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Aliases for MYH8 Gene

Aliases for MYH8 Gene

  • Myosin Heavy Chain 8 2 3 4 5
  • Myosin, Heavy Polypeptide 8, Skeletal Muscle, Perinatal 2 3
  • Myosin Heavy Chain, Skeletal Muscle, Perinatal 3 4
  • MyHC-Perinatal 3 4
  • Myosin, Heavy Chain 8, Skeletal Muscle, Perinatal 3
  • Fetal-Myosin Heavy Chain 3
  • MyHC-Peri 3
  • Myosin-8 3
  • MyHC-Pn 3
  • GtMHC-F 3
  • DA7 3

External Ids for MYH8 Gene

Previous GeneCards Identifiers for MYH8 Gene

  • GC17M010659
  • GC17M011408
  • GC17M010236
  • GC17M010494
  • GC17M010234

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) is a Protein Coding gene. Diseases associated with MYH8 include Carney Complex Variant and Trismus-Pseudocamptodactyly Syndrome. Among its related pathways are Vesicle-mediated transport and Tight junction. GO annotations related to this gene include ATPase activity and actin filament binding. An important paralog of this gene is MYH1.

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 (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 MYH8 Gene

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

Genomics for MYH8 Gene

Regulatory Elements for MYH8 Gene

Enhancers for MYH8 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
GH17F010382 0.2 ENCODE 11.6 +37.5 37467 3.9 SMARCA4 POLR2A TEAD4 REST PRDM10 MYH8 MYH4 ENSG00000272736 MYHAS GC17P010421
GH17F010379 0.5 ENCODE 11.6 +41.2 41160 1.9 HDAC2 KDM1A MYH8 MYH4 ENSG00000272736 MYHAS MYH13
GH17F010446 0.2 ENCODE 11.4 -25.7 -25744 1.6 RARA CREM MIXL1 CEBPB MIER3 RFX3 ETV4 CEBPA RCOR2 SOX13 MYH4 MYH8 GC17P010459
GH17F010338 0.2 ENCODE 10.5 +83.8 83772 0.2 ZNF146 MYH13 MYH8 GC17P010345 ENSG00000264067
GH17F010421 0.2 ENCODE 0.8 -0.1 -99 0.2 FOSL1 SMARCE1 ARID1B JUND SMARCA4 ATF3 TAL1 MYH8 GC17P010459
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around MYH8 on UCSC Golden Path with GeneCards custom track

Genomic Location for MYH8 Gene

Chromosome:
17
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

Genes around MYH8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYH8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYH8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for MYH8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYH8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MYH8 Gene

Domains & Families for MYH8 Gene

Gene Families for MYH8 Gene

Suggested Antigen Peptide Sequences for MYH8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13535

UniProtKB/Swiss-Prot:

MYH8_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 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: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 MYH8: view

Phenotypes for MYH8 Gene

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

Human Phenotype Ontology for MYH8 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 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 5

Gene Ontology (GO) - Cellular Components for MYH8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 21370490
GO:0005829 cytosol TAS --
GO:0005859 muscle myosin complex NAS 2715179
GO:0016459 myosin complex IEA --
GO:0030016 myofibril IEA --
genes like me logo Genes that share ontologies with MYH8: view

Pathways & Interactions 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:0006470 protein dephosphorylation IEA --
GO:0006936 muscle contraction NAS 2715179
GO:0030049 muscle filament sliding IMP,TAS --
GO:0046034 ATP metabolic process IMP 17041932
genes like me logo Genes that share ontologies with MYH8: view

No data available for SIGNOR curated interactions for MYH8 Gene

Drugs & Compounds for MYH8 Gene

(2) Drugs for MYH8 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 MYH8 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 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

(1) 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x46.9).

Protein differential expression in normal tissues from HIPED for MYH8 Gene

This gene is overexpressed in Esophagus (60.9) and Heart (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MYH8 Gene



Protein tissue co-expression partners for MYH8 Gene

NURSA nuclear receptor signaling pathways regulating expression of MYH8 Gene:

MYH8

SOURCE GeneReport for Unigene cluster for MYH8 Gene:

Hs.700484
genes like me logo Genes that share expression patterns with MYH8: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for MYH8 Gene

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 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia MYHC-FETAL 35
  • 97 (a)
OneToOne
MYH8 34
  • 91.48 (n)
dog
(Canis familiaris)
Mammalia MYH8 34 35
  • 91.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 91 (a)
ManyToMany
-- 35
  • 90 (a)
ManyToMany
-- 35
  • 86 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Myh8 34
  • 88.95 (n)
mouse
(Mus musculus)
Mammalia Myh8 34 16 35
  • 88.85 (n)
chicken
(Gallus gallus)
Aves MYH1A 35
  • 89 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 87 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Mhc 36
  • 51 (a)
Prm 36
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea F58G4.1 36
  • 48 (a)
myo-3 36
  • 47 (a)
F45G2.2 36
  • 43 (a)
Y11D7A.14 36
  • 28 (a)
Species where no ortholog for MYH8 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)
  • 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

(14) 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
rs28932773 Carney complex variant (CACOV) [MIM:608837], Arthrogryposis, distal, 7 (DA7) [MIM:158300]
rs121434590 Pathogenic 10,406,924(-) CGTAC(A/G)GTGTA intron-variant, reference, missense
rs111692916 Likely benign 10,406,035(+) ATGAT(G/T)GTTAC intron-variant
rs115483891 Likely benign 10,406,714(+) ATAAG(A/T)TTCTG intron-variant, reference, missense
rs143876651 Likely benign 10,392,646(+) ACGTA(C/T)CTGCA intron-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv5443n54 CNV gain 21841781
esv3639935 CNV loss 21293372
nsv1058835 CNV loss 25217958
nsv1060957 CNV gain 25217958
nsv507834 OTHER sequence alteration 20534489
nsv520771 CNV gain+loss 19592680
nsv574349 CNV loss 21841781
nsv574350 CNV gain 21841781
nsv833366 CNV gain 17160897
nsv960051 CNV duplication 23825009
nsv960052 CNV duplication 23825009
nsv978359 CNV duplication 23825009

Variation tolerance for MYH8 Gene

Residual Variation Intolerance Score: 40.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 14.53; 96.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYH8 Gene

Human Gene Mutation Database (HGMD)
MYH8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYH8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYH8 Gene

Disorders for MYH8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MYH8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
carney complex variant
  • carney complex
trismus-pseudocamptodactyly syndrome
  • arthrogryposis, distal, type 7
carney complex, type 1
  • carney complex
arthrogryposis, distal, type 2a
  • distal arthrogryposis
acute t cell leukemia
  • precursor t lymphoblastic leukemia
- elite association - COSMIC cancer census association via MalaCards
Search MYH8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYH8_HUMAN
  • 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.
  • 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.

Relevant External Links for MYH8

Genetic Association Database (GAD)
MYH8
Human Genome Epidemiology (HuGE) Navigator
MYH8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYH8
genes like me logo Genes that share disorders with MYH8: view

No data available for Genatlas for MYH8 Gene

Publications for MYH8 Gene

  1. 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 22 64
  2. 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 64
  3. 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
  4. 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 64
  5. 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

Products for MYH8 Gene

Sources for MYH8 Gene

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