MYOM2 (myomesin 2)

Gene

• Entrez ID: 9172
• Gene name: Myomesin 2
• Gene symbol: MYOM2
• Synonyms (NCBI Gene): TTNAP
• Chromosome: 8
• Chromosome location: 8p23.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT685607	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT685606	hsa-miR-300	HITS-CLIP	23313552
MIRT685605	hsa-miR-381-3p	HITS-CLIP	23313552
MIRT685604	hsa-miR-4666a-3p	HITS-CLIP	23313552
MIRT685603	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT685602	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT685601	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT685600	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT685599	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT685598	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT685607	hsa-miR-6771-3p	HITS-CLIP	23313552
MIRT685606	hsa-miR-300	HITS-CLIP	23313552
MIRT685605	hsa-miR-381-3p	HITS-CLIP	23313552
MIRT685604	hsa-miR-4666a-3p	HITS-CLIP	23313552
MIRT685603	hsa-miR-3675-3p	HITS-CLIP	23313552
MIRT685602	hsa-let-7a-3p	HITS-CLIP	23313552
MIRT685601	hsa-let-7b-3p	HITS-CLIP	23313552
MIRT685600	hsa-let-7f-1-3p	HITS-CLIP	23313552
MIRT685599	hsa-miR-98-3p	HITS-CLIP	23313552
MIRT685598	hsa-miR-4684-5p	HITS-CLIP	23313552

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002074	Process	Extraocular skeletal muscle development	IEA
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	23414517
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0006936	Process	Muscle contraction	TAS	7505783
GO:0008307	Function	Structural constituent of muscle	TAS	7505783
GO:0019900	Function	Kinase binding	IPI	12972258
GO:0031430	Component	M band	IBA
GO:0031430	Component	M band	IEA
GO:0032982	Component	Myosin filament	IEA
GO:0045214	Process	Sarcomere organization	IBA
GO:0045214	Process	Sarcomere organization	IMP	33033063

Other IDs

• MIM: 603509
• HGNC: 7614
• e!Ensembl: ENSG00000036448

Protein

• UniProt ID: P54296
• Protein name: Myomesin-2 (165 kDa connectin-associated protein) (165 kDa titin-associated protein) (M-protein) (Myomesin family member 2)
• Protein function: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF07679	I-set	154 → 246	Immunoglobulin I-set domain	Domain
  PF07679	I-set	278 → 372	Immunoglobulin I-set domain	Domain
  PF00041	fn3	384 → 469	Fibronectin type III domain	Domain
  PF00041	fn3	512 → 597	Fibronectin type III domain	Domain
  PF00041	fn3	613 → 696	Fibronectin type III domain	Domain
  PF00041	fn3	712 → 797	Fibronectin type III domain	Domain
  PF00041	fn3	814 → 899	Fibronectin type III domain	Domain
  PF07679	I-set	1347 → 1435	Immunoglobulin I-set domain	Domain

• Sequence:

  MSLVTVPFYQKRHRHFDQSYRNIQTRYLLDEYASKKRASTQASSQKSLSQRSSSQRASSQ
  TSLGGTICRVCAKRVSTQEDEEQENRSRYQSLVAAYGEAKRQRFLSELAHLEEDVHLARS
  QARDKLDKYAIQQMMEDKLAWERHTFEERISRAPEILVRLRSHTVWERMSVKLCFTVQGF
  PTPVVQWYKDGSLICQAAEPGKYRIESNYGVHTLEINRADFDDTATYSAVATNAHGQVST
  NAAVVVRRFRGDEEPFRSVGLPIGLPLSSMIPYTHFDVQFLEKFGVTFRREGETVTLKCT
  MLVTPDLKRVQPRAEWYRDDVLLKESKWTKMFFGEGQASLSFSHLHKDDEGLYTLRIVSR
  GGVSDHSAFLFVRDADPLVTGAPGAPMDLQCHDANRDYVIVTWKPPNTTTESPVMGYFVD
  RCEVGTNNWVQCNDAPVKICKYPVTGLFEGRSYIFRVRAVNSAGISRPSRVSDAVAALDP
  LDLRRLQAVHLEGEKEIAIYQDDLEGDAQVPGPPTGVHASEISRNYVVLSWEPPTPRGKD
  PLMYFIEKSVVGSGSWQRVNAQTAVRSPRYAVFDLMEGKSYVFRVLSANRHGLSEPSEIT
  SPIQAQDVTVVPSAPGRVLASRNTKTSVVVQWDRPKHEEDLLGYYVDCCVAGTNLWEPCN
  HKPIGYNRFVVHGLTTGEQYIFRVKAVNAVGMSENSQESDVIKVQAALTVPSHPYGITLL
  NCDGHSMTLGWKVPKFSGGSPILGYYLDKREVHHKNWHEVNSSPSKPTILTVDGLTEGSL
  YEFKIAAVNLAGIGEPSDPSEHFKCEAWTMPEPGPAYDLTFCEVRDTSLVMLWKAPVYSG
  SSPVSGYFVDFREEDAGEWITVNQTTTANRYLKVSDLQQGKTYVFRVRAVNANGVGKPSD
  TSEPVLVEARPGTKEISAGVDEQGNIYLGFDCQEMTDASQFTWCKSYEEISDDERFKIET
  VGDHSKLYLKNPDKEDLGTYSVSVSDTDGVSSSFVLDPEELERLMALSNEIKNPTIPLKS
  ELAYEIFDKGRVRFWLQAEHLSPDASYRFIINDREVSDSEIHRIKCDKATGIIEMVMDRF
  SIENEGTYTVQIHDGKAKSQSSLVLIGDAFKTVLEEAEFQRKEFLRKQGPHFAEYLHWDV
  TEECEVRLVCKVANTKKETVFKWLKDDVLYETETLPNLERGICELLIPKLSKKDHGEYKA
  TLKDDRGQDVSILEIAGKVYDDMILAMSRVCGKSASPLKVLCTPEGIRLQCFMKYFTDEM
  KVNWCHKDAKISSSEHMRIGGSEEMAWLQICEPTEKDKGKYTFEIFDGKDNHQRSLDLSG
  QAFDEAFAEFQQFKAAAFAEKNRGRLIGGLPDVVTIMEGKTLNLTCTVFGNPDPEVIWFK
  NDQDIQLSEHFSVKVEQAKYVSMTIKGVTSEDSGKYSINIKNKYGGEKIDVTVSVYKHGE
  KIPDMAPPQQAKPKLIPASASAAGQ

• Sequence length: 1465

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Flexion contracture	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOM2-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Associate	36405736	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Associate	35853630	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Associate	31230720	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Associate	24835528	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	19110721	★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	17590445, 35568225	★☆☆☆☆ Found in Text Mining only
Croup	Associate	25187547	★☆☆☆☆ Found in Text Mining only
Cryofibrinogenemia	Stimulate	37734685	★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Associate	31857554	★☆☆☆☆ Found in Text Mining only
Epilepsy	Associate	33925474	★☆☆☆☆ Found in Text Mining only
Fibrosis	Associate	37239897	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Associate	34758154	★☆☆☆☆ Found in Text Mining only
Infections	Associate	8437226	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	11673534	★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Associate	28674366	★☆☆☆☆ Found in Text Mining only
Leukemia Plasma Cell	Associate	38332688	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Stimulate	10614712	★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Associate	25795522, 37734685	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	10911805, 16115129, 2297574, 27718532, 2790196, 28674366, 33079696, 3401594, 35938956, 38332688	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Stimulate	8329711	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	36735715	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	33281116	★☆☆☆☆ Found in Text Mining only
Pneumococcal Infections	Associate	22669958, 31666314	★☆☆☆☆ Found in Text Mining only
Proteinuria	Associate	9233573	★☆☆☆☆ Found in Text Mining only
Psoriasis	Associate	9201310	★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Associate	22669958	★☆☆☆☆ Found in Text Mining only
Retinitis	Associate	8722579	★☆☆☆☆ Found in Text Mining only
Smoldering Multiple Myeloma	Associate	16115129	★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Associate	31195969	★☆☆☆☆ Found in Text Mining only
Syndrome	Associate	34129019	★☆☆☆☆ Found in Text Mining only