• Gene id: 9172

Gene Summary

• Gene Symbol: MYOM2   Gene   UCSC   Ensembl
• Aliases: TTNAP
• Gene name: myomesin 2
• Alternate names: myomesin-2, 165 kDa connectin-associated protein, 165 kDa titin-associated protein, M-band protein, M-protein, myomesin (M-protein) 2, 165kDa, myomesin family member 2, titin-associated protein, 165 kD,
• Gene location: 8p23.3 (2045045: 2145455)     Exons: 37     NC_000008.11
• Gene summary(Entrez): The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of appa
• OMIM: 603509

Protein Summary

• Protein general information: P54296  
  • Name: Myomesin 2 (165 kDa connectin associated protein) (165 kDa titin associated protein) (M protein) (Myomesin family member 2)
  • Length: 1465  
  • Mass: 164896
• Sequence:

  MSLVTVPFYQKRHRHFDQSYRNIQTRYLLDEYASKKRASTQASSQKSLSQRSSSQRASSQTSLGGTICRVCAKRV
  STQEDEEQENRSRYQSLVAAYGEAKRQRFLSELAHLEEDVHLARSQARDKLDKYAIQQMMEDKLAWERHTFEERI
  SRAPEILVRLRSHTVWERMSVKLCFTVQGFPTPVVQWYKDGSLICQAAEPGKYRIESNYGVHTLEINRADFDDTA
  TYSAVATNAHGQVSTNAAVVVRRFRGDEEPFRSVGLPIGLPLSSMIPYTHFDVQFLEKFGVTFRREGETVTLKCT
  MLVTPDLKRVQPRAEWYRDDVLLKESKWTKMFFGEGQASLSFSHLHKDDEGLYTLRIVSRGGVSDHSAFLFVRDA
  DPLVTGAPGAPMDLQCHDANRDYVIVTWKPPNTTTESPVMGYFVDRCEVGTNNWVQCNDAPVKICKYPVTGLFEG
  RSYIFRVRAVNSAGISRPSRVSDAVAALDPLDLRRLQAVHLEGEKEIAIYQDDLEGDAQVPGPPTGVHASEISRN
  YVVLSWEPPTPRGKDPLMYFIEKSVVGSGSWQRVNAQTAVRSPRYAVFDLMEGKSYVFRVLSANRHGLSEPSEIT
  SPIQAQDVTVVPSAPGRVLASRNTKTSVVVQWDRPKHEEDLLGYYVDCCVAGTNLWEPCNHKPIGYNRFVVHGLT
  TGEQYIFRVKAVNAVGMSENSQESDVIKVQAALTVPSHPYGITLLNCDGHSMTLGWKVPKFSGGSPILGYYLDKR
  EVHHKNWHEVNSSPSKPTILTVDGLTEGSLYEFKIAAVNLAGIGEPSDPSEHFKCEAWTMPEPGPAYDLTFCEVR
  DTSLVMLWKAPVYSGSSPVSGYFVDFREEDAGEWITVNQTTTANRYLKVSDLQQGKTYVFRVRAVNANGVGKPSD
  TSEPVLVEARPGTKEISAGVDEQGNIYLGFDCQEMTDASQFTWCKSYEEISDDERFKIETVGDHSKLYLKNPDKE
  DLGTYSVSVSDTDGVSSSFVLDPEELERLMALSNEIKNPTIPLKSELAYEIFDKGRVRFWLQAEHLSPDASYRFI
  INDREVSDSEIHRIKCDKATGIIEMVMDRFSIENEGTYTVQIHDGKAKSQSSLVLIGDAFKTVLEEAEFQRKEFL
  RKQGPHFAEYLHWDVTEECEVRLVCKVANTKKETVFKWLKDDVLYETETLPNLERGICELLIPKLSKKDHGEYKA
  TLKDDRGQDVSILEIAGKVYDDMILAMSRVCGKSASPLKVLCTPEGIRLQCFMKYFTDEMKVNWCHKDAKISSSE
  HMRIGGSEEMAWLQICEPTEKDKGKYTFEIFDGKDNHQRSLDLSGQAFDEAFAEFQQFKAAAFAEKNRGRLIGGL
  PDVVTIMEGKTLNLTCTVFGNPDPEVIWFKNDQDIQLSEHFSVKVEQAKYVSMTIKGVTSEDSGKYSINIKNKYG
  GEKIDVTVSVYKHGEKIPDMAPPQQAKPKLIPASASAAGQ

• Structural information:
  • Protein Domains: (154..24-)
    1 (/note="Ig-like-C2-type)
    (266..37-)
    2 (/note="Ig-like-C2-type)
    (385..48-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (513..60-)
    2 (/note="Fibronectin-type-III)
    (/evidence="EC-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • STRING: ENSP00000262113
• Other Databases: GeneCards:  MYOM2  Malacards:  MYOM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005865	striated muscle thin filament	IBA	cellular component
GO:0007015	actin filament organization	IBA	biological process
GO:0008307	structural constituent of muscle	IBA	molecular function
GO:0030240	skeletal muscle thin filament assembly	IBA	biological process
GO:0030241	skeletal muscle myosin thick filament assembly	IBA	biological process
GO:0051015	actin filament binding	IBA	molecular function
GO:0055003	cardiac myofibril assembly	IBA	biological process
GO:0055008	cardiac muscle tissue morphogenesis	IBA	biological process
GO:0006936	muscle contraction	IBA	biological process
GO:0006941	striated muscle contraction	IBA	biological process
GO:0030017	sarcomere	IBA	cellular component
GO:0030018	Z disc	IBA	cellular component
GO:0031430	M band	IBA	cellular component
GO:0045214	sarcomere organization	IBA	biological process
GO:0048739	cardiac muscle fiber development	IBA	biological process
GO:0051371	muscle alpha-actinin binding	IBA	molecular function
GO:0071688	striated muscle myosin thick filament assembly	IBA	biological process
GO:0032982	myosin filament	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008307	structural constituent of muscle	TAS	molecular function
GO:0006936	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
GO:0005515	protein binding	IPI	molecular function
GO:0002074	extraocular skeletal muscle development	IEA	biological process
GO:0031430	M band	IEA	cellular component
GO:0006936	muscle contraction	IEA	biological process
GO:0031430	M band	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0019900	kinase binding	IPI	molecular function
GO:0005739	mitochondrion	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray