MYH7

Summary

MYH7 (myosin heavy chain 7, HGNC:7577) is a protein-coding gene on chromosome 14q11.2, encoding Myosin-7 (P12883). Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction.

Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing distal myopathy.

Source: NCBI Gene 4625 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypertrophic cardiomyopathy (Definitive, ClinGen) — +12 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 4,410 total — 80 pathogenic, 188 likely-pathogenic
• Phenotypes (HPO): 151
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_000257

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:7577
Approved symbol	MYH7
Name	myosin heavy chain 7
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	CMD1S
Ensembl gene	ENSG00000092054
Ensembl biotype	protein_coding
OMIM	160760
Entrez	4625

Gene structure

Transcript identifiers

Ensembl transcripts: 41 — 41 protein_coding

ENST00000355349, ENST00000713768, ENST00000713769, ENST00000858539, ENST00000858540, ENST00000858541, ENST00000858542, ENST00000858543, ENST00000858544, ENST00000858545, ENST00000858546, ENST00000858547, ENST00000858548, ENST00000858549, ENST00000858550, ENST00000858551, ENST00000965935, ENST00000965936, ENST00000965937, ENST00000965938, ENST00000965939, ENST00000965940, ENST00000965941, ENST00000965942, ENST00000965943, ENST00000965944, ENST00000965945, ENST00000965946, ENST00000965947, ENST00000965948, ENST00000965949, ENST00000965950, ENST00000965951, ENST00000965952, ENST00000965953, ENST00000965954, ENST00000965955, ENST00000965956, ENST00000965957, ENST00000965958, ENST00000965959

RefSeq mRNA: 2 — MANE Select: NM_000257 NM_000257, NM_001407004

CCDS: CCDS9601

Canonical transcript exons

ENST00000355349 — 40 exons

Exon	Start	End
ENSE00000586050	23420958	23421048
ENSE00000654010	23416868	23416992
ENSE00000654012	23417503	23417686
ENSE00000654015	23419483	23419609
ENSE00000654022	23424769	23425024
ENSE00000654023	23425282	23425418
ENSE00000654028	23427240	23427307
ENSE00000654029	23427585	23427894
ENSE00000654031	23428955	23429104
ENSE00000654032	23429229	23429347
ENSE00000654035	23430560	23430663
ENSE00000654039	23431761	23431869
ENSE00000654040	23432479	23432506
ENSE00000654043	23433084	23433227
ENSE00001333121	23434194	23434249
ENSE00001610903	23431418	23431481
ENSE00001617095	23414007	23414102
ENSE00001618128	23425695	23425818
ENSE00001625387	23423907	23424149
ENSE00001636102	23423547	23423723
ENSE00001643045	23425964	23426081
ENSE00001647421	23432639	23432795
ENSE00001661625	23418210	23418406
ENSE00001666341	23413759	23413893
ENSE00001690609	23415629	23415832
ENSE00001701082	23416004	23416312
ENSE00001711774	23419177	23419295
ENSE00001720186	23417153	23417318
ENSE00001747242	23428500	23428670
ENSE00001758206	23414995	23415270
ENSE00001766234	23415381	23415506
ENSE00001767436	23422180	23422325
ENSE00001776760	23419845	23420234
ENSE00001797612	23430901	23430999
ENSE00001797702	23426777	23426864
ENSE00001802826	23429775	23429913
ENSE00001805709	23431585	23431677
ENSE00001910862	23435620	23435660
ENSE00002511061	23433532	23433740
ENSE00004021211	23412740	23412871

Expression profiles

Bgee: expression breadth ubiquitous, 167 present calls, max score 99.94.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 80.0588 / max 21973.8050, expressed in 153 samples.

FANTOM5 promoters (51 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142476	72.1471	134
142440	0.8182	37
142433	0.6857	39
142421	0.6642	35
142428	0.5926	33
142435	0.5797	31
142429	0.4128	33
142471	0.2691	31
142436	0.2510	27
142427	0.2409	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	99.94	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.89	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.82	silver quality
gastrocnemius	UBERON:0001388	99.69	gold quality
biceps brachii	UBERON:0001507	99.69	silver quality
heart right ventricle	UBERON:0002080	99.64	gold quality
cardiac ventricle	UBERON:0002082	99.62	gold quality
heart left ventricle	UBERON:0002084	99.62	gold quality
gluteal muscle	UBERON:0002000	99.60	gold quality
triceps brachii	UBERON:0001509	99.48	gold quality
left ventricle myocardium	UBERON:0006566	99.45	gold quality
skeletal muscle tissue	UBERON:0001134	99.39	gold quality
vastus lateralis	UBERON:0001379	99.38	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.37	silver quality
quadriceps femoris	UBERON:0001377	99.23	gold quality
right atrium auricular region	UBERON:0006631	99.16	gold quality
cardiac atrium	UBERON:0002081	99.12	gold quality
myocardium	UBERON:0002349	99.06	silver quality
diaphragm	UBERON:0001103	98.83	silver quality
deltoid	UBERON:0001476	98.80	silver quality
tibialis anterior	UBERON:0001385	98.60	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.60	silver quality
muscle organ	UBERON:0001630	98.11	gold quality
muscle of leg	UBERON:0001383	97.63	gold quality
body of tongue	UBERON:0011876	96.68	silver quality
heart	UBERON:0000948	95.57	gold quality
muscle tissue	UBERON:0002385	94.18	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.67	gold quality
tongue	UBERON:0001723	85.49	silver quality
body of pancreas	UBERON:0001150	81.93	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	15413.88
E-MTAB-11268	no	4699.75
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BCL11B, EDN1, EZH2, FOXP1, GATA4, GATA5, HESX1, LIF, MEF2C, MEF2D, MYOD1, NFATC1, NFATC4, NKX2-5, NR2C2, SMAD1, SMAD4, SOX6, SP3, SRF, TCF12, TEAD1, TEAD4, TEF, THRA, THRB

miRNA regulators (miRDB)

11 targeting MYH7, 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-4663	99.62	65.33	957
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6814-5P	99.03	66.68	1273
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-1288-5P	98.85	67.01	734
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-561-5P	98.25	68.13	1365
HSA-MIR-4468	98.01	66.85	1187

Functional genomics

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

Literature-anchored findings (GeneRIF, showing 40)

• Mutations in exon 30 and exon 37 linked to familial hypertrophic cardiomyopathy in 4 families (PMID:11861413)
• three novel mutations in exon 21 (PMID:12590187)
• This study identified a missense mutation, Arg1845Trp, in the rod region of slow/beta-cardiac MyHC in patients with a skeletal myopathy from two different families. (PMID:14520662)
• Only one mutation (Arg719Trp) in the beta-myosin heavy chain gene (MYH7) was found in one family, and no disease-causing mutations were found in the genes encoding alpha-actin, cardiac troponin I, T, C, or myosin essential and regulatory light chains. (PMID:15000344)
• Heterozygous mutations toward the 3’ end of MYH7 cause Laing-type early-onset distal myopathy. (PMID:15322983)
• HCM patients with MYH7 were diagnosed at a younger age and had more hypertrophy, but they had no greater frequency of sudden death among first-degree relatives. (PMID:15358028)
• Mutations in the beta-myosin heavy chain gene seem to be relatively uncommon in Finnish dilated cardiomyopathy patients. (PMID:15556047)
• The arginine 1845 tryptophan mutation found in 2 cases of myosin storage myopathy indicates a critical role for myosin residue arginine 1845. (PMID:15699387)
• Study on the correlation of mutations in MYH7 gene and hypertrophic cardiomyopathy. (PMID:15856146)
• Beta-myosin heavy chain gene mutation play important role in etiology of HCMP in patients in Russia. (PMID:15940186)
• beta-cardiac myosin heavy chain may have a role in endocardial fibroelastosis and heart failure [review] (PMID:17019812)
• Results describe the crystal structures of the 126 N-terminal residues of subfragment 2 from human cardiac beta-myosin II, of both WT and the disease-associated E924K mutant. (PMID:17095604)
• Here, we report the clinical and morphological findings of two brothers of English/Scottish background with the Arg1845Trp mutation in MYH7. (PMID:17118657)
• These data demonstrate that Pur proteins collaborate with Sp3 to regulate a transcriptional program that enables muscle cells to remodel their phenotype. (PMID:17145772)
• The MYH7 gene was found responsible for familial hypertrophic cardiomyopathy in the studied family, together with other genes, modifying ones… (PMID:17165166)
• study suggests that the clinical spectrum in MYH7 gene mutation patients is quite broad and includes asymptomatic hyperCKemia, proximal muscle weakness with muscle hypertrophy and scapulo-peroneal weakness (PMID:17336526)
• The missense mutation of MYH7 may lead to Myosin storage myopathy with cardiomyopathy. (PMID:17588755)
• Left ventricular end systolic diameter increased and ejection fraction reduction was noted in the majority of R403W(MYH7)mutations in progression to hypertrophic cardiomyopathy. (PMID:17612745)
• The p.R870H mutation was identified as the etiology of familial hypertrophic cardiomyopathy in an Indian family. The phenotype varied according to gender and other genetic variables. (PMID:17703256)
• study identified a p.Met531Arg mutation in betaMHC in a 13-year-old girl with isolated left ventricular non-compaction; results in a mouse model indicate that the bMHC p.Met531Arg mutation contributes to malignant cardiomyopathy (PMID:17956225)
• MYH7 mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy. (PMID:18029407)
• identification of de novo missense mutation, c.842G>C, in the gene MYH7 in 24 member of the family suffering from noncompaction of the ventricular myocardium (PMID:18159245)
• this novel MYH7 mutation is clinically significant in this family. (PMID:18175163)
• Here we report the first pediatric case of restrictive cardiomyopathy secondary to a de novo mutation in the cardiac myosin heavy chain gene MYH7. (PMID:18380764)
• Nine distinct mutations, 7 of them in MYH7, 1 in ACTC, and 1 in TNNT2, were found unrelated adult probands with left ventricular noncompaction and no other congenital heart anomalies (PMID:18506004)
• Bioinformatics assessment of MYH7 mutations reveals myosin’s high sensitivity to mutations. (Review) (PMID:18555187)
• The results show that the R403Q mutation leads to an apparent gain of protein function but a greater energetic cost of tension generation. (PMID:18565996)
• Data show that there is genetic and phenotypic heterogeneity of cardiomyopathies in Indian population due to MYH7 mutations. (PMID:18953637)
• MYH7 mutation was found invloved in hypertrophic cardiomyopathy. (PMID:19035361)
• We have identified in a woman and her daughter, a pLeu1793Pro mutation in MYH7. This report underlines the clinical variability of myosin storage myopathy even with a given mutation or in a same family. (PMID:19138847)
• The investigators report two cases of ventricular fibrillation and MYH7-associated hypertrophic cardiomyopathy before the development of ventricular hypertrophy. (PMID:19539541)
• A novel double heterozygous missense mutation of Ala26Val plus Arg719Trp in MYH7 was subsequently identified by sequencing in this family and was associated with a severe phenotype of hypertrophic cardiomyopathy. (PMID:19645038)
• a study of three mutations in beta-myosin heavy chain found in cardiomyopathy patients strongly support the notion that major elastic distortion of myosin heads occurs within the converter itself. (PMID:19651039)
• increased myofilament protein levels in patients with MYH7-mediated HCM suggest a poison peptide mechanism (PMID:19808356)
• Both R1500P and R1500W cause a decrease in thermodynamic stability, although the R1500W phenotype is more severe. Both mutations also affect filament assembly, with R1500P causing an additional decrease in filament stability. (PMID:19854198)
• Mutation location in the MYH7 gene and changes in amino acid composition can have a negative impact on the disease outcome in individuals with cardiomyopathy. (PMID:19864899)
• thermodynamic instability of E1356K mutant MYH7 appears to be responsible for the decreased ability of the protein to form filaments and may be responsible for the hypertrophic cardiomyopathy phenotype seen in patients. (PMID:19913502)
• Screening of MYH7, cardiac ACTC and TNNI3 genes in dilated cardiomyopathy patients revealed two missense mutations, seven silent mutations, two polymorphisms in MYH7 gene, and two missense mutations and one silent mutation pertaining to TNNI3 gene. (PMID:20086309)
• The phenotype of the p.K1729del MYH7 mutation is described and its variations causing Laing distal myopathy with electromyographic and pathologic features aand severity. (PMID:20733148)
• The MYH7 gene may be an hypertrophic cardiomyopathy mutation hotspot in the Chinese and have unique features in this study population. (PMID:20819418)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myh7l	ENSDARG00000079782
mus_musculus	Myh7	ENSMUSG00000053093
rattus_norvegicus	Myh7	ENSRNOG00000016983

Paralogs (44): MYH13 (ENSG00000006788), MYO16 (ENSG00000041515), MYO9A (ENSG00000066933), MYO3B (ENSG00000071909), MYH7B (ENSG00000078814), MYO15A (ENSG00000091536), MYO3A (ENSG00000095777), MYO9B (ENSG00000099331), MYH9 (ENSG00000100345), MYH14 (ENSG00000105357), MYH1 (ENSG00000109061), MYH3 (ENSG00000109063), MYH2 (ENSG00000125414), MYO1B (ENSG00000128641), MYO5C (ENSG00000128833), CGNL1 (ENSG00000128849), MYH8 (ENSG00000133020), MYH10 (ENSG00000133026), MYH11 (ENSG00000133392), 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-7 — P12883 (reviewed: P12883)

Alternative names: Myosin heavy chain 7, Myosin heavy chain slow isoform, Myosin heavy chain, cardiac muscle beta isoform

All UniProt accessions (2): P12883, A0AAQ5BGU7

UniProt curated annotations — full annotation on UniProt →

Function. Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction. Forms regular bipolar thick filaments that, together with actin thin filaments, constitute the fundamental contractile unit of skeletal and cardiac muscle.

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). Interacts with ECPAS. Interacts (via C-terminus) with LRRC39.

Subcellular location. Cytoplasm. Myofibril. Sarcomere.

Tissue specificity. Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level).

