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

Gene Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4624
Gene name Gene Name - the full gene name approved by the HGNC.	Myosin heavy chain 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MYH6
Synonyms (NCBI Gene) Gene synonyms aliases	ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q11.2
Summary Summary of gene provided in NCBI Entrez Gene.	Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the ge

Show/Hide all(29)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34330111	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs115845031	C>A,T	Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, coding sequence variant
rs140660481	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant
rs142850511	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs142992009	T>C,G	Benign, uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs143048583	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs143978652	C>A,T	Likely-benign, uncertain-significance, likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144329079	G>A,C	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs145508517	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147397431	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs147606900	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs199859986	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs200662317	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, synonymous variant
rs267606903	A>T	Pathogenic	Coding sequence variant, missense variant
rs267606904	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs267606905	C>A,T	Likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs267606906	G>A	Pathogenic	Coding sequence variant, missense variant
rs374941865	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs377716628	T>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs387906656	G>A	Risk-factor	Coding sequence variant, missense variant
rs515726230	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs753444140	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs778808038	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs786205484	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs863225269	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1131691839	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1263987728	A>C	Pathogenic	Coding sequence variant, missense variant
rs1555334047	GGCCCGAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566513862	C>T	Pathogenic	Splice donor variant

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
ELK3	Repression	12933792
JARID2	Unknown	18805276
TBX5	Unknown	15735645

Show/Hide all(64)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IBA
GO:0000146	Function	Microfilament motor activity	IDA	15621050
GO:0000146	Function	Microfilament motor activity	IEA
GO:0000146	Function	Microfilament motor activity	IMP	16088376
GO:0000146	Function	Microfilament motor activity	ISS
GO:0000166	Function	Nucleotide binding	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0001725	Component	Stress fiber	IEA
GO:0002026	Process	Regulation of the force of heart contraction	IDA	15621050
GO:0002026	Process	Regulation of the force of heart contraction	IEA
GO:0002026	Process	Regulation of the force of heart contraction	ISS
GO:0002027	Process	Regulation of heart rate	IDA	15621050
GO:0002027	Process	Regulation of heart rate	IEA
GO:0003012	Process	Muscle system process	IEA
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:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	TAS	1776652
GO:0006936	Process	Muscle contraction	IDA	15621050
GO:0006941	Process	Striated muscle contraction	IEA
GO:0006941	Process	Striated muscle contraction	IMP	15621050
GO:0006941	Process	Striated muscle contraction	ISS
GO:0007512	Process	Adult heart development	IEA
GO:0007512	Process	Adult heart development	IMP	15735645, 15998695
GO:0007522	Process	Visceral muscle development	IEA
GO:0007522	Process	Visceral muscle development	ISS
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008016	Process	Regulation of heart contraction	ISS
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016459	Component	Myosin complex	IEA
GO:0016459	Component	Myosin complex	TAS	12933792
GO:0016460	Component	Myosin II complex	IBA
GO:0017018	Function	Myosin phosphatase activity	TAS
GO:0019901	Function	Protein kinase binding	IPI	18029400, 18429820
GO:0030016	Component	Myofibril	IEA
GO:0030016	Component	Myofibril	ISS
GO:0030017	Component	Sarcomere	TAS	12933792
GO:0030018	Component	Z disc	IEA
GO:0030048	Process	Actin filament-based movement	IEA
GO:0030049	Process	Muscle filament sliding	IMP	16088376
GO:0030049	Process	Muscle filament sliding	TAS
GO:0030239	Process	Myofibril assembly	IEA
GO:0030239	Process	Myofibril assembly	ISS
GO:0032982	Component	Myosin filament	IBA
GO:0032982	Component	Myosin filament	IEA
GO:0045214	Process	Sarcomere organization	IEA
GO:0045214	Process	Sarcomere organization	ISS
GO:0046034	Process	ATP metabolic process	IDA	15621050
GO:0051015	Function	Actin filament binding	IBA
GO:0051015	Function	Actin filament binding	IEA
GO:0055009	Process	Atrial cardiac muscle tissue morphogenesis	IMP	15735645
GO:0055010	Process	Ventricular cardiac muscle tissue morphogenesis	IMP	11815426, 15998695
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0055013	Process	Cardiac muscle cell development	ISS
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	ISS	9884344
GO:0060420	Process	Regulation of heart growth	IEA

MIM	HGNC	e!Ensembl
160710	7576	ENSG00000197616

Protein

UniProt ID

P13533

Protein name

Myosin-6 (Myosin heavy chain 6) (Myosin heavy chain, cardiac muscle alpha isoform) (MyHC-alpha)

Protein function

Muscle contraction.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02736	Myosin_N	34 → 73	Myosin N-terminal SH3-like domain	Domain
PF00063	Myosin_head	87 → 768	Myosin head (motor domain)	Domain
PF01576	Myosin_tail_1	845 → 1926	Myosin tail	Coiled-coil

Sequence

MTDAQMADFGAAAQYLRKSEKERLEAQTRPFDIRTECFVPDDKEEFVKAKILSREGGKVI
AETENGKTVTVKEDQVLQQNPPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGL
FCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
GAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRND
NSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLD
MLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHY
GNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQ
VYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCIN
FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECM
FPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKD
PLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKL
MTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDF
RQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRD
ERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKP
LLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNL
NDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLE
LTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVN
SLSKSKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEE
KLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEELEEELEAERTARAKVEKLRSD
LSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHAD
SVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANE
YRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQ
LEEEGKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETD
AIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAA
AAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETF
KRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKI
LRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSLQTSLDAETRSRNEVLRVKKKM
EGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRN
NLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQ
SEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLD
EAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDK
KNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVN
KLRAKSRDIGAKQKMHDEE

Sequence length

1939

Interactions

View interactions

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Atrial Septal Defect	atrial septal defect 3	rs267606903	N/A
Cardiomyopathy	Primary familial dilated cardiomyopathy	rs1263987728	N/A
cardiomyopathy	Cardiomyopathy	rs778808038	N/A
Dilated Cardiomyopathy	Dilated cardiomyopathy 1EE	rs267606906	N/A
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 14	rs863225269, rs1566513862	N/A

Show/Hide Unknown Diseases (12)

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.
arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular cardiomyopathy	N/A	N/A	ClinVar
Arrhythmogenic right ventricular cardiomyopathy	Arrhythmogenic right ventricular dysplasia 9	N/A	N/A	ClinVar
Atrial Fibrillation	Atrial fibrillation	N/A	N/A	GWAS
Conduction Disorder Of The Heart	conduction disorder of the heart	N/A	N/A	ClinVar
Congestive Heart Failure	congestive heart failure	N/A	N/A	ClinVar
Heart Failure	heart failure	N/A	N/A	ClinVar
Keppen-Lubinsky Syndrome	Keppen-Lubinsky syndrome	N/A	N/A	GenCC
Left ventricular noncompaction	left ventricular noncompaction	N/A	N/A	ClinVar
Long QT Syndrome	long qt syndrome	N/A	N/A	ClinVar
Restrictive cardiomyopathy	restrictive cardiomyopathy	N/A	N/A	ClinVar
Ventricular Fibrillation	ventricular fibrillation	N/A	N/A	ClinVar
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (58)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenoma	Associate	29575536
Aortic Coarctation	Associate	29590334
Aphasia Conduction	Associate	20458009
Apical Hypertrophic Cardiomyopathy	Associate	29969989
Arrhythmias Cardiac	Associate	31173076, 33949037, 35893073
Arthrogryposis multiplex congenita distal type 1	Associate	26544689
Atrial Fibrillation	Inhibit	27390994
Atrial Fibrillation	Associate	29050564, 29590334, 30061737, 34495297
Atrial fibrillation familial 1	Associate	39596649
Atrial Septal Defect Sinus Venosus	Associate	29969989
Atrophy	Associate	22349865
Autistic Disorder	Associate	28991257, 29969989
Bicuspid Aortic Valve Disease	Associate	39226896
Bovine Respiratory Disease Complex	Associate	28991257
Breast Neoplasms	Associate	36694223
Brugada Syndrome	Associate	36303204
Carcinogenesis	Associate	29575536
Cardiomyopathies	Associate	20458009, 22194935, 26284702, 29969989, 32631246, 33478249, 34697898, 34946895, 35893073, 40004541
Cardiomyopathy Dilated	Associate	20215591, 20388650, 24119082, 26458567, 29969989, 33949037, 34011823, 34946895, 36129056
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Associate	35893073
Cardiomyopathy Hypertrophic	Associate	22429680, 27160240, 27483260, 29969989, 38006610, 39541768, 40004541
Cardiovascular Diseases	Associate	37798313
Cerebral Infarction	Associate	37525251
Cerebral Palsy	Associate	21882064
Death	Associate	35893073
Death Sudden	Associate	24119082
Death Sudden Cardiac	Associate	33949037
Diabetic Cardiomyopathies	Associate	30246236
Double Outlet Right Ventricle	Associate	36209093, 37322441
familial dilated cardiomyopathy	Associate	20215591, 29536580
Fibrosis	Associate	27135274
Heart Defects Congenital	Associate	22011241, 22194935, 28991257, 29969989, 30061737, 36890431, 39226896
Heart Diseases	Associate	21245908, 27884156, 36721086
Heart Failure	Inhibit	18191736
Heart Failure	Associate	24119082, 27884156, 34697898, 35346191, 37798313, 9410910
Heart Septal Defects Atrial	Associate	22194935, 22337856, 26284702, 29505555
Heart Septal Defects Ventricular	Associate	36209093
Hypoplastic Left Heart Syndrome	Associate	24793904, 27789736, 36890431, 39596649
Long QT Syndrome	Associate	26284702, 36303204
Microvascular Angina	Associate	29590334
Mitral Valve Stenosis	Associate	29969989
Muscle Neoplasms	Associate	25531450, 29969989
Neoplasms	Associate	29575536
Renal Insufficiency	Associate	39596649
Rhabdomyosarcoma Embryonal	Associate	27764816
Ring Chromosome 20 Syndrome	Stimulate	17673568
Scoliosis	Associate	19443534
Sick Sinus Syndrome	Associate	21378987, 26284702, 29590334, 33580673
Squamous Cell Carcinoma of Head and Neck	Associate	33530209, 39757032
Stomach Neoplasms	Associate	27708434
Stroke	Associate	35544069
Sudden Unexpected Death in Epilepsy	Associate	27135274
Thymoma	Associate	34104648
Tricuspid Atresia	Associate	22337856
Ventricular Dysfunction Right	Associate	39596649
Ventricular Fibrillation	Associate	24119082, 33949037
Ventricular Remodeling	Associate	27135274
Wolff Parkinson White Syndrome	Associate	26284702

MYH6 (myosin heavy chain 6)