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MYH9 (myosin, heavy polypeptide 9, non-muscle)

Written2003-08Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias_namesDFNA17
myosin
Alias_symbol (synonym)NMMHCA
NMHC-II-A
MHA
FTNS
EPSTS
Other aliasMyosin heavy chain, nonmuscle type A
Nonmuscle myosin heavy chain-A (NMMHC-A)
HGNC (Hugo) MYH9
LocusID (NCBI) 4627
Atlas_Id 481
Location 22q12.3  [Link to chromosome band 22q12]
Location_base_pair Starts at 36281277 and ends at 36388067 bp from pter ( according to hg19-Feb_2009)  [Mapping MYH9.png]
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
AGAP1 (2q37.2) / MYH9 (22q12.3)ALK (2p23.2) / MYH9 (22q12.3)CHMP2B (3p11.2) / MYH9 (22q12.3)
EEF1G (11q12.3) / MYH9 (22q12.3)FOXRED2 (22q12.3) / MYH9 (22q12.3)GALNT10 (5q33.2) / MYH9 (22q12.3)
IPO7 (11p15.4) / MYH9 (22q12.3)IRX3 (16q12.2) / MYH9 (22q12.3)MYH9 (22q12.3) / ALK (2p23.2)
MYH9 (22q12.3) / ATP6V0B (1p34.1)MYH9 (22q12.3) / C20orf96 (20p13)MYH9 (22q12.3) / CD81 (11p15.5)
MYH9 (22q12.3) / CFDP1 (16q23.1)MYH9 (22q12.3) / CHCHD3 (7q32.3)MYH9 (22q12.3) / EIF3D (22q12.3)
MYH9 (22q12.3) / FAM160A2 (11p15.4)MYH9 (22q12.3) / FLNA (Xq28)MYH9 (22q12.3) / FOXRED2 (22q12.3)
MYH9 (22q12.3) / JUP (17q21.2)MYH9 (22q12.3) / MYH9 (22q12.3)MYH9 (22q12.3) / NCL (2q37.1)
MYH9 (22q12.3) / NUCB1 (19q13.33)MYH9 (22q12.3) / PITHD1 (1p36.11)MYH9 (22q12.3) / PML (15q24.1)
MYH9 (22q12.3) / PSME1 (14q12)MYH9 (22q12.3) / RAPGEF1 (9q34.13)MYH9 (22q12.3) / SERPINA1 (14q32.13)
MYH9 (22q12.3) / SLC44A4 (6p21.33)MYH9 (22q12.3) / TXN2 (22q12.3)MYH9 (22q12.3) / USP6 (17p13.2)
OS9 (12q13.3) / MYH9 (22q12.3)PSMA1 (11p15.2) / MYH9 (22q12.3)PTMS (12p13.31) / MYH9 (22q12.3)
RAB2A (8q12.1) / MYH9 (22q12.3)RPL11 (1p36.11) / MYH9 (22q12.3)RPL13 (16q24.3) / MYH9 (22q12.3)
RPS20 (8q12.1) / MYH9 (22q12.3)SECISBP2 (9q22.2) / MYH9 (22q12.3)SMR3B (4q13.3) / MYH9 (22q12.3)
TGFBI (5q31.1) / MYH9 (22q12.3)TPM2 (9p13.3) / MYH9 (22q12.3)UBTF (17q21.31) / MYH9 (22q12.3)
WDR60 (7q36.3) / MYH9 (22q12.3)

DNA/RNA

Description spans 107 kb; 40 exons
Transcription alternate splicing; transcripts of 4.4, 5.3 and 5.9 kb

Protein

Description 1960 amino acids; 227 kDa (and 1752 aa, 202 kDa, and 1486 aa, 172 kDa; globular head in N-term and a coiled-coil tail in C-term; actin binding site and light chains binding site are present in the globular domain. Myosin forms hexamers with 2 heavy chains, 2 essential (alkali) light chains, and 2 regulatory light chains
Expression in platelets; upregulated during granulocyte differentiation (see below); also expressed in thymus, spleen, kidney, intestine, cochlea ....
Function binds actin; protein of the cytoskeleton; role in cell shape and motility, and in cell division

Mutations

Germinal in autosomal dominant giant-platelet disorders
Somatic in non Hodgkin lymphomas

Implicated in

Note
Disease The autosomal dominant giant-platelet disorders, May-Hegglin anomaly (MHA), Fechtner syndrome (FTNS), and Sebastian syndrome (SBS), which share a triad of thrombocytopenia, large platelets (macrothrombocytopenia (MTCP)) and characteristic leukocyte inclusions (Dohle-like bodies), Epstein syndrome, which associates additional Alport-like clinical features (inherited sensorineural deafness, cataracts, nephritis), and MTCP without leukocyte inclusions, as well as a nonsyndromic hereditary hearing impairment are all caused by (germinal) mutations in MYH9. These disorders appear to represent a class of allelic disorders with variable phenotypic diversity. No clear no genotype-phenotype correlation was identified
  
  
Entity Anaplasic large cell lymphoma (ALCL) with t(2;22)(p23;q12) --> ALK- CLTC
Disease ALCL are high grade non Hodgkin lymphomas; ALK+ ALCL are ALCL where ALK is involved in a fusion gene; ALK+ ALCL represent 50 to 60 % of ALCL cases (they are CD30+, ALK+;); belong to the "cytoplasmic ALK+" subset.
Prognosis Althouth presenting as a high grade tumour, a 80% five yr survival is associated with this anomaly
Hybrid/Mutated Gene 5' MYH9 - 3' ALK
Abnormal Protein NH2 MYH9 - COOH ALK
  

Bibliography

Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly.
Kelley MJ, Jawien W, Ortel TL, Korczak JF
Nature genetics. 2000 ; 26 (1) : 106-108.
PMID 10973260
 
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi YM, Hosaka N, Inoue M, Jung Y, Mamiya S, Matsumoto K, Miyajima Y, Zhang G, Ruan C, Saito K, Song KS, Yoon HJ, Kamiya T, Saito H
Journal of human genetics. 2001 ; 46 (12) : 722-729.
PMID 11776386
 
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.
Lalwani AK, Goldstein JA, Kelley MJ, Luxford W, Castelein CM, Mhatre AN
American journal of human genetics. 2000 ; 67 (5) : 1121-1128.
PMID 11023810
 
Non-muscle myosin heavy chain (MYH9): a new partner fused to ALK in anaplastic large cell lymphoma.
Lamant L, Gascoyne RD, Duplantier MM, Armstrong F, Raghab A, Chhanabhai M, Rajcan-Separovic E, Raghab J, Delsol G, Espinos E
Genes, chromosomes & cancer. 2003 ; 37 (4) : 427-432.
PMID 12800156
 
Five (un)easy pieces: the MYH9-related giant platelet syndromes.
Martignetti J
Haematologica. 2002 ; 87 (9) : 897-898.
PMID 12217798
 
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
Nature genetics. 2000 ; 26 (1) : 103-105.
PMID 10973259
 
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A
Medicine. 2003 ; 82 (3) : 203-215.
PMID 12792306
 

Citation

This paper should be referenced as such :
Huret, JL
MYH9 (myosin, heavy polypeptide 9, non-muscle)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):228-229.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/MYH9ID481.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Anaplastic large cell lymphoma (ALCL)
t(2;22)(p23;q11) MYH9/ALK

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  Soft tissue tumors: an overview
t(2;22)(p23;q12) MYH9/ALK
t(5;22)(q31;q12) TGFBI/MYH9
t(15;22)(q25;q12) MYH9/NTRK3
t(17;22)(p13;q12) MYH9/USP6
t(22;22)(q12;q12) MYH9/EIF3D

External links

Nomenclature
HGNC (Hugo)MYH9   7579
LRG (Locus Reference Genomic)LRG_567
Cards
AtlasMYH9ID481
Entrez_Gene (NCBI)MYH9  4627  myosin heavy chain 9
AliasesBDPLT6; DFNA17; EPSTS; FTNS; 
MHA; NMHC-II-A; NMMHC-IIA; NMMHCA
GeneCards (Weizmann)MYH9
Ensembl hg19 (Hinxton)ENSG00000100345 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100345 [Gene_View]  chr22:36281277-36388067 [Contig_View]  MYH9 [Vega]
ICGC DataPortalENSG00000100345
TCGA cBioPortalMYH9
AceView (NCBI)MYH9
Genatlas (Paris)MYH9
WikiGenes4627
SOURCE (Princeton)MYH9
Genetics Home Reference (NIH)MYH9
Genomic and cartography
GoldenPath hg38 (UCSC)MYH9  -     chr22:36281277-36388067 -  22q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)MYH9  -     22q12.3   [Description]    (hg19-Feb_2009)
EnsemblMYH9 - 22q12.3 [CytoView hg19]  MYH9 - 22q12.3 [CytoView hg38]
Mapping of homologs : NCBIMYH9 [Mapview hg19]  MYH9 [Mapview hg38]
OMIM153640   153650   155100   160775   600208   603622   605249   
Gene and transcription
Genbank (Entrez)AA420536 AB191263 AB290175 AK025219 AK025393
RefSeq transcript (Entrez)NM_002473
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)MYH9
Cluster EST : UnigeneHs.474751 [ NCBI ]
CGAP (NCI)Hs.474751
Alternative Splicing GalleryENSG00000100345
Gene ExpressionMYH9 [ NCBI-GEO ]   MYH9 [ EBI - ARRAY_EXPRESS ]   MYH9 [ SEEK ]   MYH9 [ MEM ]
Gene Expression Viewer (FireBrowse)MYH9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4627
GTEX Portal (Tissue expression)MYH9
Human Protein AtlasENSG00000100345-MYH9 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35579   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35579  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35579
Splice isoforms : SwissVarP35579
PhosPhoSitePlusP35579
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    RGS   
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)MYH9
DMDM Disease mutations4627
Blocks (Seattle)MYH9
PDB (SRS)2LNK    3ZWH    4CFQ    4CFR    4ETO   
PDB (PDBSum)2LNK    3ZWH    4CFQ    4CFR    4ETO   
PDB (IMB)2LNK    3ZWH    4CFQ    4CFR    4ETO   
PDB (RSDB)2LNK    3ZWH    4CFQ    4CFR    4ETO   
Structural Biology KnowledgeBase2LNK    3ZWH    4CFQ    4CFR    4ETO   
SCOP (Structural Classification of Proteins)2LNK    3ZWH    4CFQ    4CFR    4ETO   
CATH (Classification of proteins structures)2LNK    3ZWH    4CFQ    4CFR    4ETO   
SuperfamilyP35579
Human Protein Atlas [tissue]ENSG00000100345-MYH9 [tissue]
Peptide AtlasP35579
HPRD01177
IPIIPI00019502   IPI00395772   IPI00742780   IPI00878695   IPI00556012   
Protein Interaction databases
DIP (DOE-UCLA)P35579
IntAct (EBI)P35579
FunCoupENSG00000100345
BioGRIDMYH9
STRING (EMBL)MYH9
ZODIACMYH9
Ontologies - Pathways
QuickGOP35579
Ontology : AmiGOmicrofilament motor activity  meiotic spindle organization  angiogenesis  in utero embryonic development  stress fiber  ruffle  establishment of T cell polarity  immunological synapse  uropod  RNA binding  motor activity  microtubule motor activity  actin binding  protein binding  calmodulin binding  ATP binding  nucleus  cytoplasm  spindle  actomyosin contractile ring  cytosol  cytosol  plasma membrane  plasma membrane  brush border  cell-cell adherens junction  focal adhesion  membrane protein ectodomain proteolysis  phagocytosis, engulfment  microtubule-based movement  integrin-mediated signaling pathway  myoblast fusion  microtubule binding  COP9 signalosome  integrin complex  regulation of cell shape  protein transport  actin cytoskeleton  membrane  myosin II complex  ATPase activity  protein domain specific binding  actin filament-based movement  platelet formation  monocyte differentiation  actin-dependent ATPase activity  actin-dependent ATPase activity  extracellular matrix  actomyosin structure organization  cell leading edge  actin cytoskeleton reorganization  neuromuscular junction  cleavage furrow  cytokinetic process  uropod organization  actomyosin  protein homodimerization activity  protein complex  protein membrane anchor  ADP binding  blood vessel endothelial cell migration  cadherin binding  leukocyte migration  actin filament binding  actin filament binding  actin filament binding  establishment of meiotic spindle localization  extracellular exosome  platelet aggregation  myosin II filament  negative regulation of actin filament severing  negative regulation of actin filament severing  positive regulation of protein processing in phagocytic vesicle  
