MYH11

Summary

MYH11 (myosin heavy chain 11, HGNC:7569) is a protein-coding gene on chromosome 16p13.11, encoding Myosin-11 (P35749). Muscle contraction.

The protein encoded by this gene is a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. A chromosomal rearrangement involving this gene is associated with acute myeloid leukemia of the M4Eo subtype. Mutations in this gene are associated with visceral myopathy, megacystis-microcolon-intestinal hypoperistalsis syndrome 2, and familial thoracic aortic aneurysm 4.

Source: NCBI Gene 4629 — RefSeq curated summary.

At a glance

• Gene–disease (curated): familial thoracic aortic aneurysm and aortic dissection (Definitive, ClinGen) — +5 more curated relationships
• GWAS associations: 25
• Clinical variants (ClinVar): 3,634 total — 35 pathogenic, 28 likely-pathogenic
• Phenotypes (HPO): 102
• Cancer driver (intOGen): activating (oncogene-like) across 10 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_002474

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7569
Approved symbol	MYH11
Name	myosin heavy chain 11
Location	16p13.11
Locus type	gene with protein product
Status	Approved
Aliases	SMMHC, SMHC, SMMS-1
Ensembl gene	ENSG00000133392
Ensembl biotype	protein_coding
OMIM	160745
Entrez	4629

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 17 protein_coding, 7 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000300036, ENST00000396324, ENST00000452625, ENST00000570785, ENST00000571275, ENST00000571505, ENST00000571910, ENST00000573908, ENST00000574119, ENST00000576164, ENST00000576790, ENST00000651659, ENST00000652121, ENST00000713757, ENST00000911133, ENST00000911134, ENST00000911135, ENST00000911136, ENST00000911137, ENST00000911138, ENST00000911139, ENST00000911140, ENST00000963701, ENST00000963702, ENST00000963703, ENST00000963704

RefSeq mRNA: 4 — MANE Select: NM_002474 NM_001040113, NM_001040114, NM_002474, NM_022844

CCDS: CCDS10565, CCDS10566, CCDS45423, CCDS45424

Canonical transcript exons

ENST00000300036 — 41 exons

Exon	Start	End
ENSE00000909158	15782385	15782477
ENSE00000909168	15750138	15750331
ENSE00000909169	15748047	15748168
ENSE00000909170	15747874	15747943
ENSE00000909172	15745129	15745237
ENSE00000909173	15741463	15741669
ENSE00000909174	15740051	15740188
ENSE00000909175	15738565	15738688
ENSE00000909176	15737449	15737620
ENSE00000909177	15735366	15735578
ENSE00000909178	15732564	15732708
ENSE00000909180	15724888	15724992
ENSE00001029512	15786630	15786732
ENSE00001029538	15714909	15715081
ENSE00001029555	15741760	15741891
ENSE00001106658	15747570	15747730
ENSE00001131314	15726848	15727054
ENSE00002643568	15703135	15704123
ENSE00002662444	15856941	15857028
ENSE00003459223	15724647	15724799
ENSE00003467088	15719585	15719713
ENSE00003468829	15776078	15776176
ENSE00003478662	15798660	15798687
ENSE00003517919	15719220	15719308
ENSE00003525773	15778780	15778843
ENSE00003528672	15718315	15718438
ENSE00003543753	15720839	15721051
ENSE00003550972	15837908	15838269
ENSE00003557812	15717140	15717348
ENSE00003559452	15771569	15771712
ENSE00003567222	15715164	15715272
ENSE00003581702	15759576	15759728
ENSE00003604193	15753394	15753508
ENSE00003608180	15823255	15823411
ENSE00003608291	15756341	15756514
ENSE00003609181	15757827	15758000
ENSE00003612287	15720151	15720312
ENSE00003620233	15724161	15724409
ENSE00003626018	15760540	15760658
ENSE00003657690	15721422	15721634
ENSE00003669277	15763796	15763891

Expression profiles

Bgee: expression breadth ubiquitous, 143 present calls, max score 99.93.

FANTOM5 (CAGE): breadth broad, TPM avg 34.8092 / max 8381.6968, expressed in 276 samples.

FANTOM5 promoters (49 alternative TSS)

Promoter ID	TPM avg	Samples expressed
156518	30.6081	241
156470	0.4050	58
156471	0.3565	58
156520	0.3536	83
156465	0.2626	47
156475	0.2041	47
156458	0.1950	43
156437	0.1858	45
156468	0.1302	39
156431	0.1174	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	99.93	gold quality
lower esophagus	UBERON:0013473	99.93	gold quality
lower esophagus muscularis layer	UBERON:0035833	99.93	gold quality
mucosa of stomach	UBERON:0001199	99.92	gold quality
popliteal artery	UBERON:0002250	99.92	gold quality
artery	UBERON:0001637	99.91	gold quality
tibial artery	UBERON:0007610	99.91	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	99.89	gold quality
muscle layer of sigmoid colon	UBERON:0035805	99.85	gold quality
left coronary artery	UBERON:0001626	99.84	gold quality
descending thoracic aorta	UBERON:0002345	99.84	gold quality
smooth muscle tissue	UBERON:0001135	99.83	gold quality
thoracic aorta	UBERON:0001515	99.82	gold quality
myometrium	UBERON:0001296	99.81	gold quality
ascending aorta	UBERON:0001496	99.81	gold quality
body of uterus	UBERON:0009853	99.80	gold quality
prostate gland	UBERON:0002367	99.75	gold quality
left uterine tube	UBERON:0001303	99.72	gold quality
urinary bladder	UBERON:0001255	99.65	gold quality
fundus of stomach	UBERON:0001160	99.60	gold quality
gall bladder	UBERON:0002110	99.42	gold quality
lower esophagus mucosa	UBERON:0035834	99.42	gold quality
endocervix	UBERON:0000458	99.31	gold quality
esophagus	UBERON:0001043	99.24	gold quality
colon	UBERON:0001155	99.02	gold quality
right uterine tube	UBERON:0001302	98.97	gold quality
intestine	UBERON:0000160	98.87	gold quality
colonic epithelium	UBERON:0000397	98.69	gold quality
vermiform appendix	UBERON:0001154	98.64	gold quality
stomach	UBERON:0000945	98.60	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 14.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	11194.80
E-MTAB-11268	yes	3647.32
E-CURD-126	yes	3018.44
E-MTAB-9543	yes	3016.30
E-HCAD-36	yes	2244.91
E-HCAD-38	yes	1562.68
E-GEOD-135922	yes	1171.42
E-MTAB-10662	yes	1027.02
E-MTAB-10287	yes	108.94
E-MTAB-8410	yes	34.76
E-HCAD-1	yes	34.40
E-HCAD-11	yes	19.17
E-CURD-119	yes	11.77
E-MTAB-9689	no	116.34
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1, GATA6, HMGXB4, KLF5, KLF9, MEF2B, MYC, NOTCH1, RBPJ, SP1, SRF, TEF, TFAP2A

miRNA regulators (miRDB)

67 targeting MYH11, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6772-5P	99.94	67.01	577
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-659-3P	99.85	70.69	1620
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-580-3P	99.67	69.23	1841

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• sequence deletion in Pseudoxanthoma elasticum (PMID:11439001)
• leukemogenic fusion gene (with Cbfb) plays a role in hematopoiesis (PMID:12239155)
• Plag1 and Plagl2 are novel leukemia oncogenes that act by expanding hematopoietic progenitors expressing CbF beta-SMMHC. (PMID:15585652)
• Human MYH11 gene mutations provide the first example of a direct change in a specific smooth muscle cell protein leading to an inherited arterial diseases (PMID:16444274)
• Detection of acute myeloid leukemic cells that are characterized by a CBFB-MYH11 gene fusion. (PMID:16502584)
• These observations suggest that when abdominal GS is diagnosed, an analysis of the CBFB/MYH11 fusion gene is necessary to make an appropriate decision regarding treatment options, even if no chromosomal abnormalities are found. (PMID:16504290)
• Agents interacting with the outer surface of the CBFbeta-SMMHC ACD that prevent multimerization may be effective as novel therapeutics in AML (PMID:16767164)
• Rare fusion transcripts were correlated with an atypical cytomorphology not primarily suggestive for the FAB subtype acute myelocytic leukemia. (PMID:17287858)
• Examine consequences of expression of abnormal chimeric protein CBFbeta-MYH11 in acute myelomonocytic leukemia. (PMID:17571080)
• MYH11 mutations are likely to be specific to the phenotype of thoracic aortic aneurysms and dissections associated with patent ductus arteriosus and result in a distinct aortic and occlusive vascular pathology potentially driven by IGF-1 and Ang II. (PMID:17666408)
• MYH11 gene is involved in only rare instances when persistent patency of the arterial duct occurs in sporadic fashion. (PMID:17956658)
• MYH11 mutations in patients with colorectal cancer, Peutz-Jeghers syndrome and juvenile polyposis . (PMID:18391202)
• Little evidence for a role of somatic MYH11 mutations in the formation of breast or prostate cancers (PMID:18796164)
• three novel amino acid substitutions in MYH11 in AML samples, located in the highly conserved myosin head and rod essential for motor function and regulation of MYH11 (PMID:18798114)
• MYH11 mutation is not required for early hereditary nonpolyposis colorectal cancer adenoma formation, but it is selected for in the process of microsattelite instability positive cancer tumorigenesis. (PMID:18941465)
• Selective overexpression of airway smooth muscle genes in asthmatic airways leads to increased Vmax, thus contributing to the airway hyperresponsiveness observed in asthma. (PMID:19011151)
• Data show that the purified hMDCs cultured in SMIM for 4 weeks and expressed significant amount of smooth muscle myosin heavy chain and alpha-smooth muscle actin. (PMID:20132408)
• CBFB-MYH11 rearrangement is associated with acute myeloid leukemia. (PMID:20508610)
• Data suggest that that hASMCs contain a significant pool of functional SMM in the 10S conformation that can assemble into filaments upon changing cellular conditions. (PMID:21205888)
• increased MYH11 expression was found in aortic tissues from TAAD patients with 16p13.1 duplications compared with control aortas. (PMID:21698135)
• MYH11 mutations are rare and are identified in patients with thoracic aortic aneurysm/dissection. (PMID:21937134)
• Data show that homozygous and compound heterozygous changes found in PLOD1 and SLC2A10 may confer autosomal recessive effects, and three MYH11, ACTA2 and COL3A1 heterozygous variants were considered as putative pathogenic gene alterations. (PMID:22001912)
• A rare variant in MYH11, R247C, alters myosin contractile function and smooth muscle cell phenotype, leading to increased proliferation in vitro and in response to vascular injury. (PMID:22511748)
• Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus. (PMID:22968129)
• Our data indicate that the CBFbeta-SMMHC’s C-terminus is essential to induce embryonic hematopoietic defects and leukemogenesis. (PMID:23152542)
• We conclude that non-type A CBFB-MYH11 fusion types associate with distinct clinical and genetic features, including lack of KIT mutations, and a unique gene-expression profile in acute myeloid leukemia (PMID:23160462)
• Transcriptional analysis revealed that upon fusion protein knockdown, a small subset of the CBFbeta-MYH11 target genes show increased expression, confirming a role in transcriptional repression (PMID:24002588)
• overexpression of MYH11 can lead to increased ER stress and autophagy (PMID:24711452)
• MYH11 gene mutation is associated with family history of thoracic aortic aneurysm dissection. (PMID:24921172)
• CBFB contributes to the transcriptional regulation of ribosomal gene expression and provide further understanding of the epigenetic role of CBFB-SMMHC in proliferation and maintenance of the leukemic phenotype. (PMID:25079347)
• Data suggest that expression of MYH11, myosin light chain, and MLCK (myosin-light-chain kinase), is up-regulated in uterine myoma as compared to adjacent smooth muscle cells; expression of MYH11 appears to be involved in cell proliferation. (PMID:25181625)
• we report a novel hypomethylation pattern, specific to CBFB-MYH11 fusion resulting from inv(16) rearrangement in acute myeloid leukemia the expression of which correlated with PBX3 differential methylation (PMID:25266220)
• In familial AAA we found one pathogenic and segregating variant (COL3A1 p.Arg491X), one likely pathogenic and segregating (MYH11 p.Arg254Cys), and fifteen VUS. (PMID:26017485)
• Deletion mutation in MYH11 gene causing familial Thoracic aortic dissection was identified in two independent Japanese pedigrees. (PMID:26056961)
• the presented study demonstrates that CBFB-MYH11-based MRD status during the first 3 months after allo-HCT, but not KIT mutations, can be used to identify patients with a high risk of relapse. (PMID:27650511)
• In patients with MYH11 or ACTA2 variants, the effect of intronic variants on splicing was demonstrated on the mRNA level in the induced smooth muscle cell (SMC), allowing classification into pathogenic or nonpathogenic variants. (PMID:28074631)
• Our results show that MYH11 gene harbors somatic frameshift mutations mostly associated with mutational intratumoral heterogeneity , which together may be features of microsatellite instability gastric cancers and colorectal cancers. (PMID:29517504)
• Circulating levels of myosin-11, which is a smooth muscle cell-specific myosin isoform, may be useful as a biomarker for abdominal aortic aneurysms. (PMID:30004237)
• Novel variants in the ACTA2 and MYH11 genes was identified in a Cypriot family with thoracic aortic aneurysms. (PMID:30526509)
• Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing. (PMID:31389005)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	myh11a	ENSDARG00000009782
danio_rerio	myh11b	ENSDARG00000100972
mus_musculus	Myh11	ENSMUSG00000018830
rattus_norvegicus	Myh11	ENSRNOG00000057880

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYH7 (ENSG00000092054), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYO18B (ENSG00000133454), CCDC102A (ENSG00000135736), MYO1G (ENSG00000136286), MYO7A (ENSG00000137474), MYO1F (ENSG00000142347), CGN (ENSG00000143375), TMF1 (ENSG00000144747), MYH15 (ENSG00000144821), MYO10 (ENSG00000145555), CCDC102B (ENSG00000150636), MYO1E (ENSG00000157483), CCDC158 (ENSG00000163749), MYO1A (ENSG00000166866), MYO5B (ENSG00000167306), MYO7B (ENSG00000169994), MYO1H (ENSG00000174527), MYO1D (ENSG00000176658), MYO18A (ENSG00000196535), MYO6 (ENSG00000196586), MYO5A (ENSG00000197535), MYH6 (ENSG00000197616)

Protein

Protein identifiers

Myosin-11 — P35749 (reviewed: P35749)

Alternative names: Myosin heavy chain 11, Myosin heavy chain, smooth muscle isoform, SMMHC

All UniProt accessions (3): A0A024QZJ4, A0A494C024, P35749

UniProt curated annotations — full annotation on UniProt →

Function. Muscle contraction.

Subunit / interactions. Muscle myosin is a hexameric protein that consists of 2 heavy chain subunits (MHC), 2 alkali light chain subunits (MLC) and 2 regulatory light chain subunits (MLC-2).

Subcellular location. Melanosome.

Tissue specificity. Smooth muscle; expressed in the umbilical artery, bladder, esophagus and trachea. Isoform 1 is mostly found in slowly contracting tonic muscles.

Disease relevance. A chromosomal aberration involving MYH11 is found in acute myeloid leukemia of M4EO subtype. Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein consisting of the 165 N-terminal residues of CBF-beta (PEPB2) and the tail region of MYH11. Aortic aneurysm, familial thoracic 4 (AAT4) [MIM:132900] A disease characterized by permanent dilation of the thoracic aorta usually due to degenerative changes in the aortic wall. It is primarily associated with a characteristic histologic appearance known as ‘medial necrosis’ or ‘Erdheim cystic medial necrosis’ in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. The disease is caused by variants affecting the gene represented in this entry. Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MMIHS2) [MIM:619351] A form of megacystis-microcolon-intestinal hypoperistalsis syndrome, a congenital visceral myopathy primarily affecting females, and characterized by loss of smooth muscle contraction in the bladder and intestine. Affected individuals present at birth with functional obstruction of intestine, microcolon, dilation of bladder, and secondary hydronephrosis. The majority of cases have a fatal outcome due to malnutrition and sepsis, followed by multiorgan failure. MMIHS2 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Visceral myopathy 2 (VSCM2) [MIM:619350] A form of visceral myopathy, a gastrointestinal pseudo-obstruction disorder characterized by impaired function of enteric smooth muscle cells, intestinal dysmotility and paresis, severe abdominal pain, and malnutrition. The disease shows inter- and intrafamilial variability. VSCM2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The rodlike tail sequence is highly repetitive, showing cycles of a 28-residue repeat pattern composed of 4 heptapeptides, characteristic for alpha-helical coiled coils. Limited proteolysis of myosin heavy chain produces 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). HMM can be further cleaved into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2).

Miscellaneous. This isoform with a 7 AA insert in the head domain is predominantly expressed in rapidly contracting phasic muscles. This isoform with a 7 AA insert in the head domain is predominantly expressed in rapidly contracting phasic muscles.

Similarity. Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.

Isoforms (4)

UniProt ID	Names	Canonical?
P35749-1	1, SM-A	yes
P35749-2	2, SM-B1
P35749-3	3, SM-B2
P35749-4	4

RefSeq proteins (4): NP_001035202, NP_001035203, NP_002465, NP_074035 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR001609	Myosin_head_motor_dom-like	Domain
IPR002928	Myosin_tail	Domain
IPR004009	SH3_Myosin	Domain
IPR008989	Myosin_S1_N	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00063, PF01576, PF02736

UniProt features (43 total): sequence variant 11, modified residue 10, region of interest 6, sequence conflict 5, domain 3, compositionally biased region 3, splice variant 2, chain 1, coiled-coil region 1, binding site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9FU2	X-RAY DIFFRACTION	2.58

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P35749-F1	76.49	0.19

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (1): 178–185

Post-translational modifications (10): 8, 23, 40, 129, 1177, 1684, 1722, 1954, 1958, 1971

Function

Pathways and Gene Ontology

Reactome pathways

19 pathways

ID	Pathway
R-HSA-3928663	EPHA-mediated growth cone collapse
R-HSA-416572	Sema4D induced cell migration and growth-cone collapse
R-HSA-445355	Smooth Muscle Contraction
R-HSA-5625740	RHO GTPases activate PKNs
R-HSA-5625900	RHO GTPases activate CIT
R-HSA-5627117	RHO GTPases Activate ROCKs
R-HSA-5627123	RHO GTPases activate PAKs
R-HSA-9927432	Developmental Lineage of Mammary Gland Myoepithelial Cells
R-HSA-1266738	Developmental Biology
R-HSA-162582	Signal Transduction
R-HSA-194315	Signaling by Rho GTPases
R-HSA-195258	RHO GTPase Effectors
R-HSA-2682334	EPH-Ephrin signaling
R-HSA-373755	Semaphorin interactions
R-HSA-397014	Muscle contraction
R-HSA-400685	Sema4D in semaphorin signaling
R-HSA-422475	Axon guidance
R-HSA-9675108	Nervous system development
R-HSA-9716542	Signaling by Rho GTPases, Miro GTPases and RHOBTB3

MSigDB gene sets: 494 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_MUSCLE_TISSUE_DEVELOPMENT, YAGI_AML_WITH_INV_16_TRANSLOCATION, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, MCBRYAN_TERMINAL_END_BUD_UP, KEGG_TIGHT_JUNCTION, GOBP_EXTRACELLULAR_MATRIX_ASSEMBLY, MODULE_329, MODULE_503, SRF_Q5_01, SRF_01, MODULE_66, BROWNE_HCMV_INFECTION_48HR_DN, KEGG_VIRAL_MYOCARDITIS

GO Biological Process (5): smooth muscle contraction (GO:0006939), skeletal muscle myosin thick filament assembly (GO:0030241), actomyosin structure organization (GO:0031032), elastic fiber assembly (GO:0048251), cardiac muscle cell development (GO:0055013)

GO Molecular Function (9): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), structural constituent of muscle (GO:0008307), actin filament binding (GO:0051015), nucleotide binding (GO:0000166), cytoskeletal motor activity (GO:0003774), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (8): cytoplasm (GO:0005737), cytosol (GO:0005829), muscle myosin complex (GO:0005859), myosin II complex (GO:0016460), myosin filament (GO:0032982), melanosome (GO:0042470), extracellular exosome (GO:0070062), myosin complex (GO:0016459)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
RHO GTPase Effectors	4
Axon guidance	2
EPH-Ephrin signaling	1
Sema4D in semaphorin signaling	1
Muscle contraction	1
Developmental Lineages of the Mammary Gland	1
Signaling by Rho GTPases, Miro GTPases and RHOBTB3	1
Signaling by Rho GTPases	1
Semaphorin interactions	1
Nervous system development	1
Developmental Biology	1
Signal Transduction	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
myosin complex	2
muscle contraction	1
skeletal myofibril assembly	1
striated muscle myosin thick filament assembly	1
actin cytoskeleton organization	1
extracellular matrix assembly	1
supramolecular fiber organization	1
striated muscle cell development	1
cardiac cell development	1
cardiac muscle cell differentiation	1
cytoskeletal motor activity	1
polypeptide conformation or assembly isomerase activity	1
ATP-dependent activity	1
protein binding	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
structural molecule activity	1
actin binding	1
protein-containing complex binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
molecular_function	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
cytoplasm	1
myosin II complex	1
contractile muscle fiber	1
supramolecular fiber	1
pigment granule	1
extracellular vesicle	1
actin cytoskeleton	1
protein-containing complex	1

Protein interactions and networks

STRING

3548 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYH11	CBFB	Q13951	978
MYH11	ACTA2	P03996	942
MYH11	RUNX1	Q01196	922
MYH11	TAGLN	Q01995	878
MYH11	CNN1	P51911	860
MYH11	MYLK	Q15746	826
MYH11	RUNX1T1	Q06455	799
MYH11	SMTN	P53814	780
MYH11	MYOCD	Q8IZQ8	779
MYH11	RARA	P10276	719
MYH11	MYL9	P24844	708
MYH11	SRF	P11831	700
MYH11	CALD1	Q05682	686
MYH11	TPM2	P06468	678
MYH11	PRKG1	P14619	677

IntAct

100 interactions, top by confidence:

A	B	Type	Score
CHUK	IKBKB	psi-mi:“MI:0914”(association)	0.960
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
LCP1	PLS3	psi-mi:“MI:0914”(association)	0.640
MYL12B	MYH11	psi-mi:“MI:0915”(physical association)	0.560
YWHAZ	LMNA	psi-mi:“MI:0914”(association)	0.560
MPP1	MYH11	psi-mi:“MI:0914”(association)	0.530
GDF9	MYH11	psi-mi:“MI:0914”(association)	0.530
OVCA2	MYH11	psi-mi:“MI:0914”(association)	0.530
SLC9A8	ZNF432	psi-mi:“MI:0914”(association)	0.530
MYL6	MYL6B	psi-mi:“MI:0914”(association)	0.530
S100A4	OIP5	psi-mi:“MI:0914”(association)	0.530
CFTR	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
MYH11	SMC3	psi-mi:“MI:0915”(physical association)	0.400
	GNAT3	psi-mi:“MI:0915”(physical association)	0.400
ZFAND5	MYH11	psi-mi:“MI:0915”(physical association)	0.400
MYH11	GAMMAHV.ORF40	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (170): MYH11 (Affinity Capture-MS), MYH11 (Affinity Capture-MS), MYH11 (Co-fractionation), MYH11 (Affinity Capture-MS), C4BPA (Affinity Capture-MS), CAPZB (Affinity Capture-MS), FLNA (Affinity Capture-MS), MYL6 (Affinity Capture-MS), RAD51 (Affinity Capture-MS), SVIL (Affinity Capture-MS), YWHAE (Affinity Capture-MS), ARPC5 (Affinity Capture-MS), ACTR3 (Affinity Capture-MS), RALBP1 (Affinity Capture-MS), POC1A (Affinity Capture-MS)

ESM2 similar proteins: A0MP03, A3LYL7, A5DKH0, A5PF48, A6ZMG6, E7F9L8, E9Q634, F1PRN2, F4I460, F4JM19, O00159, O00160, O08638, O88329, O94832, P10568, P10587, P11055, P35748, P35749, P70248, P97479, Q01989, Q04439, Q076A3, Q12965, Q13402, Q17LW0, Q17R14, Q23979, Q27966, Q29P71, Q5SYD0, Q5ZLA6, Q62774, Q62812, Q63355, Q63356, Q63357, Q6BUQ2

Diamond homologs: A2AQP0, A7E2Y1, F1PT61, F4I507, F4I5Q6, F4IVR7, G3UW82, K7U9N8, O08638, O14157, O94477, P02563, P02564, P02565, P02566, P02567, P04461, P05659, P05661, P08799, P08964, P10587, P11055, P12844, P12845, P12847, P12882, P12883, P13533, P13535, P13538, P13539, P13540, P13541, P13542, P14105, P19524, P21271, P24733, P32492

SIGNOR signaling

0 interactions.

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 10 cancer types — AML, BRCA, CHOL, HNSC, LGGNOS, MEL, NPC, PRAD, PROSTATE, SOFT_TISSUE.

Clinical variants and AI predictions

ClinVar

3634 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	35
Likely pathogenic	28
Uncertain significance	1787
Likely benign	1306
Benign	125

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1120184	NM_002474.3(MYH11):c.3519_3520delinsTT (p.Glu1173_Gln1174delinsAspTer)	Pathogenic
1341984	NM_002474.3(MYH11):c.3122-2_3124del	Pathogenic
1420242	NM_002474.3(MYH11):c.5599C>T (p.Gln1867Ter)	Pathogenic
1456354	NM_002474.3(MYH11):c.3277C>T (p.Gln1093Ter)	Pathogenic
1685965	NM_002474.3(MYH11):c.1750-1G>A	Pathogenic
1879334	NM_002474.3(MYH11):c.436A>T (p.Lys146Ter)	Pathogenic
2008795	NM_002474.3(MYH11):c.2334del (p.Glu779fs)	Pathogenic
2029392	NM_002474.3(MYH11):c.3297del (p.Asp1100fs)	Pathogenic
211548	NM_002474.3(MYH11):c.3422_3470del (p.Lys1141fs)	Pathogenic
2115671	NM_002474.3(MYH11):c.1024G>T (p.Glu342Ter)	Pathogenic
2423551	NC_000016.9:g.(?15892497)(15892564_?)del	Pathogenic
2423552	NC_000016.9:g.(?15832402)(15850391_?)del	Pathogenic
2423553	NC_000016.9:g.(?15826401)(15829455_?)del	Pathogenic
242663	NM_002474.3(MYH11):c.4578+1G>T	Pathogenic
2707041	NM_002474.3(MYH11):c.3313C>T (p.Gln1105Ter)	Pathogenic
2726402	NM_002474.3(MYH11):c.4179dup (p.Lys1394fs)	Pathogenic
2837733	NM_002474.3(MYH11):c.1116del (p.Met372fs)	Pathogenic
3644106	NM_002474.3(MYH11):c.3042dup (p.Leu1015fs)	Pathogenic
3681662	NM_002474.3(MYH11):c.1527del (p.Ile509fs)	Pathogenic
3724019	NM_002474.3(MYH11):c.1201_1208del (p.Ile401fs)	Pathogenic
3728366	NM_002474.3(MYH11):c.4278dup (p.Gln1427fs)	Pathogenic
3772086	NM_002474.3(MYH11):c.2283C>G (p.Tyr761Ter)	Pathogenic
3776079	NM_002474.3(MYH11):c.4435dup (p.Arg1479fs)	Pathogenic
4534028	NM_002474.3(MYH11):c.5350G>T (p.Glu1784Ter)	Pathogenic
465704	NC_000016.10:g.(?15823235)(15838272_?)del	Pathogenic
4712298	NM_002474.3(MYH11):c.1861del (p.Asp621fs)	Pathogenic
4721093	NM_002474.3(MYH11):c.3362C>G (p.Ser1121Ter)	Pathogenic
4798407	NM_002474.3(MYH11):c.499C>T (p.Gln167Ter)	Pathogenic
4808176	NM_002474.3(MYH11):c.3071del (p.Asn1024fs)	Pathogenic
4847042	NC_000016.9:g.(?15737238)(15820211_?)del	Pathogenic

SpliceAI

5226 predictions. Top by Δscore:

Variant	Effect	Δscore
16:15714903:CCTCA:C	donor_loss	1.0000
16:15714904:CTCAC:C	donor_loss	1.0000
16:15714905:TCA:T	donor_loss	1.0000
16:15714906:CAC:C	donor_loss	1.0000
16:15714907:A:T	donor_loss	1.0000
16:15715078:CTGC:C	acceptor_gain	1.0000
16:15715080:GCCT:G	acceptor_loss	1.0000
16:15715081:CCT:C	acceptor_loss	1.0000
16:15715082:C:CC	acceptor_gain	1.0000
16:15715083:T:G	acceptor_loss	1.0000
16:15715086:C:CT	acceptor_gain	1.0000
16:15715268:TCTCT:T	acceptor_gain	1.0000
16:15715269:CTCT:C	acceptor_gain	1.0000
16:15715269:CTCTC:C	acceptor_gain	1.0000
16:15715270:TCT:T	acceptor_gain	1.0000
16:15715270:TCTC:T	acceptor_loss	1.0000
16:15715270:TCTCT:T	acceptor_gain	1.0000
16:15715271:CT:C	acceptor_gain	1.0000
16:15715271:CTC:C	acceptor_gain	1.0000
16:15715272:TC:T	acceptor_loss	1.0000
16:15715272:TCT:T	acceptor_gain	1.0000
16:15715273:C:A	acceptor_gain	1.0000
16:15715273:C:CC	acceptor_gain	1.0000
16:15715276:C:CT	acceptor_gain	1.0000
16:15715280:C:CT	acceptor_gain	1.0000
16:15715281:A:T	acceptor_gain	1.0000
16:15715283:C:CT	acceptor_gain	1.0000
16:15717136:ATAC:A	donor_loss	1.0000
16:15717137:TA:T	donor_loss	1.0000
16:15717139:C:CT	donor_loss	1.0000

AlphaMissense

13110 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:15720936:A:G	L1565P	1.000
16:15720942:A:G	L1563P	1.000
16:15720966:A:G	L1555P	1.000
16:15735408:A:G	L1155P	1.000
16:15735420:A:G	L1151P	1.000
16:15741878:A:G	L845P	1.000
16:15741881:A:G	L844P	1.000
16:15745139:A:G	L837P	1.000
16:15745146:A:G	W835R	1.000
16:15745146:A:T	W835R	1.000
16:15745147:C:A	W834C	1.000
16:15745147:C:G	W834C	1.000
16:15745149:A:G	W834R	1.000
16:15745149:A:T	W834R	1.000
16:15745153:C:A	W832C	1.000
16:15745153:C:G	W832C	1.000
16:15745155:A:G	W832R	1.000
16:15745155:A:T	W832R	1.000
16:15745183:G:C	N822K	1.000
16:15745183:G:T	N822K	1.000
16:15747636:C:G	R782P	1.000
16:15747648:A:G	L778P	1.000
16:15747690:C:T	G764E	1.000
16:15748074:C:G	R718P	1.000
16:15748098:A:C	I710S	1.000
16:15748098:A:G	I710T	1.000
16:15748098:A:T	I710N	1.000
16:15748101:C:G	R709P	1.000
16:15748107:C:T	G707D	1.000
16:15748108:C:G	G707R	1.000

dbSNP variants (sampled 300 via entrez): RS1000009173 (16:15768247 G>T), RS1000023648 (16:15747109 A>G), RS1000037320 (16:15851234 A>C), RS1000066363 (16:15767972 C>A), RS1000073725 (16:15713851 T>A), RS1000086623 (16:15847117 G>A), RS1000089132 (16:15761549 G>A,C), RS1000100639 (16:15753173 G>A), RS1000107708 (16:15705572 G>A), RS1000129877 (16:15722775 C>T), RS1000137764 (16:15831462 GGGGTGTGTGTGT>G), RS1000138250 (16:15827202 A>G), RS1000164156 (16:15717858 G>A,T), RS1000174112 (16:15790611 G>A), RS1000178086 (16:15819990 C>A,G)

Disease associations

OMIM: gene MIM:160745 | disease phenotypes: MIM:132900, MIM:607086, MIM:619351, MIM:619350, MIM:249210, MIM:614019, MIM:155310, MIM:609192, MIM:154700, MIM:611788, MIM:160700, MIM:265500

GenCC curated gene-disease

Disease	Classification	Inheritance
familial thoracic aortic aneurysm and aortic dissection	Definitive	Unknown
aortic aneurysm, familial thoracic 4	Strong	Autosomal dominant
megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Strong	Autosomal recessive
megacystis-microcolon-intestinal hypoperistalsis syndrome	Supportive	Autosomal dominant
visceral myopathy 2	Limited	Autosomal recessive
congenital heart disease	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (2)

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

Disease	Classification	Inheritance
congenital heart disease	Limited	AD
familial thoracic aortic aneurysm and aortic dissection	Definitive	AD

Mondo (22): aortic aneurysm, familial thoracic 4 (MONDO:0007568), familial thoracic aortic aneurysm and aortic dissection (MONDO:0019625), megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (MONDO:0025708), visceral myopathy 2 (MONDO:0859157), megacystis-microcolon-intestinal hypoperistalsis syndrome (MONDO:0025986), connective tissue disorder (MONDO:0003900), lissencephaly 4 (MONDO:0013527), visceral myopathy 1 (MONDO:0020754), Loeys-Dietz syndrome (MONDO:0018954), aortic aneurysm, familial thoracic 1 (MONDO:0024559), aortic aneurysm (MONDO:0005160), Marfan syndrome (MONDO:0007947), aortic aneurysm, familial thoracic 6 (MONDO:0012730), myopia (MONDO:0001384), tricuspid valve insufficiency (MONDO:0002870)

Orphanet (12): Familial thoracic aortic aneurysm and aortic dissection (Orphanet:91387), Megacystis-microcolon-intestinal hypoperistalsis syndrome (Orphanet:2241), Microlissencephaly (Orphanet:1083), Familial visceral myopathy (Orphanet:2604), Familial aortic dissection (Orphanet:229), Loeys-Dietz syndrome (Orphanet:60030), Marfan syndrome type 1 (Orphanet:284963), Marfan syndrome (Orphanet:558), Classical Ehlers-Danlos syndrome (Orphanet:287), Congenital pulmonary valvar stenosis (Orphanet:3189), Chronic intestinal pseudoobstruction syndrome (Orphanet:2978), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

102 total (30 of 102 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000021	Megacystis
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000072	Hydroureter
HP:0000098	Tall stature
HP:0000278	Retrognathia
HP:0000316	Hypertelorism
HP:0000407	Sensorineural hearing impairment
HP:0000525	Abnormality iris morphology
HP:0000766	Abnormal sternum morphology
HP:0000822	Hypertension
HP:0000965	Cutis marmorata
HP:0000978	Bruising susceptibility
HP:0001166	Arachnodactyly
HP:0001297	Stroke
HP:0001522	Death in infancy
HP:0001537	Umbilical hernia
HP:0001539	Omphalocele
HP:0001561	Polyhydramnios
HP:0001562	Oligohydramnios
HP:0001640	Cardiomegaly
HP:0001643	Patent ductus arteriosus
HP:0001647	Bicuspid aortic valve
HP:0001659	Aortic regurgitation
HP:0001677	Coronary artery atherosclerosis
HP:0001763	Pes planus
HP:0002015	Dysphagia

GWAS associations

25 associations (top):

Study	Trait	p-value
GCST002138_4	Waist-hip ratio	9.000000e-07
GCST002444_7	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	2.000000e-67
GCST002444_8	Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid)	5.000000e-25
GCST002446_5	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	1.000000e-15
GCST002446_8	Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid)	4.000000e-14
GCST002450_10	Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid)	2.000000e-12
GCST002774_27	Cognitive function	4.000000e-06
GCST003051_1	Multiple myeloma (survival)	7.000000e-09
GCST003225_26	Pelvic organ prolapse (moderate/severe)	3.000000e-07
GCST003818_49	Resting heart rate	1.000000e-17
GCST004751_23	Serum uric acid levels in response to allopurinol in gout	5.000000e-06
GCST005194_237	Coronary artery disease	5.000000e-07
GCST005196_16	Coronary artery disease	9.000000e-07
GCST005789_28	Resting heart rate	1.000000e-09
GCST007096_249	Pulse pressure	2.000000e-08
GCST007269_288	Pulse pressure	4.000000e-08
GCST009251_3	Skin aging measurement	5.000000e-09
GCST009251_4	Skin aging measurement	3.000000e-06
GCST010146_45	Serum immune biomarker levels	1.000000e-08
GCST010320_49	PR interval	4.000000e-08
GCST010796_2621	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-08
GCST010796_2622	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_2623	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010866_67	Coronary artery disease	4.000000e-08
GCST90014033_65	Haemorrhoidal disease	5.000000e-12

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004343	waist-hip ratio
EFO:0005680	omega-6 polyunsaturated fatty acid measurement
EFO:0004337	intelligence
EFO:0000638	overall survival
EFO:0004761	uric acid measurement
EFO:0005763	pulse pressure measurement
EFO:0004869	YKL40 measurement
EFO:0004872	inflammatory biomarker measurement
EFO:0004462	PR interval
EFO:0004327	electrocardiography

MeSH disease descriptors (12)

Descriptor	Name	Tree numbers
D001014	Aortic Aneurysm	C14.907.055.239; C14.907.109.139
D003240	Connective Tissue Diseases	C17.300
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
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
D008382	Marfan Syndrome	C05.116.099.674; C14.240.400.725; C14.280.400.725; C16.131.077.550; C16.131.240.400.720; C16.320.540; C17.300.500
D008944	Mitral Valve Insufficiency	C14.280.484.461
D009216	Myopia	C11.744.636
D014262	Tricuspid Valve Insufficiency	C14.280.484.856
C562834	Aortic Aneurysm, Familial Thoracic 1 (supp.)
C567085	Aortic Aneurysm, Familial Thoracic 6 (supp.)
C537784	Aortic aneurysm, familial thoracic 4 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
triphenyl phosphate	affects expression, decreases expression	2
bisphenol A	decreases expression	2
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	2
Doxorubicin	decreases expression, increases expression	2
Nickel	decreases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
aristolochic acid I	increases expression	1
2,4,6-tribromophenol	decreases expression	1
testosterone enanthate	affects expression	1
decabromobiphenyl ether	decreases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
trimellitic anhydride	decreases expression	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
benzo(e)pyrene	decreases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
Dasatinib	increases expression	1
Decitabine	affects expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Amiodarone	increases expression	1
Arsenic	affects methylation	1
Bleomycin	decreases expression	1
Cisplatin	affects expression	1

