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FLASH GENE
Symbol ADD2 contributors: mct - updated : 27-11-2013
HGNC name adducin 2 (beta)
HGNC id 244
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a N terminal globular protease-resistent domain
  • a potential protein kinase C phosphorylation site
  • a calmodulin binding site
  • a C terminus homolog to MARCKS proteins
    • mono polymer heteromer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY regulatory , structural protein
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton
    text
  • mRNA encoding beta-adducin is also located in dendrites
    • basic FUNCTION
  • adducin beta, actin accessory protein, calmodulin binding protein, promoting association of spectrin with actin and caping the fast growing end of actin filaments
  • very high levels of expression in erythropoiesis suggest that its promoter may be useful for directing erythroid-specific gene expression
  • is required for stable assembly of new synapses and improved memory upon environmental enrichment
  • ACTB and ADD2 are membrane cytoskeletal proteins, involved in synaptic function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • constituent of the erythrocyte membrane skeleton
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • with the SH2 domain of FYN (translocation under plasma membrane)
  • VPS13A interacts with beta-adducin (ADD2) and beta-actin (ACTB)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    result in damage to renal artery myogenic tone and this is associated with renal damage as manifest by proteinuria
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • beta-adducin (Add2) KO mice show synaptic plasticity, motor coordination and behavioral deficits accompanied by changes in the expression and phosphorylation levels of the alpha- and gamma-adducin subunits