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FLASH GENE
Symbol MYL9 contributors: mct/npt/pgu - updated : 24-06-2009
HGNC name myosin, light chain 9, regulatory
HGNC id 15754
Location 20q11.23      Physical location : 35.169.896 - 35.178.226
Synonym name
  • myosin, light polypeptide 9, regulatory
  • myosin regulatory light chain 2, smooth muscle isoform
  • myosin regulatory light chain 1
  • Synonym symbol(s) MLC2, MYRL2, MLRN, LC20, MRLC1, MGC3505, MLC-2C, MLC20
    DNA
    TYPE functioning gene
    STRUCTURE 8.33 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC375095 20q11.23 similar to dJ309K20.1.1 (novel protein similar to dysferlin, isoform 1) SPAG4 20q11.2 sperm associated antigen 4 CPNE1 20q11.21 copine I RBM12 20q11.21 RNA binding motif protein 12 NFS1 20q11-q12 NFS1 nitrogen fixation 1 (S. cerevisiae) C20orf52 20q11.23 chromosome 20 open reading frame 52 RNPC2 20q11.21 RNA-binding region (RNP1, RRM) containing 2 C20orf53 20 chromosome 20 open reading frame 53 C20orf104 20q11.22-q11.23 chromosome 20 open reading frame 104 SCAND1 20q11.1-q11.23 SCAN domain containing 1 C20orf152 20q11.23 chromosome 20 open reading frame 152 HMG4L2 20q11.23 high-mobility group (nonhistone chromosomal) protein 4-like 2 EPB41L1 20q11.2-q12 erythrocyte membrane protein band 4.1-like 1 C20orf4 20pter-q12 chromosome 20 open reading frame 4 DAP4 20q11.23 disks large-associated protein 4 MYL9 20q11.22 myosin, light polypeptide 9, regulatory TGIF2 20q11.2-q12 TGFB-induced factor 2 (TALE family homeobox) C20orf24 20q11.23 chromosome 20 open reading frame 24 SLA2 20q11.22 Src-like-adaptor 2 NDRG3 20q11.21-q11.23 NDRG family member 3 C20orf172 20q11.23 chromosome 20 open reading frame 172 KIAA0889 20q11.23 KIAA0889 protein LOC343574 20q11.23 similar to dJ132F21.2 (Contains a novel protein similar to the L82E from Drosophila) SAMHD1 20q11.22 SAM domain and HD domain 1 RBL1 20q11.21 retinoblastoma-like 1 (p107) RPS3AP3 20q11.2 ribosomal protein S3A pseudogene 3 C20orf132 20q11.22 chromosome 20 open reading frame 132 RPN2 20q11.22-q11.23 ribophorin II GHRH 20q11.21 growth hormone releasing hormone MANBAL 20q11.23-q12 mannosidase, beta A, lysosomal-like SRC 20q11.21 v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1212 19.7 172 - 2001 11780052
    3 - 1044 13.7 118 - 2001 11780052
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Reproductivemale systemprostate  highly
    Visualeyeuvea   
     eyelacrimal gland   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    Connectivecartilage   
    Epithelialsecretoryglandular  
    Epithelialsensoryvisual  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer hexamer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION
    basic FUNCTION
  • may be regulating ATPase activity of myosin heads
  • playing an important role in regulation of both smooth muscle and nonmuscle cell contractile activity
  • required for invasion and lung colonization
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
  • interacting with PNKD
  • transcriptional target of RUNX1, providing a mechanism for decreased platelet MYL9 expression, myosin light chainphosphorylation, thrombocytopenia, and platelet dysfunction associated with RUNX1 mutations
  • cell & other
    REGULATION
    Other its phosphorylation is involved in uterine contractions (are mainly regulated by phosphorylation of MYL9 by Ca2+/calmodulin-dependent myosin light chain kinase)
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in thrombocytopenia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS