MYH8

Protein-coding gene in the species Homo sapiens
MYH8
Identifiers
AliasesMYH8, MyHC-peri, MyHC-pn, gtMHC-F, DA7, myosin, heavy chain 8, skeletal muscle, perinatal, myosin heavy chain 8
External IDsOMIM: 160741; MGI: 1339712; HomoloGene: 68256; GeneCards: MYH8; OMA:MYH8 - orthologs
Gene location (Human)
Chromosome 17 (human)
Chr.Chromosome 17 (human)[1]
Chromosome 17 (human)
Genomic location for MYH8
Genomic location for MYH8
Band17p13.1Start10,390,322 bp[1]
End10,421,950 bp[1]
Gene location (Mouse)
Chromosome 11 (mouse)
Chr.Chromosome 11 (mouse)[2]
Chromosome 11 (mouse)
Genomic location for MYH8
Genomic location for MYH8
Band11 B3|11 40.59 cMStart67,167,950 bp[2]
End67,199,460 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • vastus lateralis muscle

  • Skeletal muscle tissue of rectus abdominis

  • triceps brachii muscle

  • Skeletal muscle tissue of biceps brachii

  • tibialis anterior muscle

  • deltoid muscle

  • glutes

  • testicle

  • kidney tubule

  • gastrocnemius muscle
Top expressed in
  • masseter muscle

  • esophagus

  • fossa

  • temporal muscle

  • human fetus

  • extraocular muscle

  • internal carotid artery

  • ankle joint

  • muscle of thigh

  • condyle
More reference expression data
BioGPS


More reference expression data
Gene ontology
Molecular function
  • myosin light chain binding
  • nucleotide binding
  • microfilament motor activity
  • structural constituent of muscle
  • ATPase activity
  • cytoskeletal motor activity
  • actin binding
  • ATP binding
  • calmodulin binding
  • myosin phosphatase activity
  • actin filament binding
  • microtubule motor activity
  • microtubule binding
Cellular component
  • cytoplasm
  • myosin filament
  • cytosol
  • muscle myosin complex
  • sarcomere
  • myofibril
  • myosin complex
Biological process
  • skeletal muscle contraction
  • ATP metabolic process
  • muscle contraction
  • muscle filament sliding
  • protein dephosphorylation
  • microtubule-based movement
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

4626

17885

Ensembl

ENSG00000133020

ENSMUSG00000055775

UniProt

P13535

P13542

RefSeq (mRNA)

NM_002472

NM_177369

RefSeq (protein)

NP_002463

NP_796343

Location (UCSC)Chr 17: 10.39 – 10.42 MbChr 11: 67.17 – 67.2 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myosin-8 is a protein that in humans is encoded by the MYH8 gene.[5][6]

Mutations in MYH8 are associated with Trismus pseudocamptodactyly syndrome.


References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000133020 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000055775 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Karsch-Mizrachi I, Feghali R, Shows TB, Leinwand LA (Aug 1990). "Generation of a full-length human perinatal myosin heavy-chain-encoding cDNA". Gene. 89 (2): 289–94. doi:10.1016/0378-1119(90)90020-R. PMID 2373371.
  6. ^ "Entrez Gene: MYH8 myosin, heavy chain 8, skeletal muscle, perinatal".

Further reading

  • Bober E, Buchberger-Seidl A, Braun T, et al. (1990). "Identification of three developmentally controlled isoforms of human myosin heavy chains". Eur. J. Biochem. 189 (1): 55–65. doi:10.1111/j.1432-1033.1990.tb15459.x. PMID 1691980.
  • Bober E, Lyons GE, Braun T, et al. (1991). "The muscle regulatory gene, Myf-6, has a biphasic pattern of expression during early mouse development". J. Cell Biol. 113 (6): 1255–65. doi:10.1083/jcb.113.6.1255. PMC 2289041. PMID 2045411.
  • Feghali R, Leinwand LA (1989). "Molecular genetic characterization of a developmentally regulated human perinatal myosin heavy chain". J. Cell Biol. 108 (5): 1791–7. doi:10.1083/jcb.108.5.1791. PMC 2115547. PMID 2715179.
  • Jullian EH, Kelly AM, Pompidou AJ, et al. (1995). "Characterization of a human perinatal myosin heavy-chain transcript". Eur. J. Biochem. 230 (3): 1001–6. doi:10.1111/j.1432-1033.1995.tb20648.x. PMID 7601129.
  • Soussi-Yanicostas N, Whalen RG, Petit C (1993). "Five skeletal myosin heavy chain genes are organized as a multigene complex in the human genome". Hum. Mol. Genet. 2 (5): 563–9. doi:10.1093/hmg/2.5.563. PMID 8518795.
  • Veugelers M, Bressan M, McDermott DA, et al. (2004). "Mutation of perinatal myosin heavy chain associated with a Carney complex variant". N. Engl. J. Med. 351 (5): 460–9. doi:10.1056/NEJMoa040584. PMID 15282353.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Toydemir RM, Chen H, Proud VK, et al. (2007). "Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8". Am. J. Med. Genet. A. 140 (22): 2387–93. doi:10.1002/ajmg.a.31495. PMID 17041932. S2CID 1775227.
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Human
Microfilaments
and ABPs
Myofilament
Actins
Myosins
Other
Other
Intermediate
filaments
Type 1/2
(Keratin,
Cytokeratin)
Epithelial keratins
(soft alpha-keratins)
Hair keratins
(hard alpha-keratins)
Ungrouped alpha
Not alpha
Type 3
Type 4
Type 5
Microtubules
and MAPs
Tubulins
MAPs
Kinesins
Dyneins
Microtubule organising proteins
Microtubule severing proteins
Other
Catenins
Membrane
Other
Nonhuman
See also: cytoskeletal defects


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