TGFB3

Summary

TGFB3 (transforming growth factor beta 3, HGNC:11769) is a protein-coding gene on chromosome 14q24.3, encoding Transforming growth factor beta-3 proprotein (P10600). Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively.

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1.

Source: NCBI Gene 7043 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Rienhoff syndrome (Definitive, GenCC) — +4 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 729 total — 45 pathogenic, 31 likely-pathogenic
• Phenotypes (HPO): 122
• Druggable target: yes
• MANE Select transcript: NM_003239

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11769
Approved symbol	TGFB3
Name	transforming growth factor beta 3
Location	14q24.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000119699
Ensembl biotype	protein_coding
OMIM	190230
Entrez	7043

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 15 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000238682, ENST00000554980, ENST00000555193, ENST00000556285, ENST00000556507, ENST00000556674, ENST00000557493, ENST00000858792, ENST00000858793, ENST00000858794, ENST00000858795, ENST00000858796, ENST00000858797, ENST00000911430, ENST00000964914, ENST00000964915, ENST00000964916, ENST00000964917

RefSeq mRNA: 3 — MANE Select: NM_003239 NM_001329938, NM_001329939, NM_003239

CCDS: CCDS86415, CCDS9846

Canonical transcript exons

ENST00000238682 — 7 exons

Exon	Start	End
ENSE00000808429	75971126	75971255
ENSE00000808430	75971555	75971718
ENSE00002526160	75958097	75959345
ENSE00002536640	75980542	75981995
ENSE00003612657	75963316	75963487
ENSE00003637614	75965588	75965695
ENSE00003641083	75960923	75961076

Expression profiles

Bgee: expression breadth ubiquitous, 244 present calls, max score 96.03.

FANTOM5 (CAGE): breadth broad, TPM avg 3.4427 / max 131.8155, expressed in 888 samples.

FANTOM5 promoters (13 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144157	0.9178	297
144159	0.7438	328
144156	0.4644	225
144151	0.2156	88
144155	0.2102	107
144152	0.2008	79
144154	0.2006	82
144158	0.1621	65
144153	0.1104	46
144149	0.0841	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
saphenous vein	UBERON:0007318	96.03	gold quality
endocervix	UBERON:0000458	95.69	gold quality
gall bladder	UBERON:0002110	94.28	gold quality
prostate gland	UBERON:0002367	93.49	gold quality
cartilage tissue	UBERON:0002418	92.88	gold quality
smooth muscle tissue	UBERON:0001135	92.62	gold quality
body of pancreas	UBERON:0001150	92.56	gold quality
periodontal ligament	UBERON:0008266	92.24	gold quality
body of uterus	UBERON:0009853	91.96	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	91.69	gold quality
ascending aorta	UBERON:0001496	91.56	gold quality
thoracic aorta	UBERON:0001515	91.31	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	91.09	gold quality
vena cava	UBERON:0004087	91.02	gold quality
right atrium auricular region	UBERON:0006631	90.98	gold quality
omental fat pad	UBERON:0010414	90.76	gold quality
gastrocnemius	UBERON:0001388	90.75	gold quality
peritoneum	UBERON:0002358	90.73	gold quality
gluteal muscle	UBERON:0002000	90.70	gold quality
aorta	UBERON:0000947	90.59	gold quality
left coronary artery	UBERON:0001626	90.55	gold quality
spinal cord	UBERON:0002240	90.52	gold quality
cardiac atrium	UBERON:0002081	90.30	gold quality
coronary artery	UBERON:0001621	90.16	gold quality
popliteal artery	UBERON:0002250	90.13	gold quality
tibial artery	UBERON:0007610	90.11	gold quality
muscle of leg	UBERON:0001383	89.76	gold quality
pancreas	UBERON:0001264	89.59	gold quality
amygdala	UBERON:0001876	89.43	gold quality
adipose tissue of abdominal region	UBERON:0007808	89.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.60

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
SERPINE1	Activation

Upstream regulators (CollecTRI, top): ARX, ATF2, CREB1, ESR1, ESR2, FOSL2, FOXE1, GLI3, HIF1A, JUN, MSX2, MYC, PAX1, PRRX1, SMAD3, SNAI1, SNAI2, TFAP2A

miRNA regulators (miRDB)

81 targeting TGFB3, 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-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085

Literature-anchored findings (GeneRIF, showing 40)

