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
- MyHC-IIa 3 4
- MYHSA2 3 4
- Myosin, Heavy Chain 2, Skeletal Muscle, Adult 3
- Type IIA Myosin Heavy Chain 3
External Ids for MYH2 Gene
- HGNC: 7572
- Entrez Gene: 4620
- Ensembl: ENSG00000125414
- OMIM: 160740
- UniProtKB: Q9UKX2
Previous HGNC Symbols for MYH2 Gene
- IBM3
Previous GeneCards Identifiers for MYH2 Gene
- GC17M010762
- GC17M011539
- GC17M010367
- GC17M010625
- GC17M010365
- GC17M010368
- GC17M010347
Summaries 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 ERK Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. 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 for MYH2 Gene
-
Muscle contraction. Required for cytoskeleton organization (By similarity).
-
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.
Additional gene information for MYH2 Gene
- Monarch Initiative
- Search for MYH2 at DataMed
- Search for MYH2 at HumanCyc
No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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 ENCODE | 650.7 | +0.5 | 451 | 1.7 | ETS1 | MYH2 MYH1 MYHAS | |
| GH17J010543 | Enhancer | 0.3 | ENCODE | 0.4 | +6.3 | 6338 | 0.2 | ATF2 | MYH2 MYH1 MYHAS | |
| GH17J010556 | Enhancer | 0.3 | ENCODE | 0.4 | -7.1 | -7092 | 2 | NR2F2 | MYH4 MYH2 GC17P010567 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
- Top Transcription factor binding sites by QIAGEN in the MYH2 gene promoter:
-
- GATA-3
- GATA-2
- GATA-1
- c-Myb
- STAT2
Regulatory Element Products
Genomic Locations for MYH2 Gene
Genomic Locations for MYH2 Gene
- chr17:10,521,148-10,549,957
- (GRCh38/hg38)
- Size:
- 28,810 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:
-
- 17p13.1 by Entrez Gene
- 17p13.1 by HGNC
- 17p13.1 by Ensembl
MYH2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for MYH2 Gene
Post-translational modifications for MYH2 Gene
Other Protein References for MYH2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for MYH2
-
Abcam antibodies for MYH2
- Invitrogen Antibodies for MYH2 (AFLGC-MYH2)
- Search GeneTex for Antibodies for MYH2
-
Boster Bio Antibodies for MYH2
-
Santa Cruz Biotechnology (SCBT) Antibodies for MYH2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MYH2
- Origene Custom Protein Services for MYH2
- antibodies-online: Search results for 2 available MYH2 Proteins ranked by validation data
- Compare Top MYH2 Proteins
-
Quality Products:
- Search GeneTex for Proteins for MYH2
-
Abcam proteins for MYH2
Assay Products
No data available for DME Specific Peptides for MYH2 Gene
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
Suggested Antigen Peptide Sequences for MYH2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UKX2UniProtKB/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.
Function for MYH2 Gene
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
| 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:0003777 | microtubule motor activity | IEA | -- |
| GO:0003779 | actin binding | IEA | -- |
Phenotypes for MYH2 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MYH2
-
CRISPR Products
-
OriGene CRISPR knockouts for MYH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYH2
- genomics-online: gRNA clones - Search results for 76 available MYH2 gene related products
- Overview of 76 available MYH2 gene related products
- Applied Biological Materials CRISPR for MYH2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYH2
- GenScript: Design CRISPR guide RNA sequences for MYH2
miRNA for MYH2 Gene
- miRTarBase miRNAs that target MYH2
-
- hsa-mir-23a-3p (MIRT006908)
- hsa-mir-92a-3p (MIRT048977)
- hsa-mir-1273h-3p (MIRT544851)
- hsa-mir-3162-5p (MIRT544852)
- hsa-mir-1258 (MIRT544853)
- hsa-mir-143-5p (MIRT544854)
- hsa-mir-3944-5p (MIRT544855)
- hsa-mir-3175 (MIRT544856)
- hsa-mir-4747-5p (MIRT544857)
- hsa-mir-5196-5p (MIRT544858)
- hsa-mir-3202 (MIRT544859)
- hsa-mir-4771 (MIRT544860)
- hsa-mir-3166 (MIRT544861)
- hsa-mir-3179 (MIRT544862)
- hsa-mir-873-5p (MIRT544863)
- hsa-mir-9500 (MIRT544864)
- hsa-mir-6822-5p (MIRT544865)
- hsa-mir-6750-5p (MIRT544866)
- hsa-mir-5584-5p (MIRT544867)
- hsa-mir-576-3p (MIRT544868)
- hsa-mir-4773 (MIRT544869)
- hsa-mir-494-3p (MIRT733269)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MYH2
- Browse OriGene Inhibitory RNA Products For MYH2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH2
- genomics-online: shRNA clones - Search results for 76 available MYH2 gene related products
- Overview of 76 available MYH2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MYH2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYH2
- Applied Biological Materials Clones for MYH2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for MYH2
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| cytosol | 5 |
| nucleus | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
| GO:0005826 | actomyosin contractile ring | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005859 | muscle myosin complex | TAS | 10388558 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH2 Gene
Pathways & Interactions for MYH2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases | ||
| 2 | PAK Pathway |
.56
|
|
| 3 | Actin Nucleation by ARP-WASP Complex |
.35
|
|
| 4 | RhoGDI Pathway |
.33
|
|
| 5 | Regulation of actin dynamics for phagocytic cup formation | ||
Pathways by source for MYH2 Gene
1 BioSystems pathway for MYH2 Gene
7 Reactome pathways for MYH2 Gene
1 KEGG pathway for MYH2 Gene
6 GeneGo (Thomson Reuters) pathways for MYH2 Gene
Interacting Proteins for MYH2 Gene
GPS-Prot Interaction Network for MYH2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001778 | plasma membrane repair | IEA | -- |
| GO:0006936 | muscle contraction | TAS | 10388558 |
| GO:0007018 | microtubule-based movement | IEA | -- |
| GO:0014823 | response to activity | IEA | -- |
| GO:0030049 | muscle filament sliding | NAS | 3904738 |
No data available for SIGNOR curated interactions for MYH2 Gene
Drugs & Compounds for MYH2 Gene
| 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 |
| 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 |
Drug Products
Transcripts for MYH2 Gene
mRNA/cDNA for MYH2 Gene
- (2) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (360) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000532183 2528 bps (uc060bfv.1)
- ENST00000245503 6339 bps (uc002gmp.5)
- ENST00000578017 572 bps (uc060bfw.1)
- ENST00000420805 675 bps (uc060bfx.1)
- ENST00000397183 6078 bps (uc010coi.4)
Unigene Clusters for MYH2 Gene
- Myosin, heavy chain 2, skeletal muscle, adult:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MYH2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYH2
- genomics-online: gRNA clones - Search results for 76 available MYH2 gene related products
- Overview of 76 available MYH2 gene related products
- Applied Biological Materials CRISPR for MYH2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYH2
- GenScript: Design CRISPR guide RNA sequences for MYH2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MYH2
- Browse OriGene Inhibitory RNA Products For MYH2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYH2
- genomics-online: shRNA clones - Search results for 76 available MYH2 gene related products
- Overview of 76 available MYH2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for MYH2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYH2
- Applied Biological Materials Clones for MYH2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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 | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP13: |
| ExUns: | 21b | ^ | 22 | ^ | 23 | ^ | 24a | · | 24b | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | · | 31c | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| SP11: | |||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||
| SP13: |
Expression for MYH2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Multinuclear Myocytes Hyoid Arch Muscles
- Multinuclear Myocytes Mandibular Arch Muscles
- Skeletal myocytes(Barberi T et. al. 2007)
- Adipose (Muscoskeletal System)
-
Thyroid (Endocrine System)
-
Larynx (Respiratory System)
mRNA differential expression in normal tissues according to GTEx for MYH2 Gene
This gene is overexpressed in Muscle - Skeletal (x51.1).
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
NURSA nuclear receptor signaling pathways regulating expression of MYH2 Gene:
MYH2SOURCE GeneReport for Unigene cluster for MYH2 Gene:
Hs.667534Evidence 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
Primer Products
-
OriGene qPCR primer pairs for MYH2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | MYH2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| cow (Bos Taurus) |
Mammalia | MYH2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MYH2 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Myh2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Myh2 16 34 33 |
|
||
| chicken (Gallus gallus) |
Aves | -- 34 |
|
ManyToMany | |
| MYH1B 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4295 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Mhc 35 |
|
|
|
| Prm 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | F58G4.1 35 |
|
|
|
| myo-3 35 |
|
|
|||
| F45G2.2 35 |
|
|
|||
| Y11D7A.14 35 |
|
|
|||
| hcp-1 35 |
|
|
- 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
Variants for MYH2 Gene
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1028373681 | likely-benign, Inclusion body myopathy 3 | 10,521,358(-) | A/G | coding_sequence_variant, synonymous_variant | |
| rs1042236 | benign, not specified, Inclusion Body Myopathy, Dominant | 10,524,607(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs11078850 | benign, not specified, Inclusion Body Myopathy, Dominant | 10,545,452(-) | A/G/T | coding_sequence_variant, synonymous_variant | |
| rs113190032 | likely-benign, benign, Inclusion Body Myopathy, Dominant, not specified, Inclusion body myopathy 3 | 10,529,714(-) | T/C | coding_sequence_variant, synonymous_variant | |
| rs116419997 | benign, uncertain-significance, Inclusion body myopathy 3, Inclusion Body Myopathy, Dominant | 10,540,007(-) | C/G/T | coding_sequence_variant, synonymous_variant |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH2 Gene
Disorders for MYH2 Gene
(7) MalaCards diseases for MYH2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, proximal, and ophthalmoplegia |
|
|
| inclusion body myositis |
|
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| myopathy |
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| myh-9 related disease |
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| bone fracture |
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Search MYH2 in MalaCards
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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
No data available for Genatlas for MYH2 Gene
Publications for MYH2 Gene
- 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 22 58
- 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 22 58
- 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 22 58
- 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 22 58
- 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 58
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