CAVIN4

gene
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Also known as cavin-4

Summary

CAVIN4 (caveolae associated protein 4, HGNC:33742) is a protein-coding gene on chromosome 9q31.1, encoding Caveolae-associated protein 4 (Q5BKX8). Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation.

This gene encodes a protein containing two coiled-coil regions. The encoded protein promotes Rho/ROCK (Rho-kinase) signaling in cardiac muscles cells, and may facilitate myofibrillar organization.

Source: NCBI Gene 347273 — RefSeq curated summary.

At a glance

  • GWAS associations: 3
  • Clinical variants (ClinVar): 125 total
  • Phenotypes (HPO): 1
  • MANE Select transcript: NM_001018116

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:33742
Approved symbolCAVIN4
Namecaveolae associated protein 4
Location9q31.1
Locus typegene with protein product
StatusApproved
Aliasescavin-4
Ensembl geneENSG00000170681
Ensembl biotypeprotein_coding
OMIM617714
Entrez347273

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000307584, ENST00000956994

RefSeq mRNA: 1 — MANE Select: NM_001018116 NM_001018116

CCDS: CCDS35083

Canonical transcript exons

ENST00000307584 — 2 exons

ExonStartEnd
ENSE00001163407100578079100578551
ENSE00001365530100585765100588389

Expression profiles

Bgee: expression breadth ubiquitous, 171 present calls, max score 98.84.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.8166 / max 247.8844, expressed in 122 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter IDTPM avgSamples expressed
977331.3961106
977340.195147
977350.085727
977320.069227
977360.056223
977310.014310

Top tissues by expression

248 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
quadriceps femorisUBERON:000137798.84gold quality
vastus lateralisUBERON:000137998.82gold quality
deltoidUBERON:000147698.67gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451198.65gold quality
tibialis anteriorUBERON:000138597.99gold quality
biceps brachiiUBERON:000150797.86gold quality
skeletal muscle tissueUBERON:000113497.81gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450297.68gold quality
left ventricle myocardiumUBERON:000656696.82gold quality
hindlimb stylopod muscleUBERON:000425295.87gold quality
body of tongueUBERON:001187695.63gold quality
skeletal muscle organUBERON:001489293.88gold quality
gastrocnemiusUBERON:000138893.70gold quality
muscle tissueUBERON:000238593.44gold quality
heart right ventricleUBERON:000208093.05gold quality
myocardiumUBERON:000234992.97gold quality
muscle of legUBERON:000138392.69gold quality
cardiac muscle of right atriumUBERON:000337991.57gold quality
heart left ventricleUBERON:000208488.76gold quality
cardiac ventricleUBERON:000208288.74gold quality
tongueUBERON:000172387.87gold quality
apex of heartUBERON:000209885.79gold quality
cardiac atriumUBERON:000208184.84gold quality
right atrium auricular regionUBERON:000663184.46gold quality
heartUBERON:000094883.87gold quality
cortical plateUBERON:000534378.50gold quality
embryoUBERON:000092276.94gold quality
ganglionic eminenceUBERON:000402376.94gold quality
superior surface of tongueUBERON:000737175.82gold quality
pharyngeal mucosaUBERON:000035573.39gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes4.04

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

63 targeting CAVIN4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-656-3P100.0072.152788
HSA-MIR-60799.9773.625593
HSA-MIR-9-3P99.9670.882068
HSA-MIR-539-5P99.9370.302855
HSA-MIR-627-3P99.9071.423316
HSA-MIR-367199.9073.043897
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-579-3P99.8671.663628
HSA-MIR-221-3P99.8671.561329
HSA-MIR-222-3P99.8671.351337
HSA-MIR-548AR-3P99.8571.263889
HSA-MIR-664B-3P99.8471.653590
HSA-MIR-548BC99.8270.613524
HSA-MIR-548AZ-3P99.8270.563549
HSA-MIR-548E-3P99.8270.593514
HSA-MIR-548F-3P99.8270.593540
HSA-MIR-4659A-3P99.8072.624248
HSA-MIR-4659B-3P99.8072.624248
HSA-MIR-548A-3P99.7670.583524
HSA-MIR-4766-5P99.7569.232662
HSA-MIR-197699.7465.481127
HSA-MIR-1212499.6869.172700
HSA-MIR-450299.6566.991021
HSA-MIR-3177-5P99.6570.381174
HSA-MIR-6516-3P99.6568.571238
HSA-MIR-651-5P99.6468.491104
HSA-MIR-368599.6268.831621
HSA-MIR-510-3P99.5470.062965

Literature-anchored findings (GeneRIF, showing 3)

  • MURC modulates RhoA signaling, and MURC plays an important role in the development of cardiac dysfunction and conduction disturbance with increased vulnerability to atrial arrhythmias. (PMID:18332105)
  • MURC mutations impart loss-of-function effects on MURC functions and probably are causal variants in human dilated cardiomyopathy (PMID:21642240)
  • MURC/cavin-4, especially in combination with Cav-3, may play a consistent role in the differentiation process of rhabdomyosarcoma. (PMID:26086601)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_reriocavin4aENSDARG00000038658
danio_reriocavin4bENSDARG00000056743
mus_musculusCavin4ENSMUSG00000028348
rattus_norvegicusCavin4ENSRNOG00000008027

Paralogs (3): CAVIN2 (ENSG00000168497), CAVIN3 (ENSG00000170955), CAVIN1 (ENSG00000177469)

Protein

Protein identifiers

Caveolae-associated protein 4Q5BKX8 (reviewed: Q5BKX8)

Alternative names: Muscle-related coiled-coil protein, Muscle-restricted coiled-coil protein

All UniProt accessions (1): Q5BKX8

UniProt curated annotations — full annotation on UniProt →

Function. Modulates the morphology of formed caveolae in cardiomyocytes, but is not required for caveolar formation. Facilitates the recruitment of MAPK1/3 to caveolae within cardiomyocytes and regulates alpha-1 adrenergic receptor-induced hypertrophic responses in cardiomyocytes through MAPK1/3 activation. Contributes to proper membrane localization and stabilization of caveolin-3 (CAV3) in cardiomyocytes. Induces RHOA activation and activates NPPA transcription and myofibrillar organization through the Rho/ROCK signaling pathway.

Subunit / interactions. Component of the CAVIN complex composed of CAVIN1, CAVIN2, CAVIN3 and CAVIN4. Interacts with CAVIN1, ADRA1A and ADRA1B. Interacts with CAVIN2; this augments the transactivation of NPPA. Interacts with CAV3. Interacts with MAPK1 and MAPK3.

Subcellular location. Cytoplasm. Myofibril. Sarcomere. Cytosol. Cell membrane. Sarcolemma. Membrane. Caveola.

Domain organisation. The coiled coil domain (residues 44-77) is essential for membrane-targeting in cardiomyocytes.

Similarity. Belongs to the CAVIN family.

RefSeq proteins (1): NP_001018126* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR026752Cavin_famFamily

Pfam: PF15237

UniProt features (13 total): modified residue 5, region of interest 3, coiled-coil region 2, chain 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q5BKX8-F166.210.25

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 (5): 336, 355, 172, 173, 326

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 74 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOCC_I_BAND, GOCC_PLASMA_MEMBRANE_REGION, GOCC_SARCOLEMMA, GOCC_PLASMA_MEMBRANE_RAFT, GSE13762_CTRL_VS_125_VITAMIND_DAY12_DC_DN, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, DELACROIX_RARG_BOUND_MEF, GOCC_CAVEOLA, GOCC_SUPRAMOLECULAR_COMPLEX, GSE13522_WT_VS_IFNG_KO_SKIN_UP, GOCC_SUPRAMOLECULAR_POLYMER, GSE14415_NATURAL_TREG_VS_FOXP3_KO_NATURAL_TREG_UP, CHEMELLO_SOLEUS_VS_EDL_MYOFIBERS_UP

GO Biological Process (4): muscle organ development (GO:0007517), regulation of gene expression (GO:0010468), cell differentiation (GO:0030154), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (9): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), caveola (GO:0005901), sarcoplasm (GO:0016528), Z disc (GO:0030018), sarcolemma (GO:0042383), membrane (GO:0016020), sarcomere (GO:0030017)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular anatomical structure5
cytoplasm2
animal organ development1
muscle structure development1
gene expression1
regulation of macromolecule biosynthetic process1
cellular developmental process1
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
positive regulation of DNA-templated transcription1
binding1
intracellular anatomical structure1
membrane1
cell periphery1
plasma membrane raft1
I band1
plasma membrane1
myofibril1

Protein interactions and networks

STRING

632 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CAVIN4CAVIN2O95810822
CAVIN4CAV1Q03135663
CAVIN4CAVIN1Q6NZI2661
CAVIN4CAV3P56539645
CAVIN4CAVIN3Q969G5579
CAVIN4TRIM54Q9BYV2574
CAVIN4RHOAP06749514
CAVIN4CAV2P51636490
CAVIN4BIN1O00499455
CAVIN4PACSIN2Q9UNF0423
CAVIN4EHD2Q9NZN4378
CAVIN4STAC3Q96MF2377
CAVIN4EHD3Q9NZN3370
CAVIN4MYO18BQ8IUG5361
CAVIN4MYOZ2Q9NPC6354

IntAct

12 interactions, top by confidence:

ABTypeScore
CAVIN4NTAQ1psi-mi:“MI:0915”(physical association)0.560
CAVIN4ZGPATpsi-mi:“MI:0915”(physical association)0.560
BYSLCAVIN4psi-mi:“MI:0915”(physical association)0.560
CAVIN4XRCC6psi-mi:“MI:0915”(physical association)0.400
HMGA1CAVIN4psi-mi:“MI:0915”(physical association)0.400
NTAQ1CAVIN4psi-mi:“MI:0915”(physical association)0.000
ZGPATCAVIN4psi-mi:“MI:0915”(physical association)0.000
BYSLCAVIN4psi-mi:“MI:0915”(physical association)0.000

BioGRID (8): MURC (Two-hybrid), MURC (Two-hybrid), ZGPAT (Two-hybrid), MURC (Proximity Label-MS), MURC (Proximity Label-MS), MURC (Affinity Capture-MS), MURC (Two-hybrid), APP (Reconstituted Complex)

ESM2 similar proteins: A0MZ67, A1L260, A2AMM0, A2VDA9, A4IGC3, A5PJI6, A9C3W3, B1PRL5, B9EKI3, O35711, O35867, O54724, O76878, O94876, O95810, P34609, P55326, P70302, P83093, P84903, P85125, Q0IIE0, Q13586, Q29EP6, Q32PN7, Q58CP9, Q5BKX8, Q5FWS6, Q63918, Q66H98, Q674X7, Q69ZS8, Q69ZZ6, Q6NZI2, Q6P0R8, Q6P402, Q7T019, Q8CJ96, Q8K2Q9, Q8MJK1

Diamond homologs: A1L260, A2AMM0, A2VDA9, A4FV37, A5PJI6, B1PRL5, O54724, O95810, P85125, Q5BKX8, Q63918, Q66H98, Q6NZI2, Q969G5, Q9Z1H9, Q91VJ2

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

125 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance80
Likely benign27
Benign12

Top pathogenic / likely-pathogenic (0)

SpliceAI

172 predictions. Top by Δscore:

VariantEffectΔscore
9:100578550:AGGT:Adonor_loss1.0000
9:100578552:G:GCdonor_loss1.0000
9:100585760:TTCA:Tacceptor_loss1.0000
9:100585763:A:AGacceptor_gain1.0000
9:100585763:A:ATacceptor_loss1.0000
9:100585763:AG:Aacceptor_gain1.0000
9:100585764:G:GAacceptor_gain1.0000
9:100585764:GG:Gacceptor_gain1.0000
9:100585764:GGA:Gacceptor_gain1.0000
9:100585764:GGAGA:Gacceptor_gain1.0000
9:100578543:A:AGdonor_gain0.9900
9:100578552:G:GGdonor_gain0.9900
9:100585761:TCAGG:Tacceptor_gain0.9800
9:100585762:CAGG:Cacceptor_gain0.9800
9:100585763:AGGA:Aacceptor_gain0.9800
9:100585764:GGAG:Gacceptor_gain0.9800
9:100581910:C:Gdonor_gain0.9700
9:100578550:AG:Adonor_gain0.9600
9:100578551:GG:Gdonor_gain0.9600
9:100585763:AGGAG:Aacceptor_gain0.9600
9:100585765:G:Cacceptor_gain0.9600
9:100585762:CAGGA:Cacceptor_gain0.9500
9:100578549:CAG:Cdonor_gain0.9200
9:100581869:A:Tdonor_gain0.8800
9:100578548:CCAGG:Cdonor_gain0.8700
9:100578550:AGG:Adonor_gain0.8700
9:100581864:A:Tdonor_gain0.8700
9:100578549:CAGGT:Cdonor_gain0.8600
9:100578548:CCAG:Cdonor_gain0.8400
9:100578552:G:Tdonor_gain0.8400

AlphaMissense

2422 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
9:100578531:T:CF130L0.991
9:100578533:C:AF130L0.991
9:100578533:C:GF130L0.991
9:100578264:G:CA41P0.989
9:100578532:T:CF130S0.984
9:100578253:T:CL37P0.982
9:100585960:T:CF202L0.980
9:100585962:T:AF202L0.980
9:100585962:T:GF202L0.980
9:100585961:T:CF202S0.979
9:100578535:G:CR131P0.978
9:100578546:T:CF135L0.978
9:100578548:C:AF135L0.978
9:100578548:C:GF135L0.978
9:100578460:G:CR106P0.977
9:100578295:A:CQ51P0.974
9:100578253:T:AL37Q0.973
9:100578358:T:CL72P0.973
9:100578538:T:AV132E0.972
9:100578544:T:AI134K0.970
9:100578241:T:AI33N0.969
9:100586049:A:CR231S0.965
9:100586049:A:TR231S0.965
9:100585949:T:AI198N0.963
9:100585949:T:GI198S0.960
9:100578367:T:CL75P0.957
9:100578262:T:AV40E0.953
9:100586033:T:AV226E0.952
9:100578532:T:GF130C0.951
9:100585953:G:CK199N0.951

dbSNP variants (sampled 300 via entrez): RS1000531874 (9:100585454 G>T), RS1000954624 (9:100580437 C>G), RS1001179979 (9:100577833 A>G), RS1001206089 (9:100578088 C>T), RS1001719649 (9:100578571 C>A), RS1002332015 (9:100584804 C>T), RS1002566644 (9:100581812 C>T), RS1002720009 (9:100587738 C>A), RS1002751004 (9:100587978 A>C), RS1002949329 (9:100586909 A>C), RS1003365668 (9:100576804 T>C), RS1003975193 (9:100583211 C>T), RS1003988736 (9:100582592 C>T), RS1004193452 (9:100577043 G>T), RS1004890049 (9:100585552 A>C)

Disease associations

OMIM: gene MIM:617714 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): dilated cardiomyopathy (MONDO:0005021)

Orphanet (1): Dilated cardiomyopathy (Orphanet:217604)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPOTerm
HP:0001644Dilated cardiomyopathy

GWAS associations

3 associations (top):

StudyTraitp-value
GCST002359_7Plasma amyloid beta peptide concentrations (ABx-42)7.000000e-06
GCST004735_8Epstein-Barr virus copy number in lymphoblastoid cell lines9.000000e-06
GCST012228_387Waist-hip index4.000000e-08

EFO canonical traits (2, from GWAS)

EFO IDTrait name
EFO:0005660plasma beta-amyloid 1-42 measurement
EFO:0007788BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

DescriptorNameTree numbers
D002311Cardiomyopathy, DilatedC14.280.195.160; C14.280.238.070; C16.320.488.750

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.

ChemicalActions (top 5)PubMed papers
Doxorubicindecreases expression3
Daunorubicindecreases expression2
Mitoxantronedecreases expression2
bisphenol Adecreases expression1
tris(2-butoxyethyl) phosphateaffects expression1
arseniteaffects binding, decreases reaction1
potassium chromate(VI)affects cotreatment, increases expression1
epigallocatechin gallateaffects cotreatment, increases expression1
2,7-dihydroxynaphthalenedecreases expression1
abrineincreases expression1
incobotulinumtoxinAdecreases expression1
Sunitinibdecreases expression1
Air Pollutantsdecreases expression, increases abundance1
Dichlorodiphenyl Dichloroethylenedecreases expression1
Tretinoindecreases expression1
Triclosandecreases expression1
Okadaic Acidincreases expression1
Particulate Matterdecreases expression, increases abundance1

Clinical trials (associated diseases)

158 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00374465PHASE4UNKNOWNTherapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903PHASE4COMPLETEDStudy of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140PHASE4COMPLETEDA Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149PHASE4COMPLETEDSupramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581PHASE4COMPLETEDCoenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022PHASE4RECRUITINGThe Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00333827PHASE3COMPLETEDCell Therapy In Dilated Cardiomyopathy
NCT00505154PHASE3COMPLETEDEffect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703PHASE3COMPLETEDPUFAs and Left Ventricular Function in Heart Failure
NCT01583114PHASE3TERMINATEDPREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081PHASE3UNKNOWNResveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181PHASE3UNKNOWNContinues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514PHASE3TERMINATEDA Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323PHASE3COMPLETEDMicophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766PHASE3COMPLETEDEffect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257PHASE3RECRUITINGBromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00629018PHASE2COMPLETEDSafety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096PHASE2COMPLETEDIntracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518PHASE2COMPLETEDUse of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
NCT00847964PHASE2COMPLETEDSafety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery
NCT01020968PHASE2COMPLETEDUse of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy
NCT01302171PHASE2COMPLETEDBone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
NCT01350310PHASE2COMPLETEDSafety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy
NCT02133911PHASE2COMPLETEDA Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy
NCT03071653PHASE2SUSPENDEDLeft Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study
NCT03572660PHASE2ACTIVE_NOT_RECRUITINGUse of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM
NCT03775070PHASE2COMPLETEDSimvastatin Therapy in Patients With Dilated Cardiomyopathy.
NCT04405804PHASE2UNKNOWNEarly Administration of Ivabradine in Children With Heart Failure
NCT05410873PHASE2COMPLETEDExamining the Effects of Mitochondrial Oxidative Stress in DCM
NCT06632834PHASE2RECRUITINGOutcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation
NCT00585546PHASE1TERMINATEDHarefield Recovery Protocol Study for Patients With Refractory Chronic Heart Failure
NCT02293603PHASE1UNKNOWNDilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC)
NCT03062956PHASE1COMPLETEDA Single Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of MYK-491
NCT03129568PHASE1COMPLETEDTranscoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy
NCT04982081PHASE1UNKNOWNTreating Congestive HF With hiPSC-CMs Through Endocardial Injection
NCT06381466PHASE1TERMINATEDA Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants.
NCT06464588PHASE1RECRUITINGA Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM)
NCT06902896PHASE1COMPLETEDSafety and Efficacy of FAP iCDC in End-stage Dilated Cardiomyopathy
NCT07137338PHASE1RECRUITINGA Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy
NCT07241104PHASE1RECRUITINGA Study of AZD4063 in PLN R14del Dilated Cardiomyopathy
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Epstein-Barr virus infection