• Gene id: 4625

Gene Summary

• Gene Symbol: MYH7   Gene   UCSC   Ensembl
• Aliases: CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM
• Gene name: myosin heavy chain 7
• Alternate names: myosin-7, cardiac muscle myosin heavy chain 7 beta, myHC-beta, myhc-slow, myopathy, distal 1, myosin 7, myosin heavy chain beta-subunit, myosin heavy chain slow isoform, myosin heavy chain, cardiac muscle beta isoform, myosin, heavy chain 7, cardiac muscl,
• Gene location: 14q11.2 (23435685: 23412737)     Exons: 40     NC_000014.9
• Gene summary(Entrez): Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in norm
• OMIM: 160760

Protein Summary

• Protein general information: P12883  
  • Name: Myosin 7 (Myosin heavy chain 7) (Myosin heavy chain slow isoform) (MyHC slow) (Myosin heavy chain, cardiac muscle beta isoform) (MyHC beta)
  • Length: 1935  
  • Mass: 223,097
  • Tissue specificity: Expressed in endothelial cells from small and large arteries, and in arterial smooth muscle cells. Expressed in lung alveolar epithelial cells, enterocytes of the small intestine, Leydig cells and Sertoli cells (at protein level). Expr
• Sequence:

  MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVTAETEYGKTVTVKEDQ
  VMQQNPPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGLFCVTVNPYKWLPVYTPEVVAAYRGKKRSEA
  PPHIFSISDNAYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANP
  ALEAFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDM
  LLITNNPYDYAFISQGETTVASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFGNMKFKLKQREEQAEP
  DGTEEADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQNVQQVIYATGALAKAVYERMFNWMVTRINATLETK
  QPRQYFIGVLDIAGFEIFDFNSFEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIE
  KPMGIMSILEEECMFPKATDMTFKAKLFDNHLGKSANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDP
  LNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKKGSSFQTVSALHRENLNKLMTNLRSTHPHFVRCIIP
  NETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAEKLLSSLD
  IDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWNIRAFMGVK
  NWPWMKLYFKIKPLLKSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNLAD
  AEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELTLAKVEKEKHATENKV
  KNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTLTKAKVKLEQQVDDLEGSLEQEKKVRMDLER
  AKRKLEGDLKLTQESIMDLENDKQQLDERLKKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEEELEAE
  RTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSV
  AELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHRSKAEETQRSVNDLTS
  QRAKLQTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLEEEVKAKNALAHALQSARHDCDLLREQYEEE
  TEAKAELQRVLSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEI
  EDLMVDVERSNAAAAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKR
  ENKNLQEEISDLTEQLGSSGKTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERK
  LAEKDEEMEQAKRNHLRVVDSLQTSLDAETRSRNEALRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLL
  KDTQIQLDDAVRANDDLKENIAIVERRNNLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLIN
  QKKKMDADLSQLQTEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEA
  EQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGMRKSERRIKELTYQTEEDRKNLLRLQDLVDKLQLKV
  KAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKLRAKSRDIGTKGLNEE

• Structural information:
  • Protein Domains: Myosin (32-81)
    Myosin (85-778)
    IQ. (781-810)
  • Interpro: IPR000048  IPR036961  IPR001609  IPR004009  IPR008989   IPR002928  IPR027417  
  • Prosite: PS50096 PS51456 PS51844
  • PDB: 1IK2 2FXM 2FXO 3DTP 4DB1 4P7H 4PA0 4XA1 4XA3 4XA4 4XA6 5CHX 5CJ0 5CJ1 5CJ4 5TBY 5WJ7 5WJB 5WLQ 5WLZ 5WME
  • PDBsum: 1IK2 2FXM 2FXO 3DTP 4DB1 4P7H 4PA0 4XA1 4XA3 4XA4 4XA6 5CHX 5CJ0 5CJ1 5CJ4 5TBY 5WJ7 5WJB 5WLQ 5WLZ 5WME
  • STRING: ENSP00000347507
• Other Databases: GeneCards:  MYH7  Malacards:  MYH7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000146	microfilament motor activity	IDA	molecular function
GO:0000146	microfilament motor activity	NAS	molecular function
GO:0001725	stress fiber	IEA	cellular component
GO:0002026	regulation of the force of heart contraction	IDA	biological process
GO:0002027	regulation of heart rate	IDA	biological process
GO:0003009	skeletal muscle contraction	IMP	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005859	muscle myosin complex	TAS	cellular component
GO:0006936	muscle contraction	IDA	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0006941	striated muscle contraction	IDA	biological process
GO:0007512	adult heart development	IMP	biological process
GO:0014728	regulation of the force of skeletal muscle contraction	IMP	biological process
GO:0014883	transition between fast and slow fiber	IEA	biological process
GO:0016459	myosin complex	TAS	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0030017	sarcomere	TAS	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0030049	muscle filament sliding	IMP	biological process
GO:0030049	muscle filament sliding	IMP	biological process
GO:0030898	actin-dependent ATPase activity	IMP	molecular function
GO:0031449	regulation of slow-twitch skeletal muscle fiber contraction	IMP	biological process
GO:0032982	myosin filament	IDA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0046034	ATP metabolic process	IDA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0000146	microfilament motor activity	IEA	molecular function
GO:0000146	microfilament motor activity	IDA	molecular function
GO:0000146	microfilament motor activity	NAS	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0001725	stress fiber	IEA	cellular component
GO:0002026	regulation of the force of heart contraction	IDA	biological process
GO:0002027	regulation of heart rate	IDA	biological process
GO:0003009	skeletal muscle contraction	IMP	biological process
GO:0003774	motor activity	IEA	molecular function
GO:0003779	actin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005859	muscle myosin complex	IEA	cellular component
GO:0005859	muscle myosin complex	TAS	cellular component
GO:0005859	muscle myosin complex	TAS	cellular component
GO:0006936	muscle contraction	IEA	biological process
GO:0006936	muscle contraction	IDA	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0006941	striated muscle contraction	IDA	biological process
GO:0007512	adult heart development	IMP	biological process
GO:0014728	regulation of the force of skeletal muscle contraction	IMP	biological process
GO:0014883	transition between fast and slow fiber	IEA	biological process
GO:0016459	myosin complex	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0016459	myosin complex	IEA	cellular component
GO:0016459	myosin complex	TAS	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0016887	ATPase activity	IDA	molecular function
GO:0030016	myofibril	IEA	cellular component
GO:0030016	myofibril	IEA	cellular component
GO:0030017	sarcomere	TAS	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0030049	muscle filament sliding	IMP	biological process
GO:0030049	muscle filament sliding	IMP	biological process
GO:0030898	actin-dependent ATPase activity	IMP	molecular function
GO:0031449	regulation of slow-twitch skeletal muscle fiber contraction	IMP	biological process
GO:0032982	myosin filament	IEA	cellular component
GO:0032982	myosin filament	IDA	cellular component
GO:0042803	protein homodimerization activity	IEA	molecular function
GO:0046034	ATP metabolic process	IDA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process
GO:0000146	microfilament motor activity	IDA	molecular function
GO:0000146	microfilament motor activity	NAS	molecular function
GO:0002026	regulation of the force of heart contraction	IDA	biological process
GO:0002027	regulation of heart rate	IDA	biological process
GO:0003009	skeletal muscle contraction	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005859	muscle myosin complex	TAS	cellular component
GO:0005859	muscle myosin complex	TAS	cellular component
GO:0006936	muscle contraction	IDA	biological process
GO:0006936	muscle contraction	TAS	biological process
GO:0006941	striated muscle contraction	IDA	biological process
GO:0007512	adult heart development	IMP	biological process
GO:0014728	regulation of the force of skeletal muscle contraction	IMP	biological process
GO:0016459	myosin complex	TAS	cellular component
GO:0016887	ATPase activity	IDA	molecular function
GO:0030017	sarcomere	TAS	cellular component
GO:0030049	muscle filament sliding	IMP	biological process
GO:0030049	muscle filament sliding	IMP	biological process
GO:0030898	actin-dependent ATPase activity	IMP	molecular function
GO:0031449	regulation of slow-twitch skeletal muscle fiber contraction	IMP	biological process
GO:0032982	myosin filament	IDA	cellular component
GO:0046034	ATP metabolic process	IDA	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IMP	biological process
GO:0060048	cardiac muscle contraction	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa04919	Thyroid hormone signaling pathway
hsa04260	Cardiac muscle contraction
hsa04261	Adrenergic signaling in cardiomyocytes
hsa05410	Hypertrophic cardiomyopathy
hsa05414	Dilated cardiomyopathy
hsa05416	Viral myocarditis

Diseases

Associated diseases	References
Cardiomyopathy	OMIM: 160760
Cardiovascular disease	GAD: 16087648
Myosin storage myopathy	KEGG: H00703
Myopathy	OMIM: 160760
Nonsyndromic cryptorchidism	MIK: 22906643
Hypertrophy	GAD: 16087648
Hypertrophy	GAD: 20975235
Scapuloperoneal syndrome	OMIM: 160760
Cryptorchidism	MIK: 28606200
Nonsyndromic cryptorchidism	MIK: 22906643
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22906643	Nonsyndromic cryptorchidism			229 (Boys with congenital (79) or acquired (66) nonsyndromic cryptorchidism and hernia/hydrocele (controls, 84))	Male infertility	MYH1 MYH2 MYH7 RXFP2 AR ESR1 ESR2
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray