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Aliases for MYH8 Gene

Aliases for MYH8 Gene

  • Myosin, Heavy Chain 8, Skeletal Muscle, Perinatal 2 3
  • Myosin, Heavy Polypeptide 8, Skeletal Muscle, Perinatal 2 3
  • Myosin Heavy Chain, Skeletal Muscle, Perinatal 3 4
  • Myosin Heavy Chain 8 3 4
  • MyHC-Perinatal 3 4
  • Fetal-Myosin Heavy Chain 3
  • MyHC-Peri 3
  • Myosin-8 3
  • MyHC-Pn 3
  • GtMHC-F 3
  • DA7 3

External Ids for MYH8 Gene

Summaries for MYH8 Gene

Entrez Gene Summary for MYH8 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 predominantly expressed in fetal skeletal muscle. This gene is found in a cluster of myosin heavy chain genes on chromosome 17. A mutation in this gene results in trismus-pseudocamptodactyly syndrome. [provided by RefSeq, Sep 2009]

GeneCards Summary for MYH8 Gene

MYH8 (Myosin, Heavy Chain 8, Skeletal Muscle, Perinatal) is a Protein Coding gene. Diseases associated with MYH8 include trismus-pseudocamptodactyly syndrome and melanotic neurilemmoma. Among its related pathways are RhoGDI Pathway and ERK Signaling. GO annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is MYH4.

UniProtKB/Swiss-Prot for MYH8 Gene

  • Muscle contraction

Tocris Summary for MYH8 Gene

  • Myosins are a large family of motor proteins that share the common features of ATP hydrolysis, actin binding and potential for kinetic energy transduction. Originally isolated from muscle cells (hence the name), almost all eukaryotic cells are now known to contain myosins. Structurally, mysoins contain a head domain that binds to actin filaments (microfilaments) and is the site of ATP hydrolysis. The tail domain interacts with cargo molecules, and the neck acts as a linker between the head and tail and is the site of regulatory myosin light chain binding. There are 17 myosin families and the most well characterized is myosin II. Myosin II is found predominantly in myocytes and mediates plus-ended movement along microfilaments. It is involved in muscle contraction through cyclic interactions with actin-rich thin filaments, creating a contractile force. It is regulated by phosphorylation via myosin light chain kinase (MLCK) and by intracellular Ca2+ concentrations.

Gene Wiki entry for MYH8 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYH8 Gene

Genomics for MYH8 Gene

Genomic Location for MYH8 Gene

Start:
10,390,322 bp from pter
End:
10,421,950 bp from pter
Size:
31,629 bases
Orientation:
Minus strand

Genomic View for MYH8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYH8 Gene

Regulatory Elements for MYH8 Gene

Proteins for MYH8 Gene

  • Protein details for MYH8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13535-MYH8_HUMAN
    Recommended name:
    Myosin-8
    Protein Accession:
    P13535
    Secondary Accessions:
    • Q14910

    Protein attributes for MYH8 Gene

    Size:
    1937 amino acids
    Molecular mass:
    222763 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 MYH8 Gene

Proteomics data for MYH8 Gene at MOPED

Post-translational modifications for MYH8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MYH8 Gene

Domains for MYH8 Gene

Gene Families for MYH8 Gene

HGNC:
  • MYHII :Myosins / Myosin superfamily : Class II

UniProtKB/Swiss-Prot:

MYH8_HUMAN
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:
    • P13535
  • Each myosin heavy chain can be split into 1 light meromyosin (LMM) and 1 heavy meromyosin (HMM). It can later be split further into 2 globular subfragments (S1) and 1 rod-shaped subfragment (S2):
    • P13535
  • Contains 1 IQ domain.:
    • P13535
  • Contains 1 myosin motor domain.:
    • P13535
Family:
  • Belongs to the TRAFAC class myosin-kinesin ATPase superfamily. Myosin family.:
    • P13535
genes like me logo Genes that share domains with MYH8: view

Function for MYH8 Gene

Molecular function for MYH8 Gene

GENATLAS Biochemistry: myosin,motor contractile protein moving towards the "plus" end of actin track,heavy polypeptide 8,skeletal muscle,perinatal
UniProtKB/Swiss-Prot Function: Muscle contraction

Gene Ontology (GO) - Molecular Function for MYH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000146 microfilament motor activity IMP 17041932
GO:0003774 motor activity --
GO:0005515 protein binding --
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IMP 17041932
genes like me logo Genes that share ontologies with MYH8: view

Phenotypes for MYH8 Gene

GenomeRNAi human phenotypes for MYH8:
genes like me logo Genes that share phenotypes with MYH8: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MYH8 Gene

Localization for MYH8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYH8 Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYH8 Gene COMPARTMENTS Subcellular localization image for MYH8 gene
Compartment Confidence
cytoskeleton 5
cytosol 4
nucleus 4

Gene Ontology (GO) - Cellular Components for MYH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 21370490
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex NAS 2715179
GO:0016020 membrane --
GO:0016459 myosin complex --
genes like me logo Genes that share ontologies with MYH8: view

Pathways for MYH8 Gene

genes like me logo Genes that share pathways with MYH8: view

Gene Ontology (GO) - Biological Process for MYH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003009 skeletal muscle contraction IMP 17041932
GO:0006200 obsolete ATP catabolic process --
GO:0006936 muscle contraction NAS 2715179
GO:0008152 metabolic process IMP 17041932
GO:0016192 vesicle-mediated transport --
genes like me logo Genes that share ontologies with MYH8: view

Compounds for MYH8 Gene

(4) Tocris Compounds for MYH8 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 MYH8: view

Transcripts for MYH8 Gene

mRNA/cDNA for MYH8 Gene

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

Unigene Clusters for MYH8 Gene

Myosin, heavy chain 8, skeletal muscle, perinatal:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYH8 Gene

No ASD Table

Relevant External Links for MYH8 Gene

GeneLoc Exon Structure for
MYH8
ECgene alternative splicing isoforms for
MYH8

Expression for MYH8 Gene

mRNA expression in normal human tissues for MYH8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYH8 Gene

This gene is overexpressed in Muscle - Skeletal (46.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYH8 Gene

SOURCE GeneReport for Unigene cluster for MYH8 Gene Hs.700484

genes like me logo Genes that share expressions with MYH8: view

Orthologs for MYH8 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYH8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYH8 36
  • 99.5 (n)
  • 99.64 (a)
MYH8 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYH8 36
  • 91.48 (n)
  • 97.01 (a)
MYHC-FETAL 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYH8 36
  • 91.36 (n)
  • 97.26 (a)
MYH8 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myh8 36
  • 88.85 (n)
  • 97.01 (a)
Myh8 16
Myh8 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 66 (a)
ManyToMany
-- 37
  • 90 (a)
ManyToMany
-- 37
  • 86 (a)
ManyToMany
-- 37
  • 91 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Myh8 36
  • 88.95 (n)
  • 97.37 (a)
chicken
(Gallus gallus)
Aves MYH1A 37
  • 89 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 87 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Mhc 38
  • 51 (a)
Prm 38
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea myo-3 38
  • 47 (a)
F58G4.1 38
  • 48 (a)
F45G2.2 38
  • 43 (a)
Y11D7A.14 38
  • 28 (a)
Species with no ortholog for MYH8:
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 MYH8 Gene

ENSEMBL:
Gene Tree for MYH8 (if available)
TreeFam:
Gene Tree for MYH8 (if available)

Paralogs for MYH8 Gene

Paralogs for MYH8 Gene

Selected SIMAP similar genes for MYH8 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MYH8: view

Variants for MYH8 Gene

Sequence variations from dbSNP and Humsavar for MYH8 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
VAR_019810 Arthrogryposis, distal, 7 (DA7), Carney complex variant (CACOV)
VAR_030207 -
VAR_030208 -
VAR_030209 -
VAR_050202 -

Structural Variations from Database of Genomic Variants (DGV) for MYH8 Gene

Variant ID Type Subtype PubMed ID
nsv907673 CNV Gain 21882294
nsv520771 CNV Gain+Loss 19592680
nsv907679 CNV Gain 21882294
nsv833366 CNV Gain 17160897
nsv507834 CNV Insertion 20534489

Relevant External Links for MYH8 Gene

HapMap Linkage Disequilibrium report
MYH8
Human Gene Mutation Database (HGMD)
MYH8

Disorders for MYH8 Gene

(2) OMIM Diseases for MYH8 Gene (160741)

UniProtKB/Swiss-Prot

MYH8_HUMAN
  • Carney complex variant (CACOV) [MIM:608837]: Carney complex is a multiple neoplasia syndrome characterized by spotty skin pigmentation, cardiac and other myxomas, endocrine tumors, and psammomatous melanotic schwannomas. Familial cardiac myxomas are associated with spotty pigmentation of the skin and other phenotypes, including primary pigmented nodular adrenocortical dysplasia, extracardiac (frequently cutaneous) myxomas, schwannomas, and pituitary, thyroid, testicular, bone, ovarian, and breast tumors. Cardiac myxomas do not develop in all patients with the Carney complex, but affected patients have at least two features of the complex or one feature and a clinically significant family history. {ECO:0000269 PubMed:15282353}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Arthrogryposis, distal, 7 (DA7) [MIM:158300]: 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. DA7 is characterized by an inability to open the mouth fully (trismus) and pseudocamptodactyly in which wrist dorsiflexion, but not volarflexion, produces involuntary flexion contracture of distal and proximal interphalangeal joints. Additional features include shortened hamstring muscles and short stature. {ECO:0000269 PubMed:15282353, ECO:0000269 PubMed:20949528}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MYH8

Genetic Association Database (GAD)
MYH8
Human Genome Epidemiology (HuGE) Navigator
MYH8
genes like me logo Genes that share disorders with MYH8: view

Publications for MYH8 Gene

  1. Generation of a full-length human perinatal myosin heavy-chain- encoding cDNA. (PMID: 2373371) Karsch-Mizrachi I. … Leinwand L.A. (Gene 1990) 2 3 4
  2. Mutation of perinatal myosin heavy chain associated with a Carney complex variant. (PMID: 15282353) Veugelers M. … Basson C.T. (N. Engl. J. Med. 2004) 3 4 23
  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 49
  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 49
  5. Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. (PMID: 20949528) Bonapace G. … Concolino D. (Am. J. Med. Genet. A 2010) 3 4

Products for MYH8 Gene

Sources for MYH8 Gene

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