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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)


HGNC (Hugo) MYH11
HGNC Alias symbSMMHC
HGNC Previous name"myosin, heavy polypeptide 11, smooth muscle"
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 GRCh38/hg38-Dec_2013)  [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


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

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


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


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 ]

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 7 ]
  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
Myeloid sarcoma
t(5;16)(q32;p13) NDE1/PDGFRB
t(11;16)(q23;p13) KMT2A/MYH11
+22 or trisomy 22 (solely?)

External links

HGNC (Hugo)MYH11   7569
Entrez_Gene (NCBI)MYH11    myosin heavy chain 11
GeneCards (Weizmann)MYH11
Ensembl hg19 (Hinxton)ENSG00000133392 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133392 [Gene_View]  ENSG00000133392 [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)
GoldenPathMYH11 - 16p13.11 [CytoView hg19]  MYH11 - 16p13.11 [CytoView hg38]
genome Data Viewer NCBIMYH11 [Mapview hg19]  
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
Alternative Splicing GalleryENSG00000133392
Gene ExpressionMYH11 [ NCBI-GEO ]   MYH11 [ EBI - ARRAY_EXPRESS ]   MYH11 [ SEEK ]   MYH11 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH11 [ Firebrowse - Broad ]
GenevisibleExpression of MYH11 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
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
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]  
Fusion : TICdbCBFB [16q22.1]  -  MYH11 [16p13.11]
Fusion : Fusion_HubA2ML1--MYH11    ABCA1--MYH11    ABCC1--MYH11    AC007563.5--MYH11    AC106886.5--MYH11    ACAP3--MYH11    ACPL2--MYH11    ACPP--MYH11    ACTB--MYH11    ACTG1--MYH11    ACTG2--MYH11    ACTN1--MYH11    AEBP1--MYH11    AHNAK--MYH11    AL450322.2--MYH11   
AOC3--MYH11    AP4E1--MYH11    APOD--MYH11    AQP3--MYH11    ARID4B--MYH11    ARNT--MYH11    ASCC2--MYH11    ATF7--MYH11    ATL3--MYH11    ATP11B--MYH11    AZGP1--MYH11    BCL2L13--MYH11    BCR--MYH11    BSG--MYH11    C16ORF45--MYH11   
C1ORF63--MYH11    CACNA1H--MYH11    CALCOCO2--MYH11    CALD1--MYH11    CALR--MYH11    CAPZA1--MYH11    CASKIN2--MYH11    CBFB--MYH11    CCDC102B--MYH11    CD59--MYH11    CDC37--MYH11    CHD8--MYH11    CITED1--MYH11    CLDN12--MYH11    CLIC4--MYH11   
CLTC--MYH11    CNBP--MYH11    CNN1--MYH11    CNN2--MYH11    COL15A1--MYH11    COL18A1--MYH11    COL1A1--MYH11    COL4A2--MYH11    COL4A5--MYH11    COL6A1--MYH11    COL6A2--MYH11    CPNE1--MYH11    CPSF6--MYH11    CRELD1--MYH11    CRNN--MYH11   
CRTAP--MYH11    CSDC2--MYH11    CSRP1--MYH11    CTSA--MYH11    CYBRD1--MYH11    DES--MYH11    DIAPH2--MYH11    DLGAP4-AS1--MYH11    DNMT1--MYH11    DSP--MYH11    DUSP7--MYH11    EIF1--MYH11    EMP1--MYH11    ENO1--MYH11    EPHA7--MYH11   
ERCC1--MYH11    ERRFI1--MYH11    EXOC6B--MYH11    EXOSC10--MYH11    FBLN1--MYH11    FBLN5--MYH11    FBRS--MYH11    FCHSD2--MYH11    FGFR1OP--MYH11    FLNA--MYH11    FN1--MYH11    FOSL2--MYH11    FRMD3--MYH11    FTL--MYH11    FXYD5--MYH11   
GAS6--MYH11    GBP6--MYH11    GMPR--MYH11    GNAS--MYH11    GNB1--MYH11    GOLGA8A--MYH11    GPI--MYH11    GPR161--MYH11    GSN--MYH11    GSTM4--MYH11    HAGH--MYH11    HDLBP--MYH11    HIF3A--MYH11    HNRNPA2B1--MYH11    HPSE2--MYH11   
HSPB1--MYH11    HTN1--MYH11    IGF2--MYH11    IGFBP5--MYH11    IGHG1--MYH11    IGHM--MYH11    IGK@--MYH11    INO80D--MYH11    INPP5D--MYH11    ITFG3--MYH11    ITGA5--MYH11    ITGA7--MYH11    ITGB1--MYH11    JUP--MYH11    KANK2--MYH11   
KLHL29--MYH11    KLK2--MYH11    KMT2A--MYH11    KRT13--MYH11    KRT4--MYH11    KRT5--MYH11    KRT6A--MYH11    KRT78--MYH11    LAG3--MYH11    LCMT1--MYH11    LGMN--MYH11    LMNA--MYH11    LMOD1--MYH11    LPIN1--MYH11    LPP--MYH11   
LRRC29--MYH11    LRRC75A-AS1--MYH11    LYZ--MYH11    MBTPS1--MYH11    MRVI1--MYH11    MSMB--MYH11    MT-ATP6--MYH11    MT-ND4--MYH11    MUC21--MYH11    MUM1--MYH11    MYH10--MYH11    MYH11--ABCC1    MYH11--ABL1    MYH11--ACADVL    MYH11--ACTG1   
MYH11--ACTG2    MYH11--ACTN1    MYH11--ADD1    MYH11--ADD2    MYH11--AES    MYH11--AHSA2    MYH11--ALDOA    MYH11--ANKS3    MYH11--AP000688.14    MYH11--AR    MYH11--ARFGEF1    MYH11--ATP5F1    MYH11--AZGP1    MYH11--BSDC1    MYH11--C11ORF31   
MYH11--C2ORF76    MYH11--C9ORF3    MYH11--CA6    MYH11--CANX    MYH11--CBF    MYH11--CBFB    MYH11--CCNI    MYH11--CD46    MYH11--CD63    MYH11--CD99    MYH11--CDK5RAP3    MYH11--CKB    MYH11--CLEC16A    MYH11--CLU    MYH11--CNN1   
MYH11--COL6A2    MYH11--CRIM1    MYH11--CTSL    MYH11--CTTN    MYH11--CXORF36    MYH11--DDX1    MYH11--DDX39B    MYH11--DES    MYH11--DMPK    MYH11--DUSP27    MYH11--EHBP1L1    MYH11--EIF2S3    MYH11--ELAC2    MYH11--EMP1    MYH11--EXOSC10   
MYH11--FADS3    MYH11--FAM118A    MYH11--FAM188A    MYH11--FBLIM1    MYH11--FBXO8    MYH11--FIBP    MYH11--FILIP1L    MYH11--FLNA    MYH11--FN1    MYH11--FTH1    MYH11--GAS6    MYH11--GEN1    MYH11--GNAS    MYH11--GOLPH3    MYH11--GPI   
MYH11--GPR157    MYH11--GSTM2    MYH11--HDGFRP2    MYH11--HP1BP3    MYH11--IGH@    MYH11--IGHG1    MYH11--IL1RN    MYH11--KANK2    MYH11--KCTD6    MYH11--KIF1C    MYH11--KRT13    MYH11--LRCH3    MYH11--MACF1    MYH11--MAP3K4    MYH11--METAP1   
MYH11--METTL9    MYH11--MINOS1-NBL1    MYH11--MT-ATP6    MYH11--MYH14    MYH11--MYH6    MYH11--MYH9    MYH11--MYL9    MYH11--NAV2    MYH11--NDE1    MYH11--NDUFA6    MYH11--NDUFB1    MYH11--NEFH    MYH11--NOL12    MYH11--NUMA1    MYH11--P4HB   
MYH11--PABPC1    MYH11--PARD3    MYH11--PBX1    MYH11--PCSK7    MYH11--PDE4D    MYH11--PDLIM5    MYH11--PIGR    MYH11--PKP4    MYH11--PLEKHO1    MYH11--PPL    MYH11--PPP1R12B    MYH11--PPT1    MYH11--PRM1    MYH11--PRM2    MYH11--PSMB1   
MYH11--PSMD1    MYH11--PTGR1    MYH11--PTRF    MYH11--RAB2A    MYH11--RAPGEF1    MYH11--RHCG    MYH11--RP1-309I22.2    MYH11--RP11-2C24.9    MYH11--RPL23A    MYH11--RPL24    MYH11--RPL3    MYH11--RTN3    MYH11--SCARB2    MYH11--SDC3    MYH11--SEMG1   
MYH11--SKOR2    MYH11--SLC24A1    MYH11--SMG1    MYH11--SMR3B    MYH11--SMTN    MYH11--SNX29    MYH11--SORBS1    MYH11--SPARCL1    MYH11--SPINK5    MYH11--SPTBN1    MYH11--SRCAP    MYH11--ST5    MYH11--STAT3    MYH11--SUN1    MYH11--SVIL   
MYH11--SYN3    MYH11--SYNM    MYH11--SYNPO2    MYH11--TAGLN    MYH11--TBC1D9B    MYH11--TBCD    MYH11--TCF25    MYH11--TGM3    MYH11--TIMP3    MYH11--TMPRSS2    MYH11--TNS1    MYH11--TPM1    MYH11--TPM2    MYH11--TRB@    MYH11--TRIM29   
MYH11--TRIO    MYH11--TYK2    MYH11--UBE2N    MYH11--USMG5    MYH11--VIM    MYH11--WNK2    MYH11--WWOX    MYH11--YWHAZ    MYH11--ZAK    MYH11--ZNF827    MYL9--MYH11    MYLK--MYH11    NBR1--MYH11    NDE1--MYH11    NDRG3--MYH11   
NKTR--MYH11    NOP9--MYH11    NPPA--MYH11    NUMA1--MYH11    OPTN--MYH11    OSMR--MYH11    P4HB--MYH11    PABPC1--MYH11    PBXIP1--MYH11    PCDH15--MYH11    PCSK7--MYH11    PDLIM5--MYH11    PDLIM7--MYH11    PDZRN4--MYH11    PEBP2--MYH11   
PIEZO1--MYH11    PLCB2--MYH11    PLEKHM2--MYH11    PLS3--MYH11    POMT2--MYH11    PPAPDC1B--MYH11    PPM1A--MYH11    PPP1R14A--MYH11    PPP1R18--MYH11    PRR4--MYH11    PSD--MYH11    PSMD4--MYH11    PTRF--MYH11    RAB11FIP3--MYH11    RAB40C--MYH11   
RAI2--MYH11    RAPGEF1--MYH11    RNF141--MYH11    RPL13--MYH11    RPRD2--MYH11    RPS15A--MYH11    RUNX1--MYH11    SEPT1--MYH11    SEPT9--MYH11    SFI1--MYH11    SIPA1--MYH11    SMARCA4--MYH11    SMG1--MYH11    SMOC2--MYH11    SORBS1--MYH11   
SORBS2--MYH11    SPOP--MYH11    SRCAP--MYH11    ST7--MYH11    SV2B--MYH11    SVIL--MYH11    SYNPO2--MYH11    TACC1--MYH11    TAGLN--MYH11    TBX2--MYH11    TCF7L2--MYH11    TINAGL1--MYH11    TLN1--MYH11    TMEM39B--MYH11    TNS1--MYH11   
TPM1--MYH11    TPM2--MYH11    TRIM37--MYH11    TSC2--MYH11    TUB--MYH11    VCAN--MYH11    VIM--MYH11    WASF2--MYH11    WDR91--MYH11    XYLT1--MYH11    YJEFN3--MYH11    ZKSCAN1--MYH11    ZNF771--MYH11   
Fusion : QuiverMYH11
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYH11 [hg38]
Exome Variant ServerMYH11
GNOMAD BrowserENSG00000133392
Varsome BrowserMYH11
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]  
Somatic Mutations in Cancer : COSMIC3DMYH11
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)
NCG6 (London) select 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]
ClinGenMYH11 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTD
Pharm GKB GenePA31367
Clinical trialMYH11
canSAR (ICR)MYH11 (select the gene name)
DataMed IndexMYH11
PubMed95 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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