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Aliases for MYH4 Gene

Aliases for MYH4 Gene

  • Myosin Heavy Chain 4 2 3 4 5
  • Myosin, Heavy Polypeptide 4, Skeletal Muscle 2 3
  • Myosin Heavy Chain, Skeletal Muscle, Fetal 3 4
  • Myosin Heavy Chain IIb 3 4
  • Myosin Heavy Chain 2b 3 4
  • MyHC-IIb 3 4
  • MyHC-2B 3 4
  • Myosin, Heavy Chain 4, Skeletal Muscle 3
  • Myosin-4 3
  • MYH2B 3

External Ids for MYH4 Gene

Previous GeneCards Identifiers for MYH4 Gene

  • GC17M010712
  • GC17M011461
  • GC17M010289
  • GC17M010547
  • GC17M010287

Summaries for MYH4 Gene

GeneCards Summary for MYH4 Gene

MYH4 (Myosin Heavy Chain 4) is a Protein Coding gene. Among its related pathways are PAK Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include nucleotide binding and calmodulin binding. An important paralog of this gene is MYH2.

UniProtKB/Swiss-Prot for MYH4 Gene

  • Muscle contraction.

Tocris Summary for MYH4 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 MYH4 Gene

Additional gene information for MYH4 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH4 Gene

Genomics for MYH4 Gene

GeneHancer (GH) Regulatory Elements for MYH4 Gene

Promoters and enhancers for MYH4 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
GH17I010469 Promoter 0.5 EPDnew 550.8 0.0 -20 0.1 MYH4 GC17P010483 MYHAS ENSG00000272736
GH17I010112 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.3 +351.7 351749 9.9 PKNOX1 NEUROD1 SIN3A ZNF121 GLIS2 ELK1 FOS RUNX3 ZNF592 GLIS1 ENSG00000261433 ADPRM MAGOH2P GAS7 MYH4 GC17M010115 GC17P010097
GH17I010446 Enhancer 0.8 ENCODE 11.9 +21.9 21865 1.6 FOXA2 RARA ETS1 CREM MIXL1 CEBPB NFIL3 MIER3 RFX3 RCOR2 MYH4 MYH8 GC17P010459 ENSG00000272736 MYHAS
GH17I010125 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 7 +342.2 342181 4.2 ZFHX2 NFATC1 ZSCAN4 FOS REST ZNF600 MYC ZNF18 GAS7 MYH4 GC17M010130 GC17M010115
GH17I010420 Promoter/Enhancer 0.7 EPDnew ENCODE 11.1 +48.5 48472 2.1 GC17P010421 MYH8 MYH13 MYH4 MYHAS ENSG00000272736
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MYH4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYH4 gene promoter:

Genomic Locations for MYH4 Gene

Genomic Locations for MYH4 Gene
chr17:10,443,290-10,469,559
(GRCh38/hg38)
Size:
26,270 bases
Orientation:
Minus strand
chr17:10,346,607-10,372,876
(GRCh37/hg19)

Genomic View for MYH4 Gene

Genes around MYH4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH4 Gene

Proteins for MYH4 Gene

  • Protein details for MYH4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y623-MYH4_HUMAN
    Recommended name:
    Myosin-4
    Protein Accession:
    Q9Y623

    Protein attributes for MYH4 Gene

    Size:
    1939 amino acids
    Molecular mass:
    223071 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).

neXtProt entry for MYH4 Gene

Post-translational modifications for MYH4 Gene

  • Ubiquitination at Lys1813
  • Modification sites at PhosphoSitePlus

Other Protein References for MYH4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH4 Gene

Domains & Families for MYH4 Gene

Gene Families for MYH4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for MYH4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y623

UniProtKB/Swiss-Prot:

MYH4_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.
  • 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.
  • 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 MYH4: view

Function for MYH4 Gene

Molecular function for MYH4 Gene

GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 4,200kDa,skeletal muscle
UniProtKB/Swiss-Prot Function:
Muscle contraction.

Phenotypes From GWAS Catalog for MYH4 Gene

Gene Ontology (GO) - Molecular Function for MYH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity NAS 10388558
GO:0000166 nucleotide binding IEA --
GO:0003725 double-stranded RNA binding IDA 21266579
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with MYH4: view
genes like me logo Genes that share phenotypes with MYH4: view

Animal Models for MYH4 Gene

MGI Knock Outs for MYH4:

Animal Model Products

CRISPR Products

miRNA for MYH4 Gene

miRTarBase miRNAs that target MYH4

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYH4 Gene

Localization for MYH4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH4 Gene

Cytoplasm, myofibril. Note=Thick filaments of the myofibrils.

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 MYH4 gene
Compartment Confidence
cytoskeleton 5

Gene Ontology (GO) - Cellular Components for MYH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005859 muscle myosin complex NAS 3904738
GO:0016459 myosin complex IEA --
GO:0030016 myofibril IDA 8145163
GO:0030017 sarcomere NAS 3904738
genes like me logo Genes that share ontologies with MYH4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH4 Gene

Pathways & Interactions for MYH4 Gene

genes like me logo Genes that share pathways with MYH4: view

Gene Ontology (GO) - Biological Process for MYH4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IDA 8145163
GO:0030048 actin filament-based movement NAS 10388558
GO:0030049 muscle filament sliding NAS 3904738
GO:0046034 ATP metabolic process NAS 10388558
genes like me logo Genes that share ontologies with MYH4: view

No data available for SIGNOR curated interactions for MYH4 Gene

Drugs & Compounds for MYH4 Gene

(2) Drugs for MYH4 Gene - From: Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(R)-(+)-Blebbistatin Pharma non-muscle myosin II ATPases inhibitor, cell-permeable, Selective inhibitor of myosin II ATPase activity. Inactive enantiomer of (+-)-blebbistatin (Cat. No. 1760) 0
BTS Pharma Selective inhibitor of skeletal muscle myosin II ATPase activity 0

(2) Additional Compounds for MYH4 Gene - From: Tocris

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

(4) Tocris Compounds for MYH4 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
genes like me logo Genes that share compounds with MYH4: view

Transcripts for MYH4 Gene

mRNA/cDNA for MYH4 Gene

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

Unigene Clusters for MYH4 Gene

Myosin, heavy chain 4, skeletal muscle:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYH4 Gene

No ASD Table

Relevant External Links for MYH4 Gene

GeneLoc Exon Structure for
MYH4
ECgene alternative splicing isoforms for
MYH4

Expression for MYH4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYH4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH4 Gene

This gene is overexpressed in Muscle - Skeletal (x41.4) and Liver (x4.3).

Protein differential expression in normal tissues from HIPED for MYH4 Gene

This gene is overexpressed in Esophagus (21.7), Heart (15.6), and Adrenal (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYH4 Gene



NURSA nuclear receptor signaling pathways regulating expression of MYH4 Gene:

MYH4

SOURCE GeneReport for Unigene cluster for MYH4 Gene:

Hs.711141

Evidence on tissue expression from TISSUES for MYH4 Gene

  • Muscle(4.8)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with MYH4: view

Primer Products

No data available for Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH4 Gene

Orthologs for MYH4 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYH4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYH4 34 33
  • 99.23 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 94 (a)
ManyToMany
-- 34
  • 90 (a)
ManyToMany
-- 34
  • 86 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia MYH4 33 34
  • 91.21 (n)
dog
(Canis familiaris)
Mammalia MYH4 33 34
  • 90.91 (n)
rat
(Rattus norvegicus)
Mammalia Myh4 33
  • 89.94 (n)
mouse
(Mus musculus)
Mammalia Myh4 33 16 34
  • 89.72 (n)
chicken
(Gallus gallus)
Aves MYH1E 34
  • 90 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia myh3 33
  • 79.05 (n)
Str.17081 33
zebrafish
(Danio rerio)
Actinopterygii myhb 33
  • 76.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta Mhc 35
  • 50 (a)
Prm 35
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea F58G4.1 35
  • 48 (a)
myo-3 35
  • 47 (a)
F45G2.2 35
  • 45 (a)
Y11D7A.14 35
  • 29 (a)
Species where no ortholog for MYH4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 MYH4 Gene

ENSEMBL:
Gene Tree for MYH4 (if available)
TreeFam:
Gene Tree for MYH4 (if available)

Paralogs for MYH4 Gene

Paralogs for MYH4 Gene

(14) SIMAP similar genes for MYH4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MYH4: view

Variants for MYH4 Gene

Sequence variations from dbSNP and Humsavar for MYH4 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs386352334 uncertain-significance, not provided 10,447,934(-) T/C coding_sequence_variant, missense_variant
rs1000053177 -- 10,457,977(-) T/C intron_variant
rs1000269689 -- 10,466,439(-) G/C intron_variant
rs1000435433 -- 10,444,437(-) T/C intron_variant
rs1000635042 -- 10,454,153(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for MYH4 Gene

Variant ID Type Subtype PubMed ID
dgv5443n54 CNV gain 21841781
esv2673250 CNV deletion 23128226
esv3639936 CNV loss 21293372
nsv1058835 CNV loss 25217958
nsv1060957 CNV gain 25217958
nsv478440 CNV novel sequence insertion 20440878
nsv520771 CNV gain+loss 19592680
nsv574350 CNV gain 21841781
nsv833366 CNV gain 17160897
nsv962256 CNV duplication 23825009
nsv978360 CNV duplication 23825009

Variation tolerance for MYH4 Gene

Residual Variation Intolerance Score: 97.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.01; 93.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYH4 Gene

Human Gene Mutation Database (HGMD)
MYH4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH4 Gene

Disorders for MYH4 Gene

Additional Disease Information for MYH4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for MYH4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MYH4 Gene

Publications for MYH4 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  2. Abundant expression of myosin heavy-chain IIB RNA in a subset of human masseter muscle fibres. (PMID: 11543711) Horton MJ … Sciote JJ (Archives of oral biology 2001) 3 22 58
  3. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. (PMID: 10388558) Weiss A … Leinwand LA (Journal of molecular biology 1999) 3 4 58
  4. Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome. (PMID: 8518795) Soussi-Yanicostas N … Petit C (Human molecular genetics 1993) 2 3 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for MYH4 Gene

Sources for MYH4 Gene

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