Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MYH7 Gene

Aliases for MYH7 Gene

  • Myosin Heavy Chain 7 2 3 4 5
  • Myosin, Heavy Polypeptide 7, Cardiac Muscle, Beta 2 3
  • Myosin Heavy Chain, Cardiac Muscle Beta Isoform 3 4
  • Myosin Heavy Chain Slow Isoform 3 4
  • Myopathy, Distal 1 2 3
  • MyHC-Beta 3 4
  • MYHCB 3 4
  • Myosin, Heavy Chain 7, Cardiac Muscle, Beta 3
  • Cardiac Muscle Myosin Heavy Chain 7 Beta 3
  • Rhabdomyosarcoma Antigen MU-RMS-40.7A 3
  • Myosin Heavy Chain Beta-Subunit 3
  • Myhc-Slow 3
  • MyHC-Slow 4
  • Myosin 7 3
  • Myosin-7 3
  • CMD1S 3
  • SPMD 3
  • SPMM 3
  • CMH1 3
  • MPD1 3

External Ids for MYH7 Gene

Previous HGNC Symbols for MYH7 Gene

  • CMH1
  • MPD1

Previous GeneCards Identifiers for MYH7 Gene

  • GC14M021254
  • GC14M017669
  • GC14M021872
  • GC14M022951
  • GC14M023881
  • GC14M003998

Summaries for MYH7 Gene

Entrez Gene Summary for MYH7 Gene

  • 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 early-onset distal myopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYH7 Gene

MYH7 (Myosin Heavy Chain 7) is a Protein Coding gene. Diseases associated with MYH7 include Myopathy, Distal, 1 and Scapuloperoneal Myopathy, Myh7-Related. Among its related pathways are ERK Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Gene Ontology (GO) annotations related to this gene include actin binding and calmodulin binding. An important paralog of this gene is MYH6.

UniProtKB/Swiss-Prot for MYH7 Gene

  • 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.

Tocris Summary for MYH7 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis (ATPase enzyme activity), actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells, almost all eukaryotic cells are known to contain myosins.

Gene Wiki entry for MYH7 Gene

Additional gene information for MYH7 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH7 Gene

Genomics for MYH7 Gene

GeneHancer (GH) Regulatory Elements for MYH7 Gene

Promoters and enhancers for MYH7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J023433 Promoter/Enhancer 2.1 VISTA EPDnew Ensembl ENCODE dbSUPER 650.7 -1.2 -1207 5.9 PKNOX1 ARID4B ZNF48 ZNF614 SP5 ZNF592 ZNF148 PCBP2 NFIL3 ATF4 MYH7 KHNYN HAUS4 ACIN1 RNA5SP383 RNF31 TINF2 TM9SF1 C14orf93 CIDEB
GH14J023478 Enhancer 0.8 ENCODE 10.6 -42.9 -42919 0.8 ELF3 ARID4B ZSCAN9 RAD21 ZNF143 SMARCC2 ATF7 THAP11 MIXL1 NFKBIZ ZFHX2-AS1 ZFHX2 THTPA AP1G2 MYH7 MIR208B NGDN
GH14J023442 Enhancer 1.3 VISTA FANTOM5 ENCODE dbSUPER 6.5 -7.5 -7535 1.9 ZNF341 IKZF1 PHB2 E4F1 MYH6 MIR208B CMTM5 IL25 SLC22A17 MIR208A MYH7 NGDN
GH14J023410 Enhancer 0.5 FANTOM5 dbSUPER 15.2 +25.5 25546 0.3 ZNF263 MYH6 RBM23 ACIN1 MYH7 RNA5SP383 NGDN ENSG00000259321 LOC102724814 RNF31 PABPN1
GH14J023250 Enhancer 0.6 ENCODE 9.6 +183.7 183697 2.6 SP1 ATF4 NANOG POU5F1 CREB1 CEBPG ATF7 ATF2 HOMEZ BCL2L2 PPP1R3E CMTM5 CEBPE IL25 RNF212B SLC7A8 SLC22A17 MYH6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYH7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYH7 gene promoter:
  • YY1
  • HNF-4alpha2
  • HNF-4alpha1
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for MYH7 Gene

Genomic Locations for MYH7 Gene
chr14:23,412,738-23,435,718
(GRCh38/hg38)
Size:
22,981 bases
Orientation:
Minus strand
chr14:23,881,947-23,904,927
(GRCh37/hg19)
Size:
22,981 bases
Orientation:
Minus strand

Genomic View for MYH7 Gene

Genes around MYH7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH7 Gene

Proteins for MYH7 Gene

  • Protein details for MYH7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12883-MYH7_HUMAN
    Recommended name:
    Myosin-7
    Protein Accession:
    P12883
    Secondary Accessions:
    • A2TDB6
    • B6D424
    • Q14836
    • Q14837
    • Q14904
    • Q16579
    • Q2M1Y6
    • Q92679
    • Q9H1D5
    • Q9UDA2
    • Q9UMM8

    Protein attributes for MYH7 Gene

    Size:
    1935 amino acids
    Molecular mass:
    223097 Da
    Quaternary structure:
    • 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 (PubMed:20682791). Interacts (via C-terminus) with LRRC39 (PubMed:20847312).
    Miscellaneous:
    • The cardiac alpha isoform is a fast ATPase myosin, while the beta isoform is a slow ATPase.

    Three dimensional structures from OCA and Proteopedia for MYH7 Gene

neXtProt entry for MYH7 Gene

Post-translational modifications for MYH7 Gene

  • Ubiquitination at Lys1537, Lys1531, isoforms=213, and isoforms=207
  • Modification sites at PhosphoSitePlus

Other Protein References for MYH7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH7 Gene

Domains & Families for MYH7 Gene

Gene Families for MYH7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P12883

UniProtKB/Swiss-Prot:

MYH7_HUMAN :
  • 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 (PubMed:26150528, PubMed:26573747). 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 (PubMed:26150528).
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
Domain:
  • 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 (PubMed:26150528, PubMed:26573747). 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 (PubMed:26150528).
  • 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).
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH7: view

Function for MYH7 Gene

Molecular function for MYH7 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 7,cardiac muscle,beta

Gene Ontology (GO) - Molecular Function for MYH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity NAS 3021460
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003777 microtubule motor activity IEA --
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with MYH7: view
genes like me logo Genes that share phenotypes with MYH7: view

Human Phenotype Ontology for MYH7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYH7 Gene

MGI Knock Outs for MYH7:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH7

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for MYH7 Gene

Localization for MYH7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH7 Gene

Cytoplasm, myofibril. Cytoplasm, myofibril, sarcomere. Note=Thick filaments of the myofibrils. {ECO:0000250 UniProtKB:P02564}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYH7 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for MYH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001725 stress fiber IEA --
GO:0005737 cytoplasm IEA --
GO:0005859 muscle myosin complex TAS 3021460
GO:0016459 myosin complex TAS 12933792
GO:0030016 myofibril ISS --
genes like me logo Genes that share ontologies with MYH7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH7 Gene

Pathways & Interactions for MYH7 Gene

genes like me logo Genes that share pathways with MYH7: view

Gene Ontology (GO) - Biological Process for MYH7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002026 regulation of the force of heart contraction IDA 15621050
GO:0002027 regulation of heart rate IDA 15621050
GO:0003009 skeletal muscle contraction IMP 7883988
GO:0006936 muscle contraction TAS 15856146
GO:0006941 striated muscle contraction IDA 15621050
genes like me logo Genes that share ontologies with MYH7: view

No data available for SIGNOR curated interactions for MYH7 Gene

Drugs & Compounds for MYH7 Gene

(27) Drugs for MYH7 Gene - From: DrugBank, ApexBio, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 146
4-[4-(2,5-DIOXO-PYRROLIDIN-1-YL)-PHENYLAMINO]-4-HYDROXY-BUTYRIC ACID Experimental Pharma Target 0
Brefeldin A Experimental Pharma Disrupts protein translocation to Golgi 0
Omecamtiv mecarbil Investigational Pharma Cardiac myosin activator 0
(-)-Blebbistatin Pharma Non muscle myosin II ATPase inhibitor 0

(11) Additional Compounds for MYH7 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

(4) Tocris Compounds for MYH7 Gene

Compound Action Cas Number
(+-)-Blebbistatin Selective inhibitor of myosin II ATPase activity 674289-55-5
(R)-(+)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 1177356-70-5
(S)-(-)-Blebbistatin Selective inhibitor of myosin II ATPase activity. Active enantiomer of (+-)-blebbistatin (Cat. No. 1760) 856925-71-8
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity 1576-37-0

(6) ApexBio Compounds for MYH7 Gene

Compound Action Cas Number
(-)-Blebbistatin Non muscle myosin II ATPase inhibitor 856925-71-8
BHQ 88-58-4
Brefeldin A 20350-15-6
Digoxin 20830-75-5
Omecamtiv mecarbil Cardiac myosin activator 873697-71-3
RBC8 361185-42-4
genes like me logo Genes that share compounds with MYH7: view

Drug Products

Transcripts for MYH7 Gene

mRNA/cDNA for MYH7 Gene

(2) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(640) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYH7 Gene

Myosin, heavy chain 7, cardiac muscle, beta:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH7

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYH7 Gene

No ASD Table

Relevant External Links for MYH7 Gene

GeneLoc Exon Structure for
MYH7
ECgene alternative splicing isoforms for
MYH7

Expression for MYH7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYH7 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH7 Gene

This gene is overexpressed in Heart - Left Ventricle (x30.2) and Muscle - Skeletal (x18.9).

Protein differential expression in normal tissues from HIPED for MYH7 Gene

This gene is overexpressed in Heart (41.3), Fetal heart (18.3), and Esophagus (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYH7 Gene



Protein tissue co-expression partners for MYH7 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYH7 Gene:

MYH7

SOURCE GeneReport for Unigene cluster for MYH7 Gene:

Hs.719946

mRNA Expression by UniProt/SwissProt for MYH7 Gene:

P12883-MYH7_HUMAN
Tissue specificity: Both wild type and variant Gln-403 are detected in skeletal muscle (at protein level).

Evidence on tissue expression from TISSUES for MYH7 Gene

  • Muscle(5)
  • Heart(4.8)
  • Lung(2.8)
  • Pancreas(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH7 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • face
  • head
  • larynx
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • diaphragm
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • kidney
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MYH7: view

Orthologs for MYH7 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MYH7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYH7 33
  • 97.06 (n)
oppossum
(Monodelphis domestica)
Mammalia MYH7 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYH7 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH7 34 33
  • 93.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYH7 34 33
  • 93.06 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Myh7 16 34 33
  • 91.97 (n)
rat
(Rattus norvegicus)
Mammalia Myh7 33
  • 91.66 (n)
chicken
(Gallus gallus)
Aves MYH7 34 33
  • 82.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 93 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia myh7 33
  • 77.26 (n)
zebrafish
(Danio rerio)
Actinopterygii CU633479.5 34
  • 86 (a)
ManyToMany
si:ch211-24n20.3 34
  • 86 (a)
ManyToMany
vmhcl 34
  • 86 (a)
ManyToMany
smyhc3 34
  • 86 (a)
ManyToMany
CR450736.2 34
  • 86 (a)
ManyToMany
CU633479.6 34
  • 86 (a)
ManyToMany
vmhc 34
  • 86 (a)
ManyToMany
smyhc2 34
  • 86 (a)
ManyToMany
smyhc1 34
  • 85 (a)
ManyToMany
LOC567740 33
  • 78.05 (n)
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Mhc 35 33
  • 62.83 (n)
Prm 35
  • 35 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010147 33
  • 59.38 (n)
worm
(Caenorhabditis elegans)
Secernentea F58G4.1 35
  • 49 (a)
myo-3 35
  • 48 (a)
F45G2.2 35
  • 45 (a)
Y11D7A.14 35
  • 28 (a)
hcp-2 35
  • 21 (a)
hcp-1 35
  • 20 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR068W 33
  • 48.21 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MYO1 33
  • 48.09 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11595g 33
  • 43.52 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes myo2 33
  • 46.05 (n)
Species where no ortholog for MYH7 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYH7 Gene