Cellosaurus cell lines

9 cell lines: 9 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_2110	ME-1 [Human leukemia]	Cancer cell line	Male
CVCL_G312	ME-F1	Cancer cell line	Male
CVCL_G313	ME-F2	Cancer cell line	Male
CVCL_G314	ME-F3	Cancer cell line	Male
CVCL_G315	ME-F2/ADM100	Cancer cell line	Male
CVCL_G316	ME-F2/ADM200	Cancer cell line	Male
CVCL_RL95	ME-2	Cancer cell line	Male
CVCL_RM25	ME-3	Cancer cell line	Male
CVCL_WS58	ME-1f2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00668824	PHASE4	UNKNOWN	Improved Diagnosis of Congenital Heart Disease by Magnetic Resonance Imaging Using Vasovist
NCT01368705	PHASE4	COMPLETED	Nitrogen Balance in Infants After Post Cardiothoracic Surgery
NCT01619982	PHASE4	COMPLETED	Pre-operative Prophylaxis With Vancomycin and Cefazolin in Pediatric Cardiovascular Surgery Patients
NCT02122679	PHASE4	WITHDRAWN	Tranexamic Acid Effect on Platelet Aggregation Following Infant Cardiopulmonary Bypass
NCT02527811	PHASE4	UNKNOWN	Ulinastatin Injection in in Pediatric Patients Undergoing Open Heart Surgery
NCT03014700	PHASE4	COMPLETED	Fibrinogen Concentrate vs Cryoprecipitate
NCT03408340	PHASE4	TERMINATED	Paravertebral Nerve Blocks in Neonates
NCT03630796	PHASE4	UNKNOWN	Effect of Sevoflurane in Postoperative Troponin I Levels in Children Undergoing Congenital Heart Defects Surgery
NCT03667703	PHASE4	COMPLETED	Stress Ulcer Prophylaxis Versus Placebo in Critically Ill Infants With Congenital Heart Disease
NCT04453761	PHASE4	UNKNOWN	Thiamine Influenced on Substrate Energy Effectiveness in Indonesian Children Undergoing Cardiopulmonary Bypass
NCT06668389	PHASE4	RECRUITING	Sodium-Glucose Cotransporter 2 Inhibitors for Repaired Tetralogy of Fallot Patients for Enhancement of Cardio-Pulmonary Status Trial
NCT07499154	PHASE4	NOT_YET_RECRUITING	Perioperative Lidocaine for Lung Protection in Infants Undergoing Cardiac Surgery
NCT01042158	PHASE4	COMPLETED	A Clinical Trial of Ambrisentan and Tadalafil in Pulmonary Arterial Hypertension Associated With Systemic Sclerosis
NCT03688191	PHASE4	UNKNOWN	Study of Sirolimus in CTD-TP in China
NCT04169100	PHASE4	UNKNOWN	Novel Form of Acquired Long QT Syndrome
NCT04197050	PHASE4	UNKNOWN	Effect of Sacubitril/Valsartan on Reduced Right Ventricular Ejection Fraction in Patients With CTD
NCT04928586	PHASE4	UNKNOWN	Immunosuppressant Combined With Pirfenidone in CTD-ILD
NCT05440240	PHASE4	RECRUITING	Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture
NCT05505409	PHASE4	UNKNOWN	Efficacy and Safety of Pirfenidone in CTD-ILD
NCT06499233	PHASE4	RECRUITING	Efficacy and Safety of Prophylactic Treatment for Pneumocystis Jirovecii Pneumonia in Patients With Autoimmune Inflammatory Rheumatic Disease
NCT00094575	PHASE4	COMPLETED	Standard Open Surgery Versus Endovascular Repair of Abdominal Aortic Aneurysm (AAA)
NCT01033370	PHASE4	TERMINATED	A Safety and Efficacy Study of Blood Pressure Control in Acute Aortic Emergencies - A Pilot Study (PROMPT)
NCT01107366	PHASE4	WITHDRAWN	ATLANTIS:Extensive Type A Dissections and Thoracic/ Thoraco-Abdominal Aneurysms Repair With LupiAe Hybrid TechNique
NCT01354119	PHASE4	TERMINATED	Long-term Benefit of Aortic Stent-graft in Patients With Distal Aortic Dissection
NCT01295047	PHASE4	COMPLETED	Comparison of Medical Therapies in Marfan Syndrome.
NCT00000470	PHASE3	COMPLETED	Infant Heart Surgery: Central Nervous System Sequelae of Circulatory Arrest
NCT00000494	PHASE3	COMPLETED	Management of Patent Ductus in Premature Infants
NCT01134302	PHASE3	UNKNOWN	Hybrid Versus Norwood Management Strategies in Infants Undergoing Single Ventricle Palliation
NCT01607983	PHASE3	WITHDRAWN	Effects of Pulmonary Vasodilation Upon VA Coupling in Fontan Patients
NCT01662011	PHASE3	UNKNOWN	Application of Neurally Adjusted Ventilatory Assist to Children After Congenital Cardiac Surgery
NCT02320669	PHASE3	COMPLETED	Phase 3 Triiodothyronine Supplementation for Infants After Cardiopulmonary Bypass
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