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FLASH GENE
Symbol ANO6 contributors: mct/npt - updated : 28-03-2017
HGNC name anoctamin 6
HGNC id 25240
Corresponding disease
SCOTS Scott syndrome
Location 12q12      Physical location : 45.609.769 - 45.834.187
Synonym name
  • transmembrane protein 16F
  • SCAN channel
  • small-conductance calcium-activated nonselective cation channel
  • Synonym symbol(s) MGC104751, TMEM16F, DKFZp313M0720, BDPLT7, SCTS
    DNA
    TYPE functioning gene
    STRUCTURE 224.42 kb     20 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    20 splicing 6133 106 910 - 2015 26108457
    20 splicing 3591 - 929 - 2015 26108457
    20 splicing 5980 - 892 - 2015 26108457
    21 splicing 6196 - 931 - 2015 26108457
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Hearing/Equilibriumear   highly
    Lymphoid/Immunethymus   highly
    Skin/Tegumentskin   highly
    Urinarykidney     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinaryepithelial cell Homo sapiens
    cell lineage
    cell lines prominently expressed anoctamin in Jurkat cells
    fluid/secretion
    at STAGE
    physiological period embryo, fetal
    Text embryonic stem cells, fetal liver, retina
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • eight transmembrane domains
  • N- and C-terminal tails facing the cytoplasm
  • HOMOLOGY
    intraspecies paralog to NELL2
    homolog to ANO5
    Homologene
    FAMILY
  • anoctamin family
  • CATEGORY transport channel
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule
    text
  • localized on the plasma membrane and conferred Ca2+-dependent scrambling of phospholipids
  • localized in the primary cilium of renal epithelial cells
  • is located in late endosomes, where it facilitates the generation of multivesicular bodies for TCR degradation and signal termination
  • basic FUNCTION
  • essential component for the Ca2+-dependent exposure of PtdSer (hosphatidylserine) on the cell surface
  • mediates a Ca2+-dependent scramblase activity for PtdSer
  • forms the essential component of ORCC (Outwardly rectifying chloride channels)and seems to have a role for cell shrinkage and programmed cell death
  • is essential for the Ca2+-dependent scramblase activity
  • role in the procoagulant state of platelets during thrombus formation
  • its expression yielded a Ca2+-activated nonselective cation (CAN) channel that is more permeable to Ca2+ than monovalent cations
  • is important, but not sufficient, for the Ca2+-dependent scramblase activity
  • ANO6 is an essential component of a Ca(2+)-activated Cl(-) channel with a Ca(2+) sensitivity that is distinct from that of ANO1/ANO2 and that it is not related to volume-sensitive outwardly rectifying Cl(-) channel (VSOR) activity
  • constitutes a Ca(2+)-activated anion channel or a pore-forming subunit of an anion channel with properties distinct from TMEM16A
  • ANO1 and ANO6 use a similar mechanism for sorting to plasma membrane and protein stabilization, but their functional domains significantly differ
  • plays an essential role in C2C12 myoblast proliferation, likely via regulating the ERK/AKT signaling pathway
  • involved in a variety of functions that include ion transport, phospholipid scrambling, and regulation of other membrane proteins
  • ANO6 proteins are directly involved in dual activity, as a phospholipid scramblase and as an ion channel
  • central role for ANO6 in mediating platelet phosphatidylserine externalization in response to activating and death signals
  • supports volume regulation and volume activation of anion currents by action as a Cl(-) channel or by scrambling membrane phospholipids
  • is a cilium-associated protein, suggesting its functional relevance in cyst formation
  • is an essential component of the microglial response to injury, suggesting the importance of microglial phagocytosis in the pathogenesis of neuropathic pain
  • is the dominant lipid scramblase in T lymphocytes that transports phospholipids across membranes
  • essential for Ca2+-dependent scrambling of membrane phospholipids in platelets, red blood cells, and lymphocytes
  • ANO1 is responsible for basolateral Ca2+-dependent Cl- secretion in RPE, whereas ANO6 and ANO10 may have different functions, such as modulating Ca2+ signals
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca(2+) binds ANO6 directly and induces conformational changes that support its stability and function
  • protein
  • CFTR activates ORCC produced by ANO6
  • SLC8A1 requires ANO6 to efficiently translocate Ca(2+) out of osteoblasts into the calcifying bone matrix
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SCOTS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    bloodcoagulation 
    might serve as a new pharmaceutical target to treat human hemostatic disorders, such as stroke and heart attack
    cardiovascularatheroma 
    might serve as a new pharmaceutical target to treat human hemostatic and thrombotic disorders, such as stroke and heart attack
    ANIMAL & CELL MODELS
  • deletion of Ano6 leads to reduced skeleton size, skeletal deformities, and mineralization defects in mice (pMID: 25589784)