Ontology : EGO-EBImicrofilament motor activity  meiotic spindle organization  angiogenesis  in utero embryonic development  stress fiber  ruffle  establishment of T cell polarity  immunological synapse  uropod  RNA binding  motor activity  microtubule motor activity  actin binding  protein binding  calmodulin binding  ATP binding  nucleus  cytoplasm  spindle  actomyosin contractile ring  cytosol  cytosol  plasma membrane  plasma membrane  brush border  cell-cell adherens junction  focal adhesion  membrane protein ectodomain proteolysis  phagocytosis, engulfment  microtubule-based movement  integrin-mediated signaling pathway  myoblast fusion  microtubule binding  COP9 signalosome  integrin complex  regulation of cell shape  protein transport  actin cytoskeleton  membrane  myosin II complex  ATPase activity  protein domain specific binding  actin filament-based movement  platelet formation  monocyte differentiation  actin-dependent ATPase activity  actin-dependent ATPase activity  extracellular matrix  actomyosin structure organization  cell leading edge  actin cytoskeleton reorganization  neuromuscular junction  cleavage furrow  cytokinetic process  uropod organization  actomyosin  protein homodimerization activity  protein complex  protein membrane anchor  ADP binding  blood vessel endothelial cell migration  cadherin binding  leukocyte migration  actin filament binding  actin filament binding  actin filament binding  establishment of meiotic spindle localization  extracellular exosome  platelet aggregation  myosin II filament  negative regulation of actin filament severing  negative regulation of actin filament severing  positive regulation of protein processing in phagocytic vesicle  
Pathways : KEGGRegulation of actin cytoskeleton    Tight junction   
REACTOMEP35579 [protein]
REACTOME PathwaysR-HSA-5627123 [pathway]   
NDEx NetworkMYH9
Atlas of Cancer Signalling NetworkMYH9
Wikipedia pathwaysMYH9
Orthology - Evolution
OrthoDB4627
GeneTree (enSembl)ENSG00000100345
Phylogenetic Trees/Animal Genes : TreeFamMYH9
HOVERGENP35579
HOGENOMP35579
Homologs : HomoloGeneMYH9
Homology/Alignments : Family Browser (UCSC)MYH9
Gene fusions - Rearrangements
Fusion : MitelmanMYH9/ALK [22q12.3/2p23.2]  
Fusion : MitelmanMYH9/EIF3D [22q12.3/22q12.3]  [t(22;22)(q12;q12)]  
Fusion : MitelmanMYH9/USP6 [22q12.3/17p13.2]  [t(17;22)(p13;q12)]  
Fusion : MitelmanTGFBI/MYH9 [5q31.1/22q12.3]  [t(5;22)(q31;q12)]  
Fusion : TICdbMYH9 [22q12.3]  -  ALK [2p23.2]
Fusion Cancer (Beijing)MYH9 [22q12.3]  -  FLNA [Xq28]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]  [FUSC002461]
Fusion : QuiverMYH9
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerMYH9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH9
dbVarMYH9
ClinVarMYH9
1000_GenomesMYH9 
Exome Variant ServerMYH9
ExAC (Exome Aggregation Consortium)ENSG00000100345
GNOMAD BrowserENSG00000100345
Genetic variants : HAPMAP4627
Genomic Variants (DGV)MYH9 [DGVbeta]
DECIPHERMYH9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisMYH9 
Mutations
ICGC Data PortalMYH9 
TCGA Data PortalMYH9 
Broad Tumor PortalMYH9
OASIS PortalMYH9 [ Somatic mutations - Copy number]
Cancer Gene: CensusMYH9 
Somatic Mutations in Cancer : COSMICMYH9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDMYH9
intOGen PortalMYH9
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch MYH9
DgiDB (Drug Gene Interaction Database)MYH9
DoCM (Curated mutations)MYH9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)MYH9 (select a term)
intoGenMYH9
NCG5 (London)MYH9
Cancer3DMYH9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM153640    153650    155100    160775    600208    603622    605249   
Orphanet18198    12046   
DisGeNETMYH9
MedgenMYH9
Genetic Testing Registry MYH9
NextProtP35579 [Medical]
TSGene4627
GENETestsMYH9
Target ValidationMYH9
Huge Navigator MYH9 [HugePedia]
snp3D : Map Gene to Disease4627
BioCentury BCIQMYH9
ClinGenMYH9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4627
Chemical/Pharm GKB GenePA31377
Clinical trialMYH9
Miscellaneous
canSAR (ICR)MYH9 (select the gene name)
Probes
Litterature
PubMed349 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineMYH9
EVEXMYH9
GoPubMedMYH9
iHOPMYH9
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon May 14 12:48:03 CEST 2018
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