TLNRD1
geneOn this page
Also known as MGC99595
Summary
TLNRD1 (talin rod domain containing 1, HGNC:13519) is a protein-coding gene on chromosome 15q25.1, encoding Talin rod domain-containing protein 1 (Q9H1K6). Actin-binding protein which may have an oncogenic function and regulates cell proliferation, migration and invasion in cancer cells.
This gene encodes a protein that is regulated by micro RNA MiR-574-3, and is thought to have an oncogenic function in human bladder cancer. A similar gene in mouse is located in a chromosomal region critical for differentiation of mesoderm, which affects embryo patterning and the formation of heart, muscle, blood, skeleton and the urogenital system. The mouse gene is expressed in early development, and in the adult.
Source: NCBI Gene 59274 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 64 total
- MANE Select transcript:
NM_022566
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:13519 |
| Approved symbol | TLNRD1 |
| Name | talin rod domain containing 1 |
| Location | 15q25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC99595 |
| Ensembl gene | ENSG00000140406 |
| Ensembl biotype | protein_coding |
| OMIM | 615466 |
| Entrez | 59274 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000267984
RefSeq mRNA: 1 — MANE Select: NM_022566
NM_022566
CCDS: CCDS10316
Canonical transcript exons
ENST00000267984 — 1 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000942934 | 81000923 | 81005788 |
Expression profiles
Bgee: expression breadth ubiquitous, 249 present calls, max score 95.64.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.0157 / max 133.1378, expressed in 1809 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 148053 | 8.4281 | 1760 |
| 148054 | 5.8000 | 1700 |
| 148055 | 3.7876 | 970 |
Top tissues by expression
253 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ileal mucosa | UBERON:0000331 | 95.64 | gold quality |
| lower lobe of lung | UBERON:0008949 | 93.59 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 91.34 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 91.06 | gold quality |
| pericardium | UBERON:0002407 | 90.88 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 90.82 | gold quality |
| mammary duct | UBERON:0001765 | 90.81 | gold quality |
| pylorus | UBERON:0001166 | 90.68 | gold quality |
| kidney epithelium | UBERON:0004819 | 90.11 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.03 | gold quality |
| cerebellar vermis | UBERON:0004720 | 88.89 | gold quality |
| cauda epididymis | UBERON:0004360 | 88.72 | gold quality |
| cardia of stomach | UBERON:0001162 | 88.68 | gold quality |
| corpus epididymis | UBERON:0004359 | 88.65 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 88.53 | gold quality |
| retina | UBERON:0000966 | 88.51 | gold quality |
| vena cava | UBERON:0004087 | 88.26 | gold quality |
| superficial temporal artery | UBERON:0001614 | 87.85 | gold quality |
| decidua | UBERON:0002450 | 87.05 | gold quality |
| upper arm skin | UBERON:0004263 | 87.05 | silver quality |
| pharyngeal mucosa | UBERON:0000355 | 87.00 | gold quality |
| parotid gland | UBERON:0001831 | 86.96 | silver quality |
| synovial joint | UBERON:0002217 | 86.74 | gold quality |
| cartilage tissue | UBERON:0002418 | 86.43 | gold quality |
| colonic mucosa | UBERON:0000317 | 86.30 | gold quality |
| myocardium | UBERON:0002349 | 86.26 | silver quality |
| trachea | UBERON:0003126 | 86.25 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 86.25 | gold quality |
| thymus | UBERON:0002370 | 86.17 | gold quality |
| seminal vesicle | UBERON:0000998 | 85.91 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.79 |
| E-CURD-10 | no | 117.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
102 targeting TLNRD1, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-4760-3P | 99.93 | 70.50 | 2385 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
Literature-anchored findings (GeneRIF, showing 2)
- Authors demonstrate that miR-574-3p is a miRNA with tumor suppressor function and that MESDC1 (which has a potential oncogenic function in BC) may be targeted by miR-574-3p. (PMID:22179486)
- Talin rod domain-containing protein 1 (TLNRD1) is a novel actin-bundling protein which promotes filopodia formation. (PMID:34264272)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tlnrd1 | ENSDARG00000079017 |
| mus_musculus | Tlnrd1 | ENSMUSG00000070462 |
| rattus_norvegicus | Tlnrd1 | ENSRNOG00000012349 |
| drosophila_melanogaster | rhea | FBGN0260442 |
| caenorhabditis_elegans | tln-1 | WBGENE00006771 |
Paralogs (2): TLN1 (ENSG00000137076), TLN2 (ENSG00000171914)
Protein
Protein identifiers
Talin rod domain-containing protein 1 — Q9H1K6 (reviewed: Q9H1K6)
Alternative names: Mesoderm development candidate 1
All UniProt accessions (1): Q9H1K6
UniProt curated annotations — full annotation on UniProt →
Function. Actin-binding protein which may have an oncogenic function and regulates cell proliferation, migration and invasion in cancer cells.
Subunit / interactions. May homodimerize. Interacts with F-actin.
Induction. Down-regulated by microRNA MIR574-3p.
RefSeq proteins (1): NP_072088* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR042799 | TLNRD1 | Family |
| IPR054082 | Talin_IBS2B | Domain |
Pfam: PF21896
UniProt features (21 total): helix 12, strand 3, initiator methionine 1, chain 1, turn 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6XZ3 | X-RAY DIFFRACTION | 2.19 |
| 6XZ4 | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H1K6-F1 | 88.40 | 0.79 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 150 (showing top):
AREB6_03, AP4_Q6, CREBP1_Q2, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, CREB_Q4, HIF1_Q3, ATF4_Q2, GOMF_ACTIN_BINDING, LEF1_Q6, YAMAZAKI_TCEB3_TARGETS_UP, CCCNNGGGAR_OLF1_01, AP2_Q6_01, ATGTTTC_MIR494, GOCC_ACTIN_FILAMENT_BUNDLE
GO Biological Process (0):
GO Molecular Function (3): actin binding (GO:0003779), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (1): stress fiber (GO:0001725)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoskeletal protein binding | 1 |
| protein binding | 1 |
| binding | 1 |
| actomyosin | 1 |
| contractile actin filament bundle | 1 |
Protein interactions and networks
STRING
484 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TLNRD1 | MESD | Q14696 | 548 |
| TLNRD1 | VCL | P18206 | 413 |
| TLNRD1 | KANK1 | Q14678 | 383 |
| TLNRD1 | ZNF736 | B4DX44 | 370 |
| TLNRD1 | TMC3 | Q7Z5M5 | 367 |
| TLNRD1 | ITGB8 | P26012 | 348 |
| TLNRD1 | SCAND1 | P57086 | 344 |
| TLNRD1 | NALCN | Q8IZF0 | 330 |
| TLNRD1 | UTP3 | Q9NQZ2 | 330 |
| TLNRD1 | J3QSS9 | J3QSS9 | 329 |
| TLNRD1 | ZNF140 | P52738 | 323 |
| TLNRD1 | MOSMO | Q8NHV5 | 323 |
| TLNRD1 | COX19 | Q49B96 | 320 |
| TLNRD1 | KANSL1L | A0AUZ9 | 317 |
| TLNRD1 | ILK | P57043 | 310 |
IntAct
23 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CCM2 | KRIT1 | psi-mi:“MI:0914”(association) | 0.960 |
| CCM2 | TLNRD1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| MAFK | BACH1 | psi-mi:“MI:0914”(association) | 0.730 |
| CDC123 | EIF2S2 | psi-mi:“MI:0914”(association) | 0.710 |
| SH2B2 | TLNRD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLNRD1 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLNRD1 | TLNRD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLNRD1 | KRIT1 | psi-mi:“MI:0914”(association) | 0.530 |
| PLA2G5 | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| CCL15 | MLYCD | psi-mi:“MI:0914”(association) | 0.350 |
| AVPR2 | ATP9B | psi-mi:“MI:0914”(association) | 0.350 |
| CHI3L1 | IGF1R | psi-mi:“MI:0914”(association) | 0.350 |
| IL12A | PTX3 | psi-mi:“MI:0914”(association) | 0.350 |
| TLNRD1 | STK25 | psi-mi:“MI:0914”(association) | 0.350 |
| TLNRD1 | SH2B2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TLNRD1 | CCM2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TLNRD1 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| TLNRD1 | TLNRD1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (16): MESDC1 (Affinity Capture-RNA), MESDC1 (Two-hybrid), MESDC1 (Two-hybrid), MESDC1 (Two-hybrid), SH2B2 (Two-hybrid), MESDC1 (Positive Genetic), MESDC1 (Negative Genetic), CCM2 (Affinity Capture-MS), MESDC1 (Affinity Capture-MS), ITGB1BP1 (Affinity Capture-MS), MESDC1 (Affinity Capture-MS), KRIT1 (Affinity Capture-MS), MESDC1 (Affinity Capture-RNA), MESDC1 (Cross-Linking-MS (XL-MS)), ZNF257 (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A0A3B6UES5, A0A3G2LGI8, D3ZHV2, G8JYB2, O46037, O60437, P0CE94, P0CE95, P11533, P12003, P18206, P19826, P26039, P26231, P26234, P30427, P33338, P35220, P35221, P54939, P85972, P90947, Q02328, Q03001, Q04615, Q15149, Q17162, Q3MHM6, Q54K81, Q54MH2, Q59I72, Q64727, Q6ZWR6, Q71LX4, Q8MSU4, Q91ZU6, Q95XZ0, Q9ERE8, Q9H1K6, Q9MBF8
Diamond homologs: Q9ERE8, Q9H1K6
SIGNOR signaling
0 interactions.
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 | 59 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
75 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:81001081:G:GT | donor_gain | 0.9900 |
| 15:81001148:G:GT | donor_gain | 0.9500 |
| 15:81001007:A:T | donor_gain | 0.8700 |
| 15:81001006:G:GT | donor_gain | 0.8300 |
| 15:81001087:G:GT | donor_gain | 0.8200 |
| 15:81001081:G:T | donor_gain | 0.8000 |
| 15:81001092:T:G | donor_gain | 0.7800 |
| 15:81001091:T:TG | donor_gain | 0.7500 |
| 15:81001077:A:T | donor_gain | 0.7400 |
| 15:81001086:G:A | donor_gain | 0.7300 |
| 15:81001090:G:A | donor_gain | 0.7300 |
| 15:81001238:G:GT | donor_gain | 0.6900 |
| 15:81001082:A:T | donor_gain | 0.6800 |
| 15:81003298:GCTT:G | donor_gain | 0.6700 |
| 15:81001084:GCGG:G | donor_gain | 0.6600 |
| 15:81001089:T:TA | donor_gain | 0.6600 |
| 15:81001056:CCGAG:C | donor_loss | 0.6500 |
| 15:81001057:CGAG:C | donor_loss | 0.6500 |
| 15:81001058:GAGGT:G | donor_loss | 0.6500 |
| 15:81001059:AGG:A | donor_loss | 0.6500 |
| 15:81001060:GGTG:G | donor_loss | 0.6500 |
| 15:81001061:GTG:G | donor_loss | 0.6500 |
| 15:81001062:T:G | donor_loss | 0.6500 |
| 15:81001083:AGCG:A | donor_gain | 0.6300 |
| 15:81001148:G:T | donor_gain | 0.6300 |
| 15:81001172:C:T | donor_gain | 0.6300 |
| 15:81001063:G:GT | donor_gain | 0.5900 |
| 15:81001055:TCCGA:T | donor_loss | 0.5800 |
| 15:81001323:G:T | donor_gain | 0.5800 |
| 15:81001063:GAA:G | donor_loss | 0.5700 |
AlphaMissense
2305 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:81002532:G:C | K87N | 1.000 |
| 15:81002532:G:T | K87N | 1.000 |
| 15:81002543:T:C | I91T | 1.000 |
| 15:81003143:G:A | G291D | 1.000 |
| 15:81002414:C:A | A48D | 0.999 |
| 15:81002537:T:A | L89H | 0.999 |
| 15:81002537:T:C | L89P | 0.999 |
| 15:81002543:T:A | I91N | 0.999 |
| 15:81002543:T:G | I91S | 0.999 |
| 15:81002636:T:C | L122P | 0.999 |
| 15:81002656:G:C | A129P | 0.999 |
| 15:81002660:C:A | A130D | 0.999 |
| 15:81002662:T:G | Y131D | 0.999 |
| 15:81002912:T:C | F214S | 0.999 |
| 15:81003065:C:A | A265D | 0.999 |
| 15:81003139:G:C | G290R | 0.999 |
| 15:81003140:G:A | G290D | 0.999 |
| 15:81003149:T:C | M293T | 0.999 |
| 15:81003150:G:A | M293I | 0.999 |
| 15:81003150:G:C | M293I | 0.999 |
| 15:81003150:G:T | M293I | 0.999 |
| 15:81003151:A:C | S294R | 0.999 |
| 15:81003153:C:A | S294R | 0.999 |
| 15:81003153:C:G | S294R | 0.999 |
| 15:81003164:C:A | A298D | 0.999 |
| 15:81003166:T:C | C299R | 0.999 |
| 15:81003176:T:C | L302P | 0.999 |
| 15:81003277:G:C | G336R | 0.999 |
| 15:81003278:G:A | G336D | 0.999 |
| 15:81003290:T:C | L340P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1001066427 (15:81003631 C>T), RS1001604444 (15:81005747 A>G,T), RS1002230626 (15:81003992 T>A), RS1002361611 (15:80999372 G>A,C), RS1002412511 (15:80999137 T>C,G), RS1002456163 (15:81006050 T>C), RS1002817227 (15:81003063 C>A,T), RS1002881777 (15:81004243 T>G), RS1003557142 (15:81002201 C>A,T), RS1003938731 (15:81006044 A>C,G), RS1004325045 (15:81000628 G>C,T), RS1005037685 (15:81005663 A>C), RS1005588418 (15:81001541 G>C), RS1005817894 (15:80999783 G>A,C,T), RS1005849846 (15:81002756 A>G,T)
Disease associations
OMIM: gene MIM:615466 | 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
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005951_10 | Body mass index | 2.000000e-08 |
| GCST010866_63 | Coronary artery disease | 4.000000e-10 |
| GCST011365_109 | Myocardial infarction | 7.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
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
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, decreases methylation | 4 |
| Benzo(a)pyrene | increases expression | 2 |
| Nickel | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| Aflatoxin B1 | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bisphenol A | increases expression | 1 |
| lead acetate | increases expression | 1 |
| methylparaben | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| ferrous chloride | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| cupric oxide | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| ICG 001 | decreases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Coumestrol | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Melphalan | increases expression | 1 |
| Smoke | 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): coronary artery disorder, long QT syndrome, myocardial infarction