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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
Atlas_Id 50391
Location 14q11.2  [Link to chromosome band 14q11]
Location_base_pair Starts at 23851199 and ends at 23877486 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RSPRY1 (16q13) / MYH6 (14q11.2)

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
AliasesASD3; CMD1EE; CMH14; MYHC; 
MYHCA; SSS3; alpha-MHC
GeneCards (Weizmann)MYH6
Ensembl hg19 (Hinxton)ENSG00000197616 [Gene_View]  chr14:23851199-23877486 [Contig_View]  MYH6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197616 [Gene_View]  chr14:23851199-23877486 [Contig_View]  MYH6 [Vega]
ICGC DataPortalENSG00000197616
TCGA cBioPortalMYH6
AceView (NCBI)MYH6
Genatlas (Paris)MYH6
WikiGenes4624
SOURCE (Princeton)MYH6
Genomic and cartography
GoldenPath hg19 (UCSC)MYH6  -     chr14:23851199-23877486 -  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYH6  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblMYH6 - 14q11.2 [CytoView hg19]  MYH6 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIMYH6 [Mapview hg19]  MYH6 [Mapview hg38]
OMIM160710   192600   613251   613252   614089   614090   
Gene and transcription
Genbank (Entrez)AF056928 AK309494 BC117511 BC132667 BX501231
RefSeq transcript (Entrez)NM_002471
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_023444 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)MYH6
Cluster EST : UnigeneHs.278432 [ NCBI ]
CGAP (NCI)Hs.278432
Alternative Splicing GalleryENSG00000197616
Gene ExpressionMYH6 [ NCBI-GEO ]   MYH6 [ EBI - ARRAY_EXPRESS ]   MYH6 [ SEEK ]   MYH6 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4624
GTEX Portal (Tissue expression)MYH6
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13533 (Uniprot)
NextProtP13533  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP13533
Splice isoforms : SwissVarP13533 (Swissvar)
PhosPhoSitePlusP13533
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   
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)MYH6
SuperfamilyP13533
Human Protein AtlasENSG00000197616
Peptide AtlasP13533
HPRD01171
IPIIPI00514201   
Protein Interaction databases
DIP (DOE-UCLA)P13533
IntAct (EBI)P13533
FunCoupENSG00000197616
BioGRIDMYH6
STRING (EMBL)MYH6
ZODIACMYH6
Ontologies - Pathways
QuickGOP13533
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  cytosol  muscle myosin complex  protein dephosphorylation  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  myosin phosphatase 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  ATP metabolic process  cardiac muscle fiber development  atrial cardiac muscle tissue morphogenesis  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  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  cytosol  muscle myosin complex  protein dephosphorylation  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  myosin phosphatase 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  ATP metabolic process  cardiac muscle fiber development  atrial cardiac muscle tissue morphogenesis  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  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   
NDEx Network
Atlas of Cancer Signalling NetworkMYH6
Wikipedia pathwaysMYH6
Orthology - Evolution
OrthoDB4624
GeneTree (enSembl)ENSG00000197616
Phylogenetic Trees/Animal Genes : TreeFamMYH6
Homologs : HomoloGeneMYH6
Homology/Alignments : Family Browser (UCSC)MYH6
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMYH6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH6
dbVarMYH6
ClinVarMYH6
1000_GenomesMYH6 
Exome Variant ServerMYH6
ExAC (Exome Aggregation Consortium)MYH6 (select the gene name)
Genetic variants : HAPMAP4624
Genomic Variants (DGV)MYH6 [DGVbeta]
Mutations
ICGC Data PortalMYH6 
TCGA Data PortalMYH6 
Broad Tumor PortalMYH6
OASIS PortalMYH6 [ Somatic mutations - Copy number]
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
BioMutasearch MYH6
DgiDB (Drug Gene Interaction Database)MYH6
DoCM (Curated mutations)MYH6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYH6 (select a term)
intoGenMYH6
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:23851199-23877486  ENSG00000197616
CONAN: Copy Number AnalysisMYH6 
Mutations and Diseases : HGMDMYH6
OMIM160710    192600    613251    613252    614089    614090   
MedgenMYH6
Genetic Testing Registry MYH6
NextProtP13533 [Medical]
TSGene4624
GENETestsMYH6
Huge Navigator MYH6 [HugePedia]
snp3D : Map Gene to Disease4624
BioCentury BCIQMYH6
ClinGenMYH6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4624
Chemical/Pharm GKB GenePA31373
Clinical trialMYH6
Miscellaneous
canSAR (ICR)MYH6 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYH6
EVEXMYH6
GoPubMedMYH6
iHOPMYH6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 9 19:06:00 CEST 2016

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