• Gene id: 4608

Gene Summary

• Gene Symbol: MYBPH   Gene   UCSC   Ensembl
• Gene name: myosin binding protein H
• Alternate names: myosin-binding protein H, H-protein, myBP-H,
• Gene location: 1q32.1 (203175825: 203167810)     Exons: 11     NC_000001.11

Protein Summary

• Protein general information: Q13203  
  • Name: Myosin binding protein H (MyBP H) (H protein)
  • Length: 477  
  • Mass: 52050
  • Tissue specificity: Mainly expressed in the skeletal muscle. Slightly expressed in the left atrium and arteria mammaria interna. {ECO
• Sequence:

  MMEKNTSEGPACSPEETASESAKVPTAEPPGEVAVSESTREEQVPKPQAPAPQAPTASTATKPAPPSEDVPSAPL
  LLTLDDVSSSSVTVSWEPPERLGRLGLQGYVLELCREGASEWVPVSARPMMVTQQTVRNLALGDKFLLRVSAVSS
  AGAGPPAMLDQPIHIRENIEAPKIRVPRHLRQTYIRQVGETVNLQIPFQGKPKPQATWTHNGHALDSQRVSMRTG
  DQDSILFIRSAQRSDSGRYELTVRVEDLEAKAVIDILVIEKPGPPSSIRLLDVWGCNAALQWTPPQDTGNTELLG
  YMVQKADKKTGQWFTVLERYHPTTCTISDLIIGNSYSFRVFSENLCGLSTSATVTKELAHIQKADIAAKPKGFIE
  RDFSEAPSFTQPLADHTSTPGYSTQLFCSVRASPKPKIIWMKNKMEIQGNPKYRALSEQGVCTLEIRKPSPFDSG
  VYTCKAINVLGEASVDCRLEVKASAAH

• Structural information:
  • Protein Domains: (73..16-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (172..26-)
    1 (/note="Ig-like-C2-type)
    (269..36-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (38-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • STRING: ENSP00000255416
• Other Databases: GeneCards:  MYBPH  Malacards:  MYBPH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032982	myosin filament	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0006942	regulation of striated muscle contraction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Hypospadias	MIK: 22906644

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22906644	Hypospadias	Methylation site (cg04083966)		20 (12 patients with isolated hypospadias and 8 healthy controls)	Male infertility	Microarray