• PAI-1 gene activation by TNF-alpha apparently is yet to be defined for the location of the response element and/or the signaling pathway, while TGF-beta is the most important cytokine for PAI-1 transcriptional activation through its 5’ proximal promoter. (PMID:11776328)
• crystal structure of the human TbetaR2 ectodomain–TGF-beta3 complex (PMID:11850637)
• downregulation of TGF-beta 3 expression found in pre-eclamptic umbilical cord may contribute to the abnormal structure and mechanical properties seen in these pathological umbilical cords (PMID:11969342)
• TGF-beta1, TGF-beta2 and TGF-beta3 isoforms are produced by chondrosarcomas and could have a potential role as autocrine growth stimulators in these neoplasms (PMID:12021923)
• present in diabetic foot ulcer (PMID:12060054)
• TGFbeta3 may have a role in mediating progesterone- and progestogen-induced endometrial differentiation (PMID:12168782)
• TGFbeta3 regulates GM-CSF induced human myelopoiesis (PMID:12171249)
• determination of the importance of conformational entropy in the interaction of TGF-beta3 with the receptors (PMID:12221089)
• children with active celiac disease have an altered expression of TGF-beta1 and TGF-beta3 in the small intestine (PMID:12410804)
• The role of TGF-beta1 and -beta3 in generating a high TIFP was investigated in xenografted experimental anaplastic thyroid carcinoma (ATC) derived from the human ATC cell line (PMID:12432546)
• investigated TGF-beta 1, -beta 2, and -beta 3 latency-associated peptides (LAP)expression in sound and carious human teeth (PMID:12489185)
• TGF-beta3 expression in peritoneal fibroblasts was not affected by hypoxia or TGF-beta1 stimulation (PMID:12607775)
• mutations make a contribution to clefts in South American populations (PMID:12651933)
• positively associated with cleft lip and/or palate with hypodontia outside the cleft region (PMID:12733956)
• Glucocorticoids significantly inhibited TGF-beta1 and TGF-beta2 production and reduced expression of the up-regulated TGF-beta1 and TGF-beta2 mRNA induced by exogenous TGF-beta1, -beta2, or -beta3 (PMID:12772773)
• All three TGF-beta isoforms have fibrogenic effects on renal cells. TGF-beta2 and TGF-beta3 effects may be partially mediated by TGF-beta1. Blockade of all isoforms together may yield best therapeutic effect in reducing renal fibrosis. (PMID:12911534)
• NMR analysis of the extracellular domain of the human TGFbeta type II receptor in complex with monomeric TGFbeta3 (PMID:15017149)
• regulation of TGF-beta3 promoter activity by HIF-1 represents a mechanism for trophoblast differentiation during hypoxia. (PMID:15155569)
• We identified TGFbeta3 as the disease gene involved in ARVD1. (PMID:15639475)
• Human TGF-beta2 but not human TGF-beta1, or -beta3 promotes cardiac myocyte differentiation from mouse ES cells. (PMID:15896309)
• No association was found between TGF-beta3 gene polymorphisms essential hypertension in Chinese. (PMID:15924806)
• TGF-beta 3 may promote endometrial tissue repair through the inhibition of the proliferation, expansion, and migration of endometrial stromal cells, and through stimulation of contraction of the collagen gel matrix by these cells. (PMID:16210002)
• Depletion of TGFbeta3 from serum converts serum to a plasmalike reagent. (PMID:16549496)
• Hunchback sequence binding protein may function as a TGF-beta3 gene transcriptional regulator and may be expressed in a cell type-specific manner. (PMID:16781676)
• CD24 regulates E-cadherin and TGF-beta3 expression in cultured oral epithelial cells (PMID:16930538)
• Altered crosstalk between RA, GABAergic, and TGF-beta signaling systems could be involved in human cleft palate fibroblast phenotype. (PMID:17225872)
• BMP-2, TGF-beta2, and TGF-beta3 are involved in bone formation in heterotopic ossifications. (PMID:17401695)
• TGF-beta3 may play a role as regulator of variety of cellular events during HELLP syndrome. High local expression may be responsible for remodeling of the placental structure resulting in dysfunction of maternal-fetal circulation. (PMID:17671384)
• collagen I induces EMT in lung cancer cells by activating autocrine TGF-beta3 signaling. Epidermal growth factor also seems to initiate EMT via a TGF-dependent mechanism. (PMID:17673689)
• TGF-beta2 and -beta3 are differentially expressed during the menstrual cycle and regulated by progesterone in epithelial vs stromal cells. (PMID:18039789)
• There is a significantly elevated concentration of TGF-beta3 in PE eyes (PMID:18049952)
• TGF-beta 3 is closely related to mineral maturation matrix in human developing teeth (PMID:18078367)
• TGF-beta 3 was detected from the canalisation stage of the salivary gland, being weakly expressed on ductal cells, and it was the only factor detected on myoepithelial cells. (PMID:18080134)
• oxygen regulates the placental expression of endoglin via TGF-beta 3 (PMID:18156205)
• TGF-beta complexes assemble cooperatively through recruitment of the low-affinity (type I) receptor by the ligand-bound high-affinity (type II) pair. (PMID:18243111)
• Data support the involvement of TGFB3 in the development of oral clefts in patients among 204 triads of central European origin. (PMID:18480962)
• study found different expression of the TGF-beta1, -2 and -3 isoforms in the human corneal epithelium; such differential expression of TGF-betas suggests that each of them may play a specific role in corneal tissue (PMID:18498721)
• the TGF-beta1-2-3/Smad3 pathway has a role in mediating ovarian oncogenesis by enhancing metastatic potential (PMID:18505915)
• Snail and Slug promote formation of beta-catenin-T-cell factor (TCF)-4 transcription complexes that bind to the promoter of the TGF-beta3 gene to increase its transcription. (PMID:18799618)
• BMP-2 enhances TGF-beta3-mediated chondrogenesis of mesenchymal stromal cells. (PMID:18950289)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tgfb3	ENSDARG00000019367
mus_musculus	Tgfb3	ENSMUSG00000021253
rattus_norvegicus	Tgfb3	ENSRNOG00000009867

Paralogs (31): TGFB2 (ENSG00000092969), BMP7 (ENSG00000101144), TGFB1 (ENSG00000105329), BMP5 (ENSG00000112175), BMP8B (ENSG00000116985), INHBA (ENSG00000122641), INHA (ENSG00000123999), BMP4 (ENSG00000125378), BMP2 (ENSG00000125845), GDF5 (ENSG00000125965), GDF1 (ENSG00000130283), BMP15 (ENSG00000130385), GDF15 (ENSG00000130513), GDF11 (ENSG00000135414), MSTN (ENSG00000138379), INHBE (ENSG00000139269), LEFTY2 (ENSG00000143768), GDF7 (ENSG00000143869), BMP3 (ENSG00000152785), BMP6 (ENSG00000153162), GDF6 (ENSG00000156466), NODAL (ENSG00000156574), INHBB (ENSG00000163083), BMP10 (ENSG00000163217), GDF9 (ENSG00000164404), INHBC (ENSG00000175189), BMP8A (ENSG00000183682), GDF3 (ENSG00000184344), LEFTY1 (ENSG00000243709), GDF2 (ENSG00000263761), GDF10 (ENSG00000266524)

Protein

Protein identifiers

Transforming growth factor beta-3 proprotein — P10600 (reviewed: P10600)

All UniProt accessions (3): P10600, A0A6Q8PGK5, A5YM40

UniProt curated annotations — full annotation on UniProt →

Function. Transforming growth factor beta-3 proprotein: Precursor of the Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains, which constitute the regulatory and active subunit of TGF-beta-3, respectively. Required to maintain the Transforming growth factor beta-3 (TGF-beta-3) chain in a latent state during storage in extracellular matrix. Associates non-covalently with TGF-beta-3 and regulates its activation via interaction with ‘milieu molecules’, such as LTBP1 and LRRC32/GARP, that control activation of TGF-beta-3. Interaction with integrins results in distortion of the Latency-associated peptide chain and subsequent release of the active TGF-beta-3. Transforming growth factor beta-3: Multifunctional protein that regulates embryogenesis and cell differentiation and is required in various processes such as secondary palate development. Activation into mature form follows different steps: following cleavage of the proprotein in the Golgi apparatus, Latency-associated peptide (LAP) and Transforming growth factor beta-3 (TGF-beta-3) chains remain non-covalently linked rendering TGF-beta-3 inactive during storage in extracellular matrix. At the same time, LAP chain interacts with ‘milieu molecules’, such as LTBP1 and LRRC32/GARP that control activation of TGF-beta-3 and maintain it in a latent state during storage in extracellular milieus. TGF-beta-3 is released from LAP by integrins: integrin-binding results in distortion of the LAP chain and subsequent release of the active TGF-beta-3. Once activated following release of LAP, TGF-beta-3 acts by binding to TGF-beta receptors (TGFBR1 and TGFBR2), which transduce signal.

Subunit / interactions. Interacts with ASPN. Latency-associated peptide: Homodimer; disulfide-linked. Latency-associated peptide: Interacts with Transforming growth factor beta-3 (TGF-beta-3) chain; interaction is non-covalent and maintains (TGF-beta-3) in a latent state. Latency-associated peptide: Interacts with LRRC32/GARP; leading to regulate activation of TGF-beta-3 and promote epithelial fusion during palate development. Latency-associated peptide: Interacts (via cell attachment site) with integrins, leading to release of the active TGF-beta-3. Transforming growth factor beta-3: Homodimer; disulfide-linked. Transforming growth factor beta-3: Interacts with TGF-beta receptors (TGFBR1 and TGFBR2), leading to signal transduction.

Subcellular location. Secreted. Extracellular space. Extracellular matrix Secreted.

Post-translational modifications. Transforming growth factor beta-3 proprotein: The precursor proprotein is cleaved in the Golgi apparatus to form Transforming growth factor beta-3 (TGF-beta-3) and Latency-associated peptide (LAP) chains, which remain non-covalently linked, rendering TGF-beta-3 inactive. Methylated at Gln-293 by N6AMT1.

Disease relevance. Arrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1) [MIM:107970] A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. The disease is caused by variants affecting the gene represented in this entry. Loeys-Dietz syndrome 5 (LDS5) [MIM:615582] A form of Loeys-Dietz syndrome, a syndrome with widespread systemic involvement characterized by arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. LDS5 additional variable features include mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity. LDS5 patients do not manifest remarkable aortic or arterial tortuosity, and there is no strong evidence for early aortic dissection. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the TGF-beta family.

Isoforms (2)

UniProt ID	Names	Canonical?
P10600-1	1	yes
P10600-2	2

RefSeq proteins (3): NP_001316867, NP_001316868, NP_003230* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001111	TGF-b_propeptide	Domain
IPR001839	TGF-b_C	Domain
IPR015615	TGF-beta-like	Family
IPR015618	TGFB3	Family
IPR016319	TGF-beta	Family
IPR017948	TGFb_CS	Conserved_site
IPR029034	Cystine-knot_cytokine	Homologous_superfamily

Pfam: PF00019, PF00688

UniProt features (40 total): strand 13, helix 8, disulfide bond 5, glycosylation site 3, chain 2, sequence variant 2, turn 2, signal peptide 1, splice variant 1, mutagenesis site 1, short sequence motif 1, modified residue 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
1TGJ	X-RAY DIFFRACTION	2
1KTZ	X-RAY DIFFRACTION	2.15
4UM9	X-RAY DIFFRACTION	2.5
8V52	X-RAY DIFFRACTION	2.5
8VS6	ELECTRON MICROSCOPY	2.73
8VSB	ELECTRON MICROSCOPY	2.93
2PJY	X-RAY DIFFRACTION	3
9B9F	X-RAY DIFFRACTION	3
3EO1	X-RAY DIFFRACTION	3.1
1TGK	X-RAY DIFFRACTION	3.3
9FK5	ELECTRON MICROSCOPY	4.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P10600-F1	77.48	0.33

Antibody-complex structures (SAbDab): 2 — 3EO1, 8V52

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): 293

Disulfide bonds (5): 344–409, 348–411, 377, 307–316, 315–378

Glycosylation sites (3): 74, 135, 142

Mutagenesis-validated functional residues (1):

Position	Phenotype
293	abolishes methylation by n6amt1.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-2129379	Molecules associated with elastic fibres
R-HSA-2173789	TGF-beta receptor signaling activates SMADs
R-HSA-3000178	ECM proteoglycans
R-HSA-109582	Hemostasis
R-HSA-1474244	Extracellular matrix organization
R-HSA-1566948	Elastic fibre formation
R-HSA-162582	Signal Transduction
R-HSA-170834	Signaling by TGF-beta Receptor Complex
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+
R-HSA-9006936	Signaling by TGFB family members

MSigDB gene sets: 787 (showing top): GOBP_SMAD_PROTEIN_SIGNAL_TRANSDUCTION, MODULE_92, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_BODY_MORPHOGENESIS, FREAC2_01, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, REACTOME_SIGNALING_BY_TGF_BETA_RECEPTOR_COMPLEX, MYOGENIN_Q6, GOBP_GLAND_MORPHOGENESIS, HNF3ALPHA_Q6, GOBP_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION, HARRIS_HYPOXIA, GOBP_POSITIVE_REGULATION_OF_EPITHELIAL_TO_MESENCHYMAL_TRANSITION, GOBP_SALIVARY_GLAND_DEVELOPMENT

GO Biological Process (36): response to hypoxia (GO:0001666), in utero embryonic development (GO:0001701), transforming growth factor beta receptor signaling pathway (GO:0007179), salivary gland morphogenesis (GO:0007435), heart development (GO:0007507), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell population proliferation (GO:0008285), positive regulation of epithelial to mesenchymal transition (GO:0010718), negative regulation of macrophage cytokine production (GO:0010936), mammary gland development (GO:0030879), response to progesterone (GO:0032570), positive regulation of collagen biosynthetic process (GO:0032967), regulation of cell population proliferation (GO:0042127), odontogenesis (GO:0042476), uterine wall breakdown (GO:0042704), positive regulation of apoptotic process (GO:0043065), negative regulation of neuron apoptotic process (GO:0043524), cell-cell junction organization (GO:0045216), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), lung alveolus development (GO:0048286), positive regulation of protein secretion (GO:0050714), positive regulation of filopodium assembly (GO:0051491), positive regulation of stress fiber assembly (GO:0051496), positive regulation of cell division (GO:0051781), face morphogenesis (GO:0060325), positive regulation of SMAD protein signal transduction (GO:0060391), secondary palate development (GO:0062009), detection of hypoxia (GO:0070483), negative regulation of vascular associated smooth muscle cell proliferation (GO:1904706), positive regulation of tight junction disassembly (GO:1905075), positive regulation of cell differentiation (GO:0045597), positive regulation of cellular component organization (GO:0051130), positive regulation of multicellular organismal process (GO:0051240), cellular response to growth factor stimulus (GO:0071363), transforming growth factor beta receptor superfamily signaling pathway (GO:0141091)

GO Molecular Function (9): type II transforming growth factor beta receptor binding (GO:0005114), cytokine activity (GO:0005125), growth factor activity (GO:0008083), type I transforming growth factor beta receptor binding (GO:0034713), type III transforming growth factor beta receptor binding (GO:0034714), identical protein binding (GO:0042802), transforming growth factor beta binding (GO:0050431), transforming growth factor beta receptor binding (GO:0005160), protein binding (GO:0005515)

GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), extracellular matrix (GO:0031012), platelet alpha granule lumen (GO:0031093)

Reactome top-level categories

Rollup of top-8 pathways:

Category	Pathways
Extracellular matrix organization	2
Response to elevated platelet cytosolic Ca2+	1
Elastic fibre formation	1
Signaling by TGF-beta Receptor Complex	1
Signaling by TGFB family members	1
Hemostasis	1
Platelet activation, signaling and aggregation	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell population proliferation	3
transforming growth factor beta receptor binding	3
regulation of cell population proliferation	2
receptor ligand activity	2
response to stress	1
response to decreased oxygen levels	1
chordate embryonic development	1
cellular response to transforming growth factor beta stimulus	1
transforming growth factor beta receptor superfamily signaling pathway	1
salivary gland development	1
gland morphogenesis	1
animal organ development	1
circulatory system development	1
positive regulation of cellular process	1
negative regulation of cellular process	1
epithelial to mesenchymal transition	1
regulation of epithelial to mesenchymal transition	1
positive regulation of cell differentiation	1
positive regulation of multicellular organismal process	1
negative regulation of cytokine production involved in immune response	1
macrophage cytokine production	1
regulation of macrophage cytokine production	1
gland development	1
response to steroid hormone	1
response to ketone	1
positive regulation of biosynthetic process	1
positive regulation of collagen metabolic process	1
collagen biosynthetic process	1
regulation of collagen biosynthetic process	1
regulation of cellular process	1
animal organ morphogenesis	1
ovulation cycle process	1
menstruation	1
apoptotic process	1
regulation of apoptotic process	1
positive regulation of programmed cell death	1
negative regulation of apoptotic process	1
regulation of neuron apoptotic process	1
neuron apoptotic process	1
cell junction organization	1

Protein interactions and networks

STRING

2938 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TGFB3	TGFBR1	P36897	997
TGFB3	TGFBR2	P37173	997
TGFB3	ENG	P17813	993
TGFB3	TGFBR3	Q03167	989
TGFB3	THBS1	P07996	886
TGFB3	TGFB1	P01137	885
TGFB3	PKP2	Q99959	862
TGFB3	SMAD2	Q15796	857
TGFB3	SMAD3	P84022	856
TGFB3	JUP	P14923	855
TGFB3	TMEM43	Q9BTV4	855
TGFB3	LTBP1	P22064	847
TGFB3	TGFB2	P08112	843
TGFB3	MSX1	P28360	833
TGFB3	LTBP3	Q9NS15	824

IntAct

20 interactions, top by confidence:

A	B	Type	Score
TGFB3	TGFBR2	psi-mi:“MI:0407”(direct interaction)	0.770
TGFBR2	TGFB3	psi-mi:“MI:0407”(direct interaction)	0.770
TGFB3	TGFBR1	psi-mi:“MI:0915”(physical association)	0.630
TGFB3	TGFB3	psi-mi:“MI:0407”(direct interaction)	0.620
ITGAV	TGFB3	psi-mi:“MI:0407”(direct interaction)	0.440
TGFB3	TGFBR3	psi-mi:“MI:0407”(direct interaction)	0.440
TGFB3	ZMYM3	psi-mi:“MI:0915”(physical association)	0.400
TGFB3	LTBP4	psi-mi:“MI:0915”(physical association)	0.400
CCL20	TGFB3	psi-mi:“MI:0915”(physical association)	0.370
TGFB3	SDC4	psi-mi:“MI:0915”(physical association)	0.370
CHMP2A	TGFB3	psi-mi:“MI:0915”(physical association)	0.370
HTRA4	PSMD12	psi-mi:“MI:0914”(association)	0.350
FMR1	TGFB3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): TGFB3 (Reconstituted Complex), TGFBR2 (Reconstituted Complex), TGFB3 (Co-crystal Structure), ZMYM3 (Proximity Label-MS), TGFB3 (Affinity Capture-Western), TGFB3 (Affinity Capture-Western), TGFB3 (Affinity Capture-MS), TGFB3 (Co-localization), TGFB3 (Co-localization), TGFB3 (Affinity Capture-RNA), TGFB3 (Affinity Capture-Western), TGFB3 (Two-hybrid), TGFB3 (Two-hybrid), TGFB3 (Two-hybrid)

ESM2 similar proteins: A1A5X5, A4IH36, D4AB34, O93449, O95150, O97605, O97626, P04088, P04924, P09529, P10600, P15203, P16047, P17125, P17491, P27093, P36939, P36940, P41047, P42917, P48023, P50591, P50592, P59694, P59695, P63306, P63307, P63308, Q04999, Q07258, Q5UBV8, Q5XIG2, Q6PGN1, Q80WL1, Q861W5, Q8BGU2, Q8BMF8, Q8IUK8, Q8K3Y7, Q8R2Z0

Diamond homologs: A8E7N9, G5EEL5, O08717, O13048, O19006, O46564, O46576, O61643, O88959, O95393, P04088, P07713, P08476, P09529, P09534, P09858, P10600, P12643, P12645, P15203, P16176, P17125, P17491, P18075, P18331, P20722, P20863, P21214, P21274, P21275, P22003, P22004, P22444, P23359, P25703, P27090, P27091, P27093, P30884, P30885

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
TGFB3	up-regulates	TGFBR2	binding
TGFB3	up-regulates	TGFB3	binding
FOXE1	“up-regulates quantity by expression”	TGFB3	“transcriptional regulation”
TGFB3	up-regulates	Angiogenesis

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	45
Likely pathogenic	31
Uncertain significance	351
Likely benign	219
Benign	14

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1031323	NM_003239.5(TGFB3):c.411del (p.Ser138fs)	Pathogenic
1072149	NM_003239.5(TGFB3):c.990G>A (p.Trp330Ter)	Pathogenic
1075580	NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer)	Pathogenic
1215028	NM_003239.5(TGFB3):c.621del (p.Val208fs)	Pathogenic
1369504	NM_003239.5(TGFB3):c.996G>A (p.Trp332Ter)	Pathogenic
1392107	NM_003239.5(TGFB3):c.723del (p.Asn241fs)	Pathogenic
143945	NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln)	Pathogenic
1451952	NM_003239.5(TGFB3):c.355del (p.Glu119fs)	Pathogenic
1453884	NM_003239.5(TGFB3):c.436del (p.Leu146fs)	Pathogenic
1701238	NM_003239.5(TGFB3):c.623_624del (p.Val208fs)	Pathogenic
2014576	NM_003239.5(TGFB3):c.170del (p.Pro57fs)	Pathogenic
2022384	NM_003239.5(TGFB3):c.170_171del (p.Pro57fs)	Pathogenic
2026166	NM_003239.5(TGFB3):c.722del (p.Asn241fs)	Pathogenic
2029032	NM_003239.5(TGFB3):c.95_96insA (p.Phe32fs)	Pathogenic
203489	NM_003239.5(TGFB3):c.754+2T>C	Pathogenic
203491	NM_003239.5(TGFB3):c.704del (p.Asn235fs)	Pathogenic
2084927	NM_003239.5(TGFB3):c.912dup (p.Asn305fs)	Pathogenic
2126250	NM_003239.5(TGFB3):c.638del (p.Leu212_Leu213insTer)	Pathogenic
2138172	NM_003239.5(TGFB3):c.427A>T (p.Arg143Ter)	Pathogenic
2751751	NM_003239.5(TGFB3):c.516+1G>T	Pathogenic
2783914	NM_003239.5(TGFB3):c.547C>T (p.Gln183Ter)	Pathogenic
2806440	NM_003239.5(TGFB3):c.496C>T (p.Gln166Ter)	Pathogenic
2862180	NM_003239.5(TGFB3):c.496_497del (p.Gln166fs)	Pathogenic
3223152	NM_003239.5(TGFB3):c.971_972delinsACATTGACTACAT (p.Phe324fs)	Pathogenic
3244030	NC_000014.8:g.(?76425530)(76447236_?)del	Pathogenic
3244031	NC_000014.8:g.(?76446865)(76447236_?)del	Pathogenic
3244032	NC_000014.8:g.(?76425530)(76427439_?)del	Pathogenic
3325699	NM_003239.5(TGFB3):c.337_344delinsTAAGAATTT (p.Gly113_Ala115delinsTer)	Pathogenic
3632516	NM_003239.5(TGFB3):c.466dup (p.Val156fs)	Pathogenic
3644729	NM_003239.5(TGFB3):c.583_584dup (p.Thr196fs)	Pathogenic

SpliceAI

1186 predictions. Top by Δscore:

