MYH8 (myosin heavy chain 8)

Gene

• Entrez ID: 4626
• Gene name: Myosin heavy chain 8
• Gene symbol: MYH8
• Synonyms (NCBI Gene): DA7, MyHC-peri, MyHC-pn, gtMHC-F
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IMP	17041932
GO:0000166	Function	Nucleotide binding	IEA
GO:0003009	Process	Skeletal muscle contraction	IMP	17041932
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	IMP	17041932
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	21370490
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	NAS	2715179
GO:0006936	Process	Muscle contraction	IBA
GO:0006936	Process	Muscle contraction	NAS	2715179
GO:0008307	Function	Structural constituent of muscle	NAS	2715179
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0016887	Function	ATP hydrolysis activity	IMP	17041932
GO:0017018	Function	Myosin phosphatase activity	TAS
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	IC	17041932
GO:0030049	Process	Muscle filament sliding	IMP	17041932
GO:0030049	Process	Muscle filament sliding	TAS
GO:0032027	Function	Myosin light chain binding	TAS	2373371
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IC	17041932
GO:0032982	Component	Myosin filament	IEA
GO:0046034	Process	ATP metabolic process	IMP	17041932
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	TAS	2373371

Other IDs

• MIM: 160741
• HGNC: 7578
• e!Ensembl: ENSG00000133020

Protein

• UniProt ID: P13535
• Protein name: Myosin-8 (Myosin heavy chain 8) (Myosin heavy chain, skeletal muscle, perinatal) (MyHC-perinatal)
• Protein function: Muscle contraction.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02736	Myosin_N	37 → 76	Myosin N-terminal SH3-like domain	Domain
  PF00063	Myosin_head	90 → 769	Myosin head (motor domain)	Domain
  PF01576	Myosin_tail_1	846 → 1927	Myosin tail	Coiled-coil

• Sequence:

  MSASSDAEMAVFGEAAPYLRKSEKERIEAQNKPFDAKTSVFVAEPKESYVKSTIQSKEGG
  KVTVKTEGGATLTVREDQVFPMNPPKYDKIEDMAMMTHLHEPGVLYNLKERYAAWMIYTY
  SGLFCVTVNPYKWLPVYKPEVVAAYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILIT
  GESGAGKTVNTKRVIQYFATIAVTGEKKKDESGKMQGTLEDQIISANPLLEAFGNAKTVR
  NDNSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQITSNKKPDL
  IEMLLITTNPYDYAFVSQGEITVPSIDDQEELMATDSAIDILGFTPEEKVSIYKLTGAVM
  HYGNMKFKQKQREEQAEPDGTEVADKAAYLQSLNSADLLKALCYPRVKVGNEYVTKGQTV
  QQVYNAVGALAKAVYEKMFLWMVTRINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLC
  INFTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPLGIFSILEEE
  CMFPKATDTSFKNKLYDQHLGKSANFQKPKVVKGKAEAHFSLIHYAGTVDYNITGWLDKN
  KDPLNDTVVGLYQKSAMKTLASLFSTYASAEADSSAKKGAKKKGSSFQTVSALFRENLNK
  LMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYGD
  FKQRYKVLNASAIPEGQFIDSKKASEKLLASIDIDHTQYKFGHTKVFFKAGLLGLLEEMR
  DEKLAQIITRTQAVCRGFLMRVEYQKMLQRREALFCIQYNVRAFMNVKHWPWMKLFFKIK
  PLLKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQSEADS
  LADAEERCEQLIKNKIQLEAKIKEVTERAEEEEEINAELTAKKRKLEDECSELKKDIDDL
  ELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLSKEKKALQETHQQTLDDLQAEEDKV
  NILTKAKTKLEQQVDDLEGSLEQEKKLRMDLERAKRKLEGDLKLAQESTMDMENDKQQLD
  EKLEKKEFEISNLISKIEDEQAVEIQLQKKIKELQARIEELGEEIEAERASRAKAEKQRS
  DLSRELEEISERLEEAGGATSAQVELNKKREAEFQKLRRDLEEATLQHEAMVAALRKKHA
  DSMAELGEQIDNLQRVKQKLEKEKSELKMETDDLSSNAEAISKAKGNLEKMCRSLEDQVS
  ELKTKEEEQQRLINDLTAQRARLQTEAGEYSRQLDEKDALVSQLSRSKQASTQQIEELKH
  QLEEETKAKNALAHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYET
  DAIQRTEELEEAKKKLAQRLQEAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVERSNA
  ACAALDKKQRNFDKVLSEWKQKYEETQAELEASQKESRSLSTELFKVKNVYEESLDQLET
  LRRENKNLQQEISDLTEQIAEGGKQIHELEKIKKQVEQEKCEIQAALEEAEASLEHEEGK
  ILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHTRVVETMQSTLDAEIRSRNDALRVKKK
  MEGDLNEMEIQLNHANRLAAESLRNYRNTQGILKETQLHLDDALRGQEDLKEQLAIVERR
  ANLLQAEIEELWATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLENDVSQL
  QSEVEEVIQESRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRL
  DEAEQLALKGGKKQIQKLEARVRELEGEVENEQKRNAEAVKGLRKHERRVKELTYQTEED
  RKNVLRLQDLVDKLQAKVKSYKRQAEEAEEQSNANLSKFRKLQHELEEAEERADIAESQV
  NKLRVKSREVHTKISAE

• Sequence length: 1937

Pathways

KEGG:

Motor proteins
Cytoskeleton in muscle cells

Reactome:

Striated Muscle Contraction

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Carney complex - trismus - pseudocamptodactyly syndrome	Pathogenic	rs121434590	RCV000015197	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hecht syndrome	Pathogenic	rs121434590	RCV000015198	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ARTHROGRYPOSIS MULTIPLEX CONGENITA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis, distal, type 1A	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHROGRYPOSIS, DISTAL, TYPE 7	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNEY COMPLEX VARIANT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNEY COMPLEX, TRISMUS, PSEUDOCAMPTODACTYLY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary skeletal muscle disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYH8-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	31430364		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	15282353		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	LHGDN	15282353		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial myxoma familial	Atrial myxoma	Pubtator	15282353	Associate	★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	30947698	Associate	★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	26999347		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	15282353	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney complex	Pubtator	15282353	Associate	★☆☆☆☆ Found in Text Mining only
Carney Complex Variant	Carney Complex	UNIPROT_DG	15282353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carney Complex Variant	Carney Complex	ORPHANET_DG	15282353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carney Complex Variant	Carney Complex	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carney Complex Variant	Carney Complex	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carney Complex Variant	Carney Complex	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carney complex-trismus-pseudocamptodactyly syndrome	Carney complex variant	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Class III malocclusion	Malocclusion	BEFREE	20673635		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	20357587, 21834041	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	BEFREE	21834041		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	15992699, 21834041		★☆☆☆☆ Found in Text Mining only
Congenital retrognathism	Congenital Retrognathism	BEFREE	20673635		★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	20357587, 21834041	Associate	★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing syndrome	Pubtator	33109698	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous syndactyly of toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	BEFREE	15282353, 21834041, 23413262		★☆☆☆☆ Found in Text Mining only
Distal arthrogryposis syndrome	Distal arthrogryposis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	32308057	Associate	★☆☆☆☆ Found in Text Mining only
Hecht syndrome	Hecht syndrome	Pubtator	15282353	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hecht syndrome (disorder)	Hecht syndrome	UNIPROT_DG	15282353, 20949528		★☆☆☆☆ Found in Text Mining only
Hecht syndrome (disorder)	Hecht syndrome	BEFREE	17041932, 23413262, 28377322		★☆☆☆☆ Found in Text Mining only
Hecht syndrome (disorder)	Hecht syndrome	GENOMICS_ENGLAND_DG	17041932, 8923935		★☆☆☆☆ Found in Text Mining only
Hecht syndrome (disorder)	Hecht syndrome	ORPHANET_DG	17041932, 18049072		★☆☆☆☆ Found in Text Mining only
Hecht syndrome (disorder)	Hecht syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hecht syndrome (disorder)	Hecht syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	31430364		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	31430364		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	26999347		★☆☆☆☆ Found in Text Mining only
Myxoma	Myxoma	LHGDN	15282353		★☆☆☆☆ Found in Text Mining only
Myxoma of heart	Myxoma Of Heart	BEFREE	15282353		★☆☆☆☆ Found in Text Mining only
Myxoma of heart	Myxoma Of Heart	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myxoma of the Endocardium	Myxoma Of The Endocardium	BEFREE	15282353		★☆☆☆☆ Found in Text Mining only
Myxoma of the Endocardium	Myxoma Of The Endocardium	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25305228		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	32308057	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32348865	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcopenia	Sarcopenia	Pubtator	38229116	Stimulate	★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trismus-pseudocamptodactyly syndrome	Trismus-Pseudocamptodactyly Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations