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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4621
Gene name	Myosin heavy chain 3
Gene symbol	MYH3
Synonyms (NCBI Gene)	CPSFS1ACPSFS1BCPSKF1ACPSKF1BDA2ADA2BDA2B3DA8HEMHCMYHC-EMBMYHSE1SMHCE
Chromosome	17
Chromosome location	17p13.1
Summary	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

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

784

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis, distal, type 2B3	Likely pathogenic; Pathogenic	rs2142404938, rs2508635033, rs121913617, rs121913619, rs879255230, rs1350968647, rs1567559027, rs1597488038, rs1597490381, rs1597482824	RCV001801254 RCV003319957 RCV004795413 RCV000778060 RCV000015205 RCV001199085 RCV000778061 RCV004796332 RCV000855700 RCV001027991
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A	Pathogenic; Likely pathogenic	rs763239874, rs1597483539, rs796051884, rs1555527166, rs878853126, rs2508635033, rs121913617, rs1567552713, rs1350968647, rs1567558314, rs1567564042, rs557849165, rs1567559562, rs1567560080, rs1597488038	RCV003988877 RCV002287638 RCV000185627 RCV000185628 RCV000224820 RCV003319957 RCV004795413 RCV000714982 RCV000714983 RCV000714986 RCV000714984 RCV000714988 RCV000785644 RCV000785646 RCV004796332
Contractures, pterygia, and variable skeletal fusions syndrome 1B	Pathogenic; Likely pathogenic	rs2142400070, rs2142401800, rs2142402072, rs1597483539, rs121913617, rs1567552713, rs1567564042, rs557849165, rs1597488038	RCV001533166 RCV001728089 RCV001728090 RCV003314724 RCV004795413 RCV000785648 RCV000785649 RCV000785651 RCV004796332
Distal arthrogryposis	Likely pathogenic	rs2142413600, rs2074256645	RCV002226959 RCV001289472
Freeman-Sheldon syndrome	Likely pathogenic; Pathogenic	rs1175557352, rs797045727, rs2508596395, rs2508635033, rs2508605867, rs121913617, rs121913618, rs121913619, rs121913620, rs1597488038	RCV004783995 RCV000193979 RCV003219199 RCV003319957 RCV003327318 RCV000015200 RCV000015201 RCV000015202 RCV000015204 RCV000855702
MYH3-related disorder	Likely pathogenic; Pathogenic	rs2142381440, rs2142388822, rs2142390113, rs2142395080, rs2142398204, rs2142407941, rs150951216, rs2142413627, rs1175557352, rs766768674, rs2508601282, rs2508613715, rs1483000577, rs121913619, rs2508578544, rs1277847755, rs557849165 View all (2 more)	RCV001375883 RCV001375879 RCV001375882 RCV001375877 RCV001375878 RCV001375876 RCV001375881 RCV001375875 RCV002509712 RCV002307790 RCV004733562 RCV004529756 RCV004534421 RCV001849265 RCV004723390 RCV003988206 RCV002509523
See cases	Likely pathogenic	rs990374215	RCV002253100
Spondylocarpotarsal fusion syndrome 1A	Pathogenic	rs1597488212	RCV001375855
Spondylocarpotarsal synostosis syndrome	Likely pathogenic; Pathogenic	rs1555527166, rs2508577759, rs1567552713, rs1350968647, rs1567558314, rs1567564042, rs557849165, rs1567556169, rs1567557697	RCV000755065 RCV003994707 RCV000714982 RCV000714983 RCV000714986 RCV000714984 RCV000714988 RCV000755066 RCV000755064

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1567560725	-
Acute myeloid leukemia	Benign	rs73974805	RCV005914756
Arthrogryposis multiplex congenita	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs539272823, rs397750512, rs761191751, rs3216884, rs143396252	RCV002269802 RCV000262470 RCV000321242 RCV000280921 RCV000383403 RCV000385731
Arthrogryposis, distal, type 1A	Uncertain significance	rs1567553702	RCV000714841
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs34165480	RCV005892331
Distal arthrogryposis type 2B1	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs56259391, rs876657, rs2285469, rs56163389, rs2285472, rs2285474, rs34088014, rs61735353, rs2285475, rs201626, rs2285477, rs77946261, rs35230241, rs112569418, rs58343499 View all (143 more)	RCV000315659 RCV000324188 RCV000282605 RCV000372420 RCV000277869 RCV000400223 RCV000286876 RCV000345534 RCV000385658 RCV000355718 RCV000317596 RCV000403869 RCV000374471 RCV000362862 RCV000329177 RCV000285592 RCV000262367 RCV000372526 RCV000383786 RCV000319799 RCV001117810 RCV000318888 RCV001127113 RCV000274116 RCV000342861 RCV001117916 RCV001118121 RCV001116775 RCV001116777 RCV000338533 RCV000370100 RCV000368989 RCV000321277 RCV000358966 RCV000274255 RCV001124054 RCV000313870 RCV000324124 RCV000351127 RCV000762979 RCV000391285 RCV000391289 RCV000364051 RCV000308448 RCV000367052 RCV000402116 RCV000352771 RCV000364302 RCV000267366 RCV000358491 RCV000349054 RCV000290554 RCV000304305 RCV000262758 RCV000276135 RCV000269958 RCV000341190 RCV000399469 RCV000358206 RCV000323151 RCV000374582 RCV000281624 RCV000309405 RCV000351710 RCV000391671 RCV000353731 RCV000261237 RCV000284455 RCV000296509 RCV000327690 RCV000384523 RCV000286043 RCV000292784 RCV000392905 RCV000299992 RCV000400955 RCV000389734 RCV000305684 RCV000391675 RCV000325190 RCV000402677 RCV000322172 RCV000392230 RCV000342785 RCV000324912 RCV000352314 RCV000308272 RCV000407611 RCV000398684 RCV000347491 RCV000324997 RCV000342344 RCV000407247 RCV000269402 RCV000378740 RCV000365909 RCV000303165 RCV000376097 RCV000312414 RCV000387553 RCV000297334 RCV000323441 RCV000361584 RCV000263580 RCV000367421 RCV000374953 RCV000280400 RCV000343738 RCV000289900 RCV000625795 RCV000714840 RCV001117706 RCV001116358 RCV001119375 RCV001121464 RCV001121466 RCV001119658 RCV001124056 RCV001126824 RCV001124147 RCV001116355 RCV001119271 RCV001121273 RCV001121276 RCV001116360 RCV001117804 RCV001117808 RCV001119377 RCV001119378 RCV001116457 RCV001116460 RCV001116462 RCV001116464 RCV001117919 RCV001119464 RCV001116569 RCV001116571 RCV001118021 RCV001119561 RCV001116675 RCV001116677 RCV001118118 RCV001119660 RCV001119663 RCV001121180 RCV001117806 RCV001126502 RCV001128565 RCV001122871 RCV001127019 RCV001122988 RCV001126711 RCV001124149 RCV001124151 RCV001127223 RCV001127225 RCV001127228 RCV001123160 RCV001124152
Gastric cancer	Benign; Conflicting classifications of pathogenicity	rs73974805, rs147304568	RCV005914757 RCV005894575
Hepatocellular carcinoma	Benign; Conflicting classifications of pathogenicity	rs2285476, rs34165480	RCV005925175 RCV005892330
Lung cancer	Benign; Conflicting classifications of pathogenicity	rs73974805, rs34165480	RCV005914760 RCV005892334
Malignant tumor of urinary bladder	Uncertain significance	rs2074282995	RCV005931564
Melanoma	Conflicting classifications of pathogenicity	rs34165480	RCV005892333
Meniere disease	Uncertain significance; Conflicting classifications of pathogenicity	rs771509347, rs1196490495, rs139480342, rs748935017, rs529963438, rs199513213, rs147024680	RCV004571669 RCV004571193 RCV004567395 RCV004571828 RCV004572470 RCV004567862 RCV004570323
Nonpapillary renal cell carcinoma	Likely benign	rs876657	RCV005922825
Ovarian serous cystadenocarcinoma	Benign	rs73974805	RCV005914758
Prostate cancer	Uncertain significance	rs148637119	RCV000149132
Rhabdomyolysis	Conflicting classifications of pathogenicity	rs139480342	RCV000662290
Thymoma	Benign	rs73974805	RCV005914759
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs34165480	RCV005892332

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)