Disease relevance. Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry. Congenital myopathy 7A, myosin storage, autosomal dominant (CMYO7A) [MIM:608358] A skeletal muscle disorder characterized by prominent axial and proximal weakening, spinal stiffness, severe scoliosis, with or without respiratory and cardiac involvement. The age at symptom onset can range from early childhood to late adulthood, and disease severity ranges from asymptomatic to severe muscular weakness and respiratory insufficiency. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. The disease is caused by variants affecting the gene represented in this entry. Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. Myopathy, distal, 1 (MPD1) [MIM:160500] A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. The disease is caused by variants affecting the gene represented in this entry. Congenital myopathy 7B, myosin storage, autosomal recessive (CMYO7B) [MIM:255160] A skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable. Most patients develop respiratory insufficiency and restrictive lung disease. Some develop hypertrophic cardiomyopathy. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. The disease is caused by variants affecting the gene represented in this entry. Left ventricular non-compaction 5 (LVNC5) [MIM:613426] A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. The disease is caused by variants affecting distinct genetic loci, including 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. Four skip residues (Skip1: Thr-1188, Skip2: Glu-1385, Skip3: Glu-1582 and Skip4: Gly-1807) introduce discontinuities in the coiled-coil heptad repeats. The first three skip residues are structurally comparable and induce a unique local relaxation of the coiled-coil superhelical pitch and the fourth skip residue lies within a highly flexible molecular hinge that is necessary for myosin incorporation in the bare zone of sarcomeres. 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. The cardiac alpha isoform is a ‘fast’ ATPase myosin, while the beta isoform is a ‘slow’ ATPase.

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

RefSeq proteins (2): NP_000248, NP_001393933 (=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
IPR014751	XRCC4-like_C	Homologous_superfamily
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR036961	Kinesin_motor_dom_sf	Homologous_superfamily

Pfam: PF00063, PF01576, PF02736

UniProt features (350 total): sequence variant 219, helix 54, strand 33, sequence conflict 17, modified residue 9, turn 8, domain 3, region of interest 3, chain 1, coiled-coil region 1, compositionally biased region 1, binding site 1

Structure

Experimental structures (PDB)

43 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
5CJ1	X-RAY DIFFRACTION	2.1
6PF2	X-RAY DIFFRACTION	2.17
6PFP	X-RAY DIFFRACTION	2.2
4PA0	X-RAY DIFFRACTION	2.25
5CHX	X-RAY DIFFRACTION	2.3
5CJ0	X-RAY DIFFRACTION	2.3
5WME	X-RAY DIFFRACTION	2.3
4XA4	X-RAY DIFFRACTION	2.33
9HTF	X-RAY DIFFRACTION	2.48
2FXO	X-RAY DIFFRACTION	2.5
5WJ7	X-RAY DIFFRACTION	2.5
4XA3	X-RAY DIFFRACTION	2.55
9HTG	X-RAY DIFFRACTION	2.6
4DB1	X-RAY DIFFRACTION	2.6
9I8P	X-RAY DIFFRACTION	2.6
2FXM	X-RAY DIFFRACTION	2.7
9GZ2	ELECTRON MICROSCOPY	2.9
5WJB	X-RAY DIFFRACTION	2.9
9YP9	ELECTRON MICROSCOPY	3
9YR7	ELECTRON MICROSCOPY	3
8ZI9	ELECTRON MICROSCOPY	3.08
5CJ4	X-RAY DIFFRACTION	3.1
5WLQ	X-RAY DIFFRACTION	3.1
8ZB7	ELECTRON MICROSCOPY	3.19
4P7H	X-RAY DIFFRACTION	3.2
4XA1	X-RAY DIFFRACTION	3.2
9YRG	ELECTRON MICROSCOPY	3.2
8EFH	ELECTRON MICROSCOPY	3.3
8EFI	ELECTRON MICROSCOPY	3.4
9GZ3	ELECTRON MICROSCOPY	3.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12883-F1	74.45	0.10

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 (9): 129, 378, 1137, 1269, 1282, 1308, 1309, 1510, 1513

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 437 (showing top): GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, SWEET_KRAS_ONCOGENIC_SIGNATURE, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOBP_SKELETAL_MUSCLE_ADAPTATION, KEGG_TIGHT_JUNCTION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, MODULE_329, GOBP_SKELETAL_MUSCLE_CONTRACTION, GNF2_MYL3, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, CEBPB_01, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS

GO Biological Process (14): regulation of the force of heart contraction (GO:0002026), regulation of heart rate (GO:0002027), skeletal muscle contraction (GO:0003009), muscle contraction (GO:0006936), striated muscle contraction (GO:0006941), adult heart development (GO:0007512), regulation of the force of skeletal muscle contraction (GO:0014728), transition between fast and slow fiber (GO:0014883), cardiac muscle hypertrophy in response to stress (GO:0014898), muscle filament sliding (GO:0030049), regulation of slow-twitch skeletal muscle fiber contraction (GO:0031449), ATP metabolic process (GO:0046034), ventricular cardiac muscle tissue morphogenesis (GO:0055010), cardiac muscle contraction (GO:0060048)

GO Molecular Function (8): microfilament motor activity (GO:0000146), calmodulin binding (GO:0005516), ATP binding (GO:0005524), 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 (10): stress fiber (GO:0001725), cytoplasm (GO:0005737), muscle myosin complex (GO:0005859), myosin complex (GO:0016459), myosin II complex (GO:0016460), myofibril (GO:0030016), sarcomere (GO:0030017), Z disc (GO:0030018), myosin filament (GO:0032982), supramolecular fiber (GO:0099512)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
regulation of heart contraction	2
regulation of biological quality	2
striated muscle contraction	2
muscle contraction	2
contractile muscle fiber	2
myosin complex	2
musculoskeletal movement	1
muscle system process	1
heart development	1
regulation of skeletal muscle contraction by chemo-mechanical energy conversion	1
regulation of skeletal muscle adaptation	1
muscle hypertrophy in response to stress	1
cardiac muscle hypertrophy	1
cardiac muscle adaptation	1
actin-myosin filament sliding	1
regulation of twitch skeletal muscle contraction	1
slow-twitch skeletal muscle fiber contraction	1
purine ribonucleotide metabolic process	1
purine ribonucleoside triphosphate metabolic process	1
cardiac ventricle morphogenesis	1
ventricular cardiac muscle tissue development	1
cardiac muscle tissue morphogenesis	1
heart contraction	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
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
actomyosin	1
contractile actin filament bundle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

2542 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYH7	MYBPC3	Q14896	976
MYH7	MYL3	P08590	957
MYH7	TNNT2	P45379	957
MYH7	MYL2	P10916	936
MYH7	ACTC1	P04270	935
MYH7	TNNI3	P19429	931
MYH7	TTN	Q8WZ42	919
MYH7	TPM1	P09493	908
MYH7	TCAP	O15273	907
MYH7	NPPA	P01160	834
MYH7	TNNT1	P13805	832
MYH7	ACTN2	P35609	831
MYH7	CSRP3	P50461	831
MYH7	TNNI1	P19237	817
MYH7	LDB3	O75112	805

IntAct

86 interactions, top by confidence:

A	B	Type	Score
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
PRKAG2	PRKAB2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
YWHAZ	HSPB1	psi-mi:“MI:0914”(association)	0.680
POLR2L	POLR3A	psi-mi:“MI:0914”(association)	0.640
MYH7	KXD1	psi-mi:“MI:0915”(physical association)	0.560
KXD1	MYH7	psi-mi:“MI:0915”(physical association)	0.560
MYH7	CLVS2	psi-mi:“MI:0915”(physical association)	0.560
YWHAZ	LMNA	psi-mi:“MI:0914”(association)	0.560
MYH7	MYBPC3	psi-mi:“MI:0915”(physical association)	0.550
MYBPC3	MYH7	psi-mi:“MI:0915”(physical association)	0.550
ECD	SNRNP200	psi-mi:“MI:0914”(association)	0.530
SYT3	PGK2	psi-mi:“MI:0914”(association)	0.530
LIMS1	TYMS	psi-mi:“MI:0914”(association)	0.530
TGS1	SNRNP70	psi-mi:“MI:0914”(association)	0.530
TAF6L	SUPT3H	psi-mi:“MI:0914”(association)	0.530
LRRC39	MYH7	psi-mi:“MI:0915”(physical association)	0.510
ESR2	FBLL1	psi-mi:“MI:0914”(association)	0.460
FAM124B	MYH7	psi-mi:“MI:0915”(physical association)	0.400
MYH7	CHRM5	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (116): KXD1 (Two-hybrid), MYH7 (Affinity Capture-MS), MYH7 (Affinity Capture-MS), MYH7 (Affinity Capture-MS), MYH7 (Affinity Capture-MS), MYH7 (Affinity Capture-MS), ACTN2 (Co-fractionation), ACTN3 (Co-fractionation), MYH7 (Co-fractionation), TPM2 (Co-fractionation), MYH7 (Two-hybrid), AFF1 (Affinity Capture-MS), POLD1 (Affinity Capture-MS), PPP3R1 (Affinity Capture-MS), SPTAN1 (Affinity Capture-MS)

ESM2 similar proteins: A2AQP0, A5PF48, A7E2Y1, F1PT61, F4IUG9, F4JM19, O08638, P02563, P02564, P02566, P02567, P08799, P10568, P11055, P12844, P12845, P12847, P12883, P13533, P13539, P13540, P13541, P24733, P35749, P49824, P79293, P97479, Q02566, Q076A3, Q076A4, Q076A5, Q13402, Q23979, Q29P71, Q29RW1, Q60LV4, Q8MJU9, Q8MJV0, Q8N1T3, Q90339

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

5 interactions.

A	Effect	B	Mechanism
EDN1	“up-regulates quantity by expression”	MYH7	“transcriptional regulation”
NFATC1	“up-regulates quantity by expression”	MYH7	“transcriptional regulation”
MEF2D	“up-regulates quantity by expression”	MYH7	“transcriptional regulation”
MYOD1	“up-regulates quantity by expression”	MYH7	“transcriptional regulation”
LIF	“up-regulates quantity by expression”	MYH7	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

4410 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	80
Likely pathogenic	188
Uncertain significance	2218
Likely benign	1272
Benign	117

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1175039	NM_000257.4(MYH7):c.5754C>G (p.Asn1918Lys)	Pathogenic
132914	NM_000257.4(MYH7):c.2163-1G>A	Pathogenic
132916	NM_000257.4(MYH7):c.2051T>G (p.Met684Arg)	Pathogenic
132917	NM_000257.4(MYH7):c.2028del (p.Asn676fs)	Pathogenic
132920	NM_000257.4(MYH7):c.1956+2T>G	Pathogenic
132926	NM_000257.4(MYH7):c.1530C>A (p.Phe510Leu)	Pathogenic
132930	NM_000257.4(MYH7):c.1151C>A (p.Ser384Tyr)	Pathogenic
132933	NM_000257.4(MYH7):c.1073A>T (p.His358Leu)	Pathogenic
1335139	NM_000257.4(MYH7):c.1277C>T (p.Ala426Val)	Pathogenic
1407730	NM_000257.4(MYH7):c.4048G>A (p.Glu1350Lys)	Pathogenic
14087	NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	Pathogenic
14089	NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	Pathogenic
14090	NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)	Pathogenic
14091	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	Pathogenic
14095	NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)	Pathogenic
14096	nsv513807	Pathogenic
14097	NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)	Pathogenic
14098	NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)	Pathogenic
14099	NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)	Pathogenic
14101	NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)	Pathogenic
14102	NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)	Pathogenic
14103	NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys)	Pathogenic
14104	NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)	Pathogenic
14105	NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)	Pathogenic
14106	NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys)	Pathogenic
14107	NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)	Pathogenic
14108	NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)	Pathogenic
14115	NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro)	Pathogenic
14117	NM_000257.4(MYH7):c.5702A>T (p.His1901Leu)	Pathogenic
14125	NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)	Pathogenic

SpliceAI

4030 predictions. Top by Δscore:

Variant	Effect	Δscore
14:23413754:CCCA:C	donor_loss	1.0000
14:23413755:CCACC:C	donor_loss	1.0000
14:23413756:CACC:C	donor_loss	1.0000
14:23413757:ACC:A	donor_loss	1.0000
14:23413758:CCTT:C	donor_gain	1.0000
14:23413889:TCCTC:T	acceptor_gain	1.0000
14:23413890:CCTCC:C	acceptor_gain	1.0000
14:23413891:CTC:C	acceptor_gain	1.0000
14:23413892:TC:T	acceptor_gain	1.0000
14:23413893:CC:C	acceptor_gain	1.0000
14:23413894:C:CC	acceptor_gain	1.0000
14:23413894:CTGC:C	acceptor_loss	1.0000
14:23413897:C:CT	acceptor_gain	1.0000
14:23413898:G:T	acceptor_gain	1.0000
14:23413903:G:C	acceptor_gain	1.0000
14:23414005:A:AC	donor_gain	1.0000
14:23414005:A:AG	donor_loss	1.0000
14:23414005:ACCG:A	donor_gain	1.0000
14:23414006:C:CC	donor_gain	1.0000
14:23414006:CCG:C	donor_gain	1.0000
14:23414006:CCGC:C	donor_gain	1.0000
14:23414099:CCGT:C	acceptor_gain	1.0000
14:23414100:CGT:C	acceptor_gain	1.0000
14:23414100:CGTC:C	acceptor_gain	1.0000
14:23414103:C:CC	acceptor_gain	1.0000
14:23414111:C:CT	acceptor_gain	1.0000
14:23414111:C:T	acceptor_gain	1.0000
14:23414112:A:T	acceptor_gain	1.0000
14:23414117:G:C	acceptor_gain	1.0000
14:23414117:G:GC	acceptor_gain	1.0000

AlphaMissense

12850 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:23415156:C:G	A1800P	1.000
14:23415164:A:G	L1797P	1.000
14:23415176:A:G	L1793P	1.000
14:23415218:A:G	L1779P	1.000
14:23415248:A:G	L1769P	1.000
14:23417594:A:G	L1421P	1.000
14:23417658:C:G	A1400P	1.000
14:23425375:C:A	R777M	1.000
14:23425964:C:A	R721M	1.000
14:23426004:C:G	G708R	1.000
14:23426011:G:C	C705W	1.000
14:23426012:C:T	C705Y	1.000
14:23426015:A:C	I704S	1.000
14:23426015:A:G	I704T	1.000
14:23426015:A:T	I704N	1.000
14:23426018:C:G	R703P	1.000
14:23426021:A:T	I702N	1.000
14:23426024:C:T	G701D	1.000
14:23426025:C:A	G701C	1.000
14:23426025:C:G	G701R	1.000
14:23426027:T:A	E700V	1.000
14:23426036:C:A	G697V	1.000
14:23426036:C:T	G697D	1.000
14:23426037:C:A	G697C	1.000
14:23426037:C:G	G697R	1.000
14:23426038:A:C	N696K	1.000
14:23426038:A:T	N696K	1.000
14:23426041:G:C	C695W	1.000
14:23426043:A:G	C695R	1.000
14:23426048:A:G	L693P	1.000

dbSNP variants (sampled 300 via entrez): RS1000366070 (14:23424377 C>T), RS1000599334 (14:23435784 TC>T,TCC), RS1000631867 (14:23435882 A>G,T), RS1000653588 (14:23422724 T>C), RS1000681552 (14:23422318 C>T), RS1000688630 (14:23437524 C>T), RS1000812935 (14:23429687 A>G,T), RS1000831021 (14:23428241 A>G), RS1000861930 (14:23416845 C>G), RS1000943925 (14:23412722 G>C,T), RS1001472016 (14:23435110 C>T), RS1001627294 (14:23428319 C>A), RS1001644180 (14:23415566 C>G,T), RS1001734779 (14:23435381 C>G), RS1001789010 (14:23420632 G>C)

Disease associations

OMIM: gene MIM:160760 | disease phenotypes: MIM:160500, MIM:181430, MIM:608358, MIM:192600, MIM:255160, MIM:613426, MIM:604169, MIM:194200, MIM:117000, MIM:609040, MIM:115195, MIM:613424, MIM:115200, MIM:603829, MIM:224700, MIM:115080, MIM:115197

GenCC curated gene-disease

Disease	Classification	Inheritance
MYH7-related skeletal myopathy	Definitive	Autosomal dominant
hypertrophic cardiomyopathy 1	Definitive	Autosomal dominant
dilated cardiomyopathy 1S	Definitive	Autosomal dominant
hypertrophic cardiomyopathy	Definitive	Autosomal dominant
myopathy, myosin storage, autosomal recessive	Strong	Autosomal recessive
myopathy, myosin storage, autosomal dominant	Moderate	Autosomal dominant
familial isolated dilated cardiomyopathy	Supportive	Autosomal dominant
Ebstein anomaly	Supportive	Autosomal dominant
congenital myopathy 7A, myosin storage, autosomal dominant	Supportive	Autosomal dominant
hyaline body myopathy	Supportive	Autosomal dominant
left ventricular noncompaction	Supportive	Autosomal dominant
congenital heart disease	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (5)

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

Disease	Classification	Inheritance
arrhythmogenic right ventricular cardiomyopathy	Limited	AD
hypertrophic cardiomyopathy	Definitive	AD
dilated cardiomyopathy 1S	Definitive	AD
MYH7-related skeletal myopathy	Definitive	AD
congenital heart disease	Limited	AD

Mondo (37): hypertrophic cardiomyopathy (MONDO:0005045), cardiomyopathy (MONDO:0004994), MYH7-related skeletal myopathy (MONDO:0008050), congenital myopathy 7A, myosin storage, autosomal dominant (MONDO:0008409), hypertrophic cardiomyopathy 1 (MONDO:0008647), myopathy, myosin storage, autosomal recessive (MONDO:0009708), congenital fiber-type disproportion myopathy (MONDO:0009711), dilated cardiomyopathy 1S (MONDO:0013262), dilated cardiomyopathy (MONDO:0005021), familial cardiomyopathy (MONDO:0005217), familial hypertrophic cardiomyopathy (MONDO:0024573), left ventricular noncompaction 1 (MONDO:0011403), hyaline body myopathy (MONDO:0018889), left ventricular noncompaction 5 (MONDO:0800351), Wolff-Parkinson-White syndrome (MONDO:0008685)

Orphanet (23): Rare hypertrophic cardiomyopathy (Orphanet:217569), Rare cardiomyopathy (Orphanet:167848), Familial isolated dilated cardiomyopathy (Orphanet:154), Congenital fiber-type disproportion myopathy (Orphanet:2020), OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy (Orphanet:437572), Left ventricular noncompaction (Orphanet:54260), Laing distal myopathy (Orphanet:59135), Autosomal dominant myosin storage myopathy (Orphanet:636965), Autosomal recessive myosin storage myopathy (Orphanet:636970), Dilated cardiomyopathy (Orphanet:217604), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Myosin storage myopathy (Orphanet:53698), Restrictive cardiomyopathy (Orphanet:217632), Idiopathic camptocormia (Orphanet:1320), Congenital myopathy (Orphanet:97245)

HPO phenotypes

151 total (30 of 151 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000303	Mandibular prognathia
HP:0000308	Microretrognathia
HP:0000407	Sensorineural hearing impairment
HP:0000467	Neck muscle weakness
HP:0000961	Cyanosis
HP:0000969	Edema
HP:0001195	Single umbilical artery
HP:0001265	Hyporeflexia
HP:0001288	Gait disturbance
HP:0001290	Generalized hypotonia
HP:0001297	Stroke
HP:0001324	Muscle weakness
HP:0001385	Hip dysplasia
HP:0001430	Abnormal calf musculature morphology
HP:0001508	Failure to thrive
HP:0001620	Abnormally high-pitched voice
HP:0001622	Premature birth
HP:0001631	Atrial septal defect
HP:0001634	Mitral valve prolapse
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001643	Patent ductus arteriosus
HP:0001644	Dilated cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001647	Bicuspid aortic valve
HP:0001653	Mitral regurgitation
HP:0001658	Myocardial infarction

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000731_9	Resting heart rate	3.000000e-08
GCST003818_65	Resting heart rate	2.000000e-100
GCST006061_175	Atrial fibrillation	4.000000e-14
GCST006061_176	Atrial fibrillation	7.000000e-15
GCST006414_19	Atrial fibrillation	4.000000e-10

MeSH disease descriptors (22)

Descriptor	Name	Tree numbers
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
D024741	Cardiomyopathy, Hypertrophic, Familial	C14.280.238.100.500; C14.280.484.048.750.070.160.500; C16.320.160
D002313	Cardiomyopathy, Restrictive	C14.280.238.160
D004437	Ebstein Anomaly	C14.240.400.395; C14.280.400.395; C16.131.240.400.395
D006330	Heart Defects, Congenital	C14.240.400; C14.280.400; C16.131.240.400
D008133	Long QT Syndrome	C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D049288	Muscular Dystrophies, Limb-Girdle	C05.651.534.500.280; C10.668.491.175.500.149; C16.320.577.280
D009205	Myocarditis	C14.280.238.625
D009468	Neuromuscular Diseases	C10.668
D017180	Tachycardia, Ventricular	C14.280.067.845.940; C14.280.123.875.940; C23.550.073.845.940
D014693	Ventricular Fibrillation	C14.280.067.922; C23.550.073.922
D014927	Wolff-Parkinson-White Syndrome	C14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980
C563808	Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 (supp.)
C537968	Camptocormia (supp.)
C563538	Cardiomyopathy, Dilated, 1s (supp.)
C566171	Cardiomyopathy, Familial Hypertrophic, 2 (supp.)
C566169	Cardiomyopathy, Familial Hypertrophic, 4 (supp.)
C564970	Myopathy, Hyaline Body, Autosomal Recessive (supp.)
C567851	Ventricular Fibrillation, Paroxysmal Familial, 1 (supp.)
C536231	familial dilated cardiomyopathy (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3831286 (PROTEIN COMPLEX)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Doxorubicin	affects expression, decreases expression	5
sodium arsenite	affects binding, increases reaction, increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
Daunorubicin	decreases expression	2
Mitoxantrone	decreases expression	2
Cyclosporine	decreases methylation, increases expression	2
MYK-461	decreases expression, decreases reaction, increases expression	1
bisphenol A	increases expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
JP8 aviation fuel	increases expression	1
2,7-dihydroxynaphthalene	decreases expression	1
nickel acetate	affects expression	1
gambierol	increases expression, affects cotreatment	1
incobotulinumtoxinA	decreases expression	1
Sunitinib	decreases expression	1
Bosentan	decreases reaction, increases expression	1
Adenosine Triphosphate	increases abundance	1
Cadmium	affects expression	1
Calcium	increases transport	1
Dexamethasone	increases expression	1
Etoposide	decreases expression	1
Folic Acid	increases expression	1
Ivermectin	decreases expression	1
Methapyrilene	decreases methylation	1
Nifedipine	decreases response to substance	1
Phenylephrine	decreases reaction, increases expression	1
Trichloroethylene	decreases expression	1
Urethane	increases expression	1

Cellosaurus cell lines

29 cell lines: 24 induced pluripotent stem cell, 2 cancer cell line, 2 transformed cell line, 1 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_1591	NCI-H82	Cancer cell line	Male
CVCL_A2VL	GM26130	Transformed cell line	Male
CVCL_A2VS	GM26147	Transformed cell line	Female
CVCL_A4UN	ZZUNEUi020-A	Induced pluripotent stem cell	Female
CVCL_A4ZR	ZZUNEUi016-A	Induced pluripotent stem cell	Female
CVCL_A5RE	ICANi001-A	Induced pluripotent stem cell	Female
CVCL_A5RF	ICANi001-A-1	Induced pluripotent stem cell	Female
CVCL_A7GK	MHHi021-A	Induced pluripotent stem cell	Male
CVCL_A7GL	MHHi021-B	Induced pluripotent stem cell	Male
CVCL_A7KL	SCVIi006-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

373 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
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
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
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