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FLASH GENE
Symbol MYH9 contributors: mct/pgu - updated : 06-07-2018
HGNC name myosin, heavy chain 9, non-muscle
HGNC id 7579
Corresponding disease
DFNA17 neurosensory deafness 17
FTNS Fechtner syndrome
MHA May-Hegglin anomaly
Location 22q12.3      Physical location : 36.677.323 - 36.784.063
Synonym name
  • non muscle, myosin heavy chain, type A
  • cellular myosin heavy chain, type A
  • myosin IIA heavy chain
  • myosin, heavy polypeptide 9, non-muscle
  • myosin 2A
  • Synonym symbol(s) NMHC-A, NMIIA, NMMHCA, NMHC-II-A, EPSTS, MGC104539, NMMIIA, NM2A
    DNA
    TYPE functioning gene
    STRUCTURE 106.66 kb     41 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure exon A including the promoter and 40 coding exons
    MAPPING cloned Y linked Y status confirmed
    Map cen - D22S1142 - D22S1173 - D22S283 - D22S1746 - D22S1745 - MYH9 - D22S1747 - qter
    Authors Heath (01)
    Physical map
    COX7BP1 22q13 cytochrome c oxidase subunit VIIb pseudogene 1 HMG2L1 22q13.1 high-mobility group protein 2-like 1 LOC388897 22 LOC388897 TOM1 22q13.1 target of myb1 (chicken) HMOX1 22q13.1 heme oxygenase (decycling) 1 MCM5 22q13.1 MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae) RASD2 22q13.1 RASD family, member 2 MB 22q13.1 myoglobin LOC284912 22q13.1 hypothetical gene supported by BC001801 APOL6 22q13.1 apolipoprotein L, 6 MRPS16P3 22q12-q13.1 apolipoprotein L, 6 APOL5 22q13.1 apolipoprotein L, 5 RBM9 22q13.1 RNA binding motif protein 9 RPL41P3 22q13.1 ribosomal protein L41, pseudogene 3 NDUFA9P1 22q12.3 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, pseudogene 1 APOL3 22q13.1 apolipoprotein L, 3 APOL4 22q13.1 apolipoprotein L, 4 APOL2 22q13.1 apolipoprotein L, 2 APOL1 22q13.1 apolipoprotein L, 1 MYH9 22q13.1 myosin, heavy polypeptide 9, non-muscle LOC388898 22 LOC388898 TXN2 22q13.1 thioredoxin 2 FLJ23322 22q13.1 hypothetical protein FLJ23322 EIF3S7 22q13.1 eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa CACNG2 22q13.1 calcium channel, voltage-dependent, gamma subunit 2 RABL4 22q13.1 RAB, member of RAS oncogene family-like 4 PVALB 22q13.1 parvalbumin NCF4 22q13.1 neutrophil cytosolic factor 4, 40kDa CSF2RB 22q13.1 colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) CSF2RB2 22q13.1 colony stimulating factor 2 receptor, beta, 2 MGC35206 22q13.1 hypothetical protein MGC35206 TST 22q13.1 thiosulfate sulfurtransferase (rhodanese) MPST 22q13.1 mercaptopyruvate sulfurtransferase FLJ12242 22q13.1 hypothetical protein FLJ12242 TMPRSS6 22q13.1 transmembrane serine protease 6 IL2RB 22q13.1 interleukin 2 receptor, beta C1QTNF6 22q13.1 C1q and tumor necrosis factor related protein 6 SSTR3 22q13.1 somatostatin receptor 3 RAC2 22q13.1 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) PSCD4 22q13.1 pleckstrin homology, Sec7 and coiled-coil domains 4
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    41 - 7505 226 1960 - 2004 14594953
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon highly
     liver    
    Hearing/EquilibriumearinnercochleaCorti  Homo sapiens
    Respiratoryrespiratory tractlarynx  highly
    Urinarykidneynephronrenal capsuleglomerulus 
    Visualeye    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Epithelialbarrier/liningcollecting tubule  
    MembranesensoryReissner  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticgranulocyte
    Blood/Hematopoieticmonocyte
    Blood/Hematopoieticplatelet
    Urinarypodocyte
    cell lineage megakaryocytic and granulocytic lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • globular head associating to the light chain and containing actin and ATP binding sites
  • a neck containing IQ calmodulin or calmodulin-like light chain binding domain (the converter) connected to the base of a long alpha helical coiled coil tail
  • C-terminal region of the myosin heavy chain supersedes the distinct motor properties of MYH9 and MYH10 as the predominant factor directing isoform-specific distribution
  • mono polymer hexamer
    HOMOLOGY
    interspecies homolog to C.elegans f52b10.1
    Homologene
    FAMILY
  • conventional moesin, class II family
  • CATEGORY motor/contractile
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • playing a role in cytokinesis, cell shape, and specialized functions such as secretion and capping
  • reorganizing the cytoskeleton in megakaryocytes and required for efficient platelet production
  • playing a role in the development and maintenance of auditory function
  • required for a critical step between natural killer immunological synapse formation and granule exocytosis )
  • negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway
  • with MYH14, modulates neuronal cell adhesion
  • myosins IIA and IIB (MYH9 and MYH10), participate in neuronal adhesion, outgrowth and retraction
  • directly regulates cellular patterning and alignment within the cochlear sensory epithelium
  • MYH9, MYH10, MYH14 are involved in regulating cardiac myocyte karyokinesis by affecting microtubule dynamics
  • MYH9, MYH10, MYH14 are a group of molecular motors involved in a wide variety of cellular processes including cytokinesis, migration, and control of cell morphology
  • although MYH9 and MYH10 form filaments with similar properties, MYH14 forms filaments that are less well suited to roles such as tension maintenance within the cell
  • distribution of organelles within platelets critically depends on a homogeneous organelle distribution within megakaryocyte (MK) and preplatelet fragments, which requires MYH9
  • role for MYH9 and MYH10 as negative regulators of proliferation in the mammary epithelium
  • MYH9 plays a role in steering migration by maintaining stable protrusions in the anterior region, whereas MYH10 plays a role in maintenance of front-rear polarity by preventing aberrant protrusion formation in the posterior region
  • CELLULAR PROCESS cell cycle, division
    PHYSIOLOGICAL PROCESS
    text
  • cytokinesis, phagocytosis
  • PATHWAY
    metabolism
    signaling sensory transduction/hearing
    a component
  • two heavy chains, two alkali light chains and two regulatory light chains
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with MEN1
  • MYH9 is functionally linked to megalin by interaction with DAB2 and is likely involved in megalin-mediated endocytosis in proximal tubule cells
  • MYH9 is a key cytoskeleton motor protein that facilitates vesicle trafficking during TRIM72-mediated cell membrane repair
  • MYBPH inhibited MYH9 assembly and reduced cell motility
  • is the master regulator of Golgi fragmentation induced by heat shock or inhibition/depletion of HSPA4/HSPAA1
  • role for ARL13B in actin cytoskeleton remodeling through the interaction with MYH9, by driving the formation of circular dorsal ruffles (CDRs) necessary for cell migration
  • FLII interacts with MYH9 to promote cell extension formation, which enables collagen remodeling in fibroblasts
  • ASAP1 is a positive regulator of MYH9
  • SDCCAG8 interacts with proteins of the centriolar satellites (OFD1, CEP131), of the endosomal sorting complex (RABEP2, ERC1), and with non-muscle myosin motor proteins (MYH9, MYH10, MYH14) at the centrosome
  • Ca2+ influx through the TRPV4 channel regulates FLII-MYH9 interaction, which in turn enables generation of the cell extensions essential for collagen remodeling
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DFNA17 , MHA , FTNS
    related resource FHC Mutation Database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral fusion      
    fused with ALK int(2;22)(p23;q11.2) in anaplastic large cell lymphoma
    Susceptibility
  • to focal segmental glomerulosclerosis (major risk), and to hypertensive end-stage kidney diseases
  • to nonsyndromic cleft lip with or without cleft palate
  • non-diabetic chronic kidney disease (CKD)
  • Variant & Polymorphism SNP
  • increasing risk of focal segmental glomerulosclerosis and hypertensive end-stage kidney diseases
  • associated to nonsyndromic cleft lip with or without cleft palate
  • polymorphism rs4821480 is associated with an increased risk of non-diabetic CKD
  • Candidate gene
    Marker
  • MYH9 expression might serve as a reliable predictor for overall survival in acute myeloid leukemia patients
  • Therapy target
    ANIMAL & CELL MODELS