |
| NCT00588965 | Not specified | COMPLETED | Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects |
| NCT01705925 | Not specified | COMPLETED | Multicenter Evaluation of Children and Young Adults With Genotype Positive Long QT Syndrome |
| NCT01903564 | Not specified | COMPLETED | Fetal and Neonatal Magnetophysiology |
| NCT02082431 | Not specified | COMPLETED | Determine the Incidence of Long QT Amongst a Large Cohort of Subjects Diagnosed With Unilateral or Bilateral Sensorineural Hearing Loss. |
| NCT02413450 | Not specified | ENROLLING_BY_INVITATION | Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias |
| NCT02425189 | Not specified | COMPLETED | The Canadian National Long QT Syndrome Registry |
| NCT02439645 | Not specified | TERMINATED | A Registry to Determine the Clinical and Genetic Risk Factors for Torsade De Pointes |
| NCT02439658 | Not specified | UNKNOWN | Genetics of QT Prolongation With Antiarrhythmics |
| NCT02549664 | Not specified | COMPLETED | Exercise in Genetic Cardiovascular Conditions |
| NCT02581241 | Not specified | COMPLETED | Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome |
| NCT02680080 | Not specified | COMPLETED | Effect of Grapefruit on QT Interval in Healthy Volunteers and Patients With Congenital Long QT Syndrome |
| NCT02775513 | Not specified | UNKNOWN | Metabolism of Patients With Genetically Caused Cardiac Arrhythmia |
| NCT02814981 | Not specified | UNKNOWN | Hydroxyzine and Risk of Prolongation of QT Interval |
| NCT02876380 | Not specified | COMPLETED | Prospective Identification of Long QT Syndrome in Fetal Life |
| NCT03182777 | Not specified | COMPLETED | Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies |
| NCT03544918 | Not specified | COMPLETED | Prevalence of Congenital Long QT Syndrome and Acquired QT Prolongation in a Hospital Cohort |
| NCT03642405 | Not specified | UNKNOWN | Drug-induced Repolarization ECG Changes |
| NCT03678311 | Not specified | COMPLETED | Long QT Syndrome and Sleep Apnea |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): long QT syndrome