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FLASH GENE
Symbol DAAM2 contributors: npt/mct - updated : 16-12-2020
HGNC name dishevelled associated activator of morphogenesis 2
HGNC id 18143
Corresponding disease
SRN9 steroid-resistant nephrotic syndrome 9
Location 6p21.2      Physical location : 39.760.792 - 39.872.640
Synonym name
  • cDNA sequence, expressed in brain, >100kDa, related to Drosophila diaphanous protein
  • similar to Mouse p140mDia, a target protein for Rho small GTPase
  • Synonym symbol(s) KIAA0381, MGC90515, dJ90A20A.1, RP1-278E11.1
    DNA
    TYPE functioning gene
    STRUCTURE 112.50 kb     25 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 6256 - 1067 - 2017 29053101
    25 - 6185 - 1068 - 2017 29053101
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   highly
     nerve   highly
    Reproductivemale systemprostate  highly
    Skin/Tegumentskin   highly
    Urinarykidneynephronrenal capsuleglomerulus  Homo sapiens
    Visualeye   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinarypodocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • Formin-homology FH1 and FH2 domains, which showed 68.9 p 100 total-amino-acid identity with DAAM1
  • HOMOLOGY
    interspecies homolog to Drosophila diaphanous protein
    Homologene
    FAMILY
  • formin homology family, Formin-homology FDD subfamily
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    text
  • localizes to the cytoplasm in podocytes and in kidney sections
  • basic FUNCTION
  • being effectors of Wnt signaling during vertebrate development
  • role of DAAM2 in canonical Wnt signal transduction during spinal cord development
  • is required for dorsal progenitor identities and canonical Wnt signaling
  • DAAM1 and DAAM2 nucleate actin and mediate Wnt-induced cytoskeletal changes
  • DAAM2 promotes tumorigenesis by suppressing VHL expression
  • potential role for DAAM2 in supporting normal podocyte migration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • DAAM2 association with DVL3 is required for Wnt activity and dorsal patterning
  • DAAM2 associates with VHL and facilitates its ubiquitination and degradation
  • DAAM2 decreased VHL expression and consequently upregulated HIF1A, eventually facilitating invasion of hepatocellular carcinoma (HCC)
  • interacts with INF2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SRN9
    Susceptibility to idiopathic pulmonary ossification (IPO)
    Variant & Polymorphism other
  • variant of DAAM2 (c.G2960T:p.R987L) might participate in the disease process of idiopathic pulmonary ossification (IPO)
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS