Free for academic non-profit institutions. Other users need a Commercial license

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 Arthrogryposis, Distal, Type 7. Among its related pathways are ERK Signaling and Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. Gene Ontology (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

Additional gene information for MYH8 Gene

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

Genomics for MYH8 Gene

GeneHancer (GH) Regulatory Elements for MYH8 Gene

Promoters and enhancers for MYH8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J010420 Enhancer 0.2 ENCODE 650.7 +1.0 954 1.9 MYH8 GC17P010421 MYH13 MYH4 ENSG00000272736 MYHAS
GH17J010421 Enhancer 0.2 ENCODE 650.7 -0.1 -99 0.2 GC17P010421 MYH8 GC17P010459 ENSG00000272736 MYHAS
GH17J010446 Enhancer 0.8 ENCODE 11.4 -25.7 -25744 1.6 FOXA2 RARA ETS1 CREM MIXL1 CEBPB NFIL3 MIER3 RFX3 RCOR2 MYH4 MYH8 GC17P010459 MYHAS ENSG00000272736
GH17J010382 Enhancer 0.5 ENCODE 11.6 +37.5 37466 3.9 CTCF POLR2A GABPB1 SIN3A RFX5 ENSG00000272736 MYHAS MYH8 MYH4 GC17P010421
GH17J010379 Enhancer 0.3 ENCODE 11.6 +41.2 41160 1.9 HDAC2 MYH8 MYH4 ENSG00000272736 MYHAS MYH13
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYH8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYH8 gene promoter:
  • LCR-F1
  • deltaCREB
  • CREB
  • SRY
  • Max1
  • c-Myc
  • NF-1/L
  • NF-1
  • XBP-1
  • GATA-1

Genomic Locations for MYH8 Gene

Genomic Locations for MYH8 Gene
chr17:10,390,322-10,421,950
(GRCh38/hg38)
Size:
31,629 bases
Orientation:
Minus strand
chr17:10,293,639-10,325,267
(GRCh37/hg19)
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:

No data available for DME Specific Peptides for MYH8 Gene

Domains & Families for MYH8 Gene

Gene Families for MYH8 Gene

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

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).
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

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

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:0003777 microtubule motor activity IEA --
GO:0003779 actin binding IEA --
genes like me logo Genes that share ontologies with MYH8: view
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

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
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 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 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MYH8 Gene

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:0007018 microtubule-based movement IEA --
GO:0030049 muscle filament sliding TAS,IMP --
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:

Clone 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 CGAP 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 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

Evidence on tissue expression from TISSUES for MYH8 Gene

  • Muscle(4.6)
  • Pancreas(4.1)
  • Lung(4)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MYH8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • chin
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • pharynx
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
Abdomen:
  • stomach
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • skin
genes like me logo Genes that share expression patterns with MYH8: view

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 33
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYHC-FETAL 34
  • 97 (a)
OneToOne
MYH8 33
  • 91.48 (n)
dog
(Canis familiaris)
Mammalia MYH8 34 33
  • 91.36 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 91 (a)
ManyToMany
-- 34
  • 90 (a)
ManyToMany
-- 34
  • 86 (a)
ManyToMany
-- 34
  • 66 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Myh8 33
  • 88.95 (n)
mouse
(Mus musculus)
Mammalia Myh8 16 34 33
  • 88.85 (n)
chicken
(Gallus gallus)
Aves MYH1A 34
  • 89 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 87 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta Mhc 35
  • 51 (a)
Prm 35
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea F58G4.1 35
  • 48 (a)
myo-3 35
  • 47 (a)
F45G2.2 35
  • 43 (a)
Y11D7A.14 35
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYH8: view image

Paralogs for MYH8 Gene

Paralogs for MYH8 Gene

(14) SIMAP similar genes for MYH8 Gene using alignment to 1 proteins:

  • MYH8_HUMAN
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 Variation AA Info Type
rs1060499727 uncertain-significance, Hecht syndrome 10,391,923(-) G/A coding_sequence_variant, stop_gained
rs1060499728 uncertain-significance, Hecht syndrome 10,412,378(-) TTT/TT coding_sequence_variant, frameshift
rs1060499730 uncertain-significance, Hecht syndrome 10,396,611(-) G/ coding_sequence_variant, frameshift
rs1060499731 uncertain-significance, Hecht syndrome 10,406,733(-) T/A coding_sequence_variant, stop_gained
rs121434590 pathogenic, Carney complex variant, Hecht syndrome, not provided, Arthrogryposis, distal, 7 (DA7) [MIM:158300], Carney complex variant (CACOV) [MIM:608837] 10,406,924(-) C/T coding_sequence_variant, missense_variant

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)

Additional Variant Information for MYH8 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for MYH8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for MYH8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
carney complex variant
  • carney complex
arthrogryposis, distal, type 7
  • da7
distal arthrogryposis
  • freeman-sheldon syndrome
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
  • 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.

Additional Disease Information for MYH8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CT (The New England journal of medicine 2004) 3 4 22 58
  2. Generation of a full-length human perinatal myosin heavy-chain-encoding cDNA. (PMID: 2373371) Karsch-Mizrachi I … Leinwand LA (Gene 1990) 2 3 4 58
  3. Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot. (PMID: 20357587) Shyy W … Morcuende JA (Journal of pediatric orthopedics 2010) 3 44 58
  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 SD … DREAM investigators (Diabetes care 2010) 3 44 58
  5. Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly. (PMID: 20949528) Bonapace G … Concolino D (American journal of medical genetics. Part A 2010) 3 4 58

Products for MYH8 Gene

Sources for MYH8 Gene

Content
Loading form....