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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
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 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 : Fast-db (Paris)GSHG0009249
Alternative Splicing GalleryENSG00000197616
Gene ExpressionMYH6 [ NCBI-GEO ]     MYH6 [ SEEK ]   MYH6 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13533 (Uniprot)
NextProtP13533  [Medical]  [Publications]
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
IntegromeDBMYH6
STRING (EMBL)MYH6
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  nucleoplasm  cytoplasm  cytosol  muscle myosin complex  focal adhesion  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  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  nucleoplasm  cytoplasm  cytosol  muscle myosin complex  focal adhesion  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  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   
Protein Interaction DatabaseMYH6
DoCM (Curated mutations)MYH6
Wikipedia pathwaysMYH6
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerMYH6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH6
dbVarMYH6
ClinVarMYH6
1000_GenomesMYH6 
Exome Variant ServerMYH6
SNP (GeneSNP Utah)MYH6
SNP : HGBaseMYH6
Genetic variants : HAPMAPMYH6
Genomic Variants (DGV)MYH6 [DGVbeta]
Mutations
ICGC Data PortalMYH6 
TCGA Data PortalMYH6 
Tumor PortalMYH6
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:23851199-23877486
CONAN: Copy Number AnalysisMYH6 
Mutations and Diseases : HGMDMYH6
OMIM160710    192600    613251    613252    614089    614090   
MedgenMYH6
NextProtP13533 [Medical]
GENETestsMYH6
Disease Genetic AssociationMYH6
Huge Navigator MYH6 [HugePedia]  MYH6 [HugeCancerGEM]
snp3D : Map Gene to Disease4624
DGIdb (Drug Gene Interaction db)MYH6
BioCentury BCIQMYH6
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
PubMed45 Pubmed reference(s) in Entrez
CoreMineMYH6
GoPubMedMYH6
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jun 27 11:57:31 CEST 2015

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