ENSEMBL:
Gene Tree for MYH7 (if available)
TreeFam:
Gene Tree for MYH7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYH7: view image

Paralogs for MYH7 Gene

Paralogs for MYH7 Gene

(29) SIMAP similar genes for MYH7 Gene using alignment to 12 proteins:

  • MYH7_HUMAN
  • A5YM51_HUMAN
  • A6N930_HUMAN
  • A6N931_HUMAN
  • A6N933_HUMAN
  • A8CLK2_HUMAN
  • A8CLL2_HUMAN
  • A8CLN2_HUMAN
  • L0L1K4_HUMAN
  • L0L5E6_HUMAN
  • Q14905_HUMAN
  • Q5GJ54_HUMAN
genes like me logo Genes that share paralogs with MYH7: view

Variants for MYH7 Gene

Sequence variations from dbSNP and Humsavar for MYH7 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1002975890 uncertain-significance, Left ventricular noncompaction cardiomyopathy, Myopathy, distal, 1, Myosin storage myopathy, Scapuloperoneal myopathy, Hypertrophic cardiomyopathy, Dilated Cardiomyopathy, Dominant 23,429,351(-) G/A intron_variant
rs1025444130 likely-benign, Hypertrophic cardiomyopathy 23,428,997(-) G/A coding_sequence_variant, synonymous_variant
rs1051971790 likely-benign, Hypertrophic cardiomyopathy 23,416,307(-) G/A coding_sequence_variant, synonymous_variant
rs1057517771 likely-pathogenic, not provided, familial hypertrophic 1 (CMH1) [MIM:192600] 23,432,656(-) T/C coding_sequence_variant, missense_variant
rs1057517772 uncertain-significance, not specified, familial hypertrophic 1 (CMH1) [MIM:192600] 23,431,839(-) G/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for MYH7 Gene

Variant ID Type Subtype PubMed ID
esv2748480 CNV deletion 23290073
esv3584149 CNV gain 25503493
nsv456166 CNV gain 19166990
nsv470623 CNV gain 18288195
nsv564041 CNV gain 21841781
nsv974315 CNV duplication 23825009

Variation tolerance for MYH7 Gene

Residual Variation Intolerance Score: 0.289% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.26; 40.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYH7 Gene

Human Gene Mutation Database (HGMD)
MYH7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH7 Gene

Disorders for MYH7 Gene

MalaCards: The human disease database

(44) MalaCards diseases for MYH7 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

MYH7_HUMAN
  • 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. {ECO:0000269 PubMed:10065021, ECO:0000269 PubMed:10329202, ECO:0000269 PubMed:10521296, ECO:0000269 PubMed:10563488, ECO:0000269 PubMed:10679957, ECO:0000269 PubMed:10862102, ECO:0000269 PubMed:11113006, ECO:0000269 PubMed:11133230, ECO:0000269 PubMed:11214007, ECO:0000269 PubMed:11424919, ECO:0000269 PubMed:11733062, ECO:0000269 PubMed:11861413, ECO:0000269 PubMed:11968089, ECO:0000269 PubMed:12081993, ECO:0000269 PubMed:12566107, ECO:0000269 PubMed:12590187, ECO:0000269 PubMed:12707239, ECO:0000269 PubMed:12818575, ECO:0000269 PubMed:12820698, ECO:0000269 PubMed:12951062, ECO:0000269 PubMed:12974739, ECO:0000269 PubMed:12975413, ECO:0000269 PubMed:1417858, ECO:0000269 PubMed:15358028, ECO:0000269 PubMed:15483641, ECO:0000269 PubMed:1552912, ECO:0000269 PubMed:15563892, ECO:0000269 PubMed:15856146, ECO:0000269 PubMed:15858117, ECO:0000269 PubMed:16199542, ECO:0000269 PubMed:16267253, ECO:0000269 PubMed:1638703, ECO:0000269 PubMed:16650083, ECO:0000269 PubMed:16938236, ECO:0000269 PubMed:17095604, ECO:0000269 PubMed:17372140, ECO:0000269 PubMed:18175163, ECO:0000269 PubMed:18403758, ECO:0000269 PubMed:1975517, ECO:0000269 PubMed:25182012, ECO:0000269 PubMed:7581410, ECO:0000269 PubMed:7731997, ECO:0000269 PubMed:7848441, ECO:0000269 PubMed:7874131, ECO:0000269 PubMed:8250038, ECO:0000269 PubMed:8254035, ECO:0000269 PubMed:8268932, ECO:0000269 PubMed:8282798, ECO:0000269 PubMed:8343162, ECO:0000269 PubMed:8435239, ECO:0000269 PubMed:8483915, ECO:0000269 PubMed:8655135, ECO:0000269 PubMed:8899546, ECO:0000269 PubMed:9544842, ECO:0000269 PubMed:9822100, ECO:0000269 PubMed:9829907}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358]: A rare congenital myopathy characterized by subsarcolemmal hyalinized bodies in type 1 muscle fibers. {ECO:0000269 PubMed:14520662, ECO:0000269 PubMed:15136674, ECO:0000269 PubMed:16684601, ECO:0000269 PubMed:17336526}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430]: Progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. {ECO:0000269 PubMed:17336526}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:11106718, ECO:0000269 PubMed:12379228, ECO:0000269 PubMed:15769782, ECO:0000269 PubMed:18506004, ECO:0000269 PubMed:21127202, ECO:0000269 PubMed:21846512}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:15322983, ECO:0000269 PubMed:17548557}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myosin storage, autosomal recessive (MSMB) [MIM:255160]: An autosomal recessive form of myosin storage myopathy, a muscle disease characterized by subsarcolemmal accumulation of hyalinized bodies in type 1 muscle fibers. MSMB clinical features include muscle weakness, type II respiratory failure and cardiac failure, due to hypertrophic cardiomyopathy. {ECO:0000269 PubMed:25666907}. Note=The disease is caused by mutations 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. {ECO:0000269 PubMed:18506004}. Note=The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Additional Disease Information for MYH7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYH7: view

No data available for Genatlas for MYH7 Gene

Publications for MYH7 Gene

  1. Mutations in sarcomere protein genes in left ventricular noncompaction. (PMID: 18506004) Klaassen S … Thierfelder L (Circulation 2008) 3 4 22 44 58
  2. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PMID: 15563892) Song L … Hui R (Clinica chimica acta; international journal of clinical chemistry 2005) 3 4 22 44 58
  3. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. (PMID: 15769782) Villard E … Komajda M (European heart journal 2005) 3 4 22 44 58
  4. Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy. (PMID: 15856146) Perrot A … Osterziel KJ (Journal of molecular medicine (Berlin, Germany) 2005) 3 4 22 44 58
  5. Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease. (PMID: 15858117) Yu B … Trent RJ (Journal of clinical pathology 2005) 3 4 22 44 58

Products for MYH7 Gene

Sources for MYH7 Gene

Content
Loading form....