Details for: MYH7

Gene ID: 4625

Symbol: MYH7

Ensembl ID: ENSG00000092054

Description: myosin heavy chain 7

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ventricular cardiac muscle cell (CL2000046)
    Fold Change: 20.3861
    Cell Significance Index: 90.2400
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 9.5715
    Cell Significance Index: 27.4300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 9.2195
    Cell Significance Index: 224.9500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 6.0468
    Cell Significance Index: 464.0300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 4.7455
    Cell Significance Index: 70.0600
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 4.0656
    Cell Significance Index: 50.2900
  • Cell Name: secondary lymphoid organ macrophage (CL0000867)
    Fold Change: 3.0364
    Cell Significance Index: 22.2900
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 2.2249
    Cell Significance Index: 32.0000
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.9728
    Cell Significance Index: 13.9700
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 0.4217
    Cell Significance Index: 6.8100
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 0.2865
    Cell Significance Index: 2.2900
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.1832
    Cell Significance Index: 2.7400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1697
    Cell Significance Index: 2.4300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.1486
    Cell Significance Index: 3.8200
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: 0.0789
    Cell Significance Index: 1.0200
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.0686
    Cell Significance Index: 1.0000
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.0036
    Cell Significance Index: 0.0400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0032
    Cell Significance Index: 0.5400
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0021
    Cell Significance Index: -3.8500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0025
    Cell Significance Index: -4.7400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0025
    Cell Significance Index: -3.9200
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.0029
    Cell Significance Index: -0.0300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0029
    Cell Significance Index: -3.9200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0062
    Cell Significance Index: -4.5800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0064
    Cell Significance Index: -2.3000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0072
    Cell Significance Index: -5.2900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: -0.0074
    Cell Significance Index: -1.4100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.0074
    Cell Significance Index: -1.2100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0077
    Cell Significance Index: -4.8800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0083
    Cell Significance Index: -4.6700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0089
    Cell Significance Index: -1.7900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0093
    Cell Significance Index: -4.2300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0096
    Cell Significance Index: -5.2200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0121
    Cell Significance Index: -3.4900
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0155
    Cell Significance Index: -0.9300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0159
    Cell Significance Index: -0.4000
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0218
    Cell Significance Index: -0.2700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0219
    Cell Significance Index: -4.3500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0232
    Cell Significance Index: -4.9000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0275
    Cell Significance Index: -4.9500
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0315
    Cell Significance Index: -1.5900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0330
    Cell Significance Index: -4.8000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0341
    Cell Significance Index: -3.9100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0384
    Cell Significance Index: -1.0700
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.0386
    Cell Significance Index: -0.5000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0399
    Cell Significance Index: -4.9100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0424
    Cell Significance Index: -1.7400
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0438
    Cell Significance Index: -1.0600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0448
    Cell Significance Index: -3.0100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0491
    Cell Significance Index: -3.4000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0503
    Cell Significance Index: -1.4500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0563
    Cell Significance Index: -0.3800
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: -0.0564
    Cell Significance Index: -0.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0569
    Cell Significance Index: -5.9200
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0570
    Cell Significance Index: -0.6500
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0576
    Cell Significance Index: -0.8200
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: -0.0577
    Cell Significance Index: -0.6600
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0594
    Cell Significance Index: -1.2700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0601
    Cell Significance Index: -1.6100
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0618
    Cell Significance Index: -0.9800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0658
    Cell Significance Index: -2.9100
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.0685
    Cell Significance Index: -0.9600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0724
    Cell Significance Index: -4.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0770
    Cell Significance Index: -3.5900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0776
    Cell Significance Index: -2.9400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0781
    Cell Significance Index: -4.8000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0791
    Cell Significance Index: -4.8500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0850
    Cell Significance Index: -5.3600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0878
    Cell Significance Index: -3.9800
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -0.0920
    Cell Significance Index: -0.8900
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.0927
    Cell Significance Index: -1.1000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0987
    Cell Significance Index: -5.1800
  • Cell Name: muscle cell (CL0000187)
    Fold Change: -0.0993
    Cell Significance Index: -0.9500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1009
    Cell Significance Index: -5.2400
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.1059
    Cell Significance Index: -1.3900
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.1060
    Cell Significance Index: -3.8900
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.1165
    Cell Significance Index: -2.9100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1180
    Cell Significance Index: -2.9500
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: -0.1191
    Cell Significance Index: -1.5600
  • Cell Name: thymocyte (CL0000893)
    Fold Change: -0.1211
    Cell Significance Index: -1.5300
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.1214
    Cell Significance Index: -1.8300
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1305
    Cell Significance Index: -2.6200
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.1309
    Cell Significance Index: -4.1400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1341
    Cell Significance Index: -2.2600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1349
    Cell Significance Index: -4.7300
  • Cell Name: tendon cell (CL0000388)
    Fold Change: -0.1390
    Cell Significance Index: -1.8900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1395
    Cell Significance Index: -2.9200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1403
    Cell Significance Index: -4.8800
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: -0.1436
    Cell Significance Index: -0.6300
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.1446
    Cell Significance Index: -1.9500
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.1519
    Cell Significance Index: -1.6700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1552
    Cell Significance Index: -5.0800
  • Cell Name: basal-myoepithelial cell of mammary gland (CL0002324)
    Fold Change: -0.1566
    Cell Significance Index: -1.1600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1576
    Cell Significance Index: -5.0200
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.1577
    Cell Significance Index: -2.0200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1631
    Cell Significance Index: -5.7300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1639
    Cell Significance Index: -3.5500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1719
    Cell Significance Index: -5.0600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1747
    Cell Significance Index: -3.4100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The MYH7 gene is a cardiac-specific gene, primarily expressed in ventricular cardiac myocytes, fibroblasts of cardiac tissue, and other cardiac-derived cells. It is a member of the MYH family, which encodes for the heavy chains of myosin. The MYH7 gene is highly conserved across species, with high sequence identity to its murine and bovine counterparts. This conservation underscores the gene's essential role in muscle function and development. **Pathways and Functions:** The MYH7 gene is involved in several key pathways, including: 1. **Actin filament binding**: MYH7 interacts with actin filaments, regulating the assembly and disassembly of the myosin complex. 2. **Cardiac muscle contraction**: MYH7 plays a crucial role in the contraction and relaxation of cardiac muscle cells, influencing heart rate and cardiac output. 3. **Muscle contraction**: MYH7 is essential for the contraction of skeletal muscle fibers, regulating the force of muscle contraction. 4. **Myofibril organization**: MYH7 contributes to the organization and structure of myofibrils, the contractile units of muscle cells. 5. **Regulation of heart rate**: MYH7 is involved in the regulation of heart rate, influencing the contraction and relaxation of cardiac muscle cells. **Clinical Significance:** Dysregulation of the MYH7 gene has been implicated in various cardiac and skeletal muscle disorders, including: 1. **Hypertrophic cardiomyopathy (HCM)**: Mutations in the MYH7 gene are a common cause of HCM, a condition characterized by thickened cardiac muscle and impaired cardiac function. 2. **Skeletal muscle disorders**: MYH7 mutations have been linked to skeletal muscle disorders, such as hypertrophic cardiomyopathy and limb-girdle muscular dystrophy. 3. **Arrhythmias**: MYH7 mutations can disrupt cardiac rhythm, leading to arrhythmias and other cardiac complications. In conclusion, the MYH7 gene plays a critical role in regulating cardiac and skeletal muscle function. Its dysregulation can lead to various cardiac and skeletal muscle disorders, highlighting the importance of this gene in human health and disease. Further research is needed to fully elucidate the mechanisms underlying MYH7-related disorders and to develop effective therapeutic strategies. **Significantly Expressed Cells:** The MYH7 gene is expressed in various cell types, including: 1. Lymphocytes 2. Regular ventricular cardiac myocytes 3. Fibroblasts of cardiac tissue 4. Cardiac muscle cells 5. Fetal cardiomyocytes 6. Plasma cells 7. Colon goblet cells 8. Cardiac neurons 9. Enterocytes of the epithelium of the large intestine 10. Mural cells **Proteins:** The MYH7 gene encodes for the Myosin-7 protein, which is a member of the MYH family. This protein is a crucial component of the myosin complex, regulating muscle contraction and relaxation. In summary, the MYH7 gene is a critical regulator of cardiac and skeletal muscle function, and its dysregulation can lead to various cardiac and skeletal muscle disorders. Further research is needed to fully elucidate the mechanisms underlying MYH7-related disorders and to develop effective therapeutic strategies.

