HRC
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Also known as MGC133236
Summary
HRC (histidine rich calcium binding protein, HGNC:5178) is a protein-coding gene on chromosome 19q13.33, encoding Sarcoplasmic reticulum histidine-rich calcium-binding protein (P23327). May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle.
This gene encodes a luminal sarcoplasmic reticulum protein identified by its ability to bind low-density lipoprotein with high affinity. The protein interacts with the cytoplasmic domain of triadin, the main transmembrane protein of the junctional sarcoplasmic reticulum (SR) of skeletal muscle. The protein functions in the regulation of releasable calcium into the SR.
Source: NCBI Gene 3270 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 117 total — 1 likely-pathogenic
- MANE Select transcript:
NM_002152
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5178 |
| Approved symbol | HRC |
| Name | histidine rich calcium binding protein |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC133236 |
| Ensembl gene | ENSG00000130528 |
| Ensembl biotype | protein_coding |
| OMIM | 142705 |
| Entrez | 3270 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron
ENST00000252825, ENST00000595167, ENST00000595625, ENST00000598858, ENST00000867157, ENST00000867158, ENST00000966424, ENST00000966425
RefSeq mRNA: 1 — MANE Select: NM_002152
NM_002152
CCDS: CCDS12759
Canonical transcript exons
ENST00000252825 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000896142 | 49153407 | 49155396 |
| ENSE00000896143 | 49153261 | 49153331 |
| ENSE00000896144 | 49152310 | 49152378 |
| ENSE00000896147 | 49152004 | 49152058 |
| ENSE00000896150 | 49151517 | 49151553 |
| ENSE00003090022 | 49151198 | 49151332 |
Expression profiles
Bgee: expression breadth ubiquitous, 178 present calls, max score 99.61.
FANTOM5 (CAGE): breadth broad, TPM avg 5.6527 / max 958.9746, expressed in 355 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 181992 | 5.6527 | 355 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 99.61 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 99.21 | gold quality |
| heart left ventricle | UBERON:0002084 | 99.18 | gold quality |
| cardiac ventricle | UBERON:0002082 | 99.17 | gold quality |
| right atrium auricular region | UBERON:0006631 | 99.09 | gold quality |
| cardiac atrium | UBERON:0002081 | 98.98 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.82 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.75 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 98.74 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.42 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.90 | gold quality |
| muscle of leg | UBERON:0001383 | 97.82 | gold quality |
| myocardium | UBERON:0002349 | 97.76 | gold quality |
| triceps brachii | UBERON:0001509 | 97.71 | gold quality |
| muscle organ | UBERON:0001630 | 97.43 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 97.43 | gold quality |
| heart | UBERON:0000948 | 96.90 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 96.50 | gold quality |
| quadriceps femoris | UBERON:0001377 | 96.40 | gold quality |
| vastus lateralis | UBERON:0001379 | 96.36 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 96.14 | gold quality |
| biceps brachii | UBERON:0001507 | 95.77 | gold quality |
| diaphragm | UBERON:0001103 | 95.01 | gold quality |
| deltoid | UBERON:0001476 | 94.96 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 94.43 | gold quality |
| muscle tissue | UBERON:0002385 | 94.40 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.25 | gold quality |
| vena cava | UBERON:0004087 | 91.58 | silver quality |
| body of tongue | UBERON:0011876 | 89.98 | silver quality |
| popliteal artery | UBERON:0002250 | 86.16 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.94 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): SOX15, SOX2
Literature-anchored findings (GeneRIF, showing 12)
- Results identify the HRC enhancer as the first MEF2-dependent, CArG-motif-independent transcriptional target in smooth muscle and represent the first analysis of the transcriptional regulation of a sarcoplasmic reticulum gene in vivo. (PMID:15082771)
- alterations in expression levels of HRC are associated with impaired cardiac SR Ca homeostasis and contractile function. (PMID:15191886)
- Histidine-rich Ca-binding protein may play a key role in the regulation of SR Ca cycling through its direct interactions with SERCA2 and triadin, mediating a fine cross talk between SR Ca uptake and release in the heart. (PMID:17526652)
- The Ser96Ala genetic variant of HRC is associated with life-threatening ventricular arrhythmias in idiopathic DCM and may serve as an independent predictor of susceptibility to arrhythmogenesis in the setting of DCM. (PMID:18617481)
- findings suggest that aberrant sarcoplasmic reticulum Ca2+ release and increased susceptibility to delayed afterdepolarizations underlie triggered arrhythmic activity in Ala96 HRC carriers (PMID:24125847)
- The S96A HRC mutation disrupts the Ca2+ -microdomain around the RyR2, as it alters the Ca2+ -dependent association of RyR2 and HRC. (PMID:24805197)
- Up-regulation of histidine-rich calcium binding protein promotes tumor metastasis in hepatocellular carcinoma and is mediated by SATB1. (PMID:25762622)
- this study demonstrates a role of HRC in promoting hepatocellular carcinoma (HCC) growth, besides its role in inducing HCC metastasis, and highlights HRC as a promising intervention target for HCC. (PMID:26176291)
- Histidine-rich Ca-binding protein (HRC) was phosphorylated by family with sequence similarity 20C (Fam20C) both in vitro and in vivo. (PMID:28784772)
- Ser96Ala genetic variant of the human histidine-rich calcium-binding protein is associated with recurrence in paroxysmal atrial fibrillation. (PMID:30840693)
- HRC promotes anoikis resistance and metastasis by suppressing endoplasmic reticulum stress in hepatocellular carcinoma. (PMID:34400882)
- Lack of Evidence for the Role of the p.(Ser96Ala) Polymorphism in Histidine-Rich Calcium Binding Protein as a Secondary Hit in Cardiomyopathies. (PMID:37958923)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hrc | ENSDARG00000045947 |
| mus_musculus | Hrc | ENSMUSG00000038239 |
| rattus_norvegicus | Hrc | ENSRNOG00000020719 |
Protein
Protein identifiers
Sarcoplasmic reticulum histidine-rich calcium-binding protein — P23327 (reviewed: P23327)
All UniProt accessions (3): P23327, M0QY84, M0QZ43
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in the regulation of calcium sequestration or release in the SR of skeletal and cardiac muscle.
Subcellular location. Sarcoplasmic reticulum lumen.
Similarity. Belongs to the HRC family.
RefSeq proteins (1): NP_002143* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015666 | HRC | Family |
| IPR019552 | Hist_rich_Ca-bd | Repeat |
Pfam: PF10529
UniProt features (43 total): compositionally biased region 15, repeat 10, modified residue 8, region of interest 5, sequence variant 3, signal peptide 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P23327-F1 | 50.20 | 0.02 |
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 (8): 76, 119, 145, 333, 358, 431, 494, 567
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-381426 | Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) |
| R-HSA-8957275 | Post-translational protein phosphorylation |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 146 (showing top):
MYOGENIN_Q6, GOBP_CIRCULATORY_SYSTEM_PROCESS, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, GOBP_RELAXATION_OF_CARDIAC_MUSCLE, DARWICHE_SQUAMOUS_CELL_CARCINOMA_UP, TGACCTY_ERR1_Q2, MODULE_329, CAGCTG_AP4_Q5, GNF2_MYL3, GOBP_REGULATION_OF_CARDIAC_MUSCLE_CONTRACTION_BY_REGULATION_OF_THE_RELEASE_OF_SEQUESTERED_CALCIUM_ION, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_STRIATED_MUSCLE_CONTRACTION, MODULE_120
GO Biological Process (10): regulation of heart rate (GO:0002027), muscle contraction (GO:0006936), positive regulation of heart rate (GO:0010460), regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880), regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881), positive regulation of heart contraction (GO:0045823), regulation of cytosolic calcium ion concentration (GO:0051480), regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844), positive regulation of relaxation of cardiac muscle (GO:1901899), regulation of calcium ion transmembrane transport (GO:1903169)
GO Molecular Function (4): calcium ion binding (GO:0005509), transmembrane transporter binding (GO:0044325), ATPase binding (GO:0051117), protein binding (GO:0005515)
GO Cellular Component (7): mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), cytosol (GO:0005829), Z disc (GO:0030018), sarcoplasmic reticulum lumen (GO:0033018), sarcoplasmic reticulum (GO:0016529)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of proteins | 2 |
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 3 |
| regulation of heart contraction | 2 |
| intracellular membrane-bounded organelle | 2 |
| endoplasmic reticulum | 2 |
| cellular anatomical structure | 2 |
| regulation of biological quality | 1 |
| muscle system process | 1 |
| regulation of heart rate | 1 |
| positive regulation of heart contraction | 1 |
| release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 1 |
| regulation of release of sequestered calcium ion into cytosol | 1 |
| regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 1 |
| regulation of cardiac muscle contraction by calcium ion signaling | 1 |
| heart contraction | 1 |
| positive regulation of blood circulation | 1 |
| intracellular calcium ion homeostasis | 1 |
| regulation of cell communication by electrical coupling | 1 |
| cell communication by electrical coupling involved in cardiac conduction | 1 |
| relaxation of cardiac muscle | 1 |
| positive regulation of relaxation of muscle | 1 |
| regulation of relaxation of cardiac muscle | 1 |
| regulation of calcium ion transport | 1 |
| calcium ion transmembrane transport | 1 |
| regulation of monoatomic cation transmembrane transport | 1 |
| metal ion binding | 1 |
| protein binding | 1 |
| enzyme binding | 1 |
| binding | 1 |
| endomembrane system | 1 |
| intracellular organelle lumen | 1 |
| I band | 1 |
| endoplasmic reticulum lumen | 1 |
| sarcoplasmic reticulum | 1 |
| sarcoplasm | 1 |
Protein interactions and networks
STRING
1280 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HRC | TRDN | Q13061 | 893 |
| HRC | SULT2A1 | Q06520 | 817 |
| HRC | ATP2A2 | P16614 | 692 |
| HRC | APOC2 | P02655 | 654 |
| HRC | KLK4 | Q9Y5K2 | 654 |
| HRC | HSF5 | Q4G112 | 570 |
| HRC | DRC8 | Q5VUJ9 | 517 |
| HRC | AGFG1 | P52594 | 462 |
| HRC | ASPH | Q12797 | 430 |
| HRC | MYBPH | Q13203 | 424 |
| HRC | RYR2 | Q92736 | 409 |
| HRC | HSF4 | Q9ULV5 | 405 |
| HRC | EDIL3 | O43854 | 403 |
| HRC | HSFY1 | Q96LI6 | 401 |
| HRC | KLHL30 | Q0D2K2 | 367 |
IntAct
13 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HRC | ZNF699 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HRC | ZNF791 | psi-mi:“MI:0914”(association) | 0.530 |
| Ryr2 | HRC | psi-mi:“MI:2364”(proximity) | 0.520 |
| HRC | Ryr2 | psi-mi:“MI:0403”(colocalization) | 0.520 |
| Ryr2 | HRC | psi-mi:“MI:0915”(physical association) | 0.520 |
| JUP | HRC | psi-mi:“MI:0915”(physical association) | 0.510 |
| Trdn | HRC | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRDN | HRC | psi-mi:“MI:0915”(physical association) | 0.400 |
| HRC | ZNF699 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (12): ZNF101 (Affinity Capture-MS), ZNF430 (Affinity Capture-MS), ZNF791 (Affinity Capture-MS), POF1B (Affinity Capture-MS), ZNF699 (Two-hybrid), TRDN (Reconstituted Complex), ZNF430 (Affinity Capture-MS), ZNF791 (Affinity Capture-MS), ZNF101 (Affinity Capture-MS), HRC (PCA), HRC (Proximity Label-MS), HRC (Proximity Label-MS)
ESM2 similar proteins: A0A0J9YWL9, A0A0J9YY54, A6QL64, B4DH59, D3YVF0, D3YZV8, D5LGE0, E2RYF7, E9Q6E9, O15069, O35930, O43493, O77733, O88799, P0DKJ7, P0DKJ8, P10322, P16225, P23327, P24587, P53353, P62521, Q14242, Q28139, Q2EG98, Q3BBV2, Q4ZJZ1, Q4ZJZ3, Q5HY64, Q5JPF3, Q5JRC9, Q5XHX6, Q62170, Q6JHY2, Q6P902, Q6ZQX7, Q7M4S9, Q86T75, Q8BVC1, Q8N2N9
Diamond homologs: P16230, P23327
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| FAM20C | “up-regulates activity” | HRC | phosphorylation |
| HRC | “down-regulates activity” | ATP2A2 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
117 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 90 |
| Likely benign | 18 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2582780 | Single allele | Likely pathogenic |
SpliceAI
637 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:49151333:CTGGA:C | acceptor_loss | 1.0000 |
| 19:49151334:T:C | acceptor_loss | 1.0000 |
| 19:49152054:CAGTG:C | acceptor_gain | 1.0000 |
| 19:49153404:TA:T | donor_loss | 1.0000 |
| 19:49153405:A:AC | donor_gain | 1.0000 |
| 19:49153405:AC:A | donor_gain | 1.0000 |
| 19:49153406:C:CC | donor_gain | 1.0000 |
| 19:49153406:C:CG | donor_loss | 1.0000 |
| 19:49153406:CC:C | donor_gain | 1.0000 |
| 19:49153406:CCT:C | donor_gain | 1.0000 |
| 19:49151331:CC:C | acceptor_gain | 0.9900 |
| 19:49151332:CC:C | acceptor_gain | 0.9900 |
| 19:49151333:C:CC | acceptor_gain | 0.9900 |
| 19:49151515:A:AC | donor_gain | 0.9900 |
| 19:49151516:C:CC | donor_gain | 0.9900 |
| 19:49152059:C:CC | acceptor_gain | 0.9900 |
| 19:49152374:CATCG:C | acceptor_gain | 0.9900 |
| 19:49152377:CG:C | acceptor_gain | 0.9900 |
| 19:49152379:C:CC | acceptor_gain | 0.9900 |
| 19:49153406:CCTG:C | donor_gain | 0.9900 |
| 19:49153406:CCTGT:C | donor_gain | 0.9900 |
| 19:49153424:T:A | donor_gain | 0.9900 |
| 19:49151328:GGGCC:G | acceptor_gain | 0.9800 |
| 19:49151329:GGCC:G | acceptor_gain | 0.9800 |
| 19:49151330:GCC:G | acceptor_gain | 0.9800 |
| 19:49151330:GCCC:G | acceptor_gain | 0.9800 |
| 19:49151331:CCC:C | acceptor_gain | 0.9800 |
| 19:49151998:GCTCA:G | donor_loss | 0.9800 |
| 19:49152000:TCACC:T | donor_loss | 0.9800 |
| 19:49152001:CA:C | donor_loss | 0.9800 |
AlphaMissense
4801 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:49152047:G:C | F661L | 0.994 |
| 19:49152047:G:T | F661L | 0.994 |
| 19:49152049:A:G | F661L | 0.994 |
| 19:49153265:C:T | C633Y | 0.994 |
| 19:49152314:C:G | C656S | 0.993 |
| 19:49152315:A:T | C656S | 0.993 |
| 19:49152374:C:G | C636S | 0.993 |
| 19:49152375:A:T | C636S | 0.993 |
| 19:49153265:C:G | C633S | 0.993 |
| 19:49153266:A:T | C633S | 0.993 |
| 19:49152037:A:G | C665R | 0.992 |
| 19:49152045:C:T | C662Y | 0.992 |
| 19:49152048:A:C | F661C | 0.992 |
| 19:49152350:C:G | C644S | 0.992 |
| 19:49152351:A:T | C644S | 0.992 |
| 19:49152365:C:G | C639S | 0.992 |
| 19:49152366:A:T | C639S | 0.992 |
| 19:49152044:G:C | C662W | 0.991 |
| 19:49152024:C:T | C669Y | 0.990 |
| 19:49152054:C:T | C659Y | 0.990 |
| 19:49152356:C:G | C642S | 0.990 |
| 19:49152357:A:T | C642S | 0.990 |
| 19:49152054:C:G | C659S | 0.989 |
| 19:49152055:A:T | C659S | 0.989 |
| 19:49152315:A:G | C656R | 0.989 |
| 19:49152323:C:G | C653S | 0.989 |
| 19:49152323:C:T | C653Y | 0.989 |
| 19:49152324:A:T | C653S | 0.989 |
| 19:49152350:C:T | C644Y | 0.989 |
| 19:49152366:A:G | C639R | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000176076 (19:49155832 T>G), RS1001165739 (19:49152463 C>G,T), RS1002428648 (19:49151691 C>G), RS1003238759 (19:49151925 A>G,T), RS1003597316 (19:49152146 G>A), RS1003774442 (19:49156959 C>A,G), RS1004346812 (19:49156208 T>C,G), RS1004648709 (19:49150895 T>A,C), RS1004674446 (19:49152737 T>A,C), RS1005005058 (19:49152964 C>G), RS1005416189 (19:49154929 G>C,T), RS1005601290 (19:49151837 G>A,C), RS1006090874 (19:49151671 T>C), RS1006615095 (19:49150939 T>G), RS1006831164 (19:49153316 T>C)
Disease associations
OMIM: gene MIM:142705 | disease phenotypes: MIM:113900, MIM:604559, MIM:601144
GenCC curated gene-disease
Mondo (3): progressive familial heart block, type 1A (MONDO:0007240), progressive familial heart block type IB (MONDO:0011474), Brugada syndrome (MONDO:0015263)
Orphanet (2): Brugada syndrome (Orphanet:130), Hereditary progressive cardiac conduction defect (Orphanet:871)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D053840 | Brugada Syndrome | C14.280.067.322; C14.280.123.250; C16.320.100 |
| D002037 | Bundle-Branch Block | C14.280.067.558.323; C14.280.123.500.323; C23.550.073.425.100 |
| C567037 | Progressive Familial Heart Block, Type Ib (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Doxorubicin | affects expression, decreases expression | 4 |
| Daunorubicin | decreases expression | 2 |
| Mitoxantrone | decreases expression | 2 |
| bisphenol A | increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| 2,7-dihydroxynaphthalene | decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Leflunomide | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Cannabidiol | decreases expression | 1 |
| Cisplatin | affects expression | 1 |
| Folic Acid | decreases expression | 1 |
| Toluene | decreases methylation, increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Vitamin D | decreases reaction, increases expression, increases phosphorylation | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
Clinical trials (associated diseases)
43 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00702117 | PHASE4 | COMPLETED | Ajmaline Utilization in the Diagnosis and Treatment of Cardiac Arrhythmias |
| NCT00701077 | PHASE3 | TERMINATED | DAPERB 3,4-DiAminoPyridine and Electrophysiological Response in Brugada Syndrome |
| NCT00927732 | PHASE3 | TERMINATED | Hydroquinidine Versus Placebo in Patients With Brugada Syndrome |
| NCT02933437 | PHASE2 | UNKNOWN | The Response To Ajmaline Provocation in Healthy Subjects |
| NCT07146880 | PHASE2 | NOT_YET_RECRUITING | Empagliflozin as a Potential Therapeutic Solution for Patients With Brugada Syndrome |
| NCT00292032 | Not specified | COMPLETED | Registry of Unexplained Cardiac Arrest |
| NCT02014961 | Not specified | UNKNOWN | Worm Study: Modifier Genes in Sudden Cardiac Death |
| NCT02052765 | Not specified | COMPLETED | AnalyST & Brugada Syndrome - Feasibility Study |
| NCT02302274 | Not specified | COMPLETED | Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome |
| NCT02344277 | Not specified | COMPLETED | Evaluation of Subcutaneous Implantable Cardiac Defibrillator in Brugada Patients |
| NCT02413450 | Not specified | ENROLLING_BY_INVITATION | Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias |
| NCT02641431 | Not specified | COMPLETED | Epicardial Ablation in Brugada Syndrome |
| NCT02704416 | Not specified | COMPLETED | Ablation in Brugada Syndrome for the Prevention of VF |
| NCT03182777 | Not specified | COMPLETED | Safety of Local Dental Anesthesia in Patients With Cardiac Channelopathies |
| NCT03435393 | Not specified | UNKNOWN | Ripple Mapping for Epicardial Mapping of Brugada Syndrome |
| NCT03485508 | Not specified | UNKNOWN | The Brugada Syndrome: a Follow-up Study |
| NCT03491475 | Not specified | UNKNOWN | Echocardiography During Ajmaline Test |
| NCT03524079 | Not specified | COMPLETED | Right Ventricle Morphology and Hemodynamics in BrS |
| NCT03764592 | Not specified | COMPLETED | VF Mapping in Brugada and Early Repolarization Syndromes |
| NCT03775954 | Not specified | RECRUITING | Fetal Electrophysiologic Abnormalities in High-Risk Pregnancies Associated With Fetal Demise |
| NCT03992677 | Not specified | COMPLETED | Feasibility of Improving Risk Stratification in Brugada Syndrome |
| NCT04124237 | Not specified | COMPLETED | Long Term Monitoring for Risk of Sudden Death |
| NCT04232787 | Not specified | UNKNOWN | Southeast Asian Brugada Syndrome Cohort |
| NCT04257994 | Not specified | RECRUITING | Distribution of Cell-cell Junction Proteins in Arrhythmic Disorders |
| NCT04420078 | Not specified | COMPLETED | Brugada Ablation of VF Substrate Ongoing MultiCenter Registry |
| NCT04580992 | Not specified | UNKNOWN | Defining the Electrocardiographic Effect of Propofol on the Ajmaline Provocation Drug Challenge: A Prospective Trial |
| NCT04650009 | Not specified | COMPLETED | Physical Activity in Children With Inherited Cardiac Diseases |
| NCT04712136 | Not specified | COMPLETED | Healthy-related Quality of Life and Physical Activity of Children With Cardiac Malformations |
| NCT04808193 | Not specified | UNKNOWN | European Perioperative Brugada Survey |
| NCT05048602 | Not specified | UNKNOWN | Drug-induced Brugada Syndrome Research Database |
| NCT05274646 | Not specified | COMPLETED | Impact on Risk Stratification of Overlap Syndrome Phenotype in Patients With E1784K Mutation in SCN5A |
| NCT05283759 | Not specified | RECRUITING | UZ Brussel HRMC Registry of Brugada Syndrome |
| NCT05521451 | Not specified | RECRUITING | Clinical Cohort Study - TRUST |
| NCT05643209 | Not specified | RECRUITING | Brugada Syndrome Substrate Characterization and Ablation |
| NCT05685134 | Not specified | COMPLETED | Epicardial Radiofrequency Catheter Ablation in Patients With Brugada Syndrome |
| NCT06376552 | Not specified | COMPLETED | Artificial Intelligence for the Prioritization of Genetic Background in Brugada Syndrome |
| NCT06546137 | Not specified | RECRUITING | National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil’s Unified Health System Through a Multicenter Registry |
| NCT06567639 | Not specified | COMPLETED | High Density Mapping in Brugada Syndrome |
| NCT06647927 | Not specified | RECRUITING | GenLab: Unveiling the Genetic Landscape of Brugada Syndrome: Novel Biomarker Discovery for Precise Diagnosis |
| NCT06653504 | Not specified | COMPLETED | The Conus Brugada Syndrome Study |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Brugada syndrome, progressive familial heart block type IB, progressive familial heart block, type 1A