C2CD4A

Summary

C2CD4A (C2 calcium dependent domain containing 4A, HGNC:33627) is a protein-coding gene on chromosome 15q22.2, encoding C2 calcium-dependent domain-containing protein 4A (Q8NCU7). May be involved in inflammatory process.

Involved in positive regulation of acute inflammatory response; regulation of cell adhesion; and regulation of vascular permeability involved in acute inflammatory response. Located in nucleolus and nucleoplasm.

Source: NCBI Gene 145741 — RefSeq curated summary.

At a glance

• GWAS associations: 17
• Clinical variants (ClinVar): 104 total — 1 pathogenic
• Phenotypes (HPO): 3
• MANE Select transcript: NM_207322

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33627
Approved symbol	C2CD4A
Name	C2 calcium dependent domain containing 4A
Location	15q22.2
Locus type	gene with protein product
Status	Approved
Aliases	NLF1
Ensembl gene	ENSG00000198535
Ensembl biotype	protein_coding
OMIM	610343
Entrez	145741

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000355522

RefSeq mRNA: 1 — MANE Select: NM_207322 NM_207322

CCDS: CCDS32258

Canonical transcript exons

ENST00000355522 — 2 exons

Exon	Start	End
ENSE00001223962	62066977	62067088
ENSE00001432996	62067585	62070917

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 94.04.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8528 / max 88.2700, expressed in 242 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147029	0.8528	242

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	94.04	gold quality
epithelial cell of pancreas	CL:0000083	75.57	silver quality
cartilage tissue	UBERON:0002418	75.56	gold quality
pituitary gland	UBERON:0000007	73.74	gold quality
palpebral conjunctiva	UBERON:0001812	73.38	gold quality
pancreas	UBERON:0001264	73.31	gold quality
adenohypophysis	UBERON:0002196	71.96	gold quality
endometrium	UBERON:0001295	70.62	gold quality
cardia of stomach	UBERON:0001162	67.13	gold quality
body of pancreas	UBERON:0001150	62.50	gold quality
trachea	UBERON:0003126	62.12	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	62.12	gold quality
mucosa of paranasal sinus	UBERON:0005030	60.56	silver quality
epithelium of nasopharynx	UBERON:0001951	59.79	gold quality
gingival epithelium	UBERON:0001949	59.52	gold quality
tibialis anterior	UBERON:0001385	58.03	silver quality
ileal mucosa	UBERON:0000331	57.77	silver quality
pancreatic ductal cell	CL:0002079	57.26	silver quality
gingiva	UBERON:0001828	57.17	gold quality
vermiform appendix	UBERON:0001154	55.71	gold quality
nasal cavity mucosa	UBERON:0001826	55.05	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
uterus	UBERON:0000995	54.11	gold quality
duodenum	UBERON:0002114	54.03	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
tonsil	UBERON:0002372	53.85	gold quality
body of stomach	UBERON:0001161	53.53	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
adult mammalian kidney	UBERON:0000082	53.19	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-29	yes	593.17
E-GEOD-83139	yes	109.38
E-ANND-3	yes	5.22

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

92 targeting C2CD4A, 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-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
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-568	99.98	69.86	2084
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-627-3P	99.90	71.42	3316

Literature-anchored findings (GeneRIF, showing 8)

• NLF1 may play a role in regulating genes which control cellular architecture. (PMID:15527968)
• Single nucleotide polymorphism in C2CD4A is associated with type 2 diabetes. (PMID:20818381)
• An endoplasmic reticulum protein, NLF-1, delivers a sodium leak channel critical for rhythmic locomotion. (PMID:23522043)
• The present data thus provide evidence for a limited role for changes in VPS13C expression in conferring altered type 2 diabetes risk at this locus, particularly in females, and suggest that C2CD4A, but not C2CD4B, may also be involved. (PMID:27329800)
• C2CD4A expression is significantly upregulated in human masticatory mucosa during wound healing (PMID:28005267)
• rs7163757 contributes to genetic risk of islet dysfunction and type 2 diabetes by increasing NFAT-mediated islet enhancer activity and modulating C2CD4B, and possibly C2CD4A, expression in (patho)physiologic states. (PMID:29625024)
• C2CD4A is a transcriptional coregulator of the glycolytic pathway whose dysfunction accounts for the diabetes susceptibility associated with the chromosome 15 GWAS locus. (PMID:31527256)
• C2CD4A/B variants in the predisposition of lung cancer in the Chinese Han population. (PMID:35212842)

Cross-species orthologs

0 orthologs

Paralogs (31): SYT7 (ENSG00000011347), SYT13 (ENSG00000019505), SYT1 (ENSG00000067715), RPH3A (ENSG00000089169), SYTL4 (ENSG00000102362), SYT17 (ENSG00000103528), SYT10 (ENSG00000110975), SYT5 (ENSG00000129990), SYT11 (ENSG00000132718), SYT4 (ENSG00000132872), SYT6 (ENSG00000134207), SYTL2 (ENSG00000137501), SYT16 (ENSG00000139973), SYTL1 (ENSG00000142765), SYT14 (ENSG00000143469), SYT2 (ENSG00000143858), SYTL5 (ENSG00000147041), SYT8 (ENSG00000149043), DOC2A (ENSG00000149927), SYTL3 (ENSG00000164674), TC2N (ENSG00000165929), SYT9 (ENSG00000170743), SYT12 (ENSG00000173227), RPH3AL (ENSG00000181031), C2CD4C (ENSG00000183186), SYT15 (ENSG00000204176), C2CD4B (ENSG00000205502), SYT3 (ENSG00000213023), C2CD4D (ENSG00000225556), DOC2B (ENSG00000272636), SYT15B (ENSG00000277758)

Protein

Protein identifiers

C2 calcium-dependent domain-containing protein 4A — Q8NCU7 (reviewed: Q8NCU7)

Alternative names: Nuclear-localized factor 1, Protein FAM148A

All UniProt accessions (1): Q8NCU7

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in inflammatory process. May regulate cell architecture and adhesion.

Subcellular location. Nucleus.

Tissue specificity. Specifically expressed in endothelial cells.

Induction. Up-regulated by pro-inflammatory cytokines.

Similarity. Belongs to the C2CD4 family.

RefSeq proteins (1): NP_997205* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000008	C2_dom	Domain
IPR035892	C2_domain_sf	Homologous_superfamily
IPR039208	C2_Ca-dependent_4	Family

UniProt features (7 total): region of interest 2, compositionally biased region 2, chain 1, domain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCU7-F1	59.36	0.01

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 66 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_INFLAMMATORY_RESPONSE, GOZGIT_ESR1_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_ACUTE_INFLAMMATORY_RESPONSE, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, MYCMAX_01, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, CORRE_MULTIPLE_MYELOMA_UP, GOBP_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, HOOI_ST7_TARGETS_DN, GOBP_REGULATION_OF_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_DEFENSE_RESPONSE, CERVERA_SDHB_TARGETS_1_UP

GO Biological Process (3): regulation of vascular permeability involved in acute inflammatory response (GO:0002528), positive regulation of acute inflammatory response (GO:0002675), regulation of cell adhesion (GO:0030155)

GO Molecular Function (0):

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
acute inflammatory response	2
nuclear lumen	2
regulation of vascular permeability	1
regulation of acute inflammatory response	1
positive regulation of inflammatory response	1
cell adhesion	1
regulation of cellular process	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

454 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C2CD4A	RND1	Q92730	776
C2CD4A	NALCN	Q8IZF0	715
C2CD4A	UNC79	Q9P2D8	702
C2CD4A	UBE2E2	Q96LR5	691
C2CD4A	UNC80	Q8N2C7	678
C2CD4A	CDKAL1	Q5VV42	622
C2CD4A	CDC123	O75794	621
C2CD4A	KCNQ1	P51787	579
C2CD4A	SLC30A8	Q8IWU4	578
C2CD4A	ARAP1	Q96P48	572
C2CD4A	HHEX	Q03014	570
C2CD4A	ZFAND3	Q9H8U3	545
C2CD4A	VPS13C	Q709C8	543
C2CD4A	TCF7L2	Q9NQB0	540
C2CD4A	MTNR1B	P49286	524

IntAct

3 interactions, top by confidence:

A	B	Type	Score
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
C2CD4A	PRKCI	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): TUBA4A (Affinity Capture-MS), TEX10 (Affinity Capture-MS), KIAA0232 (Affinity Capture-MS), PRKCI (Affinity Capture-MS), TUBB8 (Affinity Capture-MS), SPHK2 (Affinity Capture-MS), SENP3 (Affinity Capture-MS), HERC1 (Affinity Capture-MS), ZNF496 (Affinity Capture-MS), CELSR2 (Affinity Capture-MS), FAT3 (Affinity Capture-MS), HBB (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A286YF58, A0A2R8YCJ5, A0A7I2V3R4, A2A699, A2VDX9, A6NCS6, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NLJ0, A8MVW0, B2RU40, B7Z1M9, B8ZZ34, C9JH25, C9JVW0, D4A9R4, J3QNX5, M0QZC1, P03971, P0CG09, P0DPE3, Q0PHV7, Q0VD38, Q14761, Q29RK8, Q29RM6, Q2KJ18, Q2M3G4, Q2M3V2, Q5T442, Q64697, Q69YZ2, Q6F5E0, Q6NY19, Q6UXK2, Q80XF7

Diamond homologs: A6NLJ0, B7Z1M9, P0CG09, Q2KJ18, Q5HZI2, Q8NCU7, Q8TF44, Q17RD7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	94
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4075864	GRCh37/hg19 15q22.2(chr15:62194207-62387962)x1	Pathogenic

SpliceAI

136 predictions. Top by Δscore:

Variant	Effect	Δscore
15:62067085:CCAGG:C	donor_loss	0.9700
15:62067086:CAGGT:C	donor_loss	0.9700
15:62067087:AG:A	donor_loss	0.9700
15:62067089:G:A	donor_loss	0.9700
15:62067090:T:A	donor_loss	0.9700
15:62067098:G:GT	donor_gain	0.9600
15:62067060:GC:G	donor_gain	0.9400
15:62067059:TGCA:T	donor_gain	0.9300
15:62067081:G:GT	donor_gain	0.9100
15:62067579:CTGCA:C	acceptor_loss	0.9100
15:62067580:TGCA:T	acceptor_loss	0.9100
15:62067581:GCA:G	acceptor_loss	0.9100
15:62067582:CA:C	acceptor_loss	0.9100
15:62067583:A:AC	acceptor_loss	0.9100
15:62067584:GGTA:G	acceptor_gain	0.9000
15:62067573:T:A	acceptor_loss	0.8900
15:62067185:G:GT	donor_gain	0.8800
15:62067583:A:AG	acceptor_gain	0.8700
15:62067584:G:GG	acceptor_gain	0.8700
15:62067039:C:A	donor_gain	0.8500
15:62067189:G:GT	donor_gain	0.8200
15:62067021:C:G	donor_gain	0.8100
15:62067578:A:AG	acceptor_gain	0.7900
15:62067162:G:T	donor_gain	0.7800
15:62067091:A:T	donor_loss	0.7700
15:62067584:GGT:G	acceptor_gain	0.7700
15:62067578:ACT:A	acceptor_gain	0.7200
15:62067580:T:A	acceptor_gain	0.6900
15:62067500:A:T	donor_gain	0.6400
15:62067579:C:G	acceptor_gain	0.6400

AlphaMissense

2275 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:62067758:T:C	F49L	0.990
15:62067760:C:A	F49L	0.990
15:62067760:C:G	F49L	0.990
15:62067926:T:C	F105L	0.990
15:62067928:C:A	F105L	0.990
15:62067928:C:G	F105L	0.990
15:62067750:T:C	I46T	0.984
15:62067944:A:C	S111R	0.978
15:62067946:C:A	S111R	0.978
15:62067946:C:G	S111R	0.978
15:62067959:C:A	R116S	0.973
15:62067927:T:C	F105S	0.972
15:62067964:G:C	K117N	0.967
15:62067964:G:T	K117N	0.967
15:62067765:T:C	I51T	0.956
15:62068629:T:A	V339D	0.954
15:62068401:A:G	Y263C	0.947
15:62068400:T:C	Y263H	0.943
15:62068401:A:C	Y263S	0.943
15:62067864:A:G	D84G	0.942
15:62067759:T:C	F49S	0.939
15:62068400:T:G	Y263D	0.938
15:62067750:T:G	I46S	0.937
15:62067966:A:T	E118V	0.936
15:62067915:C:T	T101I	0.929
15:62067965:G:A	E118K	0.929
15:62068422:T:A	L270H	0.929
15:62067927:T:G	F105C	0.924
15:62068395:C:A	A261D	0.924
15:62068635:T:A	V341D	0.922

dbSNP variants (sampled 300 via entrez): RS1000190073 (15:62069466 C>G,T), RS1000619569 (15:62070918 C>G), RS1002104079 (15:62070041 G>T), RS1003698814 (15:62067123 C>A,T), RS1003766169 (15:62065113 G>T), RS1004299475 (15:62068054 C>A,G), RS1004310860 (15:62068231 C>A,G,T), RS1004534367 (15:62065153 G>T), RS1005314894 (15:62067272 C>G), RS1006313058 (15:62065625 C>T), RS1006331722 (15:62070559 A>G,T), RS1006384120 (15:62070816 A>G), RS1006467979 (15:62071239 C>G,T), RS1006663746 (15:62069126 G>T), RS1006715886 (15:62069368 A>G)

Disease associations

OMIM: gene MIM:610343 | disease phenotypes:

GenCC curated gene-disease

Mondo (3): hypertrophic cardiomyopathy (MONDO:0005045), esophageal atresia (MONDO:0001044), pyloric stenosis (MONDO:0001561)

Orphanet (1): Rare hypertrophic cardiomyopathy (Orphanet:217569)

HPO phenotypes

3 total (3 of 3 shown, HPO-id order):

HPO	Term
HP:0001639	Hypertrophic cardiomyopathy
HP:0002032	Esophageal atresia
HP:0002021	Pyloric stenosis

