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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4621
Gene name Gene Name - the full gene name approved by the HGNC.	Myosin heavy chain 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYH3
Synonyms (NCBI Gene) Gene synonyms aliases	CPSFS1A, CPSFS1B, CPSKF1A, CPSKF1B, DA2A, DA2B, DA2B3, DA8, HEMHC, MYHC-EMB, MYHSE1, SMHCE
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.	Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. This gene

Show/Hide all(36)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3216884	AA>-,A,AAA,AAAA	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs79952473	T>A,C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs121913617	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121913618	G>A	Pathogenic	Coding sequence variant, missense variant
rs121913619	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs121913620	A>T	Pathogenic	Coding sequence variant, missense variant
rs121913623	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs139480342	G>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs372079063	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs557849165	C>T	Pathogenic	Splice donor variant
rs771300756	AAATT>-	Uncertain-significance, pathogenic	Frameshift variant, coding sequence variant
rs796051884	T>G	Pathogenic	Missense variant, coding sequence variant
rs797045727	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs878853126	->ATT	Pathogenic	Inframe insertion, coding sequence variant
rs879255230	GAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs886042111	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518008	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064793203	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794980	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796483	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1350968647	C>T	Pathogenic	Splice donor variant
rs1555524879	ACTCACCACGGGAAACAGCACGGTCTGCCTGCCGCAGTCAGCACCTATCTCACTTACAGCCTCCTCCGCCTGCCTCTTGTAGGACTTGACTTTCACTTGCAGTTTATCCACCAGA>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1555525264	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555525941	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555527166	GAG>-	Likely-pathogenic, pathogenic	Inframe deletion, coding sequence variant
rs1567552713	C>T	Pathogenic	Splice donor variant
rs1567556169	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567557697	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567558314	CTGGGCATCTCTTGTGTACTTTATTTTGTAGTTACTCTTCAATGTGCCATATAGACTTCTATTTCTTCTCTACTAGACTACAAGCTCATCTGTTTTTTTCACCTGTATGTCTTGTACCTGGGAAACCTAAATATACACTTTGATGAGTGGCTATGCACTTTTTTTTTTCTTTT>-	Pathogenic	Intron variant
rs1567559027	T>C	Pathogenic	Coding sequence variant, missense variant
rs1567559562	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567560080	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1567564042	A>C	Pathogenic	Stop gained, coding sequence variant
rs1597482824	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1597488038	T>G	Pathogenic	Missense variant, coding sequence variant
rs1597490381	G>A	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IMP	16642020
GO:0000146	Function	Microfilament motor activity	NAS	1691980
GO:0000166	Function	Nucleotide binding	IEA
GO:0003009	Process	Skeletal muscle contraction	IMP	16642020
GO:0003774	Function	Cytoskeletal motor activity	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	NAS	16642020
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	16642020
GO:0006936	Process	Muscle contraction	IBA
GO:0007517	Process	Muscle organ development	TAS	2771643
GO:0016459	Component	Myosin complex	IEA
GO:0016460	Component	Myosin II complex	IBA
GO:0016887	Function	ATP hydrolysis activity	IMP	16642020
GO:0017018	Function	Myosin phosphatase activity	TAS
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	NAS	16642020
GO:0030048	Process	Actin filament-based movement	NAS	1691980
GO:0030049	Process	Muscle filament sliding	TAS
GO:0030326	Process	Embryonic limb morphogenesis	IC	16642020
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0045214	Process	Sarcomere organization	NAS	16642020
GO:0046034	Process	ATP metabolic process	IMP	16642020
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	IMP	16642020
GO:0060325	Process	Face morphogenesis	IC	16642020
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
160720	7573	ENSG00000109063

Protein

UniProt ID

P11055

Protein name

Myosin-3 (Muscle embryonic myosin heavy chain) (Myosin heavy chain 3) (Myosin heavy chain, fast skeletal muscle, embryonic) (SMHCE)

Protein function

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 → 767	Myosin head (motor domain)	Domain
PF01576	Myosin_tail_1	844 → 1925	Myosin tail	Coiled-coil

Tissue specificity

TISSUE SPECIFICITY: Expressed in fetal bone, thymus, placenta, heart, brain, and liver. {ECO:0000269|PubMed:25957469}.

Sequence

MSSDTEMEVFGIAAPFLRKSEKERIEAQNQPFDAKTYCFVVDSKEEYAKGKIKSSQDGKV
TVETEDNRTLVVKPEDVYAMNPPKFDRIEDMAMLTHLNEPAVLYNLKDRYTSWMIYTYSG
LFCVTVNPYKWLPVYNPEVVEGYRGKKRQEAPPHIFSISDNAYQFMLTDRENQSILITGE
SGAGKTVNTKRVIQYFATIAATGDLAKKKDSKMKGTLEDQIISANPLLEAFGNAKTVRND
NSSRFGKFIRIHFGTTGKLASADIETYLLEKSRVTFQLKAERSYHIFYQILSNKKPELIE
LLLITTNPYDYPFISQGEILVASIDDAEELLATDSAIDILGFTPEEKSGLYKLTGAVMHY
GNMKFKQKQREEQAEPDGTEVADKTAYLMGLNSSDLLKALCFPRVKVGNEYVTKGQTVDQ
VHHAVNALSKSVYEKLFLWMVTRINQQLDTKLPRQHFIGVLDIAGFEIFEYNSLEQLCIN
FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECM
FPKATDTSFKNKLYDQHLGKSNNFQKPKVVKGRAEAHFSLIHYAGTVDYSVSGWLEKNKD
PLNETVVGLYQKSSNRLLAHLYATFATADADSGKKKVAKKKGSSFQTVSALFRENLNKLM
SNLRTTHPHFVRCIIPNETKTPGAMEHSLVLHQLRCNGVLEGIRICRKGFPNRILYGDFK
QRYRVLNASAIPEGQFIDSKKACEKLLASIDIDHTQYKFGHTKVFFKAGLLGTLEEMRDD
RLAKLITRTQAVCRGFLMRVEFQKMVQRRESIFCIQYNIRSFMNVKHWPWMKLFFKIKPL
LKSAETEKEMATMKEEFQKTKDELAKSEAKRKELEEKLVTLVQEKNDLQLQVQAESENLL
DAEERCDQLIKAKFQLEAKIKEVTERAEDEEEINAELTAKKRKLEDECSELKKDIDDLEL
TLAKVEKEKHATENKVKNLTEELSGLDETIAKLTREKKALQEAHQQALDDLQAEEDKVNS
LNKTKSKLEQQVEDLESSLEQEKKLRVDLERNKRKLEGDLKLAQESILDLENDKQQLDER
LKKKDFEYCQLQSKVEDEQTLGLQFQKKIKELQARIEELEEEIEAERATRAKTEKQRSDY
ARELEELSERLEEAGGVTSTQIELNKKREAEFLKLRRDLEEATLQHEAMVAALRKKHADS
VAELGEQIDNLQRVKQKLEKEKSEFKLEIDDLSSSMESVSKSKANLEKICRTLEDQLSEA
RGKNEEIQRSLSELTTQKSRLQTEAGELSRQLEEKESIVSQLSRSKQAFTQQTEELKRQL
EEENKAKNALAHALQSSRHDCDLLREQYEEEQEGKAELQRALSKANSEVAQWRTKYETDA
IQRTEELEEAKKKLAQRLQDSEEQVEAVNAKCASLEKTKQRLQGEVEDLMVDVERANSLA
AALDKKQRNFDKVLAEWKTKCEESQAELEASLKESRSLSTELFKLKNAYEEALDQLETVK
RENKNLEQEIADLTEQIAENGKTIHELEKSRKQIELEKADIQLALEEAEAALEHEEAKIL
RIQLELTQVKSEIDRKIAEKDEEIEQLKRNYQRTVETMQSALDAEVRSRNEAIRLKKKME
GDLNEIEIQLSHANRQAAETLKHLRSVQGQLKDTQLHLDDALRGQEDLKEQLAIVERRAN
LLQAEVEELRATLEQTERARKLAEQELLDSNERVQLLHTQNTSLIHTKKKLETDLMQLQS
EVEDASRDARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNLEQTVKDLQHRLDE
AEQLALKGGKKQIQKLETRIRELEFELEGEQKKNTESVKGLRKYERRVKELTYQSEEDRK
NVLRLQDLVDKLQVKVKSYKRQAEEADEQANAHLTKFRKAQHELEEAEERADIAESQVNK
LRAKTRDFTSSRMVVHESEE

Sequence length

1940

Interactions

View interactions

	KEGG		Reactome
	Motor proteins Cytoskeleton in muscle cells		Striated Muscle Contraction

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Distal arthrogryposis	Arthrogryposis, distal, type 2B3	rs1597490381, rs121913619, rs1597482824, rs879255230, rs1350968647, rs1567559027	N/A
Freeman-Sheldon Syndrome	freeman-sheldon syndrome	rs121913619, rs121913620, rs797045727, rs121913617, rs121913618, rs1597488038	N/A
Spondylocarpotarsal Synostosis Syndrome	spondylocarpotarsal synostosis syndrome	rs1555527166, rs1567556169, rs1567557697	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
arthrogryposis multiplex congenita	Arthrogryposis multiplex congenita	N/A	N/A	ClinVar
Digitotalar Dysmorphism	digitotalar dysmorphism	N/A	N/A	GenCC
Meniere Disease	meniere disease	N/A	N/A	ClinVar
Multiple Pterygium Syndrome	autosomal recessive multiple pterygium syndrome	N/A	N/A	GenCC
Sheldon-Hall Syndrome	Sheldon-hall syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthrogryposis	Associate	32767732
Arthrogryposis multiplex congenita distal type 1	Associate	17103435, 19142688, 21531865, 21834041, 27381093, 32767732
Carotid Body Tumor	Associate	30967136
Chromosome Aberrations	Associate	25957469
Clubfoot	Associate	20357587, 21834041
Colonic Neoplasms	Associate	37524774
Congenital Abnormalities	Associate	38275606
Contracture	Associate	20357587, 21834041, 32767732, 38275606
Distal arthrogryposis type 2B	Associate	19142688, 21531865, 25957469
Facial Asymmetry	Associate	38275606
Foot Deformities	Associate	38275606
Freeman Sheldon syndrome	Associate	19142688, 21531865, 23819870, 25683120, 25740846
Fused Kidney	Associate	28205584
Haspeslagh Fryns Muelenaere syndrome	Associate	32767732
Head and Neck Neoplasms	Associate	39684472
Heart Septal Defects Atrial	Associate	32315303
Klippel Feil Syndrome	Associate	25957469
Multiple pterygium syndrome	Associate	25957469, 27381093, 34440395
Multiple Pterygium Syndrome Autosomal Dominant	Associate	28205584, 32767732
Muscular Diseases	Associate	26544689
Musculoskeletal Abnormalities	Associate	28779239
Neoplasms	Associate	37524774
Neuromuscular Diseases	Associate	26578207
Osteogenesis imperfecta type 2B	Associate	21531865
Pneumonia of Calves Enzootic	Associate	38275606
Pulmonary Disease Chronic Obstructive	Associate	30111857
Scoliosis	Associate	34440395, 38275606
Spondylocarpotarsal synostosis	Associate	27381093, 28205584, 29805041

MYH3 (myosin heavy chain 3)