Genular Protein ID: 689382074

Symbol: MYH7_HUMAN

Name: Myosin-7

UniProtKB Accession Codes:

P12883 A2TDB6 B6D424 Q14836 Q14837 Q14904 Q16579 Q2M1Y6 Q92679 Q9H1D5 Q9UDA2 Q9UMM8

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 CarbonylDB 1 ChEBI 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EMBL 26 EMDB 7 Ensembl 1 EvolutionaryTrace 1 GO 28 Gene3D 9 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 12 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PDB 29 PDBsum 29 PIR 1 PRINTS 1 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 2 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2249844

Title: The complete sequence of the human beta-myosin heavy chain gene and a comparative analysis of its product.

PubMed ID: 2249844

DOI: 10.1016/0888-7543(90)90272-v

PubMed ID: 2362820

Title: Complete sequence and organization of the human cardiac beta-myosin heavy chain gene.

PubMed ID: 2362820

DOI: 10.1093/nar/18.12.3647

PubMed ID: 10996847

Title: The human beta-myosin heavy chain gene: sequence diversity and functional characteristics of the protein.

PubMed ID: 10996847

DOI: 10.1002/1097-4644(20001215)79:4<566::aid-jcb50>3.3.co;2-5

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 2726733

Title: Characterization of human cardiac myosin heavy chain genes.

PubMed ID: 2726733

DOI: 10.1073/pnas.86.10.3504

PubMed ID: 8514894

Title: Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.

PubMed ID: 8514894

DOI: 10.1172/jci116530

PubMed ID: 2522082

Title: Isolation and characterization of the complete human beta-myosin heavy chain gene.

PubMed ID: 2522082

DOI: 10.1007/bf00278991

PubMed ID: 3021460

Title: Partial characterization of the human beta-myosin heavy-chain gene which is expressed in heart and skeletal muscle.

PubMed ID: 3021460

DOI: 10.1111/j.1432-1033.1986.tb09989.x

PubMed ID: 1691980

Title: Identification of three developmentally controlled isoforms of human myosin heavy chains.

PubMed ID: 1691980

DOI: 10.1111/j.1432-1033.1990.tb15459.x

PubMed ID: 2421254

Title: Characterization of diverse forms of myosin heavy chain expressed in adult human skeletal muscle.

PubMed ID: 2421254

DOI: 10.1093/nar/14.7.2951

PubMed ID: 3032769

Title: Construction of a human ventricular cDNA library and characterization of a beta myosin heavy chain cDNA clone.

PubMed ID: 3032769

DOI: 10.1007/bf00283049

PubMed ID: 2969919

Title: Molecular cloning and characterization of human cardiac alpha- and beta-form myosin heavy chain complementary DNA clones. Regulation of expression during development and pressure overload in human atrium.

PubMed ID: 2969919

DOI: 10.1172/jci113627

PubMed ID: 3037493

Title: Human cardiac myosin heavy chain genes and their linkage in the genome.

PubMed ID: 3037493

DOI: 10.1093/nar/15.13.5443

PubMed ID: 7909436

Title: Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy.

PubMed ID: 7909436

DOI: 10.1006/bbrc.1994.1483

PubMed ID: 8533830

Title: Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.

PubMed ID: 8533830

DOI: 10.1002/ajmg.1320580314

PubMed ID: 16267253

Title: Gene mutations in apical hypertrophic cardiomyopathy.

PubMed ID: 16267253

DOI: 10.1161/circulationaha.105.547448

PubMed ID: 16684601

Title: Novel slow-skeletal myosin (MYH7) mutation in the original myosin storage myopathy kindred.

PubMed ID: 16684601

DOI: 10.1016/j.nmd.2006.03.011

PubMed ID: 18506004

Title: Mutations in sarcomere protein genes in left ventricular noncompaction.

PubMed ID: 18506004

DOI: 10.1161/circulationaha.107.746164

PubMed ID: 18175163

Title: Familial hypertrophic cardiomyopathy associated with cardiac beta-myosin heavy chain and troponin I mutations.

PubMed ID: 18175163

DOI: 10.1007/s00246-007-9177-9

PubMed ID: 20847312

Title: Myomasp/LRRC39, a heart- and muscle-specific protein, is a novel component of the sarcomeric M-band and is involved in stretch sensing.

PubMed ID: 20847312

DOI: 10.1161/circresaha.110.222372

PubMed ID: 20682791

Title: A protein interaction network for Ecm29 links the 26 S proteasome to molecular motors and endosomal components.

PubMed ID: 20682791

DOI: 10.1074/jbc.m110.154120

PubMed ID: 21127202

Title: Mutations in the sarcomere gene MYH7 in Ebstein anomaly.

PubMed ID: 21127202

DOI: 10.1161/circgenetics.110.957985

PubMed ID: 25666907

Title: Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: scapuloperoneal and respiratory weakness with dilated cardiomyopathy.

PubMed ID: 25666907

DOI: 10.1016/j.nmd.2015.01.007

PubMed ID: 17095604

Title: Crystal structures of human cardiac beta-myosin II S2-Delta provide insight into the functional role of the S2 subfragment.

PubMed ID: 17095604

DOI: 10.1073/pnas.0606741103

PubMed ID: 26246073

Title: Structural basis for drug-induced allosteric changes to human beta-cardiac myosin motor activity.

PubMed ID: 26246073

DOI: 10.1038/ncomms8974

PubMed ID: 26150528

Title: Skip residues modulate the structural properties of the myosin rod and guide thick filament assembly.

PubMed ID: 26150528

DOI: 10.1073/pnas.1505813112

PubMed ID: 26573747

Title: A composite approach towards a complete model of the myosin rod.

PubMed ID: 26573747

DOI: 10.1002/prot.24964

PubMed ID: 1975517

Title: A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.

PubMed ID: 1975517

DOI: 10.1016/0092-8674(90)90274-i

PubMed ID: 1417858

Title: Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.

PubMed ID: 1417858

DOI: 10.1016/0006-291x(92)92396-f

PubMed ID: 1638703

Title: Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu-->Val mutation and a 403Arg-->Gln mutation.

PubMed ID: 1638703

DOI: 10.1161/01.cir.86.2.345

PubMed ID: 1552912

Title: Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

PubMed ID: 1552912

DOI: 10.1056/nejm199204233261703

PubMed ID: 8250038

Title: Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.

PubMed ID: 8250038

PubMed ID: 8343162

Title: A missense mutation of cardiac beta-myosin heavy chain gene linked to familial hypertrophic cardiomyopathy in affected Japanese families.

PubMed ID: 8343162

DOI: 10.1006/bbrc.1993.1891

PubMed ID: 8435239

Title: Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.

PubMed ID: 8435239

DOI: 10.1136/hrt.69.2.136

PubMed ID: 8268932

Title: Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

PubMed ID: 8268932

DOI: 10.1093/hmg/2.10.1731

PubMed ID: 8254035

Title: Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.

PubMed ID: 8254035

DOI: 10.1172/jci116900

PubMed ID: 8483915

Title: Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

PubMed ID: 8483915

DOI: 10.1073/pnas.90.9.3993

PubMed ID: 7848441

Title: A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

PubMed ID: 7848441

DOI: 10.1093/hmg/3.6.1025

PubMed ID: 7874131

Title: Isolation of a de novo mutant myocardial beta MHC protein in a pedigree with hypertrophic cardiomyopathy.

