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Aliases for MYH3 Gene

Aliases for MYH3 Gene

  • Myosin Heavy Chain 3 2 3 4 5
  • Myosin, Heavy Polypeptide 3, Skeletal Muscle, Embryonic 2 3
  • Myosin Heavy Chain, Fast Skeletal Muscle, Embryonic 3 4
  • Myosin, Skeletal, Heavy Chain, Embryonic 1 2 3
  • SMHCE 3 4
  • Myosin, Heavy Chain 3, Skeletal Muscle, Embryonic 3
  • Muscle Embryonic Myosin Heavy Chain 3 2
  • Muscle Embryonic Myosin Heavy Chain 4
  • MYHC-EMB 3
  • Myosin-3 3
  • 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) is a Protein Coding gene. Diseases associated with MYH3 include Arthrogryposis, Distal, Type 2A and Arthrogryposis, Distal, Type 8. Among its related pathways are Vesicle-mediated transport and Tight junction. GO annotations related to this gene include calmodulin binding and motor activity. An important paralog of this gene is MYH2.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F010620 1 Ensembl ENCODE 11.5 +55.4 55351 6.8 NRF1 ZFP64 CEBPB CEBPG ZNF644 RARA CEBPA SCRT2 MYH3 DHRS7C GC17M010631 ENSG00000214970
GH17F010612 1.1 Ensembl ENCODE 11.2 +65.2 65217 2.3 CTCF ZNF654 CEBPB ZBTB8A FEZF1 REST EP300 RAD21 FOSL1 ZBTB48 MYH3 GC17M010631 ENSG00000214970
GH17F010618 1.2 Ensembl ENCODE 11.2 +60.6 60598 0.7 CTCF ZNF654 CEBPB ZNF2 RAD21 TEAD3 CBX1 SCRT2 SMC3 ZNF143 MYH3 ENSG00000263508 GC17M010631 ENSG00000214970
GH17F010616 0.6 ENCODE 11.2 +62.3 62332 0.2 CTCF ZNF654 TRIM22 REST ZNF2 RAD21 JUND ZNF143 SMC3 KDM1A MYH3 GC17M010631 ENSG00000214970
GH17F010745 1.2 Ensembl ENCODE 10.9 -66.1 -66124 1.8 SOX13 ATF1 HHEX GATA4 ZNF512 TCF7 CREB1 NR2F6 CREM PRDM1 ADPRM SCO1 MYH3 ENSG00000264016 TMEM220-AS1 ENSG00000240813 TMEM220
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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

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:0000146 microfilament motor activity NAS 1691980
GO:0000166 nucleotide binding IEA --
GO:0003774 motor activity IEA --
GO:0003779 actin binding IEA --
GO:0005516 calmodulin binding IEA,NAS 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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex NAS 16642020
GO:0016459 myosin complex IEA --
GO:0030016 myofibril IEA --
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

Gene Ontology (GO) - Biological Process for MYH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 16642020
GO:0006470 protein dephosphorylation IEA --
GO:0007517 muscle organ development TAS 2771643
GO:0030048 actin filament-based movement NAS 1691980
GO:0030049 muscle filament sliding TAS --
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

(2) Drugs for MYH3 Gene - From: Tocris

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

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(+-)-Blebbistatin
674289-55-5
(S)-(-)-Blebbistatin
856925-71-8

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of MYH3 Gene:

MYH3

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
chimpanzee
(Pan troglodytes)
Mammalia MYH3 34 35
  • 99.19 (n)
cow
(Bos Taurus)
Mammalia MYHC-EMBRYONIC 35
  • 98 (a)
OneToOne
MYH3 34
  • 90.67 (n)
dog
(Canis familiaris)
Mammalia MYH3 34 35
  • 91.56 (n)
rat
(Rattus norvegicus)
Mammalia Myh3 34
  • 90.22 (n)
mouse
(Mus musculus)
Mammalia Myh3 34 16 35
  • 89.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 85 (a)
ManyToMany
-- 35
  • 82 (a)
ManyToMany
-- 35
  • 78 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves MYH1C 35
  • 84 (a)
ManyToMany
MYH1B 35
  • 83 (a)
ManyToMany
-- 35
  • 82 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 83 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100495065 34
  • 76.74 (n)
Str.12038 34
fruit fly
(Drosophila melanogaster)
Insecta Mhc 36
  • 51 (a)
Prm 36
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea F58G4.1 36
  • 49 (a)
myo-3 36
  • 47 (a)
F45G2.2 36
  • 42 (a)
Y11D7A.14 36
  • 28 (a)
C02F12.7 36
  • 21 (a)
hcp-1 36
  • 21 (a)
hcp-2 36
  • 19 (a)
Species where no ortholog for MYH3 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)
  • 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
rs121913617 Arthrogryposis, distal, 2A (DA2A) [MIM:193700], Pathogenic 10,641,317(-) TGTGC(A/G)TTGTA reference, missense
rs121913618 Arthrogryposis, distal, 2A (DA2A) [MIM:193700], Pathogenic 10,641,318(-) TTGTG(C/T)GTTGT reference, missense
rs121913619 Arthrogryposis, distal, 2B (DA2B) [MIM:601680], Arthrogryposis, distal, 2A (DA2A) [MIM:193700], Pathogenic 10,650,374(-) GATCA(C/T)GTAAG reference, missense
rs121913620 Arthrogryposis, distal, 2A (DA2A) [MIM:193700], Pathogenic 10,640,204(-) GAACG(A/T)CAAGC reference, missense
rs121913621 Arthrogryposis, distal, 2B (DA2B) [MIM:601680], Pathogenic 10,645,725(-) AGGCC(A/C/G)AGCCG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MYH3 Gene

Variant ID Type Subtype PubMed ID
nsv1058835 CNV loss 25217958
nsv1065819 CNV gain 25217958
nsv960411 CNV duplication 23825009
nsv960412 CNV duplication 23825009

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH3 Gene

Disorders for MYH3 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
arthrogryposis, distal, type 2a
  • distal arthrogryposis
arthrogryposis, distal, type 2b
  • arthrogryposis multiplex congenita, distal, type 2b
arthrogryposis, distal, type 8
  • autosomal dominant multiple pterygium syndrome
arthrogryposis, distal, type 5
  • distal arthrogryposis type 5
arthrogryposis multiplex congenita, distal, type 1
  • arthrogryposis multiplex congenita
- 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 64
  2. 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 4 64
  3. Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot. (PMID: 20357587) Shyy W. … Morcuende J.A. (J Pediatr Orthop 2010) 3 46 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. (PMID: 19142688) Gurnett C.A. … Dobbs M.B. (Clin. Orthop. Relat. Res. 2009) 3 46 64

Products for MYH3 Gene

Sources for MYH3 Gene

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