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MYH11 (myosin heavy chain) (incomplete)

Written1999-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

HGNC (Hugo) MYH11
LocusID (NCBI) 4629
Atlas_Id 43
Location 16p13.11  [Link to chromosome band 16p13]
Location_base_pair Starts at 15796992 and ends at 15950887 bp from pter ( according to hg19-Feb_2009)  [Mapping MYH11.png]
Local_order proximal (in 16p13.1) from CBP (in 16p13.3) involved in the t(8;16), but distal of MRP, also in 16p13.1
Fusion genes
(updated 2016)
CBFB (16q22.1) / MYH11 (16p13.11)CEBPZ (2p22.2) / MYH11 (16p13.11)EXOC6B (2p13.2) / MYH11 (16p13.11)
FRMD3 (9q21.32) / MYH11 (16p13.11)GPI (19q13.11) / MYH11 (16p13.11)KMT2A (11q23.3) / MYH11 (16p13.11)
MYH11 (16p13.11) / CBFB (16q22.1)MYH11 (16p13.11) / RAB2A (8q12.1)MYH11 (16p13.11) / SDC3 (1p35.2)
MYH11 (16p13.11) / SNX29 (16p13.13)NBR1 (17q21.31) / MYH11 (16p13.11)PRR4 (12p13.2) / MYH11 (16p13.11)
RPRD2 (1q21.3) / MYH11 (16p13.11)

DNA/RNA

 
  c-MYH11 (16p13) in normal cells: PAC 114C15 (top) and PAC 893C15 (below) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Transcription alternate splicing in 3

Protein

Description the proteins name is MYST; 214 KDa, 1857 amino acids known; N-term ATPase globular domain responsible for actin binding and mechanical movement, and a C-term long repeat of coil-coil domain to facilitate filament aggregates; forms hetero-hexameres
Expression smooth muscle
Function muscle contraction
Homology member of the myosin II family

Implicated in

Note
Entity inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) in acute non lymphoblastic leukaemia (AML) or myelodysplastic syndromes (MDS) --> CBFb - MYH11
Disease nearly pathognomonic of M4eo-AML: with eosinophilia; frequent CNS involvement
Prognosis high CR rate; better prognosis than most other AML
Cytogenetics the 3 chromosome anomalies are variants of each other
Hybrid/Mutated Gene 5 CBFb - 3 MYH11
Abnormal Protein the N-trem and most of CBFb is fused to the MYH11 C-term with its multimerization domain
  

Bibliography

Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia.
Liu P, Claxton DF, Marlton P, Hajra A, Siciliano J, Freedman M, Chandrasekharappa SC, Yanagisawa K, Stallings RL, Collins FS
Blood. 1993 ; 82 (3) : 716-721.
PMID 8338941
 
A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo.
van der Reijden BA, Dauwerse JG, Wessels JW, Beverstock GC, Hagemeijer A, van Ommen GJ, Breuning MH
Blood. 1993 ; 82 (10) : 2948-2952.
PMID 8219185
 

Citation

This paper should be referenced as such :
Huret, JL
MYH11 (myosin heavy chain)
Atlas Genet Cytogenet Oncol Haematol. 1999;3(3):126-127.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MYH11ID43.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  Classification of acute myeloid leukemias
inv(16)(p13q22) CBFB/MYH11;t(16;16)(p13;q22) CBFB/MYH11;del(16)(q22) CBFB/MYH11
inv(16)(p13q22) CBFB/MYH11 in treatment related leukemia
t(5;16)(q32;p13) NDE1/PDGFRB
+22 or trisomy 22 (solely?)

External links

Nomenclature
HGNC (Hugo)MYH11   7569
Cards
AtlasMYH11ID43
Entrez_Gene (NCBI)MYH11  4629  myosin, heavy chain 11, smooth muscle
AliasesAAT4; FAA4; SMHC; SMMHC
GeneCards (Weizmann)MYH11
Ensembl hg19 (Hinxton)ENSG00000133392 [Gene_View]  chr16:15796992-15950887 [Contig_View]  MYH11 [Vega]
Ensembl hg38 (Hinxton)ENSG00000133392 [Gene_View]  chr16:15796992-15950887 [Contig_View]  MYH11 [Vega]
ICGC DataPortalENSG00000133392
TCGA cBioPortalMYH11
AceView (NCBI)MYH11
Genatlas (Paris)MYH11
WikiGenes4629
SOURCE (Princeton)MYH11
Genomic and cartography
GoldenPath hg19 (UCSC)MYH11  -     chr16:15796992-15950887 -  16p13.11   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYH11  -     16p13.11   [Description]    (hg38-Dec_2013)
EnsemblMYH11 - 16p13.11 [CytoView hg19]  MYH11 - 16p13.11 [CytoView hg38]
Mapping of homologs : NCBIMYH11 [Mapview hg19]  MYH11 [Mapview hg38]
OMIM132900   160745   
Gene and transcription
Genbank (Entrez)AA552189 AB020673 AF013570 AF020091 AK125033
RefSeq transcript (Entrez)NM_001040113 NM_001040114 NM_002474 NM_022844
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_009299 NT_010393 NT_187607 NW_004929400
Consensus coding sequences : CCDS (NCBI)MYH11
Cluster EST : UnigeneHs.460109 [ NCBI ]
CGAP (NCI)Hs.460109
Alternative Splicing GalleryENSG00000133392
Gene ExpressionMYH11 [ NCBI-GEO ]   MYH11 [ EBI - ARRAY_EXPRESS ]   MYH11 [ SEEK ]   MYH11 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH11 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4629
GTEX Portal (Tissue expression)MYH11
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35749 (Uniprot)
NextProtP35749  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35749
Splice isoforms : SwissVarP35749 (Swissvar)
PhosPhoSitePlusP35749
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_S1_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 mutations4629
Blocks (Seattle)MYH11
SuperfamilyP35749
Human Protein AtlasENSG00000133392
Peptide AtlasP35749
HPRD01174
IPIIPI00020501   IPI00873982   IPI00744256   IPI00743857   IPI00024870   
Protein Interaction databases
DIP (DOE-UCLA)P35749
IntAct (EBI)P35749
FunCoupENSG00000133392
BioGRIDMYH11
STRING (EMBL)MYH11
ZODIACMYH11
Ontologies - Pathways
QuickGOP35749
Ontology : AmiGOmotor activity  protein binding  calmodulin binding  ATP binding  cytosol  muscle myosin complex  muscle contraction  smooth muscle contraction  structural constituent of muscle  skeletal muscle myosin thick filament assembly  myosin filament  melanosome  elastic fiber assembly  cardiac muscle fiber development  actin filament binding  extracellular exosome  mitophagy in response to mitochondrial depolarization  
Ontology : EGO-EBImotor activity  protein binding  calmodulin binding  ATP binding  cytosol  muscle myosin complex  muscle contraction  smooth muscle contraction  structural constituent of muscle  skeletal muscle myosin thick filament assembly  myosin filament  melanosome  elastic fiber assembly  cardiac muscle fiber development  actin filament binding  extracellular exosome  mitophagy in response to mitochondrial depolarization  
Pathways : KEGGVascular smooth muscle contraction    Tight junction   
REACTOMEP35749 [protein]
REACTOME PathwaysR-HSA-3928663 EPHA-mediated growth cone collapse [pathway]
REACTOME PathwaysR-HSA-5627117 RHO GTPases Activate ROCKs [pathway]
REACTOME PathwaysR-HSA-5625900 RHO GTPases activate CIT [pathway]
REACTOME PathwaysR-HSA-5627123 RHO GTPases activate PAKs [pathway]
REACTOME PathwaysR-HSA-5625740 RHO GTPases activate PKNs [pathway]
REACTOME PathwaysR-HSA-445355 Smooth Muscle Contraction [pathway]
REACTOME PathwaysR-HSA-416572 Sema4D induced cell migration and growth-cone collapse [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkMYH11
Wikipedia pathwaysMYH11
Orthology - Evolution
OrthoDB4629
GeneTree (enSembl)ENSG00000133392
Phylogenetic Trees/Animal Genes : TreeFamMYH11
Homologs : HomoloGeneMYH11
Homology/Alignments : Family Browser (UCSC)MYH11
Gene fusions - Rearrangements
Fusion : MitelmanCBFB/MYH11 [16q22.1/16p13.11]  [ins(16)(q22p13p13)]  [ins(16;16)(q22;p13p13)]  
[inv(16)(p13q22)]  [t(16;16)(p13;q22)]  
Fusion : TICdbCBFB [16q22.1]  -  MYH11 [16p13.11]
Polymorphisms : SNP, variants
NCBI Variation ViewerMYH11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH11
dbVarMYH11
ClinVarMYH11
1000_GenomesMYH11 
Exome Variant ServerMYH11
ExAC (Exome Aggregation Consortium)MYH11 (select the gene name)
Genetic variants : HAPMAP4629
Genomic Variants (DGV)MYH11 [DGVbeta]
Mutations
ICGC Data PortalMYH11 
TCGA Data PortalMYH11 
Broad Tumor PortalMYH11
OASIS PortalMYH11 [ Somatic mutations - Copy number]
Cancer Gene: CensusMYH11 
Somatic Mutations in Cancer : COSMICMYH11 
intOGen PortalMYH11
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)Connective tissue disorders (VUMC Amsterdam)
BioMutasearch MYH11
DgiDB (Drug Gene Interaction Database)MYH11
DoCM (Curated mutations)MYH11 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYH11 (select a term)
intoGenMYH11
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)16:15796992-15950887  ENSG00000133392
CONAN: Copy Number AnalysisMYH11 
Mutations and Diseases : HGMDMYH11
OMIM132900    160745   
MedgenMYH11
Genetic Testing Registry MYH11
NextProtP35749 [Medical]
TSGene4629
GENETestsMYH11
Huge Navigator MYH11 [HugePedia]
snp3D : Map Gene to Disease4629
BioCentury BCIQMYH11
ClinGenMYH11 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4629
Chemical/Pharm GKB GenePA31367
Clinical trialMYH11
Miscellaneous
canSAR (ICR)MYH11 (select the gene name)
Probes
ProbeMYH11 (16p13) in normal cells (bari)
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYH11
EVEXMYH11
GoPubMedMYH11
iHOPMYH11
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Aug 10 18:58:15 CEST 2016

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jlhuret@AtlasGeneticsOncology.org.