Gene Gene information from NCBI Gene database.
Entrez ID 4624
Gene name Myosin heavy chain 6
Gene symbol MYH6
Synonyms (NCBI Gene)
ASD3CMD1EECMH14MYHCMYHCASSS3alpha-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 ge
SNPs SNP information provided by dbSNP.
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
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
ELK3 Repression 12933792
JARID2 Unknown 18805276
TBX5 Unknown 15735645
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
160710 7576 ENSG00000197616
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
AETENGKTVTVKE
DQVLQQNPPKFDKIEDMAMLTFLHEPAVLFNLKERYAAWMIYTYSGL
FCVTVNPYKWLPVYNAEVVAAYRGKKRSEAPPHIFSISDNAYQYMLTDRENQSILITGES
GAGKTVNTKRVIQYFASIAAIGDRGKKDNANANKGTLEDQIIQANPALEAFGNAKTVRND
NSSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERNYHIFYQILSNKKPELLD
MLLVTNNPYDYAFVSQGEVSVASIDDSEELMATDSAFDVLGFTSEEKAGVYKLTGAIMHY
GNMKFKQKQREEQAEPDGTEDADKSAYLMGLNSADLLKGLCHPRVKVGNEYVTKGQSVQQ
VYYSIGALAKAVYEKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCIN
FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECM
FPKATDMTFKAKLYDNHLGKSNNFQKPRNIKGKQEAHFSLIHYAGTVDYNILGWLEKNKD
PLNETVVALYQKSSLKLMATLFSSYATADTGDSGKSKGGKKKGSSFQTVSALHRENLNKL
MTNLRTTHPHFVRCIIPNERKAPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDF
RQRYRILNPVAIPEGQFIDSRKGTEKLLSSLDIDHNQYKFGHTKVFFK
AGLLGLLEEMRD
ERLSRIITRMQAQARGQLMRIEFKKIVERRDALLVIQWNIRAFMGVKNWPWMKLYFKIKP
LLKSAETEKEMATMKEEFGRIKETLEKSEARRKELEEKMVSLLQEKNDLQLQVQAEQDNL
NDAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKKDIDDLE
LTLAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQVEEDKVN
SLSKSKVKLEQQVDDLEGSLEQEKKVRMDLERAKRKLEGDLKLTQESIMDLENDKLQLEE
KLKKKEFDINQQNSKIEDEQVLALQLQKKLKENQARIEELEEELEAERTARAKVEKLRSD
LSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHAD
SVAELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKVSRTLEDQANE
YRVKLEEAQRSLNDFTTQRAKLQTENGELARQLEEKEALISQLTRGKLSYTQQMEDLKRQ
LEEEGKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRVLSKANSEVAQWRTKYETD
AIQRTEELEEAKKKLAQRLQDAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAA
AAALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETF
KRENKNLQEEISDLTEQLGEGGKNVHELEKVRKQLEVEKLELQSALEEAEASLEHEEGKI
LRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHQRVVDSLQTSLDAETRSRNEVLRVKKKM
EGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRN
NLLQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMESDLTQLQ
SEVEEAVQECRNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLD
EAEQIALKGGKKQLQKLEARVRELEGELEAEQKRNAESVKGMRKSERRIKELTYQTEEDK
KNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVN
KLRAKS
RDIGAKQKMHDEE
Sequence length 1939
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
4672
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Atrial septal defect 3 Pathogenic rs267606903 RCV000015211
Cardiomyopathy Likely pathogenic rs778808038 RCV000852452
Dilated cardiomyopathy 1EE Pathogenic rs267606906 RCV000015213
Heart, malformation of Pathogenic rs1566513862 RCV001836862
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Arrhythmogenic right ventricular cardiomyopathy Conflicting classifications of pathogenicity; Uncertain significance rs1158854454, rs1369680809 RCV000852694
RCV000852451
Arrhythmogenic right ventricular dysplasia 9 Uncertain significance rs1114167343 RCV000491541
Atrial septal defect Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign rs193922652, rs886050409, rs886050413, rs748143404, rs769686237, rs368451573, rs397516766 RCV000396069
RCV000292906
RCV000294453
RCV000350031
RCV000268671
RCV000295361
RCV000299696
RCV000289273
AV Block Third Degree Adverse Event Uncertain significance rs730880153 RCV000157344
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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