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)

1. Identity

General Information
Alias_symbol (synonym)SMMHC
Other alias
HGNC (Hugo) MYH11
LocusID (NCBI) 4629
Atlas_Id 43
Location 16p13.11  [Link to chromosome band 16p13]
Location_base_pair Starts at 15703135 and ends at 15857030 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
  MYH11 (myosin heavy chain) (incomplete) Hybridization with XL CBFB/MYH11 probe (Metasystems, Germany) showing the orange labeled probe hybridizing to CBFB, and a green labeled probe hybridizing to the smooth muscle myosin heavy chain gene (MYH11) on 16p13.11 - Courtesy Adriana Zamecnikova.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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)


  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

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

4. Implicated in

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

5. 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

6. 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 :

7. Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]

8. External links

HGNC (Hugo)MYH11   7569
Entrez_Gene (NCBI)MYH11  4629  myosin heavy chain 11
GeneCards (Weizmann)MYH11
Ensembl hg19 (Hinxton)ENSG00000133392 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133392 [Gene_View] &nbspENSG00000133392 [Sequence]  chr16:15703135-15857030 [Contig_View]  MYH11 [Vega]
ICGC DataPortalENSG00000133392
TCGA cBioPortalMYH11
AceView (NCBI)MYH11
Genatlas (Paris)MYH11
SOURCE (Princeton)MYH11
Genetics Home Reference (NIH)MYH11
Genomic and cartography
GoldenPath hg38 (UCSC)MYH11  -     chr16:15703135-15857030 -  16p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYH11  -     16p13.11   [Description]    (hg19-Feb_2009)
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 NG_009299 NT_187607
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] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)4629
GTEX Portal (Tissue expression)MYH11
Human Protein AtlasENSG00000133392-MYH11 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35749   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35749  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35749
Splice isoforms : SwissVarP35749
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    MYOSIN_MOTOR (PS51456)    SH3_LIKE (PS51844)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    Kinesin_motor_dom_sf    Myosin_head_motor_dom    Myosin_IQ_contain_sf    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)  
Conserved Domain (NCBI)MYH11
DMDM Disease mutations4629
Blocks (Seattle)MYH11
Human Protein Atlas [tissue]ENSG00000133392-MYH11 [tissue]
Peptide AtlasP35749
IPIIPI00020501   IPI00873982   IPI00744256   IPI00743857   IPI00024870   
Protein Interaction databases
IntAct (EBI)P35749
Ontologies - Pathways
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  
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  
Pathways : KEGGVascular smooth muscle contraction    Tight junction   
REACTOMEP35749 [protein]
REACTOME PathwaysR-HSA-5627123 [pathway]   
NDEx NetworkMYH11
Atlas of Cancer Signalling NetworkMYH11
Wikipedia pathwaysMYH11
Orthology - Evolution
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] &nbsp[ins(16)(q22p13p13)]  [ins(16;16)(q22;p13p13)]  
[inv(16)(p13q22)]  [t(16;16)(p13;q22)]  
Fusion : TICdbCBFB [16q22.1]  -  MYH11 [16p13.11]
Fusion : QuiverMYH11
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYH11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH11
Exome Variant ServerMYH11
ExAC (Exome Aggregation Consortium)ENSG00000133392
GNOMAD BrowserENSG00000133392
Varsome BrowserMYH11
Genetic variants : HAPMAP4629
Genomic Variants (DGV)MYH11 [DGVbeta]
DECIPHERMYH11 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYH11 
ICGC Data PortalMYH11 
TCGA Data PortalMYH11 
Broad Tumor PortalMYH11
OASIS PortalMYH11 [ Somatic mutations - Copy number]
Cancer Gene: CensusMYH11 
Somatic Mutations in Cancer : COSMICMYH11  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYH11
intOGen PortalMYH11
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)
NCG5 (London)MYH11
Cancer3DMYH11(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM132900    160745   
Orphanet2113    3258    12138    13846   
Genetic Testing Registry MYH11
NextProtP35749 [Medical]
Target ValidationMYH11
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
canSAR (ICR)MYH11 (select the gene name)
DataMed IndexMYH11
PubMed83 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 19:02:09 CET 2019

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