PubMed ID: 7874131

PubMed ID: 8282798

Title: Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

PubMed ID: 8282798

DOI: 10.1172/jci116957

PubMed ID: 7581410

Title: Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

PubMed ID: 7581410

DOI: 10.1002/humu.1380060219

PubMed ID: 7731997

Title: Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

PubMed ID: 7731997

DOI: 10.1073/pnas.92.9.3864

PubMed ID: 8655135

Title: Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.

PubMed ID: 8655135

DOI: 10.1007/bf02281865

PubMed ID: 8899546

Title: Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy.

PubMed ID: 8899546

DOI: 10.1006/jmcc.1996.0180

PubMed ID: 10065021

Title: Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

PubMed ID: 10065021

DOI: 10.1136/hrt.80.6.548

PubMed ID: 9544842

Title: A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.

PubMed ID: 9544842

DOI: 10.1007/s004390050695

PubMed ID: 9829907

Title: Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

PubMed ID: 9829907

DOI: 10.1002/(sici)1098-1004(1998)12:6<385::aid-humu4>3.0.co;2-e

PubMed ID: 9822100

Title: The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.

PubMed ID: 9822100

DOI: 10.1016/s0735-1097(98)00448-3

PubMed ID: 10521296

Title: The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

PubMed ID: 10521296

DOI: 10.1086/302623

PubMed ID: 10563488

Title: Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene.

PubMed ID: 10563488

DOI: 10.1034/j.1399-0004.1999.560313.x

PubMed ID: 10329202

Title: Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.

PubMed ID: 10329202

DOI: 10.1006/jmcc.1998.0911

PubMed ID: 10679957

Title: A novel missense mutation (R712L) adjacent to the 'active thiol' region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family.

PubMed ID: 10679957

DOI: 10.1002/(sici)1098-1004(200003)15:3<298::aid-humu22>3.0.co;2-7

PubMed ID: 10862102

Title: Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.

PubMed ID: 10862102

DOI: 10.1002/1098-1004(200006)15:6<584::aid-humu25>3.0.co;2-r

PubMed ID: 11113006

Title: Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.

PubMed ID: 11113006

DOI: 10.1006/jmcc.2000.1260

PubMed ID: 11106718

Title: Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PubMed ID: 11106718

DOI: 10.1056/nejm200012073432304

PubMed ID: 11214007

Title: A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy.

PubMed ID: 11214007

DOI: 10.1080/140174300750064477

PubMed ID: 11733062

Title: The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation.

PubMed ID: 11733062

DOI: 10.1016/s0092-8674(01)00586-4

PubMed ID: 11424919

Title: Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.

PubMed ID: 11424919

DOI: 10.1136/jmg.38.6.385

PubMed ID: 11133230

Title: Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.

PubMed ID: 11133230

DOI: 10.1006/jmcc.2000.1287

PubMed ID: 12379228

Title: Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

PubMed ID: 12379228

DOI: 10.1016/s0006-291x(02)02374-4

PubMed ID: 12081993

Title: Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.

PubMed ID: 12081993

DOI: 10.1161/01.cir.0000019070.70491.6d

PubMed ID: 11861413

Title: Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.

PubMed ID: 11861413

DOI: 10.1161/hh0302.104532

PubMed ID: 11968089

Title: Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.

PubMed ID: 11968089

DOI: 10.1002/humu.10074

PubMed ID: 14520662

Title: Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

PubMed ID: 14520662

DOI: 10.1002/ana.10693

PubMed ID: 12951062

Title: Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.

PubMed ID: 12951062

DOI: 10.1016/j.bbrc.2003.08.014

PubMed ID: 12566107

Title: Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.

PubMed ID: 12566107

DOI: 10.1016/s0008-6363(02)00711-3

PubMed ID: 12707239

Title: Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PubMed ID: 12707239

DOI: 10.1161/01.cir.0000066323.15244.54

PubMed ID: 12974739

Title: Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PubMed ID: 12974739

DOI: 10.1034/j.1399-0004.2003.00151.x

PubMed ID: 12820698

Title: Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.

PubMed ID: 12820698

DOI: 10.1089/109065703321560895

PubMed ID: 12975413

Title: Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

PubMed ID: 12975413

DOI: 10.1136/heart.89.10.1179

PubMed ID: 12590187

Title: Three novel mutations in exon 21 encoding beta-cardiac myosin heavy chain.

PubMed ID: 12590187

PubMed ID: 12818575

Title: Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PubMed ID: 12818575

DOI: 10.1016/s0022-2828(03)00146-9

PubMed ID: 15322983

Title: Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause Laing early-onset distal myopathy (MPD1).

PubMed ID: 15322983

DOI: 10.1086/424760

PubMed ID: 15358028

Title: Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PubMed ID: 15358028

DOI: 10.1016/j.jacc.2004.04.039

PubMed ID: 15136674

Title: Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.

PubMed ID: 15136674

DOI: 10.1212/01.wnl.0000123255.92062.37

PubMed ID: 15563892

Title: Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PubMed ID: 15563892

DOI: 10.1016/j.cccn.2004.09.016

PubMed ID: 15769782

Title: Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

PubMed ID: 15769782

DOI: 10.1093/eurheartj/ehi193

PubMed ID: 15483641

Title: One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in MYH7 rod region.

PubMed ID: 15483641

DOI: 10.1038/sj.ejhg.5201310

PubMed ID: 15858117

Title: Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

PubMed ID: 15858117

DOI: 10.1136/jcp.2004.021642

PubMed ID: 16199542

Title: Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PubMed ID: 16199542

DOI: 10.1136/jmg.2005.033886

PubMed ID: 15856146

Title: Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

PubMed ID: 15856146

DOI: 10.1007/s00109-005-0635-7

PubMed ID: 16650083

Title: Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.

PubMed ID: 16650083

DOI: 10.1111/j.1399-0004.2006.00599.x

PubMed ID: 16938236

Title: Hypertrophic cardiomyopathy: infrequent mutation of the cardiac beta-myosin heavy-chain gene.

PubMed ID: 16938236

DOI: 10.1157/13091891

PubMed ID: 17372140

Title: Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.

PubMed ID: 17372140

DOI: 10.1212/01.wnl.0000257131.13438.2c

PubMed ID: 17548557

Title: New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

PubMed ID: 17548557

DOI: 10.1212/01.wnl.0000264430.55233.72

PubMed ID: 17336526

Title: MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

PubMed ID: 17336526

DOI: 10.1016/j.nmd.2007.01.010

PubMed ID: 18403758

Title: Shared genetic causes of cardiac hypertrophy in children and adults.

PubMed ID: 18403758

DOI: 10.1056/nejmoa075463

PubMed ID: 21846512

Title: Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PubMed ID: 21846512

DOI: 10.1016/j.ejmg.2011.07.005

PubMed ID: 25182012

Title: Hypertrophic cardiomyopathy: a new mutation illustrates the need for family-centered care.

PubMed ID: 25182012

DOI: 10.1007/s00246-014-1002-7

Sequence Information:

  • Length: 1935
  • Mass: 223097
  • Checksum: C58B22F914215718
  • Sequence:
    • MGDSEMAVFG AAAPYLRKSE KERLEAQTRP FDLKKDVFVP DDKQEFVKAK IVSREGGKVT 
AETEYGKTVT VKEDQVMQQN PPKFDKIEDM AMLTFLHEPA VLYNLKDRYG SWMIYTYSGL 
FCVTVNPYKW LPVYTPEVVA AYRGKKRSEA PPHIFSISDN AYQYMLTDRE NQSILITGES 
GAGKTVNTKR VIQYFAVIAA IGDRSKKDQS PGKGTLEDQI IQANPALEAF GNAKTVRNDN 
SSRFGKFIRI HFGATGKLAS ADIETYLLEK SRVIFQLKAE RDYHIFYQIL SNKKPELLDM 
LLITNNPYDY AFISQGETTV ASIDDAEELM ATDNAFDVLG FTSEEKNSMY KLTGAIMHFG 
NMKFKLKQRE EQAEPDGTEE ADKSAYLMGL NSADLLKGLC HPRVKVGNEY VTKGQNVQQV 
IYATGALAKA VYERMFNWMV TRINATLETK QPRQYFIGVL DIAGFEIFDF NSFEQLCINF 
TNEKLQQFFN HHMFVLEQEE YKKEGIEWTF IDFGMDLQAC IDLIEKPMGI MSILEEECMF 
PKATDMTFKA KLFDNHLGKS ANFQKPRNIK GKPEAHFSLI HYAGIVDYNI IGWLQKNKDP 
LNETVVGLYQ KSSLKLLSTL FANYAGADAP IEKGKGKAKK GSSFQTVSAL HRENLNKLMT 
NLRSTHPHFV RCIIPNETKS PGVMDNPLVM HQLRCNGVLE GIRICRKGFP NRILYGDFRQ 
RYRILNPAAI PEGQFIDSRK GAEKLLSSLD IDHNQYKFGH TKVFFKAGLL GLLEEMRDER 
LSRIITRIQA QSRGVLARME YKKLLERRDS LLVIQWNIRA FMGVKNWPWM KLYFKIKPLL 
KSAEREKEMA SMKEEFTRLK EALEKSEARR KELEEKMVSL LQEKNDLQLQ VQAEQDNLAD 
AEERCDQLIK NKIQLEAKVK EMNERLEDEE EMNAELTAKK RKLEDECSEL KRDIDDLELT 
LAKVEKEKHA TENKVKNLTE EMAGLDEIIA KLTKEKKALQ EAHQQALDDL QAEEDKVNTL 
TKAKVKLEQQ VDDLEGSLEQ EKKVRMDLER AKRKLEGDLK LTQESIMDLE NDKQQLDERL 
KKKDFELNAL NARIEDEQAL GSQLQKKLKE LQARIEELEE ELEAERTARA KVEKLRSDLS 
RELEEISERL EEAGGATSVQ IEMNKKREAE FQKMRRDLEE ATLQHEATAA ALRKKHADSV 
AELGEQIDNL QRVKQKLEKE KSEFKLELDD VTSNMEQIIK AKANLEKMCR TLEDQMNEHR 
SKAEETQRSV NDLTSQRAKL QTENGELSRQ LDEKEALISQ LTRGKLTYTQ QLEDLKRQLE 
EEVKAKNALA HALQSARHDC DLLREQYEEE TEAKAELQRV LSKANSEVAQ WRTKYETDAI 
QRTEELEEAK KKLAQRLQEA EEAVEAVNAK CSSLEKTKHR LQNEIEDLMV DVERSNAAAA 
ALDKKQRNFD KILAEWKQKY EESQSELESS QKEARSLSTE LFKLKNAYEE SLEHLETFKR 
ENKNLQEEIS DLTEQLGSSG KTIHELEKVR KQLEAEKMEL QSALEEAEAS LEHEEGKILR 
AQLEFNQIKA EIERKLAEKD EEMEQAKRNH LRVVDSLQTS LDAETRSRNE ALRVKKKMEG 
DLNEMEIQLS HANRMAAEAQ KQVKSLQSLL KDTQIQLDDA VRANDDLKEN IAIVERRNNL 
LQAELEELRA VVEQTERSRK LAEQELIETS ERVQLLHSQN TSLINQKKKM DADLSQLQTE 
VEEAVQECRN AEEKAKKAIT DAAMMAEELK KEQDTSAHLE RMKKNMEQTI KDLQHRLDEA 
EQIALKGGKK QLQKLEARVR ELENELEAEQ KRNAESVKGM RKSERRIKEL TYQTEEDRKN 
LLRLQDLVDK LQLKVKAYKR QAEEAEEQAN TNLSKFRKVQ HELDEAEERA DIAESQVNKL 
RAKSRDIGTK GLNEE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.