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Aliases for MYH2 Gene

Aliases for MYH2 Gene

  • Myosin, Heavy Chain 2, Skeletal Muscle, Adult 2 3 5
  • Myosin, Heavy Polypeptide 2, Skeletal Muscle, Adult 2 3
  • Inclusion Body Myopathy 3, Autosomal Dominant 2 3
  • Myosin Heavy Chain, Skeletal Muscle, Adult 2 3 4
  • Myosin Heavy Chain IIa 3 4
  • Myosin Heavy Chain 2a 3 4
  • Myosin Heavy Chain 2 3 4
  • MyHC-IIa 3 4
  • MyHC-2A 3 4
  • MYHSA2 3 4
  • Type IIA Myosin Heavy Chain 3
  • Fast 2a Myosin Heavy Chain 3
  • EC 4.2.1.33 63
  • EC 2.3.2 63
  • MYHas8 3
  • MYH2A 3
  • MYPOP 3
  • IBM3 3

External Ids for MYH2 Gene

Previous HGNC Symbols for MYH2 Gene

  • IBM3

Previous GeneCards Identifiers for MYH2 Gene

  • GC17M010762
  • GC17M011539
  • GC17M010367
  • GC17M010625
  • GC17M010365
  • GC17M010368
  • GC17M010347

Summaries for MYH2 Gene

Entrez Gene Summary for MYH2 Gene

  • Myosins are actin-based motor proteins that function in the generation of mechanical force in eukaryotic cells. Muscle myosins are heterohexamers composed of 2 myosin heavy chains and 2 pairs of nonidentical myosin light chains. This gene encodes a member of the class II or conventional myosin heavy chains, and functions in skeletal muscle contraction. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in inclusion body myopathy-3. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2009]

GeneCards Summary for MYH2 Gene

MYH2 (Myosin, Heavy Chain 2, Skeletal Muscle, Adult) is a Protein Coding gene. Diseases associated with MYH2 include Proximal Myopathy And Ophthalmoplegia and Inclusion Body Myositis. Among its related pathways are Regulation of actin dynamics for phagocytic cup formation and ERK Signaling. GO annotations related to this gene include actin binding and structural constituent of ribosome. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH2 Gene

  • Muscle contraction. Required for cytoskeleton organization (By similarity).

Tocris Summary for MYH2 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 MYH2 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH2 Gene

Genomics for MYH2 Gene

Regulatory Elements for MYH2 Gene

Enhancers for MYH2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MYH2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYH2 Gene

Chromosome:
17
Start:
10,521,148 bp from pter
End:
10,549,957 bp from pter
Size:
28,810 bases
Orientation:
Minus strand

Genomic View for MYH2 Gene

Genes around MYH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH2 Gene

Proteins for MYH2 Gene

  • Protein details for MYH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKX2-MYH2_HUMAN
    Recommended name:
    Myosin-2
    Protein Accession:
    Q9UKX2
    Secondary Accessions:
    • A0AVL4
    • Q14322
    • Q16229
    • Q567P6
    • Q86T56

    Protein attributes for MYH2 Gene

    Size:
    1941 amino acids
    Molecular mass:
    223044 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 GCSAM.

    Alternative splice isoforms for MYH2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYH2 Gene

Proteomics data for MYH2 Gene at MOPED

Selected DME Specific Peptides for MYH2 Gene

Post-translational modifications for MYH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH2 Gene

Domains & Families for MYH2 Gene

Gene Families for MYH2 Gene

Suggested Antigen Peptide Sequences for MYH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UKX2

UniProtKB/Swiss-Prot:

MYH2_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).
  • Contains 1 IQ domain.
  • Contains 1 myosin motor domain.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH2: view

Function for MYH2 Gene

Molecular function for MYH2 Gene

GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 2,skeletal muscle,adult
UniProtKB/Swiss-Prot Function:
Muscle contraction. Required for cytoskeleton organization (By similarity).

Enzyme Numbers (IUBMB) for MYH2 Gene

Gene Ontology (GO) - Molecular Function for MYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity TAS 10388558
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with MYH2: view

Phenotypes for MYH2 Gene

genes like me logo Genes that share phenotypes with MYH2: view

Human Phenotype Ontology for MYH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MYH2 Gene

Localization for MYH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH2 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYH2 Gene COMPARTMENTS Subcellular localization image for MYH2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0030016 myofibril IDA 8145163
genes like me logo Genes that share ontologies with MYH2: view

Pathways & Interactions for MYH2 Gene

genes like me logo Genes that share pathways with MYH2: view

Gene Ontology (GO) - Biological Process for MYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045087 innate immune response TAS --
GO:0061024 membrane organization TAS --
genes like me logo Genes that share ontologies with MYH2: view

No data available for SIGNOR curated interactions for MYH2 Gene

Drugs & Compounds for MYH2 Gene

(1) Drugs for MYH2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for MYH2 Gene - From: Tocris and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(R)-(+)-Blebbistatin
1177356-70-5
(S)-(-)-Blebbistatin
856925-71-8
ML 9 hydrochloride
105637-50-1
W-7 hydrochloride
61714-27-0

