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Aliases for MYH2 Gene

Aliases for MYH2 Gene

  • Myosin, Heavy Chain 2, Skeletal Muscle, Adult 2 3
  • 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
  • Myosin-2 3
  • 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 inclusion body myopathy-3 and inclusion body myositis. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include actin binding and structural constituent of muscle. 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, actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name), almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II. Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by intracellular Ca2+ concentrations.

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

Genomic Location for MYH2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Antibody Products

Domains for MYH2 Gene

Gene Families for MYH2 Gene

HGNC:
  • MYHII :Myosins / Myosin superfamily : Class II

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 :
  • Q9UKX2
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
  • Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further 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:0003735 structural constituent of ribosome --
GO:0003774 motor activity --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 17823310
genes like me logo Genes that share ontologies with MYH2: view

Animal Model Products

miRNA for MYH2 Gene

miRTarBase miRNAs that target MYH2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYH2

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting 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 4
nucleus 4
golgi apparatus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005794 Golgi apparatus IEA --
GO:0005826 actomyosin contractile ring IEA --
GO:0005829 cytosol TAS --
GO:0005840 ribosome --
genes like me logo Genes that share ontologies with MYH2: view

Pathways for MYH2 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for MYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 plasma membrane repair IEA --
GO:0006412 translation --
GO:0006936 muscle contraction TAS 10388558
GO:0008152 metabolic process TAS 10388558
GO:0014823 response to activity IEA --
genes like me logo Genes that share ontologies with MYH2: view

Compounds for MYH2 Gene

(4) 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]
BTS Selective inhibitor of skeletal muscle myosin II ATPase activity [1576-37-0]

(2) Novoseek inferred chemical compound relationships for MYH2 Gene

Compound -log(P) Hits PubMed IDs
actomyosin 70.4 1
calcium 0 6
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYH2

Primer Products

Flow Cytometry Products

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 (51.1).

Protein differential expression in normal tissues for MYH2 Gene

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

Integrated Proteomics: protein expression 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 expressions with MYH2: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and 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 MAF
VAR_032630 Inclusion body myopathy 3 (IBM3)
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

Relevant External Links for MYH2 Gene

HapMap Linkage Disequilibrium report
MYH2
Human Gene Mutation Database (HGMD)
MYH2

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

Disorders for MYH2 Gene

(1) OMIM Diseases for MYH2 Gene (160740)

UniProtKB/Swiss-Prot

MYH2_HUMAN
  • Inclusion body myopathy 3 (IBM3) [MIM:605637]: Hereditary inclusion body myopathies constitute a group of neuromuscular disorders characterized by slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM3 is a variant of hereditary inclusion body myopathies and is characterized by autosomal dominant myopathy with joint contracture, ophthalmoplegia and rimmed vacuoles. Morphological analysis of muscle biopsies from patients indicate that the type 2A fibers frequently were abnormal, whereas other fiber types appeared normal. {ECO:0000269 PubMed:11114175}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MYH2 Gene

(3) Novoseek inferred disease relationships for MYH2 Gene

Disease -log(P) Hits PubMed IDs
inclusion body myopathy 70.6 1
myopathy 54.4 4
atrophy 36.6 1

Relevant External Links for MYH2

Genetic Association Database (GAD)
MYH2
Human Genome Epidemiology (HuGE) Navigator
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. 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 4 23
  2. Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. (PMID: 11114175) Martinsson T. … Wahlstroem J. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 23
  3. 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
  4. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. (PMID: 10388558) Weiss A. … Leinwand L.A. (J. Mol. Biol. 1999) 3 4 23
  5. 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

Products for MYH2 Gene

Sources for MYH2 Gene

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