MYH6 (myosin heavy chain 6)

Gene

• Entrez ID: 4624
• Gene name: Myosin heavy chain 6
• Gene symbol: MYH6
• Synonyms: ASD3, CMD1EE, CMH14, MYHC, MYHCA, SSS3, alpha-MHC
• Chromosome: 14
• Chromosome location: 14q11.2
• Summary: 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 gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]

SNPs

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

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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000146	Function	Microfilament motor activity	IDA	15621050
GO:0000146	Function	Microfilament motor activity	ISS
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	ISS
GO:0002027	Process	Regulation of heart rate	IDA	15621050
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005859	Component	Muscle myosin complex	TAS	1776652
GO:0006470	Process	Protein dephosphorylation	IEA
GO:0006936	Process	Muscle contraction	IDA	15621050
GO:0006941	Process	Striated muscle contraction	IMP	15621050
GO:0006941	Process	Striated muscle contraction	ISS
GO:0007512	Process	Adult heart development	IMP	15735645, 15998695
GO:0007522	Process	Visceral muscle development	ISS
GO:0008016	Process	Regulation of heart contraction	ISS
GO:0008217	Process	Regulation of blood pressure	ISS
GO:0014898	Process	Cardiac muscle hypertrophy in response to stress	IEA
GO:0016459	Component	Myosin complex	TAS	12933792
GO:0016887	Function	ATPase activity	IDA	15621050
GO:0017018	Function	Myosin phosphatase activity	TAS
GO:0019901	Function	Protein kinase binding	IPI	18029400, 18429820
GO:0030016	Component	Myofibril	ISS
GO:0030017	Component	Sarcomere	TAS	12933792
GO:0030018	Component	Z disc	IEA
GO:0030049	Process	Muscle filament sliding	IMP	16088376
GO:0030049	Process	Muscle filament sliding	TAS
GO:0030239	Process	Myofibril assembly	ISS
GO:0030898	Function	Actin-dependent ATPase activity	IMP	16088376
GO:0032982	Component	Myosin filament	IEA
GO:0043462	Process	Regulation of ATPase activity	ISS
GO:0045214	Process	Sarcomere organization	ISS
GO:0046034	Process	ATP metabolic process	IDA	15621050
GO:0048739	Process	Cardiac muscle fiber development	ISS
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:0060048	Process	Cardiac muscle contraction	ISS	9884344
GO:0060420	Process	Regulation of heart growth	IEA

Other IDs

• MIM: 160710
• HGNC: 7576
• e!Ensembl: 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