• Gene id: 4620

Gene Summary

• Gene Symbol: MYH2   Gene   UCSC   Ensembl
• Aliases: IBM3, MYH2A, MYHSA2, MYHas8, MYPOP, MyHC-2A, MyHC-IIa
• Gene name: myosin heavy chain 2
• Alternate names: myosin-2, fast 2a myosin heavy chain, inclusion body myopathy 3, autosomal dominant, myosin heavy chain 2a, myosin heavy chain IIa, myosin heavy chain, skeletal muscle, adult 2, myosin, heavy chain 2, skeletal muscle, adult, myosin, heavy polypeptide 2, skeletal,
• Gene location: 17p13.1 (10549657: 10521147)     Exons: 41     NC_000017.11
• Gene summary(Entrez): 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
• OMIM: 615404

Protein Summary

• Protein general information: Q9UKX2  
  • Name: Myosin 2 (Myosin heavy chain 2) (Myosin heavy chain 2a) (MyHC 2a) (Myosin heavy chain IIa) (MyHC IIa) (Myosin heavy chain, skeletal muscle, adult 2)
  • Length: 1941  
  • Mass: 223044
• Sequence:

  MSSDSELAVFGEAAPFLRKSERERIEAQNRPFDAKTSVFVAEPKESFVKGTIQSREGGKVTVKTEGGATLTVKDD
  QVFPMNPPKYDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSGLFCVTVNPYKWLPVYKPEVVTAYRGKKRQE
  APPHIFSISDNAYQFMLTDRENQSILITGESGAGKTVNTKRVIQYFATIAVTGEKKKEEITSGKIQGTLEDQIIS
  ANPLLEAFGNAKTVRNDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVVFQLKAERSYHIFYQITSNKKPEL
  IEMLLITTNPYDYPFVSQGEISVASIDDQEELMATDSAIDILGFTNEEKVSIYKLTGAVMHYGNLKFKQKQREEQ
  AEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTVEQVSNAVGALAKAVYEKMFLWMVARINQQL
  DTKQPRQYFIGVLDIAGFEIFDFNSLEQLCINFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIE
  LIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGKSANFQKPKVVKGKAEAHFALIHYAGVVDYNITGWLEKN
  KDPLNETVVGLYQKSAMKTLAQLFSGAQTAEGEGAGGGAKKGGKKKGSSFQTVSALFRENLNKLMTNLRSTHPHF
  VRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYADFKQRYKVLNASAIPEGQFIDSKKASEK
  LLASIDIDHTQYKFGHTKVFFKAGLLGLLEEMRDDKLAQLITRTQARCRGFLARVEYQRMVERREAIFCIQYNIR
  SFMNVKHWPWMKLFFKIKPLLKSAETEKEMATMKEEFQKIKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQAE
  AEGLADAEERCDQLIKTKIQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKH
  ATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEEDKVNTLTKAKIKLEQQVDDLEGSLEQEKKL
  RMDLERAKRKLEGDLKLAQESIMDIENEKQQLDEKLKKKEFEISNLQSKIEDEQALGIQLQKKIKELQARIEELE
  EEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRK
  KHADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNVETVSKAKGNLEKMCRTLEDQLSELKSKEEEQQRL
  INDLTAQRGRLQTESGEFSRQLDEKEALVSQLSRGKQAFTQQIEELKRQLEEEIKAKNALAHALQSSRHDCDLLR
  EQYEEEQESKAELQRALSKANTEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQAAEEHVEAVNAKCASLEKTKQ
  RLQNEVEDLMLDVERTNAACAALDKKQRNFDKILAEWKQKCEETHAELEASQKEARSLGTELFKIKNAYEESLDQ
  LETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKCELQAALEEAEASLEHEEGKILRIQLELNQVK
  SEVDRKIAEKDEEIDQLKRNHIRIVESMQSTLDAEIRSRNDAIRLKKKMEGDLNEMEIQLNHANRMAAEALRNYR
  NTQGILKDTQIHLDDALRSQEDLKEQLAMVERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQ
  NTSLINTKKKLETDISQMQGEMEDILQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTVKDLQ
  LRLDEAEQLALKGGKKQIQKLEARVRELEGEVESEQKRNAEAVKGLRKHERRVKELTYQTEEDRKNILRLQDLVD
  KLQAKVKSYKRQAEEAEEQSNTNLAKFRKLQHELEEAEERADIAESQVNKLRVKSREVHTKVISEE

• Structural information:
  • Protein Domains: (33..8-)
    SH3-like (/note="Myosin-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01190-)
    (86..78-)
    (/note="Myosin-motor)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00782-)
    (787..81-)
    (/note="IQ-)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR000048  IPR036961  IPR001609  IPR027401  IPR004009   IPR008989  IPR002928  IPR027417  
  • Prosite: PS50096 PS51456 PS51844
  • STRING: ENSP00000245503
• Other Databases: GeneCards:  MYH2  Malacards:  MYH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005911	cell-cell junction	IMP	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0003774	motor activity	IEA	molecular function
GO:0051015	actin filament binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0032982	myosin filament	IEA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005516	calmodulin binding	IEA	molecular function
GO:0016459	myosin complex	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0038096	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0030049	muscle filament sliding	NAS	biological process
GO:0006936	muscle contraction	IDA	biological process
GO:0030016	myofibril	IDA	cellular component
GO:0005859	muscle myosin complex	NAS	cellular component
GO:0030017	sarcomere	NAS	cellular component
GO:0030016	myofibril	IEA	cellular component
GO:0006936	muscle contraction	TAS	biological process
GO:0005859	muscle myosin complex	TAS	cellular component
GO:0000146	microfilament motor activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05132	Salmonella infection
hsa05130	Pathogenic Escherichia coli infection
hsa04530	Tight junction

Diseases

Associated diseases	References
Inclusion body myopathy 3	KEGG:H01229
Inclusion body myopathy 3	KEGG:H01229
Inclusion body myositis	PMID:11114175
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R