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Aliases for MYH13 Gene

Aliases for MYH13 Gene

  • Myosin Heavy Chain 13 2 3 4 5
  • Myosin Heavy Chain, Skeletal Muscle, Extraocular 3 4
  • Myosin Heavy Chain, Skeletal Muscle, Laryngeal 3 4
  • Myosin, Heavy Polypeptide 13, Skeletal Muscle 2 3
  • Extraocular Muscle Myosin Heavy Chain 2 3
  • Extraocular Myosin Heavy Chain 2 3
  • Superfast Myosin 3 4
  • MyHC-IIL 3 4
  • MyHC-Eo 3 4
  • Myosin, Heavy Chain 13, Skeletal Muscle 3
  • Myosin-13 3

External Ids for MYH13 Gene

Previous GeneCards Identifiers for MYH13 Gene

  • GC17M010570
  • GC17M011319
  • GC17M010147
  • GC17M010404
  • GC17M010144

Summaries for MYH13 Gene

GeneCards Summary for MYH13 Gene

MYH13 (Myosin Heavy Chain 13) is a Protein Coding gene. Diseases associated with MYH13 include Tongue Disease and Ankyloglossia. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Actin Nucleation by ARP-WASP Complex. GO annotations related to this gene include actin binding and motor activity. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH13 Gene

  • Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles.

Tocris Summary for MYH13 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 MYH13 Gene

Additional gene information for MYH13 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH13 Gene

Genomics for MYH13 Gene

Regulatory Elements for MYH13 Gene

Enhancers for MYH13 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
GH17H010291 0.8 Ensembl ENCODE 11.4 +80.8 80804 1 FOSL1 KLF1 JUND IKZF1 JUNB BATF SPI1 MYH13 ENSG00000273388 PIR47100
GH17H009899 0.8 Ensembl ENCODE 10.2 +472.1 472128 2 STAT1 CREB1 ATF2 NR2F2 MYH13 RCVRN GC17P009878
GH17H010327 0.7 ENCODE 11.6 +45.4 45372 0 CTCF ZNF654 ZFP64 TRIM22 CEBPB MAX REST RAD21 ZNF585B SCRT2 MYH13 ENSG00000271851 ENSG00000264067 GC17P010345
GH17H010295 0.7 ENCODE 11.1 +77.2 77192 0 CTCF ZNF654 HLF CEBPB MAX CEBPG REST RAD21 CEBPA ZNF143 MYH13 ENSG00000273388 PIR47100
GH17H010317 0.8 FANTOM5 7.7 +55.7 55672 0 CTCF STAT1 L3MBTL2 MNT RAD21 GATA3 ELK1 GATA2 ZNF143 ETV6 MYH13 MYH4 GAS7 ENSG00000264067 PIR47100
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYH13 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYH13 Gene

Chromosome:
17
Start:
10,300,865 bp from pter
End:
10,373,130 bp from pter
Size:
72,266 bases
Orientation:
Minus strand

Genomic View for MYH13 Gene

Genes around MYH13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH13 Gene

Proteins for MYH13 Gene

  • Protein details for MYH13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UKX3-MYH13_HUMAN
    Recommended name:
    Myosin-13
    Protein Accession:
    Q9UKX3
    Secondary Accessions:
    • O95252
    • Q9P0U8

    Protein attributes for MYH13 Gene

    Size:
    1938 amino acids
    Molecular mass:
    223605 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 MYH13 Gene

Post-translational modifications for MYH13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH13 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH13 Gene

Domains & Families for MYH13 Gene

Gene Families for MYH13 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q9UKX3

UniProtKB/Swiss-Prot:

MYH13_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).
  • The head-like domain S1 exhibits a much faster ATP-induced detachment from actin, and ADP affinity is more than 3-fold weaker than other myosins.
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.
genes like me logo Genes that share domains with MYH13: view

Function for MYH13 Gene

Molecular function for MYH13 Gene

GENATLAS Biochemistry:
myosin,motor contractile protein moving towards the "plus" end of actin track,heavy chain (EO myosin),expressed in hyperfast extra ocular and laryngeal muscles
UniProtKB/Swiss-Prot Function:
Fast twitching myosin mediating the high-velocity and low-tension contractions of specific striated muscles.

Phenotypes From GWAS Catalog for MYH13 Gene

Gene Ontology (GO) - Molecular Function for MYH13 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:0005516 calmodulin binding IEA --
genes like me logo Genes that share ontologies with MYH13: view
genes like me logo Genes that share phenotypes with MYH13: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MYH13
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MYH13 Gene

Localization for MYH13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH13 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 MYH13 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
cytosol 3
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYH13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005859 muscle myosin complex TAS 10388558
GO:0016459 myosin complex IEA --
GO:0030016 myofibril IEA --
GO:0032982 myosin filament IEA --
genes like me logo Genes that share ontologies with MYH13: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH13 Gene

Pathways & Interactions for MYH13 Gene

genes like me logo Genes that share pathways with MYH13: view

Gene Ontology (GO) - Biological Process for MYH13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 10388558
genes like me logo Genes that share ontologies with MYH13: view

No data available for SIGNOR curated interactions for MYH13 Gene

Drugs & Compounds for MYH13 Gene

(2) Drugs for MYH13 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 MYH13 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 MYH13 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 MYH13: view

Transcripts for MYH13 Gene

mRNA/cDNA for MYH13 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYH13 Gene

Myosin, heavy chain 13, skeletal muscle:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MYH13
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for MYH13 Gene

No ASD Table

Relevant External Links for MYH13 Gene

GeneLoc Exon Structure for
MYH13
ECgene alternative splicing isoforms for
MYH13

Expression for MYH13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYH13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH13 Gene

This gene is overexpressed in Muscle - Skeletal (x32.6) and Stomach (x8.3).

Protein differential expression in normal tissues from HIPED for MYH13 Gene

This gene is overexpressed in Heart (51.6) and Esophagus (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MYH13 Gene



NURSA nuclear receptor signaling pathways regulating expression of MYH13 Gene:

MYH13

SOURCE GeneReport for Unigene cluster for MYH13 Gene:

Hs.711142

mRNA Expression by UniProt/SwissProt for MYH13 Gene:

Q9UKX3-MYH13_HUMAN
Tissue specificity: Specifically expressed in extraocular and laryngeal muscles.

Evidence on tissue expression from TISSUES for MYH13 Gene

  • Muscle(4.6)
  • Eye(4.3)
  • Pancreas(4.1)
  • Lung(4)
genes like me logo Genes that share expression patterns with MYH13: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH13 Gene

Orthologs for MYH13 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYH13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYH13 33 34
  • 99.31 (n)
cow
(Bos Taurus)
Mammalia MYH13 33 34
  • 90.33 (n)
dog
(Canis familiaris)
Mammalia MYH13 33 34
  • 89.92 (n)
mouse
(Mus musculus)
Mammalia Myh13 33 16 34
  • 89.35 (n)
rat
(Rattus norvegicus)
Mammalia Myh13 33
  • 87.29 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 83 (a)
ManyToMany
-- 34
  • 78 (a)
ManyToMany
-- 34
  • 76 (a)
ManyToMany
chicken
(Gallus gallus)
Aves MYH13 33 34
  • 78.65 (n)
lizard
(Anolis carolinensis)
Reptilia MYH13 34
  • 86 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Mhc 35
  • 48 (a)
Prm 35
  • 34 (a)
worm
(Caenorhabditis elegans)
Secernentea F58G4.1 35
  • 46 (a)
myo-3 35
  • 46 (a)
F45G2.2 35
  • 44 (a)
Y11D7A.14 35
  • 29 (a)
hcp-1 35
  • 21 (a)
hcp-2 35
  • 21 (a)
Species where no ortholog for MYH13 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • zebrafish (Danio rerio)

Evolution for MYH13 Gene

ENSEMBL:
Gene Tree for MYH13 (if available)
TreeFam:
Gene Tree for MYH13 (if available)

Paralogs for MYH13 Gene

Paralogs for MYH13 Gene

Pseudogenes.org Pseudogenes for MYH13 Gene

genes like me logo Genes that share paralogs with MYH13: view

Variants for MYH13 Gene

Sequence variations from dbSNP and Humsavar for MYH13 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000039165 -- 10,370,621(+) TCAAC(C/T)TTCAT intron-variant
rs1000049788 -- 10,366,327(+) TACAC(A/C)CACAC intron-variant
rs1000104579 -- 10,351,797(+) GGGTA(C/T)ACATA intron-variant
rs1000143635 -- 10,313,455(+) CCCTA(C/T)GCTGT intron-variant
rs1000179749 -- 10,324,451(+) AAACA(C/T)ATTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYH13 Gene

Variant ID Type Subtype PubMed ID
dgv3098n100 CNV loss 25217958
dgv3099n100 CNV loss 25217958
dgv5443n54 CNV gain 21841781
esv22034 CNV gain 19812545
esv2648260 CNV deletion 19546169
esv2673102 CNV deletion 23128226
esv3417926 CNV duplication 20981092
esv3582525 CNV loss 25503493
esv3639933 CNV loss 21293372
esv3639934 CNV loss 21293372
nsv1058835 CNV loss 25217958
nsv1060957 CNV gain 25217958
nsv1061466 CNV gain 25217958
nsv457667 CNV loss 19166990
nsv520771 CNV gain+loss 19592680
nsv574348 CNV loss 21841781
nsv574349 CNV loss 21841781
nsv574350 CNV gain 21841781
nsv827883 CNV loss 20364138
nsv833366 CNV gain 17160897
nsv960049 CNV duplication 23825009
nsv960050 CNV duplication 23825009
nsv960407 CNV duplication 23825009

Variation tolerance for MYH13 Gene

Residual Variation Intolerance Score: 98.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.40; 97.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYH13 Gene

Human Gene Mutation Database (HGMD)
MYH13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH13

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH13 Gene

Disorders for MYH13 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MYH13 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
tongue disease
  • abnormality of the tongue
ankyloglossia
  • tongue-tie
- elite association - COSMIC cancer census association via MalaCards
Search MYH13 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYH13

Genetic Association Database (GAD)
MYH13
Human Genome Epidemiology (HuGE) Navigator
MYH13
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYH13
genes like me logo Genes that share disorders with MYH13: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYH13 Gene

Publications for MYH13 Gene

  1. The human extraocular muscle myosin heavy chain gene (MYH13) maps to the cluster of fast and developmental myosin genes on chromosome 17. (PMID: 9806854) Winters LM … Schachat F (Genomics 1998) 2 3 4 22 60
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  3. Assessment of Alzheimer's disease case-control associations using family-based methods. (PMID: 18830724) Schjeide BM … Bertram L (Neurogenetics 2009) 3 45 60
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 45 60
  5. Phylogenetic implications of the superfast myosin in extraocular muscles. (PMID: 12110653) Schachat F … Briggs MM (The Journal of experimental biology 2002) 3 4 60

Products for MYH13 Gene

Sources for MYH13 Gene

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