Variant	Effect	Δscore
14:75961012:T:TA	donor_gain	1.0000
14:75963350:T:TA	donor_gain	1.0000
14:75963485:CGC:C	acceptor_gain	1.0000
14:75963486:GCC:G	acceptor_loss	1.0000
14:75963488:C:CC	acceptor_gain	1.0000
14:75964493:A:AC	donor_gain	1.0000
14:75964494:C:CC	donor_gain	1.0000
14:75964510:A:C	donor_gain	1.0000
14:75965696:C:CC	acceptor_gain	1.0000
14:75971125:CCT:C	donor_gain	1.0000
14:75971251:AGGAT:A	acceptor_gain	1.0000
14:75971256:C:CC	acceptor_gain	1.0000
14:75971256:C:T	acceptor_loss	1.0000
14:75971257:T:C	acceptor_loss	1.0000
14:75971550:GTTAC:G	donor_loss	1.0000
14:75971551:TTA:T	donor_loss	1.0000
14:75971552:TA:T	donor_loss	1.0000
14:75971714:TTCGT:T	acceptor_gain	1.0000
14:75971715:TCGT:T	acceptor_gain	1.0000
14:75971716:CGT:C	acceptor_gain	1.0000
14:75971716:CGTC:C	acceptor_gain	1.0000
14:75971717:GTC:G	acceptor_loss	1.0000
14:75971718:TCT:T	acceptor_loss	1.0000
14:75971719:C:CC	acceptor_gain	1.0000
14:75971719:C:CG	acceptor_loss	1.0000
14:75971720:T:G	acceptor_loss	1.0000
14:75971726:A:C	acceptor_gain	1.0000
14:75980540:A:AC	donor_gain	1.0000
14:75980541:C:CC	donor_gain	1.0000
14:75980541:CT:C	donor_gain	1.0000

AlphaMissense

2719 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:75959194:C:G	C411S	1.000
14:75959195:A:G	C411R	1.000
14:75959195:A:T	C411S	1.000
14:75959199:A:C	C409W	1.000
14:75959200:C:G	C409S	1.000
14:75959200:C:T	C409Y	1.000
14:75959201:A:G	C409R	1.000
14:75959201:A:T	C409S	1.000
14:75959292:G:C	C378W	1.000
14:75959293:C:A	C378F	1.000
14:75959293:C:G	C378S	1.000
14:75959293:C:T	C378Y	1.000
14:75959294:A:G	C378R	1.000
14:75959294:A:T	C378S	1.000
14:75959295:G:C	C377W	1.000
14:75959296:C:T	C377Y	1.000
14:75960959:G:C	C348W	1.000
14:75960960:C:G	C348S	1.000
14:75960960:C:T	C348Y	1.000
14:75960961:A:G	C348R	1.000
14:75960961:A:T	C348S	1.000
14:75960967:C:A	G346C	1.000
14:75960971:G:C	C344W	1.000
14:75960972:C:G	C344S	1.000
14:75960972:C:T	C344Y	1.000
14:75960973:A:G	C344R	1.000
14:75960973:A:T	C344S	1.000
14:75961007:C:A	W332C	1.000
14:75961007:C:G	W332C	1.000
14:75961009:A:G	W332R	1.000

dbSNP variants (sampled 300 via entrez): RS1000167938 (14:75978795 T>C), RS1000208994 (14:75963285 G>A,C), RS1000265244 (14:75972107 C>G,T), RS1000447763 (14:75966036 T>C), RS1000674578 (14:75969661 G>A,C), RS1000679465 (14:75971160 G>A,T), RS1000817929 (14:75964821 G>A), RS1000855467 (14:75963141 A>G), RS1000881883 (14:75966319 G>C), RS1000903289 (14:75977361 C>G,T), RS1001188041 (14:75964451 C>T), RS1001305122 (14:75965443 A>T), RS1001307487 (14:75962765 G>T), RS1001331332 (14:75974120 A>G), RS1001599102 (14:75980155 T>C)

Disease associations

OMIM: gene MIM:190230 | disease phenotypes: MIM:615582, MIM:607086, MIM:107970, MIM:609192, MIM:601144, MIM:614816

GenCC curated gene-disease

Disease	Classification	Inheritance
Rienhoff syndrome	Definitive	Autosomal dominant
familial thoracic aortic aneurysm and aortic dissection	Supportive	Autosomal dominant
Loeys-Dietz syndrome	Limited	Autosomal recessive
arrhythmogenic right ventricular dysplasia 1	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
arrhythmogenic right ventricular cardiomyopathy	Limited	AD
familial thoracic aortic aneurysm and aortic dissection	Limited	AD

Mondo (12): Rienhoff syndrome (MONDO:0014262), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), arrhythmogenic right ventricular dysplasia 1 (MONDO:0007152), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587), long QT syndrome (MONDO:0002442), hypertrophic cardiomyopathy (MONDO:0005045), Loeys-Dietz syndrome (MONDO:0018954), cardiomyopathy (MONDO:0004994), hereditary disorder of connective tissue (MONDO:0023603), Brugada syndrome (MONDO:0015263), dilated cardiomyopathy (MONDO:0005021), Loeys-Dietz syndrome 4 (MONDO:0013897)

Orphanet (8): Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387), Uhl anomaly (Orphanet:3403), Inherited arrhythmogenic cardiomyopathy (Orphanet:247), Rare hypertrophic cardiomyopathy (Orphanet:217569), Loeys-Dietz syndrome (Orphanet:60030), Rare cardiomyopathy (Orphanet:167848), Brugada syndrome (Orphanet:130), Dilated cardiomyopathy (Orphanet:217604)

HPO phenotypes

122 total (30 of 122 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000023	Inguinal hernia
HP:0000098	Tall stature
HP:0000175	Cleft palate
HP:0000185	Cleft soft palate
HP:0000193	Bifid uvula
HP:0000202	Orofacial cleft
HP:0000218	High palate
HP:0000248	Brachycephaly
HP:0000268	Dolichocephaly
HP:0000272	Malar flattening
HP:0000276	Long face
HP:0000278	Retrognathia
HP:0000283	Broad face
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000347	Micrognathia
HP:0000396	Overfolded helix
HP:0000426	Prominent nasal bridge
HP:0000494	Downslanted palpebral fissures
HP:0000508	Ptosis
HP:0000520	Proptosis
HP:0000525	Abnormality iris morphology
HP:0000545	Myopia
HP:0000592	Blue sclerae
HP:0000637	Long palpebral fissure
HP:0000766	Abnormal sternum morphology
HP:0000767	Pectus excavatum
HP:0000768	Pectus carinatum
HP:0000822	Hypertension

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST90013466_61	Height	2.000000e-10
GCST90013468_29	Height	2.000000e-07

MeSH disease descriptors (7)

Descriptor	Name	Tree numbers
D019571	Arrhythmogenic Right Ventricular Dysplasia	C14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145
D053840	Brugada Syndrome	C14.280.067.322; C14.280.123.250; C16.320.100
D009202	Cardiomyopathies	C14.280.238
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D055947	Loeys-Dietz Syndrome	C05.660.207.532; C14.907.055.239.587; C14.907.109.139.587; C16.131.077.537; C16.320.510
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: yes

ChEMBL targets (2): CHEMBL3712903 (SINGLE PROTEIN), CHEMBL3988637 (PROTEIN FAMILY)

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

CTD chemical–gene interactions

97 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, decreases expression, increases expression, decreases reaction	11
Cadmium	decreases reaction, increases expression, increases secretion, increases abundance, affects cotreatment (+1 more)	4
Dexamethasone	decreases reaction, decreases response to substance, affects cotreatment, decreases expression, increases expression	4
bisphenol A	increases expression, decreases reaction, decreases expression	3
sodium arsenite	increases secretion, affects cotreatment, decreases reaction, increases expression	3
Cadmium Chloride	increases abundance, affects cotreatment, decreases reaction, increases expression, increases secretion (+1 more)	3
Air Pollutants	decreases expression, increases abundance, decreases methylation, increases expression	2
Arsenic	decreases expression, affects methylation, affects cotreatment	2
Ascorbic Acid	decreases reaction, decreases response to substance, affects cotreatment, decreases expression, increases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
Cisplatin	decreases response to substance, increases expression	2
Diethylstilbestrol	increases expression	2
Tetrachlorodibenzodioxin	decreases expression, increases expression	2
Tretinoin	decreases reaction, decreases expression	2
Zeranol	increases expression	2
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression, increases expression	2
Particulate Matter	increases abundance, decreases methylation, increases expression, decreases expression	2
bisphenol F	affects cotreatment, increases expression	1
aminomethylphosphonic acid (AMPA)	decreases expression	1
cobaltiprotoporphyrin	decreases secretion, decreases reaction	1
ethyl-p-hydroxybenzoate	increases expression	1
arsenite	decreases expression	1
trimellitic anhydride	affects expression	1
afimoxifene	decreases expression, decreases reaction	1
sulforaphane	decreases expression	1
nonylphenol	increases expression, decreases reaction	1
aflatoxin B2	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, decreases expression	1
cordycepin	increases secretion	1
paricalcitol	increases expression, affects cotreatment	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3883175	Binding	Inhibition of TGF-beta-induced acid-soluble collagen levels in lung fibroblasts isolated from late stage idiopathic pulmonary fibrosis patient at 20 uM after 24 hrs by sircol collagen assay	Dimethylarginine Dimethylaminohydrolase inhibitors and methods of use thereof

Cellosaurus cell lines

2 cell lines: 1 induced pluripotent stem cell, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_C0C8	BBANTWi010-A	Induced pluripotent stem cell	Male
CVCL_E0QU	Ubigene HeLa TGFB3 KO	Cancer cell line	Female

Clinical trials (associated diseases)

228 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
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
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.
NCT03593317	PHASE2	RECRUITING	Blockade of the Renin-angiotensin-aldosterone System in Patients With ARVD
NCT03685149	PHASE2	COMPLETED	Pilot Randomized Trial With Flecainide in ARVC Patients
NCT06174220	PHASE2	RECRUITING	Targeted Therapy With Glycogen Synthase Kinase-3 Inhibition for Arrhythmogenic Cardiomyopathy
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
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