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MYH6 (myosin, heavy chain 6, cardiac muscle, alpha)

Identity

Other namesASD3
CMD1EE
CMH14
MYHC
MYHCA
SSS3
alpha-MHC
HGNC (Hugo) MYH6
LocusID (NCBI) 4624
Location 14q11.2
Location_base_pair Starts at 23851199 and ends at 23877486 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)MYH6   7576
Cards
Entrez_Gene (NCBI)MYH6  4624  myosin, heavy chain 6, cardiac muscle, alpha
GeneCards (Weizmann)MYH6
Ensembl (Hinxton)ENSG00000197616 [Gene_View]  chr14:23851199-23877486 [Contig_View]  MYH6 [Vega]
ICGC DataPortalENSG00000197616
AceView (NCBI)MYH6
Genatlas (Paris)MYH6
WikiGenes4624
SOURCE (Princeton)NM_002471
Genomic and cartography
GoldenPath (UCSC)MYH6  -  14q11.2   chr14:23851199-23877486 -  14q11.2   [Description]    (hg19-Feb_2009)
EnsemblMYH6 - 14q11.2 [CytoView]
Mapping of homologs : NCBIMYH6 [Mapview]
OMIM160710   192600   613251   613252   614089   614090   
Gene and transcription
Genbank (Entrez)AF056928 AK309494 BC117511 BC132667 BX501231
RefSeq transcript (Entrez)NM_002471
RefSeq genomic (Entrez)AC_000146 NC_000014 NC_018925 NG_023444 NT_026437 NW_001838110 NW_004929393
Consensus coding sequences : CCDS (NCBI)MYH6
Cluster EST : UnigeneHs.278432 [ NCBI ]
CGAP (NCI)Hs.278432
Alternative Splicing : Fast-db (Paris)GSHG0009249
Alternative Splicing GalleryENSG00000197616
Gene ExpressionMYH6 [ NCBI-GEO ]     MYH6 [ SEEK ]   MYH6 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13533 (Uniprot)
NextProtP13533  [Medical]
With graphics : InterProP13533
Splice isoforms : SwissVarP13533 (Swissvar)
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    MYOSIN_MOTOR (PS51456)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    Myosin-like_IQ_dom    Myosin_head_motor_dom    Myosin_N    Myosin_tail    P-loop_NTPase   
Related proteins : CluSTrP13533
Domain families : Pfam (Sanger)Myosin_head (PF00063)    Myosin_N (PF02736)    Myosin_tail_1 (PF01576)   
Domain families : Pfam (NCBI)pfam00063    pfam02736    pfam01576   
Domain families : Smart (EMBL)IQ (SM00015)  MYSc (SM00242)  
DMDM Disease mutations4624
Blocks (Seattle)P13533
Human Protein AtlasENSG00000197616
Peptide AtlasP13533
HPRD01171
IPIIPI00514201   
Protein Interaction databases
DIP (DOE-UCLA)P13533
IntAct (EBI)P13533
FunCoupENSG00000197616
BioGRIDMYH6
InParanoidP13533
Interologous Interaction database P13533
IntegromeDBMYH6
STRING (EMBL)MYH6
Ontologies - Pathways
Ontology : AmiGOmicrofilament motor activity  microfilament motor activity  in utero embryonic development  stress fiber  regulation of the force of heart contraction  regulation of the force of heart contraction  regulation of heart rate  actin binding  calmodulin binding  ATP binding  nucleus  nucleolus  cytoplasm  cytosol  muscle myosin complex  focal adhesion  ATP catabolic process  muscle contraction  striated muscle contraction  striated muscle contraction  adult heart development  visceral muscle development  regulation of heart contraction  regulation of blood pressure  myosin complex  ATPase activity  protein kinase binding  myofibril  sarcomere  Z disc  muscle filament sliding  muscle filament sliding  myofibril assembly  BMP signaling pathway  actin-dependent ATPase activity  myosin filament  regulation of ATPase activity  sarcomere organization  cardiac muscle fiber development  atrial cardiac muscle tissue morphogenesis  ventricular cardiac muscle tissue morphogenesis  canonical Wnt signaling pathway  regulation of heart growth  
Ontology : EGO-EBImicrofilament motor activity  microfilament motor activity  in utero embryonic development  stress fiber  regulation of the force of heart contraction  regulation of the force of heart contraction  regulation of heart rate  actin binding  calmodulin binding  ATP binding  nucleus  nucleolus  cytoplasm  cytosol  muscle myosin complex  focal adhesion  ATP catabolic process  muscle contraction  striated muscle contraction  striated muscle contraction  adult heart development  visceral muscle development  regulation of heart contraction  regulation of blood pressure  myosin complex  ATPase activity  protein kinase binding  myofibril  sarcomere  Z disc  muscle filament sliding  muscle filament sliding  myofibril assembly  BMP signaling pathway  actin-dependent ATPase activity  myosin filament  regulation of ATPase activity  sarcomere organization  cardiac muscle fiber development  atrial cardiac muscle tissue morphogenesis  ventricular cardiac muscle tissue morphogenesis  canonical Wnt signaling pathway  regulation of heart growth  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Tight junction    Thyroid hormone signaling pathway    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy    Viral myocarditis   
Protein Interaction DatabaseMYH6
Wikipedia pathwaysMYH6
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MYH6
SNP (GeneSNP Utah)MYH6
SNP : HGBaseMYH6
Genetic variants : HAPMAPMYH6
1000_GenomesMYH6 
ICGC programENSG00000197616 
CONAN: Copy Number AnalysisMYH6 
Somatic Mutations in Cancer : COSMICMYH6 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Mutations and Diseases : HGMDMYH6
OMIM160710    192600    613251    613252    614089    614090   
MedgenMYH6
GENETestsMYH6
Disease Genetic AssociationMYH6
Huge Navigator MYH6 [HugePedia]  MYH6 [HugeCancerGEM]
Genomic VariantsMYH6  MYH6 [DGVbeta]
Exome VariantMYH6
dbVarMYH6
ClinVarMYH6
snp3D : Map Gene to Disease4624
General knowledge
Homologs : HomoloGeneMYH6
Homology/Alignments : Family Browser (UCSC)MYH6
Phylogenetic Trees/Animal Genes : TreeFamMYH6
Chemical/Protein Interactions : CTD4624
Chemical/Pharm GKB GenePA31373
Clinical trialMYH6
Cancer Resource (Charite)ENSG00000197616
Other databases
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
CoreMineMYH6
iHOPMYH6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 13 13:02:35 CEST 2014

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