Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4620
Gene name	Myosin heavy chain 2
Gene symbol	MYH2
Synonyms (NCBI Gene)	CMYO6CMYP6IBM3MYH2AMYHSA2MYHas8MYPOPMyHC-2AMyHC-IIa
Chromosome	17
Chromosome location	17p13.1
Summary	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

Show/Hide all (79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006908	hsa-miR-23a-3p	Luciferase reporter assayqRT-PCRWestern blot	22771720
MIRT048977	hsa-miR-92a-3p	CLASH	23622248
MIRT048977	hsa-miR-92a-3p	CLASH	23622248
MIRT544869	hsa-miR-4773	PAR-CLIP	20371350
MIRT544868	hsa-miR-576-3p	PAR-CLIP	20371350
MIRT544867	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT544866	hsa-miR-6750-5p	PAR-CLIP	20371350
MIRT544865	hsa-miR-6822-5p	PAR-CLIP	20371350
MIRT544864	hsa-miR-9500	PAR-CLIP	20371350
MIRT544863	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT544862	hsa-miR-3179	PAR-CLIP	20371350
MIRT544861	hsa-miR-3166	PAR-CLIP	20371350
MIRT544860	hsa-miR-4771	PAR-CLIP	20371350
MIRT544859	hsa-miR-3202	PAR-CLIP	20371350
MIRT544857	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT544858	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT544856	hsa-miR-3175	PAR-CLIP	20371350
MIRT544855	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT544854	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT544853	hsa-miR-1258	PAR-CLIP	20371350
MIRT544852	hsa-miR-3162-5p	PAR-CLIP	20371350
MIRT544851	hsa-miR-1273h-3p	PAR-CLIP	20371350
MIRT544869	hsa-miR-4773	PAR-CLIP	21572407
MIRT544868	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT544867	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT544866	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT544865	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT544864	hsa-miR-9500	PAR-CLIP	21572407
MIRT544863	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT544862	hsa-miR-3179	PAR-CLIP	21572407
MIRT544861	hsa-miR-3166	PAR-CLIP	21572407
MIRT544860	hsa-miR-4771	PAR-CLIP	21572407
MIRT544859	hsa-miR-3202	PAR-CLIP	21572407
MIRT544857	hsa-miR-4747-5p	PAR-CLIP	21572407
MIRT544858	hsa-miR-5196-5p	PAR-CLIP	21572407
MIRT544856	hsa-miR-3175	PAR-CLIP	21572407
MIRT544855	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT544854	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT544853	hsa-miR-1258	PAR-CLIP	21572407
MIRT544852	hsa-miR-3162-5p	PAR-CLIP	21572407
MIRT544851	hsa-miR-1273h-3p	PAR-CLIP	21572407
MIRT544869	hsa-miR-4773	PAR-CLIP	20371350
MIRT544868	hsa-miR-576-3p	PAR-CLIP	20371350
MIRT544867	hsa-miR-5584-5p	PAR-CLIP	20371350
MIRT544866	hsa-miR-6750-5p	PAR-CLIP	20371350
MIRT544865	hsa-miR-6822-5p	PAR-CLIP	20371350
MIRT544864	hsa-miR-9500	PAR-CLIP	20371350
MIRT544863	hsa-miR-873-5p	PAR-CLIP	20371350
MIRT544862	hsa-miR-3179	PAR-CLIP	20371350
MIRT544861	hsa-miR-3166	PAR-CLIP	20371350
MIRT544860	hsa-miR-4771	PAR-CLIP	20371350
MIRT544859	hsa-miR-3202	PAR-CLIP	20371350
MIRT544857	hsa-miR-4747-5p	PAR-CLIP	20371350
MIRT544858	hsa-miR-5196-5p	PAR-CLIP	20371350
MIRT544856	hsa-miR-3175	PAR-CLIP	20371350
MIRT544855	hsa-miR-3944-5p	PAR-CLIP	20371350
MIRT544854	hsa-miR-143-5p	PAR-CLIP	20371350
MIRT544853	hsa-miR-1258	PAR-CLIP	20371350
MIRT544852	hsa-miR-3162-5p	PAR-CLIP	20371350
MIRT544851	hsa-miR-1273h-3p	PAR-CLIP	20371350
MIRT544869	hsa-miR-4773	PAR-CLIP	21572407
MIRT544868	hsa-miR-576-3p	PAR-CLIP	21572407
MIRT544867	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT544866	hsa-miR-6750-5p	PAR-CLIP	21572407
MIRT544865	hsa-miR-6822-5p	PAR-CLIP	21572407
MIRT544864	hsa-miR-9500	PAR-CLIP	21572407
MIRT544863	hsa-miR-873-5p	PAR-CLIP	21572407
MIRT544862	hsa-miR-3179	PAR-CLIP	21572407
MIRT544861	hsa-miR-3166	PAR-CLIP	21572407
MIRT544860	hsa-miR-4771	PAR-CLIP	21572407
MIRT544859	hsa-miR-3202	PAR-CLIP	21572407
MIRT544857	hsa-miR-4747-5p	PAR-CLIP	21572407
MIRT544858	hsa-miR-5196-5p	PAR-CLIP	21572407
MIRT544856	hsa-miR-3175	PAR-CLIP	21572407
MIRT544855	hsa-miR-3944-5p	PAR-CLIP	21572407
MIRT544854	hsa-miR-143-5p	PAR-CLIP	21572407
MIRT544853	hsa-miR-1258	PAR-CLIP	21572407
MIRT544852	hsa-miR-3162-5p	PAR-CLIP	21572407
MIRT544851	hsa-miR-1273h-3p	PAR-CLIP	21572407

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	TAS	10388558
GO:0000166	Function	Nucleotide binding	IEA
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	17823310
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	NAS	3904738
GO:0005859	Component	Muscle myosin complex	TAS	10388558
GO:0005911	Component	Cell-cell junction	IMP	25753039
GO:0006936	Process	Muscle contraction	IBA
GO:0006936	Process	Muscle contraction	IDA	8145163
GO:0006936	Process	Muscle contraction	TAS	10388558
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0016460	Component	Myosin II complex	IEA
GO:0030016	Component	Myofibril	IDA	8145163
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	NAS	3904738
GO:0030049	Process	Muscle filament sliding	NAS	3904738
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0032991	Component	Protein-containing complex	IDA
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0099512	Component	Supramolecular fiber	IEA

MIM	HGNC	e!Ensembl
160740	7572	ENSG00000125414

Q9UKX2

Protein 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)

Protein function

Myosins are actin-based motor molecules with ATPase activity essential for muscle contraction.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02736	Myosin_N	35 → 74	Myosin N-terminal SH3-like domain	Domain
PF00063	Myosin_head	88 → 772	Myosin head (motor domain)	Domain
PF01576	Myosin_tail_1	849 → 1930	Myosin tail	Coiled-coil

Sequence

MSSDSELAVFGEAAPFLRKSERERIEAQNRPFDAKTSVFVAEPKESFVKGTIQSREGGKV
TVKTEGGATLTVKDDQVFPMNPPKYDKIEDMAMMTHLHEPAVLYNLKERYAAWMIYTYSG
LFCVTVNPYKWLPVYKPEVVTAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGE
SGAGKTVNTKRVIQYFATIAVTGEKKKEEITSGKIQGTLEDQIISANPLLEAFGNAKTVR
NDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVVFQLKAERSYHIFYQITSNKKPEL
IEMLLITTNPYDYPFVSQGEISVASIDDQEELMATDSAIDILGFTNEEKVSIYKLTGAVM
HYGNLKFKQKQREEQAEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTV
EQVSNAVGALAKAVYEKMFLWMVARINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLC
INFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEE
CMFPKATDTSFKNKLYDQHLGKSANFQKPKVVKGKAEAHFALIHYAGVVDYNITGWLEKN
KDPLNETVVGLYQKSAMKTLAQLFSGAQTAEGEGAGGGAKKGGKKKGSSFQTVSALFREN
LNKLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRIL
YADFKQRYKVLNASAIPEGQFIDSKKASEKLLASIDIDHTQYKFGHTKVFFKAGLLGLLE
EMRDDKLAQLITRTQARCRGFLARVEYQRMVERREAIFCIQYNIRSFMNVKHWPWMKLFF
KIKPLLKSAETEKEMATMKEEFQKIKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQAE
AEGLADAEERCDQLIKTKIQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDI
DDLELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEE
DKVNTLTKAKIKLEQQVDDLEGSLEQEKKLRMDLERAKRKLEGDLKLAQESIMDIENEKQ
QLDEKLKKKEFEISNLQSKIEDEQALGIQLQKKIKELQARIEELEEEIEAERASRAKAEK
QRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRK
KHADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNVETVSKAKGNLEKMCRTLED
QLSELKSKEEEQQRLINDLTAQRGRLQTESGEFSRQLDEKEALVSQLSRGKQAFTQQIEE
LKRQLEEEIKAKNALAHALQSSRHDCDLLREQYEEEQESKAELQRALSKANTEVAQWRTK
YETDAIQRTEELEEAKKKLAQRLQAAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVER
TNAACAALDKKQRNFDKILAEWKQKCEETHAELEASQKEARSLGTELFKIKNAYEESLDQ
LETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKCELQAALEEAEASLEHE
EGKILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHIRIVESMQSTLDAEIRSRNDAIRL
KKKMEGDLNEMEIQLNHANRMAAEALRNYRNTQGILKDTQIHLDDALRSQEDLKEQLAMV
ERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDI
SQMQGEMEDILQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTVKDLQ
LRLDEAEQLALKGGKKQIQKLEARVRELEGEVESEQKRNAEAVKGLRKHERRVKELTYQT
EEDRKNILRLQDLVDKLQAKVKSYKRQAEEAEEQSNTNLAKFRKLQHELEEAEERADIAE
SQVNKLRVKSREVHTKVISEE

Sequence length

1941

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Cytoskeleton in muscle cells		Regulation of actin dynamics for phagocytic cup formation FCGR3A-mediated phagocytosis

1288

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	Likely pathogenic	rs781504304	RCV001195539
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	Likely pathogenic; Pathogenic	rs904850136	RCV002466824
MYH2-related disorder	Pathogenic; Likely pathogenic	rs2508409130, rs929311433, rs1400481053	RCV004550571 RCV004547865 RCV003336184
Myopathy, proximal, and ophthalmoplegia	Likely pathogenic; Pathogenic	rs567336764, rs201790813, rs2142293598, rs2142303605, rs2142309612, rs2142289928, rs1226690028, rs2142293525, rs2142299866, rs2142297044, rs2142305562, rs2073330917, rs1250462450, rs2142290339, rs769712128 View all (60 more)	RCV001330753 RCV001377134 RCV001380185 RCV001385652 RCV001563619 RCV001733833 RCV001784688 RCV001998574 RCV001906229 RCV001882016 RCV001971478 RCV001921403 RCV002002348 RCV001978587 RCV002035416 RCV002016047 RCV001893891 RCV002009412 RCV001879328 RCV001953696 RCV002010003 RCV002287227 RCV000162317 RCV000162318 RCV000162319 RCV000162320 RCV000162321 RCV000162322 RCV000162323 RCV002569353 RCV003071663 RCV003080507 RCV003090460 RCV003100669 RCV003118810 RCV002775745 RCV000190605 RCV002862370 RCV002866978 RCV002790015 RCV003144093 RCV003148181 RCV003314506 RCV003514636 RCV003405057 RCV003515330 RCV000015199 RCV003630109 RCV003630210 RCV003630376 RCV003630575 RCV003630695 RCV003630891 RCV003629735 RCV003845946 RCV003874038 RCV003875323 RCV000405820 RCV005869410 RCV001377614 RCV000545497 RCV000702039 RCV000699454 RCV000699353 RCV000696387 RCV000701025 RCV000706098 RCV000766225 RCV000787958 RCV000806758 RCV000804765 RCV001051710 RCV001048670 RCV001238200 RCV001218727 RCV001233149

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Inclusion Body Myopathy, Dominant	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs11078850, rs139621607, rs375199452, rs376738763, rs377674160, rs769463886, rs573872374, rs200217946, rs141764966, rs150566222, rs201784718, rs886052569, rs116419997, rs886052571, rs886052573 View all (19 more)	RCV000354660 RCV000364965 RCV000321433 RCV000262872 RCV000318073 RCV000392688 RCV000308055 RCV000405248 RCV000301287 RCV000356085 RCV000261499 RCV000327358 RCV000392932 RCV000392945 RCV000315091 RCV000369807 RCV000372759 RCV000387277 RCV000292996 RCV000316767 RCV000343336 RCV000273767 RCV000328779 RCV000270189 RCV000325429 RCV000371251 RCV000288400 RCV000361428 RCV000266357 RCV000352017 RCV000347813 RCV000291044 RCV000299993 RCV000285665
Limb-girdle muscular dystrophy	Uncertain significance	rs2073467818	RCV005626396
Muscular dystrophy	Uncertain significance	rs974071552	RCV000850081
MYH2-related myopathy	Uncertain significance	rs1567731278	RCV000709832

Show/Hide Text Mining Associations (34)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Amyotrophic Lateral Sclerosis	Associate	32792518
Carcinoma Hepatocellular	Associate	22272636
Cerebral Palsy	Associate	21882064
Clubfoot	Associate	20357587
Colorectal Neoplasms	Associate	32351322
Continuous Muscle Fiber Activity Hereditary	Associate	22349865
Contracture	Associate	20357587
Cryptorchidism	Inhibit	22906643
Cystinosis	Associate	30519981
Deglutition Disorders	Associate	23489661
Distal Myopathies	Associate	25529940
Distal myopathy Nonaka type	Associate	29934118
Frontotemporal Dementia	Associate	32792518
Hodgkin Disease	Associate	33885377
Inflammation	Associate	32986378
Muscle Weakness	Associate	17005402, 24193343, 29934118, 32578970, 33926564, 36380287
Muscular Diseases	Associate	17005402, 23489661, 24193343, 25529940, 29934118, 32578970, 33926564, 36380287, 36745529, 37457373, 39372444
Myopathies Nemaline	Associate	33926564
Myopathies Structural Congenital	Associate	32578970
Myopathy Myosin Storage	Associate	23489661, 24193343, 36380287
Myositis Inclusion Body	Associate	22349865
Myotonia Congenita	Associate	23489661, 25529940, 33926564
Nasopharyngeal Carcinoma	Associate	32986378
Nasopharyngitis	Associate	32986378
Neoplasms	Associate	37340028, 39656775
Oculopharyngodistal Myopathy	Associate	25529940
Ophthalmoplegia	Associate	23489661, 24193343, 25529940, 29934118, 32578970, 33926564
Osteoarthritis	Inhibit	25810256
Osteogenesis imperfecta type 2A	Associate	24193343
Ptosis Hereditary Congenital 2	Associate	32578970
Respiratory Distress Syndrome	Associate	23489661
Squamous Cell Carcinoma of Head and Neck	Associate	37340028, 37679666
Systemic Inflammatory Response Syndrome	Associate	31016887
Tremor	Associate	39372444

MYH2 (myosin heavy chain 2)