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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 namemyosin, 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 , 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 , 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) [ 8 ]
  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
Therapy-Related Hematopoietic Neoplasia
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
AliasesAAT4; FAA4; SMHC; SMMHC; 
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   619350   619351   
Gene and transcription
Genbank (Entrez)AA552189 AB020673 AF013570 AF020091 AK125033
RefSeq transcript (Entrez)NM_001040113 NM_001040114 NM_002474 NM_022844
Consensus coding sequences : CCDS (NCBI)MYH11
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
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
AlphaFold pdb e-kbP35749   
Human Protein Atlas [tissue]ENSG00000133392-MYH11 [tissue]
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  actin filament binding  cardiac muscle cell development  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  actin filament binding  cardiac muscle cell development  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 : QuiverMYH11
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYH11 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH11
Exome Variant ServerMYH11
GNOMAD BrowserENSG00000133392
Varsome BrowserMYH11
ACMGMYH11 variants
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)[gene] [transcripts] [variants]
DgiDB (Drug Gene Interaction Database)MYH11
DoCM (Curated mutations)MYH11
CIViC (Clinical Interpretations of Variants in Cancer)MYH11
NCG (London)MYH11
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM132900    160745    619350    619351   
Orphanet2113    3258    12138    13846   
Genetic Testing Registry MYH11
NextProtP35749 [Medical]
Target ValidationMYH11
Huge Navigator MYH11 [HugePedia]
ClinGenMYH11 (curated)
Clinical trials, drugs, therapy
Protein Interactions : CTDMYH11
Pharm GKB GenePA31367
Clinical trialMYH11
DataMed IndexMYH11
PubMed104 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 : Fri Oct 8 21:23:17 CEST 2021

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