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Aliases for MYH3 Gene

Aliases for MYH3 Gene

  • Myosin, Heavy Chain 3, Skeletal Muscle, Embryonic 2 3 5
  • Myosin, Heavy Polypeptide 3, Skeletal Muscle, Embryonic 2 3
  • Myosin Heavy Chain, Fast Skeletal Muscle, Embryonic 3 4
  • SMHCE 3 4
  • Myosin, Skeletal, Heavy Chain, Embryonic 1 3
  • Muscle Embryonic Myosin Heavy Chain 3 2
  • Muscle Embryonic Myosin Heavy Chain 4
  • Myosin Heavy Chain 3 4
  • Heavy Chain 2
  • Embryonic 1 2
  • Skeletal 2
  • MYHC-EMB 3
  • Myosin 2
  • MYHSE1 3
  • HEMHC 3
  • DA2A 3
  • DA2B 3
  • DA8 3

External Ids for MYH3 Gene

Previous GeneCards Identifiers for MYH3 Gene

  • GC17M010897
  • GC17M011646
  • GC17M010474
  • GC17M010732
  • GC17M010472

Summaries for MYH3 Gene

Entrez Gene Summary for MYH3 Gene

  • Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. Mutations in this gene have been associated with two congenital contracture (arthrogryposis) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYH3 Gene

MYH3 (Myosin, Heavy Chain 3, Skeletal Muscle, Embryonic) is a Protein Coding gene. Diseases associated with MYH3 include Arthrogryposis, Distal, Type 8 and Arthrogryposis, Distal, Type 2A. Among its related pathways are ERK Signaling and Translocation of GLUT4 to the plasma membrane. GO annotations related to this gene include calmodulin binding and motor activity. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH3 Gene

  • Muscle contraction.

Tocris Summary for MYH3 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 MYH3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH3 Gene

Genomics for MYH3 Gene

Regulatory Elements for MYH3 Gene

Enhancers for MYH3 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 MYH3 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYH3 Gene

Chromosome:
17
Start:
10,628,526 bp from pter
End:
10,679,030 bp from pter
Size:
50,505 bases
Orientation:
Minus strand

Genomic View for MYH3 Gene

Genes around MYH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH3 Gene

Proteins for MYH3 Gene

  • Protein details for MYH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11055-MYH3_HUMAN
    Recommended name:
    Myosin-3
    Protein Accession:
    P11055
    Secondary Accessions:
    • Q15492

    Protein attributes for MYH3 Gene

    Size:
    1940 amino acids
    Molecular mass:
    223905 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 MYH3 Gene

Proteomics data for MYH3 Gene at MOPED

Post-translational modifications for MYH3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MYH3 Gene

Domains & Families for MYH3 Gene

Gene Families for MYH3 Gene

Suggested Antigen Peptide Sequences for MYH3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11055

UniProtKB/Swiss-Prot:

MYH3_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 MYH3: view

Function for MYH3 Gene

Molecular function for MYH3 Gene

GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 3,200kDa,skeletal muscle,embryonic
UniProtKB/Swiss-Prot Function:
Muscle contraction.

Gene Ontology (GO) - Molecular Function for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003774 motor activity IEA --
GO:0051015 actin filament binding IMP 16642020
genes like me logo Genes that share ontologies with MYH3: view
genes like me logo Genes that share phenotypes with MYH3: view

Human Phenotype Ontology for MYH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MYH3 Gene

Localization for MYH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH3 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYH3 Gene COMPARTMENTS Subcellular localization image for MYH3 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043292 contractile fiber IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with MYH3: view

Pathways & Interactions for MYH3 Gene

genes like me logo Genes that share pathways with MYH3: view

Interacting Proteins for MYH3 Gene

Selected Interacting proteins: P11055-MYH3_HUMAN for MYH3 Gene via MINT I2D

Gene Ontology (GO) - Biological Process for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 16642020
GO:0045214 sarcomere organization NAS 16642020
GO:0046034 ATP metabolic process IMP 16642020
GO:0060325 face morphogenesis IC 16642020
genes like me logo Genes that share ontologies with MYH3: view

No data available for SIGNOR curated interactions for MYH3 Gene

Drugs & Compounds for MYH3 Gene

(5) Additional Compounds for MYH3 Gene - From: Tocris

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 MYH3 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 MYH3: view

Transcripts for MYH3 Gene

Unigene Clusters for MYH3 Gene

Myosin, heavy chain 3, skeletal muscle, embryonic:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYH3 Gene

No ASD Table

Relevant External Links for MYH3 Gene

GeneLoc Exon Structure for
MYH3
ECgene alternative splicing isoforms for
MYH3

Expression for MYH3 Gene

mRNA expression in normal human tissues for MYH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH3 Gene

This gene is overexpressed in Muscle - Skeletal (x10.0).

Protein differential expression in normal tissues from HIPED for MYH3 Gene

This gene is overexpressed in Fetal heart (34.4), Fetal Liver (14.5), Heart (11.1), and Esophagus (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for MYH3 Gene



SOURCE GeneReport for Unigene cluster for MYH3 Gene Hs.440895

mRNA Expression by UniProt/SwissProt for MYH3 Gene

P11055-MYH3_HUMAN
Tissue specificity: Expressed in fetal bone, thymus, placenta, heart, brain, and liver.
genes like me logo Genes that share expression patterns with MYH3: view

Primer Products

No data available for Protein tissue co-expression partners for MYH3 Gene

Orthologs for MYH3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYH3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYH3 35
  • 90.67 (n)
  • 98.04 (a)
MYHC-EMBRYONIC 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH3 35
  • 91.56 (n)
  • 98.7 (a)
MYH3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myh3 35
  • 89.67 (n)
  • 98.2 (a)
Myh3 16
Myh3 36
  • 98 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYH3 35
  • 99.19 (n)
  • 99.46 (a)
MYH3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myh3 35
  • 90.22 (n)
  • 98.25 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 84 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 82 (a)
ManyToMany
-- 36
  • 78 (a)
ManyToMany
-- 36
  • 85 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 82 (a)
ManyToMany
MYH1B 36
  • 83 (a)
ManyToMany
MYH1C 36
  • 84 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 83 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495065 35
  • 76.74 (n)
  • 84.58 (a)
Str.12038 35
fruit fly
(Drosophila melanogaster)
Insecta Mhc 37
  • 51 (a)
Prm 37
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea C02F12.7 37
  • 21 (a)
F45G2.2 37
  • 42 (a)
F58G4.1 37
  • 49 (a)
hcp-1 37
  • 21 (a)
hcp-2 37
  • 19 (a)
myo-3 37
  • 47 (a)
Y11D7A.14 37
  • 28 (a)
Species with no ortholog for MYH3:
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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)
  • zebrafish (Danio rerio)

Evolution for MYH3 Gene

ENSEMBL:
Gene Tree for MYH3 (if available)
TreeFam:
Gene Tree for MYH3 (if available)

Paralogs for MYH3 Gene

Paralogs for MYH3 Gene

genes like me logo Genes that share paralogs with MYH3: view

Variants for MYH3 Gene

Sequence variations from dbSNP and Humsavar for MYH3 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs12941197 - 10,638,363(+) GCTGC(A/G)CTGTT reference, missense
rs2285477 - 10,638,198(-) TGGCC(A/G)CGCTG reference, missense
VAR_030370 Arthrogryposis, distal, 2A (DA2A)
VAR_030370 Arthrogryposis, distal, 2B (DA2B)
VAR_030371 Arthrogryposis, distal, 2B (DA2B)

Variation tolerance for MYH3 Gene

Residual Variation Intolerance Score: 1.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.97; 68.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYH3 Gene

Human Gene Mutation Database (HGMD)
MYH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MYH3 Gene

Disorders for MYH3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for MYH3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 8
  • autosomal dominant multiple pterygium syndrome
arthrogryposis, distal, type 2a
  • da2a
arthrogryposis, distal, type 2b
  • arthrogryposis multiplex congenita, distal, type 2b
arthrogryposis multiplex congenita, distal, type 1
  • arthrogryposis multiplex congenita
nemaline myopathy 4, autosomal dominant
  • cap myopathy 2
- elite association - COSMIC cancer census association via MalaCards
Search MYH3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYH3_HUMAN
  • Arthrogryposis, distal, 2A (DA2A) [MIM:193700]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2A is characterized by contractures of the hands and feet, oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice, puckered lips, and an H-shaped dimple of the chin. {ECO:0000269 PubMed:16642020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arthrogryposis, distal, 2B (DA2B) [MIM:601680]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. DA2B is characterized by contractures of the hands and feet, and a distinctive face characterized by prominent nasolabial folds, small mouth and downslanting palpebral fissures. {ECO:0000269 PubMed:16642020}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arthrogryposis, distal, 8 (DA8) [MIM:178110]: A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. {ECO:0000269 PubMed:25957469}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYH3

Genetic Association Database (GAD)
MYH3
Human Genome Epidemiology (HuGE) Navigator
MYH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYH3
genes like me logo Genes that share disorders with MYH3: view

No data available for Genatlas for MYH3 Gene

Publications for MYH3 Gene

  1. Nucleotide sequence of full length human embryonic myosin heavy chain cDNA. (PMID: 2726495) Eller M.S. … Sarkar S. (Nucleic Acids Res. 1989) 2 3 4 67
  2. Skeletal muscle heavy-chain polypeptide 3 and myosin binding protein H in the pubococcygeus muscle in patients with and without pelvic organ prolapse. (PMID: 16579921) Hundley A.F. … Visco A.G. (Am. J. Obstet. Gynecol. 2006) 3 23
  3. The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. (PMID: 25740846) Racca A.W. … Regnier M. (Hum. Mol. Genet. 2015) 3
  4. Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3. (PMID: 25957469) Chong J.X. … Bamshad M.J. (Am. J. Hum. Genet. 2015) 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for MYH3 Gene

Sources for MYH3 Gene

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