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FLASH GENE
Symbol SAMD9 contributors: mct - updated : 01-07-2015
HGNC name sterile alpha motif domain containing 9
HGNC id 1348
Corresponding disease
FTC3 familial tumoral calcinosis 3
Location 7q21.2      Physical location : 92.728.825 - 92.747.336
Synonym name
  • expressed in aggressive fibromatosis
  • chromosome 7 open reading frame 5
    • Synonym symbol(s) OEF1, OEF2, C7orf5, KIAA2004, FLJ20073, NFTC, DRIF1
    DNA
    TYPE functioning gene
    STRUCTURE 18.50 kb     3 Exon(s)
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 6853 184.2 1589 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtongue  predominantly
     pharynx   highly
     salivary gland   highly
    Reproductivefemale systemuterus  highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a SAM (sterile alpha motif) domain
    • HOMOLOGY
    intraspecies homolog to SAMD9L
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • may be involved in the regulation of extraosseous calcification, a process of considerable importance in a wide range of diseases as common as atherosclerosis and autoimmune disorders
  • playing a role regulating cell proliferation and suppressing the neoplastic phenotype
  • SAMD9/SAMD9L are myeloid tumor suppressors (Asou 2009
  • SAMD9 and SAMD9L have also recently been shown to play key roles in the innate immune responses to stimuli such as viral infection
    • CELLULAR PROCESS cell life, proliferation/growth
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HOXB8 is crucial for the activation of the PI3K/AKT pathway and expression of epithelial-mesenchymal transition-related genes, possibly through direct binding to the promoter of SAMD9 and activating its transcription
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FTC3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    down-regulated in aggressive fibromatosis, as well as in breast and colon cancers
    tumoral   deletion    
    in acute myeloid leukemia, myelodysplastic syndrome (MDS), and juvenile myelomonocytic leukemia (JMML) (Asou 2009)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS