MYH2 Gene (Protein Coding)

Myosin Heavy Chain 2

GC17M010521
GIFtS:
46
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 c... See more...

Aliases for MYH2 Gene

Aliases for MYH2 Gene

  • Myosin Heavy Chain 2 2 3 4 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-2 3 4
  • MyHC-IIa 3 4
  • MYHSA2 3 4
  • Myosin, Heavy Chain 2, Skeletal Muscle, Adult 3
  • Type IIA Myosin Heavy Chain 3
  • Fast 2a Myosin Heavy Chain 3
  • EC 4.2.1.33 52
  • EC 2.3.2 52
  • MyHC-2A 3
  • MyHC-2a 4
  • 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
  • GC17M010427

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) is a Protein Coding gene. Diseases associated with MYH2 include Myopathy, Proximal, And Ophthalmoplegia and Inclusion Body Myositis. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Translocation of GLUT4 to the plasma membrane. Gene Ontology (GO) annotations related to this gene include actin binding and structural constituent of ribosome. An important paralog of this gene is MYH1.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for MYH2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYH2 Gene

Genomics for MYH2 Gene

GeneHancer (GH) Regulatory Elements for MYH2 Gene

Promoters and enhancers for MYH2 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
GH17J010548 Promoter/Enhancer 0.8 EPDnew Ensembl ENCODE 500.7 +0.2 226 1.7 ETS1 CHD7 MYH2 RF00017-2284 RF00017-2283 L13304-016 MYHAS
GH17J010551 Enhancer 0.2 Ensembl 500.7 -1.5 -1501 0.4 MYH2 piR-48209-271 RF00017-2283 L13304-016 MYHAS
GH17J010573 Enhancer 0.2 Ensembl 12.5 -23.9 -23901 1.2 MYH2 ENSG00000214970 piR-48209-271 RF00017-2283 L13304-016 MYHAS
GH17J010547 Enhancer 0.5 Ensembl 0.7 +2.2 2199 0.2 FOSL1 FOXP1 FOSL2 MEIS2 JUND ATF3 FOS PKNOX1 CREB1 SPI1 RF00017-2284 MYH2 RF00017-2283 L13304-016 MYHAS
GH17J010543 Enhancer 0.3 ENCODE 0.4 +6.1 6081 0.2 ATF2 CTCF RF00017-2284 MYH2 piR-52916-013 RF00017-2283 L13304-016 MYHAS
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYH2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYH2

Top Transcription factor binding sites by QIAGEN in the MYH2 gene promoter:
  • c-Myb
  • GATA-1
  • GATA-2
  • GATA-3
  • STAT2

Genomic Locations for MYH2 Gene

Genomic Locations for MYH2 Gene
chr17:10,521,148-10,549,700
(GRCh38/hg38)
Size:
28,553 bases
Orientation:
Minus strand
chr17:10,424,465-10,453,274
(GRCh37/hg19)
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 Structure • Gene Density

RefSeq DNA sequence for MYH2 Gene

Proteins for MYH2 Gene

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  • 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

Protein Expression for MYH2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for MYH2 Gene

Q9UKX2:
  • LTKAKIK
  • QAEAEGL

Post-translational modifications for MYH2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MYH2 Gene

Gene Families for MYH2 Gene

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

Protein Domains for MYH2 Gene

Blocks:
  • IQ calmodulin-binding region
  • Myosin tail
  • Myosin N-terminal SH3-like domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MYH2 Gene

GenScript: Design optimal peptide antigens:
  • Myosin heavy chain, skeletal muscle, adult 2 (MYH2_HUMAN)

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).
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

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  1. Animal Model
  2. CRISPR
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  6. Cell Line

Molecular function for MYH2 Gene

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

Enzyme Numbers (IUBMB) for MYH2 Gene

Phenotypes From GWAS Catalog 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:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 17823310
genes like me logo Genes that share ontologies with MYH2: view
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

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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
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 MYH2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex TAS 10388558
GO:0016459 myosin complex IEA --
GO:0030016 myofibril IDA 8145163
genes like me logo Genes that share ontologies with MYH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH2 Gene

Pathways & Interactions for MYH2 Gene

PathCards logo

SuperPathways for MYH2 Gene

SuperPathway Contained pathways
1 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
Cell adhesion Integrin-mediated cell adhesion and migration
.49
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
.49
Development MAG-dependent inhibition of neurite outgrowth
.42
Cell adhesion Tight junctions
.32
2 PAK Pathway
Antioxidant Action of Vitamin-C
.56
PAK Pathway
.56
Epithelial Adherens Junctions
.36
3 Actin Nucleation by ARP-WASP Complex
Actin Nucleation by ARP-WASP Complex
.66
RhoA Pathway
.35
4 RhoGDI Pathway
Fc-GammaR-Mediated Phagocytosis in Macrophages
.33
RhoGDI Pathway
.33
5 Regulation of actin dynamics for phagocytic cup formation
Fcgamma receptor (FCGR) dependent phagocytosis
.74
Regulation of actin dynamics for phagocytic cup formation
.74
genes like me logo Genes that share pathways with MYH2: view

Pathways by source for MYH2 Gene

1 BioSystems pathway for MYH2 Gene
6 GeneGo (Thomson Reuters) pathways for MYH2 Gene
  • Cell adhesion Integrin-mediated cell adhesion and migration
  • Cell adhesion Tight junctions
  • Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases
  • Development MAG-dependent inhibition of neurite outgrowth
  • Immune response CCR3 signaling in eosinophils
11 Qiagen pathways for MYH2 Gene
  • Actin Nucleation by ARP-WASP Complex
  • Antioxidant Action of Vitamin-C
  • Cellular Effects of Sildenafil
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions

SIGNOR curated interactions for MYH2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for MYH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 10388558
GO:0030049 muscle filament sliding NAS 3904738
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
genes like me logo Genes that share ontologies with MYH2: view

Drugs & Compounds for MYH2 Gene

Products:

  1. Drug

(3) Drugs for MYH2 Gene - From: Tocris and Novoseek

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

(3) Additional Compounds for MYH2 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 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
genes like me logo Genes that share compounds with MYH2: view

Transcripts for MYH2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MYH2 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for MYH2 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYH2 Gene

mRNA expression in normal human tissues for MYH2 Gene
mRNA expression by GTEx for MYH2 GenemRNA expression by BioGPS 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 and MOPED for MYH2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYH2

SOURCE GeneReport for Unigene cluster for MYH2 Gene:

Hs.667534

Evidence on tissue expression from TISSUES for MYH2 Gene

  • Muscle(5)
  • Nervous system(4.4)
  • Pancreas(4.1)
  • Lung(4)
  • Liver(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • face
  • head
  • mouth
  • neck
  • skull
Limb:
  • lower limb
  • upper limb
genes like me logo Genes that share expression patterns with MYH2: view

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
 Mammalia MYH2 31
  • 99 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 93 (a)
 ManyToMany
-- 31
  • 92 (a)
 ManyToMany
-- 31
  • 88 (a)
 ManyToMany
cow
(Bos Taurus)
 Mammalia MYH2 31 30
  • 91.8 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MYH2 30
  • 91.37 (n)
rat
(Rattus norvegicus)
 Mammalia Myh2 30
  • 89.9 (n)
mouse
(Mus musculus)
 Mammalia Myh2 17 31 30
  • 89.78 (n)
chicken
(Gallus gallus)
 Aves -- 31
  • 91 (a)
 ManyToMany
MYH1B 30
  • 83.43 (n)
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.4295 30
fruit fly
(Drosophila melanogaster)
 Insecta Mhc 32
  • 51 (a)
Prm 32
  • 35 (a)
worm
(Caenorhabditis elegans)
 Secernentea F58G4.1 32
  • 48 (a)
myo-3 32
  • 47 (a)
F45G2.2 32
  • 44 (a)
Y11D7A.14 32
  • 29 (a)
hcp-1 32
  • 20 (a)
Species where no ortholog for MYH2 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)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYH2: view image

Paralogs for MYH2 Gene

Paralogs for MYH2 Gene

(38) SIMAP similar genes for MYH2 Gene using alignment to 4 proteins:

  • MYH2_HUMAN
  • E7EX84_HUMAN
  • J3QLR0_HUMAN
  • Q567P6_HUMAN
genes like me logo Genes that share paralogs with MYH2: view

Variants for MYH2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYH2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
636251 Likely Pathogenic: Inclusion body myopathy 3 10,523,089(-) C/G SPLICE_DONOR_VARIANT
639121 Uncertain Significance: Inclusion body myopathy 3 10,527,765(-) C/T MISSENSE_VARIANT
639223 Uncertain Significance: Inclusion body myopathy 3 10,526,683(-) G/A MISSENSE_VARIANT
639473 Uncertain Significance: Inclusion body myopathy 3 10,529,152(-) A/AGTCTTACTTGCAA INTRON_VARIANT
639702 Uncertain Significance: Inclusion body myopathy 3 10,523,590(-) T/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MYH2 Gene

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

Variant ID Type Subtype PubMed ID
nsv1057945 CNV loss 25217958
nsv1058835 CNV loss 25217958
nsv520771 CNV gain+loss 19592680
nsv960409 CNV duplication 23825009
nsv960410 CNV duplication 23825009
nsv962257 CNV duplication 23825009

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)

Additional Variant Information for MYH2 Gene

Human Gene Mutation Database (HGMD)
MYH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH2

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYH2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for MYH2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myopathy, proximal, and ophthalmoplegia
  • mypop
inclusion body myositis
  • ibm
myopathy
  • muscular diseases
aspiration pneumonia
  • aspiration pneumonitis
myh-9 related disease
  • sebastian syndrome
- 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.

Additional Disease Information for MYH2

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 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 (European journal of human genetics : EJHG 2005) 3 4 23 54
  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 54
  3. Autosomal dominant myopathy: missense mutation (Glu-706 --> Lys) in the myosin heavy chain IIa gene. (PMID: 11114175) Martinsson T … Wahlstrom J (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 23 54
  4. 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 23 54
  5. Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle. (PMID: 7545970) Smerdu V … Schiaffino S (The American journal of physiology 1994) 2 3 4 54

ExternalLinks

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