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

Identity

Other namesMyosin heavy chain, nonmuscle type A
Nonmuscle myosin heavy chain-A (NMMHC-A)
HGNC (Hugo) MYH9
LocusID (NCBI) 4627
Location 22q12.3
Location_base_pair Starts at 36677323 and ends at 36784063 bp from pter ( according to hg19-Feb_2009)  [Mapping]

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

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
  

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945

External links

Nomenclature
HGNC (Hugo)MYH9   7579
Cards
AtlasMYH9ID481
Entrez_Gene (NCBI)MYH9  4627  myosin, heavy chain 9, non-muscle
GeneCards (Weizmann)MYH9
Ensembl hg19 (Hinxton)ENSG00000100345 [Gene_View]  chr22:36677323-36784063 [Contig_View]  MYH9 [Vega]
Ensembl hg38 (Hinxton)ENSG00000100345 [Gene_View]  chr22:36677323-36784063 [Contig_View]  MYH9 [Vega]
ICGC DataPortalENSG00000100345
cBioPortalMYH9
AceView (NCBI)MYH9
Genatlas (Paris)MYH9
WikiGenes4627
SOURCE (Princeton)MYH9
Genomic and cartography
GoldenPath hg19 (UCSC)MYH9  -     chr22:36677323-36784063 -  22q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)MYH9  -     22q13.1   [Description]    (hg38-Dec_2013)
EnsemblMYH9 - 22q13.1 [CytoView hg19]  MYH9 - 22q13.1 [CytoView hg38]
Mapping of homologs : NCBIMYH9 [Mapview hg19]  MYH9 [Mapview hg38]
OMIM153640   153650   155100   160775   600208   603622   605249   
Gene and transcription
Genbank (Entrez)AB191263 AB290175 AK025219 AK025393 AK131080
RefSeq transcript (Entrez)NM_002473
RefSeq genomic (Entrez)AC_000154 NC_000022 NC_018933 NG_011884 NT_011520 NW_001838745 NW_004929430
Consensus coding sequences : CCDS (NCBI)MYH9
Cluster EST : UnigeneHs.474751 [ NCBI ]
CGAP (NCI)Hs.474751
Alternative Splicing : Fast-db (Paris)GSHG0020354
Alternative Splicing GalleryENSG00000100345
Gene ExpressionMYH9 [ NCBI-GEO ]     MYH9 [ SEEK ]   MYH9 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35579 (Uniprot)
NextProtP35579  [Medical]
With graphics : InterProP35579
Splice isoforms : SwissVarP35579 (Swissvar)
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    Regulat_G_prot_signal_superfam   
Related proteins : CluSTrP35579
Domain families : Pfam (Sanger)IQ (PF00612)    Myosin_head (PF00063)    Myosin_N (PF02736)    Myosin_tail_1 (PF01576)   
Domain families : Pfam (NCBI)pfam00612    pfam00063    pfam02736    pfam01576   
Domain families : Smart (EMBL)IQ (SM00015)  MYSc (SM00242)  
DMDM Disease mutations4627
Blocks (Seattle)P35579
PDB (SRS)2LNK    3ZWH    4ETO   
PDB (PDBSum)2LNK    3ZWH    4ETO   
PDB (IMB)2LNK    3ZWH    4ETO   
PDB (RSDB)2LNK    3ZWH    4ETO   
Human Protein AtlasENSG00000100345
Peptide AtlasP35579
HPRD01177
IPIIPI00019502   IPI00395772   IPI00742780   IPI00878695   IPI00556012   
Protein Interaction databases
DIP (DOE-UCLA)P35579
IntAct (EBI)P35579
FunCoupENSG00000100345
BioGRIDMYH9
IntegromeDBMYH9
STRING (EMBL)MYH9
Ontologies - Pathways
QuickGOP35579
Ontology : AmiGOmicrofilament motor activity  meiotic spindle organization  cytokinesis  angiogenesis  in utero embryonic development  stress fiber  ruffle  establishment of T cell polarity  immunological synapse  uropod  motor activity  actin binding  protein binding  calmodulin binding  ATP binding  nucleus  cytoplasm  spindle  actomyosin contractile ring  cytosol  plasma membrane  plasma membrane  cell-cell adherens junction  ATP catabolic process  membrane protein ectodomain proteolysis  integrin-mediated signaling pathway  axon guidance  myoblast fusion  COP9 signalosome  integrin complex  regulation of cell shape  protein transport  actin cytoskeleton  membrane  single organismal cell-cell adhesion  myosin II complex  ATPase activity  actin filament-based movement  platelet formation  monocyte differentiation  cortical cytoskeleton  actin-dependent ATPase activity  actin-dependent ATPase activity  actomyosin structure organization  cell leading edge  actin cytoskeleton reorganization  neuromuscular junction  cleavage furrow  uropod organization  termination of G-protein coupled receptor signaling pathway  actomyosin  protein homodimerization activity  protein complex  protein anchor  ADP binding  blood vessel endothelial cell migration  poly(A) RNA binding  leukocyte migration  actin filament binding  actin filament binding  actin filament binding  establishment of meiotic spindle localization  extracellular vesicular exosome  myosin II filament  
Ontology : EGO-EBImicrofilament motor activity  meiotic spindle organization  cytokinesis  angiogenesis  in utero embryonic development  stress fiber  ruffle  establishment of T cell polarity  immunological synapse  uropod  motor activity  actin binding  protein binding  calmodulin binding  ATP binding  nucleus  cytoplasm  spindle  actomyosin contractile ring  cytosol  plasma membrane  plasma membrane  cell-cell adherens junction  ATP catabolic process  membrane protein ectodomain proteolysis  integrin-mediated signaling pathway  axon guidance  myoblast fusion  COP9 signalosome  integrin complex  regulation of cell shape  protein transport  actin cytoskeleton  membrane  single organismal cell-cell adhesion  myosin II complex  ATPase activity  actin filament-based movement  platelet formation  monocyte differentiation  cortical cytoskeleton  actin-dependent ATPase activity  actin-dependent ATPase activity  actomyosin structure organization  cell leading edge  actin cytoskeleton reorganization  neuromuscular junction  cleavage furrow  uropod organization  termination of G-protein coupled receptor signaling pathway  actomyosin  protein homodimerization activity  protein complex  protein anchor  ADP binding  blood vessel endothelial cell migration  poly(A) RNA binding  leukocyte migration  actin filament binding  actin filament binding  actin filament binding  establishment of meiotic spindle localization  extracellular vesicular exosome  myosin II filament  
Pathways : KEGGTight junction    Regulation of actin cytoskeleton    Salmonella infection   
REACTOMEP35579 [protein]
REACTOME PathwaysREACT_111045 Developmental Biology [pathway]
REACTOME PathwaysREACT_6900 Immune System [pathway]
Protein Interaction DatabaseMYH9
DoCM (Curated mutations)MYH9
Wikipedia pathwaysMYH9
Gene fusion - rearrangements
Rearrangement : TICdbMYH9 [22q12.3]  -  ALK [Xq28]
Polymorphisms : SNP, variants
NCBI Variation ViewerMYH9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)MYH9
dbVarMYH9
ClinVarMYH9
1000_GenomesMYH9 
Exome Variant ServerMYH9
SNP (GeneSNP Utah)MYH9
SNP : HGBaseMYH9
Genetic variants : HAPMAPMYH9
Genomic VariantsMYH9  MYH9 [DGVbeta]
Mutations
ICGC Data PortalENSG00000100345 
Cancer Gene: CensusMYH9 
Somatic Mutations in Cancer : COSMICMYH9 
CONAN: Copy Number AnalysisMYH9 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)22:36677323-36784063
Mutations and Diseases : HGMDMYH9
OMIM153640    153650    155100    160775    600208    603622    605249   
MedgenMYH9
NextProtP35579 [Medical]
GENETestsMYH9
Disease Genetic AssociationMYH9
Huge Navigator MYH9 [HugePedia]  MYH9 [HugeCancerGEM]
snp3D : Map Gene to Disease4627
DGIdb (Drug Gene Interaction db)MYH9
General knowledge
Homologs : HomoloGeneMYH9
Homology/Alignments : Family Browser (UCSC)MYH9
Phylogenetic Trees/Animal Genes : TreeFamMYH9
Chemical/Protein Interactions : CTD4627
Chemical/Pharm GKB GenePA31377
Clinical trialMYH9
Cancer Resource (Charite)ENSG00000100345
Other databases
Probes
Litterature
PubMed271 Pubmed reference(s) in Entrez
CoreMineMYH9
GoPubMedMYH9
iHOPMYH9

Bibliography

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
 
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
 
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
 
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
 
Five (un)easy pieces: the MYH9-related giant platelet syndromes.
Martignetti J
Haematologica. 2002 ; 87 (9) : 897-898.
PMID 12217798
 
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
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written08-2003Jean-Loup Huret

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/MYH9ID481.html

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indexed on : Sun Dec 21 02:50:32 CET 2014

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