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST000787_1	Type 2 diabetes	9.000000e-14
GCST000817_134	Height	6.000000e-09
GCST001173_2	Type 2 diabetes	8.000000e-06
GCST001212_4	Proinsulin levels	4.000000e-20
GCST002128_10	Type 2 diabetes	1.000000e-06
GCST002352_53	Type 2 diabetes	4.000000e-06
GCST004894_122	Type 2 diabetes	5.000000e-09
GCST005047_50	Type 2 diabetes	2.000000e-06
GCST006867_126	Type 2 diabetes	2.000000e-08
GCST007847_24	Type 2 diabetes	2.000000e-17
GCST007847_67	Type 2 diabetes	8.000000e-07
GCST008109_4	Fasting blood proinsulin levels	7.000000e-18
GCST008839_440	Height	2.000000e-13
GCST009379_204	Type 2 diabetes	3.000000e-13
GCST009863_23	Insulin-related traits (multivariate analysis)	2.000000e-23
GCST010118_105	Type 2 diabetes	7.000000e-33
GCST010243_252	Apolipoprotein B levels	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004467	insulin measurement
EFO:0004615	apolipoprotein B measurement

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D004933	Esophageal Atresia	C06.198.330; C06.405.117.260; C16.131.314.330
D017219	Gastric Outlet Obstruction	C06.405.748.340
D011707	Pyloric Stenosis	C06.405.748.340.690

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, decreases expression, increases expression	2
Cyclosporine	increases expression	2
aminomethylphosphonic acid (AMPA)	decreases expression	1
methyleugenol	increases expression	1
bisphenol A	increases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases reaction, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
abrine	increases expression	1
bisphenol S	increases methylation	1
Zoledronic Acid	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Calcitriol	decreases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Lipopolysaccharides	increases expression, decreases reaction	1
Phthalic Acids	decreases methylation	1
Progesterone	affects cotreatment, decreases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
2,4-Dichlorophenoxyacetic Acid	decreases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
NCT02948998	PHASE4	UNKNOWN	Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy
NCT03249272	PHASE4	TERMINATED	Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve
NCT04133532	PHASE4	COMPLETED	Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy
NCT06401343	PHASE4	RECRUITING	Use of SGLT2i in noHCM With HFpEF
NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT00556283	PHASE4	COMPLETED	RCT: STARR vs Biofeedback
NCT00317967	PHASE3	COMPLETED	Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart
NCT00698074	PHASE3	UNKNOWN	Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy
NCT00821353	PHASE3	COMPLETED	Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy
NCT02431221	PHASE3	WITHDRAWN	Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure
NCT03470545	PHASE3	COMPLETED	Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT05174416	PHASE3	COMPLETED	A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM
NCT05182658	PHASE3	ACTIVE_NOT_RECRUITING	Empagliflozin in Hypertrophic Cardiomyopathy
NCT05186818	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM
NCT05767346	PHASE3	COMPLETED	Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM
NCT06116968	PHASE3	COMPLETED	An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM
NCT06873828	PHASE3	NOT_YET_RECRUITING	Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring
NCT07021976	PHASE3	RECRUITING	A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy
NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
NCT07202897	PHASE3	NOT_YET_RECRUITING	LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain.
NCT00226044	PHASE3	COMPLETED	Rectal and Oral Omeprazole Treatment of Reflux Disease in Infants.
NCT00001631	PHASE2	COMPLETED	Study of Blood Flow in Heart Muscle
NCT00001894	PHASE2	COMPLETED	A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy
NCT00001960	PHASE2	COMPLETED	Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle
NCT00011076	PHASE2	COMPLETED	Pirfenidone to Treat Hypertrophic Cardiomyopathy
NCT00035386	PHASE2	COMPLETED	Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study
NCT00430833	PHASE2	UNKNOWN	CHANCE - Candesartan in Hypertrophic Cardiomyopathy
NCT00500552	PHASE2	COMPLETED	Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy
NCT01150461	PHASE2	COMPLETED	Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy
NCT01230918	PHASE2	TERMINATED	Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis
NCT01447654	PHASE2	COMPLETED	Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy
NCT01696370	PHASE2	UNKNOWN	Trimetazidine Therapy in Hypertrophic Cardiomyopathy
NCT01912534	PHASE2	COMPLETED	Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM
NCT02590809	PHASE2	COMPLETED	Hypertrophic Cardiomyopathy Symptom Release by BX1514M
NCT03496168	PHASE2	COMPLETED	Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in PIONEER
NCT03532802	PHASE2	COMPLETED	The Effect of Metoprolol in Patients With Hypertrophic Obstructive Cardiomyopathy.
NCT03832660	PHASE2	COMPLETED	Sacubitril/Valsartan vs Lifestyle in Hypertrophic Cardiomyopathy