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MYH7 (myosin, heavy chain 7, cardiac muscle, beta)

Identity

Other namesCMD1S
CMH1
MPD1
MYHCB
SPMD
SPMM
HGNC (Hugo) MYH7
LocusID (NCBI) 4625
Atlas_Id 51132
Location 14q11.2
Location_base_pair Starts at 23881947 and ends at 23904895 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CD99L2 (Xq28) / MYH7 (14q11.2)KXD1 (19p13.11) / MYH7 (14q11.2)MYH7 (14q11.2) / BIRC6 (2p22.3)
MYH7 (14q11.2) / CLCN1 (7q34)MYH7 (14q11.2) / GYS1 (19q13.33)PVT1 (8q24.21) / MYH7 (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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;8)(p23;p11) KAT6A/ASXL2

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Lung: Translocations in Small Cell Carcinoma

External links

Nomenclature
HGNC (Hugo)MYH7   7577
Cards
Entrez_Gene (NCBI)MYH7  4625  myosin, heavy chain 7, cardiac muscle, beta
GeneCards (Weizmann)MYH7
Ensembl hg19 (Hinxton)ENSG00000092054 [Gene_View]  chr14:23881947-23904895 [Contig_View]  MYH7 [Vega]
Ensembl hg38 (Hinxton)ENSG00000092054 [Gene_View]  chr14:23881947-23904895 [Contig_View]  MYH7 [Vega]
ICGC DataPortalENSG00000092054
TCGA cBioPortalMYH7
AceView (NCBI)MYH7
Genatlas (Paris)MYH7
WikiGenes4625
SOURCE (Princeton)MYH7
Genomic and cartography
GoldenPath hg19 (UCSC)MYH7  -     chr14:23881947-23904895 -  14q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYH7  -     14q11.2   [Description]    (hg38-Dec_2013)
EnsemblMYH7 - 14q11.2 [CytoView hg19]  MYH7 - 14q11.2 [CytoView hg38]
Mapping of homologs : NCBIMYH7 [Mapview hg19]  MYH7 [Mapview hg38]
OMIM160500   160760   181430   192600   255160   255310   608358   613426   
Gene and transcription
Genbank (Entrez)AB209708 AJ710171 AK307590 AY518538 BC112171
RefSeq transcript (Entrez)NM_000257
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_007884 NT_026437 NW_004929393
Consensus coding sequences : CCDS (NCBI)MYH7
Cluster EST : UnigeneHs.719946 [ NCBI ]
CGAP (NCI)Hs.719946
Alternative Splicing GalleryENSG00000092054
Gene ExpressionMYH7 [ NCBI-GEO ]   MYH7 [ EBI - ARRAY_EXPRESS ]   MYH7 [ SEEK ]   MYH7 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4625
GTEX Portal (Tissue expression)MYH7
Protein : pattern, domain, 3D structure
UniProt/SwissProtP12883 (Uniprot)
NextProtP12883  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP12883
Splice isoforms : SwissVarP12883 (Swissvar)
PhosPhoSitePlusP12883
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 mutations4625
Blocks (Seattle)MYH7
PDB (SRS)1IK2    2FXM    2FXO    3DTP    4DB1    4P7H    4PA0    4XA1    4XA3    4XA4    4XA6    5CHX    5CJ0    5CJ1    5CJ4   
PDB (PDBSum)1IK2    2FXM    2FXO    3DTP    4DB1    4P7H    4PA0    4XA1    4XA3    4XA4    4XA6    5CHX    5CJ0    5CJ1    5CJ4   
PDB (IMB)1IK2    2FXM    2FXO    3DTP    4DB1    4P7H    4PA0    4XA1    4XA3    4XA4    4XA6    5CHX    5CJ0    5CJ1    5CJ4   
PDB (RSDB)1IK2    2FXM    2FXO    3DTP    4DB1    4P7H    4PA0    4XA1    4XA3    4XA4    4XA6    5CHX    5CJ0    5CJ1    5CJ4   
Structural Biology KnowledgeBase1IK2    2FXM    2FXO    3DTP    4DB1    4P7H    4PA0    4XA1    4XA3    4XA4    4XA6    5CHX    5CJ0    5CJ1    5CJ4   
SCOP (Structural Classification of Proteins)1IK2    2FXM    2FXO    3DTP    4DB1    4P7H    4PA0    4XA1    4XA3    4XA4    4XA6    5CHX    5CJ0    5CJ1    5CJ4   
CATH (Classification of proteins structures)1IK2    2FXM    2FXO    3DTP    4DB1    4P7H    4PA0    4XA1    4XA3    4XA4    4XA6    5CHX    5CJ0    5CJ1    5CJ4   
SuperfamilyP12883
Human Protein AtlasENSG00000092054
Peptide AtlasP12883
HPRD01175
IPIIPI00025880   IPI01015436   
Protein Interaction databases
DIP (DOE-UCLA)P12883
IntAct (EBI)P12883
FunCoupENSG00000092054
BioGRIDMYH7
STRING (EMBL)MYH7
ZODIACMYH7
Ontologies - Pathways
QuickGOP12883
Ontology : AmiGOmicrofilament motor activity  microfilament motor activity  stress fiber  regulation of the force of heart contraction  regulation of heart rate  skeletal muscle contraction  actin binding  protein binding  calmodulin binding  ATP binding  muscle myosin complex  muscle contraction  muscle contraction  striated muscle contraction  adult heart development  regulation of the force of skeletal muscle contraction  transition between fast and slow fiber  myosin complex  ATPase activity  sarcomere  Z disc  muscle filament sliding  actin-dependent ATPase activity  regulation of slow-twitch skeletal muscle fiber contraction  myosin filament  protein homodimerization activity  ATP metabolic process  protein heterodimerization activity  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  
Ontology : EGO-EBImicrofilament motor activity  microfilament motor activity  stress fiber  regulation of the force of heart contraction  regulation of heart rate  skeletal muscle contraction  actin binding  protein binding  calmodulin binding  ATP binding  muscle myosin complex  muscle contraction  muscle contraction  striated muscle contraction  adult heart development  regulation of the force of skeletal muscle contraction  transition between fast and slow fiber  myosin complex  ATPase activity  sarcomere  Z disc  muscle filament sliding  actin-dependent ATPase activity  regulation of slow-twitch skeletal muscle fiber contraction  myosin filament  protein homodimerization activity  ATP metabolic process  protein heterodimerization activity  ventricular cardiac muscle tissue morphogenesis  cardiac muscle contraction  
Pathways : KEGGCardiac muscle contraction    Adrenergic signaling in cardiomyocytes    Tight junction    Hypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy    Viral myocarditis   
NDEx Network
Atlas of Cancer Signalling NetworkMYH7
Wikipedia pathwaysMYH7
Orthology - Evolution
OrthoDB4625
GeneTree (enSembl)ENSG00000092054
Phylogenetic Trees/Animal Genes : TreeFamMYH7
Homologs : HomoloGeneMYH7
Homology/Alignments : Family Browser (UCSC)MYH7
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerMYH7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH7
dbVarMYH7
ClinVarMYH7
1000_GenomesMYH7 
Exome Variant ServerMYH7
ExAC (Exome Aggregation Consortium)MYH7 (select the gene name)
Genetic variants : HAPMAP4625
Genomic Variants (DGV)MYH7 [DGVbeta]
Mutations
ICGC Data PortalMYH7 
TCGA Data PortalMYH7 
Broad Tumor PortalMYH7
OASIS PortalMYH7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICMYH7 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MYH7
DgiDB (Drug Gene Interaction Database)MYH7
DoCM (Curated mutations)MYH7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYH7 (select a term)
intoGenMYH7
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:23881947-23904895  ENSG00000092054
CONAN: Copy Number AnalysisMYH7 
Mutations and Diseases : HGMDMYH7
OMIM160500    160760    181430    192600    255160    255310    608358    613426   
MedgenMYH7
Genetic Testing Registry MYH7
NextProtP12883 [Medical]
TSGene4625
GENETestsMYH7
Huge Navigator MYH7 [HugePedia]
snp3D : Map Gene to Disease4625
BioCentury BCIQMYH7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4625
Chemical/Pharm GKB GenePA31374
Clinical trialMYH7
Miscellaneous
canSAR (ICR)MYH7 (select the gene name)
Probes
Litterature
PubMed225 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYH7
EVEXMYH7
GoPubMedMYH7
iHOPMYH7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun May 8 18:57:13 CEST 2016

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