(5) Tocris Compounds for MYH2 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
ML 9 hydrochloride Myosin light chain kinase inhibitor 105637-50-1
W-7 hydrochloride Calmodulin antagonist. Inhibits myosin light chain kinase 61714-27-0
genes like me logo Genes that share compounds with MYH2: view

Transcripts for MYH2 Gene

Unigene Clusters for MYH2 Gene

Myosin, heavy chain 2, skeletal muscle, adult:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYH2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6: - -
SP7: -
SP8:
SP9:
SP10: -
SP11:
SP12:
SP13:

ExUns: 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c ^ 32 ^ 33 ^ 34 ^ 35 ^ 36
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for MYH2 Gene

GeneLoc Exon Structure for
MYH2
ECgene alternative splicing isoforms for
MYH2

Expression for MYH2 Gene

mRNA expression in normal human tissues for MYH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH2 Gene

This gene is overexpressed in Muscle - Skeletal (x51.1).

Protein differential expression in normal tissues from HIPED for MYH2 Gene

This gene is overexpressed in Esophagus (51.1) and Liver (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYH2 Gene



SOURCE GeneReport for Unigene cluster for MYH2 Gene Hs.667534

genes like me logo Genes that share expression patterns with MYH2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for MYH2 Gene

Orthologs for MYH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYH2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYH2 35
  • 91.8 (n)
  • 96.75 (a)
MYH2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH2 35
  • 91.37 (n)
  • 97.37 (a)
mouse
(Mus musculus)
Mammalia Myh2 35
  • 89.78 (n)
  • 96.6 (a)
Myh2 16
Myh2 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myh2 35
  • 89.9 (n)
  • 96.91 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 92 (a)
ManyToMany
-- 36
  • 88 (a)
ManyToMany
-- 36
  • 93 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia MYH2 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYH1B 35
  • 83.43 (n)
  • 90.82 (a)
-- 36
  • 91 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4295 35
fruit fly
(Drosophila melanogaster)
Insecta Mhc 37
  • 51 (a)
Prm 37
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea F45G2.2 37
  • 44 (a)
F58G4.1 37
  • 48 (a)
hcp-1 37
  • 20 (a)
myo-3 37
  • 47 (a)
Y11D7A.14 37
  • 29 (a)
Species with no ortholog for MYH2:
  • 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MYH2 Gene

ENSEMBL:
Gene Tree for MYH2 (if available)
TreeFam:
Gene Tree for MYH2 (if available)

Paralogs for MYH2 Gene

Paralogs for MYH2 Gene

genes like me logo Genes that share paralogs with MYH2: view

Variants for MYH2 Gene

Sequence variations from dbSNP and Humsavar for MYH2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_032630 Myopathy, proximal, and ophthalmoplegia (MYPOP)
VAR_032631 -
VAR_032632 -
VAR_032633 -

Structural Variations from Database of Genomic Variants (DGV) for MYH2 Gene

Variant ID Type Subtype PubMed ID
nsv907673 CNV Gain 21882294
nsv520771 CNV Gain+Loss 19592680
nsv907679 CNV Gain 21882294
nsv907681 CNV Loss 21882294

Variation tolerance for MYH2 Gene

Residual Variation Intolerance Score: 9.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.19; 52.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYH2 Gene

Human Gene Mutation Database (HGMD)
MYH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH2 Gene

Disorders for MYH2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for MYH2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
proximal myopathy and ophthalmoplegia
  • inclusion body myopathy 3
inclusion body myositis
  • nonaka myopathy
myopathy
  • muscular diseases
childhood-onset autosomal recessive myopathy with external ophthalmoplegia
ophthalmoplegia
  • oculomotor paralysis
- elite association - COSMIC cancer census association via MalaCards
Search MYH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYH2_HUMAN
  • Myopathy, proximal, and ophthalmoplegia (MYPOP) [MIM:605637]: A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients. Muscle biopsies from patients show predominance of type 1 fibers and small or absent type 2A fibers. The disease is non-progressive or it progresses very slowly. Inheritance is autosomal dominant or recessive. {ECO:0000269 PubMed:11114175}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYH2

Genetic Association Database (GAD)
MYH2
Human Genome Epidemiology (HuGE) Navigator
MYH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYH2
genes like me logo Genes that share disorders with MYH2: view

No data available for Genatlas for MYH2 Gene

Publications for MYH2 Gene

  1. Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle. (PMID: 7545970) Smerdu V. … Schiaffino S. (Am. J. Physiol. 1994) 2 3 4 67
  2. Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. (PMID: 11889243) Tajsharghi H. … Oldfors A. (Neurology 2002) 2 3 23
  3. Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations. (PMID: 20418530) Tajsharghi H. … Udd B. (Brain 2010) 3 23
  4. Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2). (PMID: 15741996) Tajsharghi H. … Oldfors A. (Eur. J. Hum. Genet. 2005) 3 23
  5. Characterization of the metastasis-associated protein, S100A4. Roles of calcium binding and dimerization in cellular localization and interaction with myosin. (PMID: 12756252) Kim E.J. … Helfman D.M. (J. Biol. Chem. 2003) 3 23

Products for MYH2 Gene

Sources for MYH2 Gene

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