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FLASH GENE
Symbol ANO5 contributors: mct - updated : 10-01-2013
HGNC name anoctamin 5
HGNC id 27337
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eight-transmembrane domains
  • the N- and C-termini located in the cytosol
  • five putative N-glycosylation sites
  • a potential endoplasmic reticulum (ER) retention signal (at the C-terminus (AKST)
  • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Tmem16e
    Homologene
    FAMILY
  • anoctamin family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytosolic,vesicle
    text integral membrane glycoprotein that resides predominantly in intracellular vesicles, in vesicular membranes
    basic FUNCTION
  • playing a role in the regulation of intracellular calcium homeostasis (Ca2+-activated Cl- channels)
  • may play a role in the stimulation of both myogenic precursor cell proliferation and muscle
  • may play an important role in the dysferlin-dependent muscle membrane repair pathway hypertrophy/regeneration processes
  • putative calcium-activated chloride channel function that may lead to important insights into the role of deficient skeletal muscle membrane repair in muscular dystrophies
  • involved in a variety of functions that include ion transport, phospholipid scrambling, and regulation of other membrane proteins
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GDD , LGMD2L , MMD3
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS