SNAPC5
gene geneOn this page
Also known as SNAP19
Summary
SNAPC5 (small nuclear RNA activating complex polypeptide 5, HGNC:15484) is a protein-coding gene on chromosome 15q22.31, encoding snRNA-activating protein complex subunit 5 (O75971). Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. It is a common-essential gene (DepMap: required in 98.8% of cancer cell lines).
This gene encodes a subunit of the small nuclear RNA (snRNA)-activating protein complex that plays a role in the transcription of snRNA genes. This complex binds to the promoters of snRNA genes transcribed by either RNA polymerase II or III and recruits other regulatory factors to activate snRNA gene transcription. The encoded protein may play a role in stabilizing this complex. A pseudogene of this gene has been identified on chromosome 6.
Source: NCBI Gene 10302 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 33 total
- Cancer dependency (DepMap): dependent in 98.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001329615
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15484 |
| Approved symbol | SNAPC5 |
| Name | small nuclear RNA activating complex polypeptide 5 |
| Location | 15q22.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SNAP19 |
| Ensembl gene | ENSG00000174446 |
| Ensembl biotype | protein_coding |
| OMIM | 605979 |
| Entrez | 10302 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 5 protein_coding, 3 nonsense_mediated_decay
ENST00000307979, ENST00000316634, ENST00000395589, ENST00000562411, ENST00000563480, ENST00000565465, ENST00000566658, ENST00000568875
RefSeq mRNA: 4 — MANE Select: NM_001329615
NM_001329613, NM_001329614, NM_001329615, NM_006049
CCDS: CCDS10217, CCDS86469
Canonical transcript exons
ENST00000316634 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001406569 | 66493468 | 66494552 |
| ENSE00002214319 | 66497642 | 66497762 |
| ENSE00003572321 | 66495330 | 66495419 |
Expression profiles
Bgee: expression breadth ubiquitous, 299 present calls, max score 96.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.4002 / max 204.9543, expressed in 1806 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150594 | 18.8580 | 1806 |
| 150595 | 0.5422 | 296 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 96.96 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 95.81 | gold quality |
| sperm | CL:0000019 | 95.48 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.45 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.44 | gold quality |
| eye | UBERON:0000970 | 95.07 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.06 | gold quality |
| muscle of leg | UBERON:0001383 | 94.76 | gold quality |
| male germ cell | CL:0000015 | 94.61 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 94.55 | gold quality |
| vastus lateralis | UBERON:0001379 | 94.53 | gold quality |
| muscle organ | UBERON:0001630 | 94.50 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 94.50 | gold quality |
| gluteal muscle | UBERON:0002000 | 94.40 | gold quality |
| prefrontal cortex | UBERON:0000451 | 94.35 | gold quality |
| biceps brachii | UBERON:0001507 | 94.31 | gold quality |
| corpus epididymis | UBERON:0004359 | 94.13 | gold quality |
| quadriceps femoris | UBERON:0001377 | 94.12 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.06 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.05 | gold quality |
| parotid gland | UBERON:0001831 | 94.01 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.97 | gold quality |
| hair follicle | UBERON:0002073 | 93.95 | gold quality |
| amniotic fluid | UBERON:0000173 | 93.93 | gold quality |
| deltoid | UBERON:0001476 | 93.92 | gold quality |
| putamen | UBERON:0001874 | 93.80 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 93.78 | gold quality |
| myocardium | UBERON:0002349 | 93.76 | gold quality |
| retina | UBERON:0000966 | 93.75 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.75 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 6.69 |
Regulation
Is transcription factor: no
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 98.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- Kaplan-Meir analysis of GSE7696 indicate that COL3A1 and SNAP91 correlated with survival. (PMID:27655637)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | snapc5 | ENSDARG00000062476 |
| mus_musculus | Snapc5 | ENSMUSG00000032398 |
| rattus_norvegicus | Snapc5 | ENSRNOG00000010156 |
Protein
Protein identifiers
snRNA-activating protein complex subunit 5 — O75971 (reviewed: O75971)
Alternative names: Small nuclear RNA-activating complex polypeptide 5, snRNA-activating protein complex 19 kDa subunit
All UniProt accessions (3): O75971, H3BQA0, H3BSI3
UniProt curated annotations — full annotation on UniProt →
Function. Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box.
Subunit / interactions. Part of the SNAPc complex composed of 5 subunits: SNAPC1, SNAPC2, SNAPC3, SNAPC4 and SNAPC5. SNAPC5 interacts with SNAPC4.
Subcellular location. Nucleus.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O75971-1 | 1 | yes |
| O75971-2 | 2 |
RefSeq proteins (4): NP_001316542, NP_001316543, NP_001316544, NP_006040 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029138 | SNAPC5 | Family |
Pfam: PF15497
UniProt features (10 total): compositionally biased region 2, mutagenesis site 2, chain 1, region of interest 1, modified residue 1, splice variant 1, helix 1, turn 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7ZWD | ELECTRON MICROSCOPY | 3 |
| 7ZX8 | ELECTRON MICROSCOPY | 3 |
| 7ZWC | ELECTRON MICROSCOPY | 3.2 |
| 7ZX7 | ELECTRON MICROSCOPY | 3.4 |
| 7ZXE | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O75971-F1 | 76.78 | 0.41 |
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): 85
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 8 | reduced snapc4 binding in both the presence or absence of snapc1. |
| 18 | minimal effect on snapc4 binding in the absence of snapc1. reduced snapc4 binding in the presence of snapc1. |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-6807505 | RNA polymerase II transcribes snRNA genes |
| R-HSA-749476 | RNA Polymerase III Abortive And Retractive Initiation |
| R-HSA-76071 | RNA Polymerase III Transcription Initiation From Type 3 Promoter |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74158 | RNA Polymerase III Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-76046 | RNA Polymerase III Transcription Initiation |
MSigDB gene sets: 150 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, REACTOME_RNA_POLYMERASE_III_TRANSCRIPTION_INITIATION_FROM_TYPE_3_PROMOTER, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, MODULE_308, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, CREB_Q2_01, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, SCHLOSSER_SERUM_RESPONSE_DN, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, MODULE_124, NUYTTEN_EZH2_TARGETS_DN, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, MARSON_BOUND_BY_E2F4_UNSTIMULATED, BLALOCK_ALZHEIMERS_DISEASE_DN
GO Biological Process (4): transcription initiation at RNA polymerase III promoter (GO:0006384), snRNA transcription by RNA polymerase II (GO:0042795), snRNA transcription by RNA polymerase III (GO:0042796), transcription by RNA polymerase II (GO:0006366)
GO Molecular Function (3): RNA polymerase III general transcription initiation factor activity (GO:0000995), RNA polymerase II general transcription initiation factor activity (GO:0016251), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), nuclear body (GO:0016604)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase III Transcription | 2 |
| Gene expression (Transcription) | 2 |
| RNA Polymerase II Transcription | 1 |
| RNA Polymerase III Transcription Initiation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase III | 3 |
| transcription by RNA polymerase II | 2 |
| snRNA transcription | 2 |
| general transcription initiation factor activity | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| DNA-templated transcription initiation | 1 |
| DNA-templated transcription | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| nucleoplasm | 1 |
Protein interactions and networks
STRING
324 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SNAPC5 | SNAPC4 | Q5SXM2 | 989 |
| SNAPC5 | SNAPC2 | Q13487 | 988 |
| SNAPC5 | SNAPC1 | Q16533 | 984 |
| SNAPC5 | SNAPC3 | Q92966 | 983 |
| SNAPC5 | TBP | P20226 | 558 |
| SNAPC5 | LCTL | Q6UWM7 | 518 |
| SNAPC5 | PASK | Q96RG2 | 471 |
| SNAPC5 | BRF2 | Q9HAW0 | 447 |
| SNAPC5 | POLR3D | P05423 | 445 |
| SNAPC5 | TEX261 | Q6UWH6 | 436 |
| SNAPC5 | TM2D2 | Q9BX73 | 415 |
| SNAPC5 | DTYMK | P23919 | 412 |
| SNAPC5 | CAPN15 | O75808 | 407 |
| SNAPC5 | RRP9 | O43818 | 393 |
| SNAPC5 | TMEM178A | Q8NBL3 | 393 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SNAPC5 | NMI | psi-mi:“MI:0915”(physical association) | 0.740 |
| NMI | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SNAPC1 | SNAPC5 | psi-mi:“MI:0914”(association) | 0.740 |
| SNAPC1 | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SNAPC4 | SNAPC5 | psi-mi:“MI:0914”(association) | 0.620 |
| SNAPC4 | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.620 |
| ZNRD2 | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDIT3 | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNAPC5 | NUP62 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNAPC5 | AMOT | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUDT10 | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOL4 | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYTH4 | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNAPC5 | NDEL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNAPC5 | ZNRD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUP62 | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AMOT | SNAPC5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNAPC5 | NUDT10 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (60): SNAPC5 (Two-hybrid), SNAPC5 (Two-hybrid), SNAPC5 (Two-hybrid), SSSCA1 (Two-hybrid), NUP62 (Two-hybrid), CYTH4 (Two-hybrid), NDEL1 (Two-hybrid), AMOT (Two-hybrid), NUDT10 (Two-hybrid), SNAPC5 (Affinity Capture-MS), BATF (Two-hybrid), BRCC3 (Two-hybrid), SNAPC5 (Two-hybrid), SNAPC5 (Two-hybrid), NMI (Two-hybrid)
ESM2 similar proteins: A0JNH9, A1L162, A2VCV0, A6QQ66, B3NLX1, B4P6W7, B8QB46, O75496, O75971, O88513, P32447, P51860, P53911, P85107, Q03563, Q04996, Q2T9W9, Q3UYG8, Q4VA55, Q5H9M0, Q5RD97, Q5W0B1, Q5ZMS4, Q60524, Q641E3, Q65Z40, Q66H73, Q6AWX6, Q6BKL0, Q6DFV7, Q6KAQ7, Q6PG04, Q6TXG9, Q794H2, Q7X9V2, Q7Z5K2, Q8INT5, Q8IW19, Q8IYH5, Q8L7S0
Diamond homologs: O75971, Q29S17, Q8R2K7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SNAPC5 | “form complex” | SNAPC | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 4 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
614 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:66490497:TGCA:T | acceptor_loss | 1.0000 |
| 15:66490498:GCAG:G | acceptor_loss | 1.0000 |
| 15:66490500:A:AT | acceptor_loss | 1.0000 |
| 15:66490501:GGTTC:G | acceptor_gain | 1.0000 |
| 15:66494432:T:TA | donor_gain | 1.0000 |
| 15:66494455:T:TA | donor_gain | 1.0000 |
| 15:66490494:A:AG | acceptor_gain | 0.9900 |
| 15:66490495:C:G | acceptor_gain | 0.9900 |
| 15:66490496:A:AG | acceptor_gain | 0.9900 |
| 15:66490496:AT:A | acceptor_gain | 0.9900 |
| 15:66490497:T:G | acceptor_gain | 0.9900 |
| 15:66490500:A:AG | acceptor_gain | 0.9900 |
| 15:66490500:AG:A | acceptor_gain | 0.9900 |
| 15:66490501:G:GG | acceptor_gain | 0.9900 |
| 15:66490501:GG:G | acceptor_gain | 0.9900 |
| 15:66490501:GGTT:G | acceptor_gain | 0.9900 |
| 15:66494413:ACCAG:A | donor_gain | 0.9900 |
| 15:66494414:CCAGC:C | donor_gain | 0.9900 |
| 15:66494461:T:TA | donor_gain | 0.9900 |
| 15:66490137:C:CG | donor_gain | 0.9800 |
| 15:66490144:A:AG | donor_gain | 0.9800 |
| 15:66490494:ACAT:A | acceptor_gain | 0.9800 |
| 15:66490497:T:TA | acceptor_gain | 0.9800 |
| 15:66490501:GGT:G | acceptor_gain | 0.9800 |
| 15:66494426:T:A | donor_gain | 0.9800 |
| 15:66497637:GTCA:G | donor_loss | 0.9800 |
| 15:66497638:TCA:T | donor_loss | 0.9800 |
| 15:66497639:CA:C | donor_loss | 0.9800 |
| 15:66497640:A:AC | donor_loss | 0.9800 |
| 15:66497641:C:CT | donor_loss | 0.9800 |
AlphaMissense
636 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:66497709:A:G | L8P | 0.998 |
| 15:66495403:A:G | L36P | 0.995 |
| 15:66497649:C:G | R28P | 0.995 |
| 15:66497655:A:G | L26P | 0.995 |
| 15:66497667:A:G | L22P | 0.995 |
| 15:66497646:A:G | L29P | 0.994 |
| 15:66497646:A:T | L29H | 0.993 |
| 15:66497718:A:G | L5P | 0.993 |
| 15:66495403:A:T | L36H | 0.992 |
| 15:66497642:C:A | K30N | 0.991 |
| 15:66497642:C:G | K30N | 0.991 |
| 15:66497650:G:T | R28S | 0.991 |
| 15:66497679:A:G | L18S | 0.989 |
| 15:66497706:C:G | R9P | 0.988 |
| 15:66497723:G:C | S3R | 0.987 |
| 15:66497723:G:T | S3R | 0.987 |
| 15:66497725:T:G | S3R | 0.987 |
| 15:66495415:T:A | E32V | 0.986 |
| 15:66497688:A:T | L15Q | 0.986 |
| 15:66497675:C:A | K19N | 0.985 |
| 15:66497675:C:G | K19N | 0.985 |
| 15:66497709:A:T | L8Q | 0.985 |
| 15:66497674:C:G | A20P | 0.984 |
| 15:66497685:A:G | L16P | 0.984 |
| 15:66497671:C:G | A21P | 0.982 |
| 15:66497688:A:G | L15P | 0.982 |
| 15:66494521:A:G | I71T | 0.981 |
| 15:66497667:A:T | L22Q | 0.981 |
| 15:66495407:C:G | A35P | 0.980 |
| 15:66497718:A:T | L5H | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000114741 (15:66498688 C>G,T), RS1000225167 (15:66495960 C>A,T), RS1000464745 (15:66493807 G>T), RS1000575684 (15:66496334 A>G), RS1000615099 (15:66497138 A>G), RS1000964707 (15:66497350 T>C), RS1001413604 (15:66492308 T>A), RS1001567249 (15:66497872 T>C,G), RS1001671524 (15:66498952 G>C), RS1002000334 (15:66498027 A>C), RS1002207676 (15:66498755 G>A,C,T), RS1002237721 (15:66498314 G>C,T), RS1002336616 (15:66492556 A>C,T), RS1002462355 (15:66495511 T>C), RS1002599699 (15:66495278 G>A,C)
Disease associations
OMIM: gene MIM:605979 | disease phenotypes: MIM:155950, MIM:615279
GenCC curated gene-disease
Mondo (4): melorheostosis (MONDO:0007970), cardiofaciocutaneous syndrome 3 (MONDO:0014113), RASopathy (MONDO:0021060), long QT syndrome (MONDO:0002442)
Orphanet (3): Cardiofaciocutaneous syndrome (Orphanet:1340), Melorheostosis (Orphanet:2485), RASopathy (Orphanet:536391)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
| D008557 | Melorheostosis | C05.116.099.708.702.593 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| trichostatin A | affects expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| pentanal | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Naled | affects expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Silicon Dioxide | decreases methylation | 1 |
| Smoke | decreases expression | 1 |
| Taurine | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Clinical trials (associated diseases)
77 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 |
| NCT00076830 | Not specified | COMPLETED | Evaluation and Treatment of Patients With Connective Tissue Disease |
| NCT07521150 | Not specified | NOT_YET_RECRUITING | Physiotherapy and Rehabilitation in Melorheostosis: A Case Report |
| NCT04888936 | Not specified | RECRUITING | Clinical, Genetic, and Epidemiologic Study of Children and Adults With RASopathies |
| NCT05761314 | Not specified | RECRUITING | Solid Tumors in RASopathies |
| NCT06331117 | Not specified | UNKNOWN | Effect of RAS/MAPK Pathway Hyperactivation on Growth’ and Bone’ Profile of the RASopathies |
| NCT06355622 | Not specified | UNKNOWN | Prevalence and Characterization of Pain in RASopathies |
| NCT06489067 | Not specified | RECRUITING | Study of the Thyroid Function and Echostructural Morphology in Patients Affected With Rasopathies (ECORAS2023) |
| NCT06776380 | Not specified | RECRUITING | Pubertal Development in Patients with RASopathies |
| NCT07005297 | Not specified | NOT_YET_RECRUITING | Clinical Genetics Branch Eligibility Screening Survey |
| NCT07344480 | Not specified | RECRUITING | Retrospective Natural History Study of RASopathy-associated Cardiomyopathy (RAS-CM) |
| NCT07464821 | Not specified | RECRUITING | National Multicentre Study on Lipid Profile in Noonan Syndrome and Related Disorders: Trends by Age, Gender and Genotype |
| 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 |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cardiofaciocutaneous syndrome 3, long QT syndrome, melorheostosis, RASopathy