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FLASH GENE
Symbol PIEZO2 contributors: npt/shn - updated : 07-12-2016
HGNC name piezo-type mechanosensitive ion channel component 2
HGNC id 26270
Corresponding disease
AMCD3 arthrogryposis, multiplex congenita, distal type 3
AMCD5 arthrogryposis, multiplex congenita, distal, type 5
DAIPT arthrogryposis, distal, with impaired proprioception and touch
MDWS Marden -Walker syndrome
Location 18p11.22      Physical location : -
Synonym name
  • family with sequence similarity 38, member B
  • hypothetical protein LOC63895
  • family with sequence similarity 38, member B2
  • chromosome 18 open reading frame 30
  • chromosome 18 open reading frame 58
  • protein PIEZO2
  • Synonym symbol(s) FAM38B, FLJ23403, FLJ23144, FAM38B2, C18orf30, C18orf58, HsT748, HsT771, FLJ34907 DA3, DA5, DAIPT
    DNA
    TYPE functioning gene
    STRUCTURE 478.52 kb     52 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map pter - D18S1153 - D18S1150 - PIEZO2 - D18S53 - D18S1116 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    52 - 9733 - 2752 - 2015 26551544
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   moderately Mus musculusAdultNM_001039485
    Digestiveintestinelarge intestinecolon lowly Mus musculusAdultNM_001039485
     intestinesmall intestine  lowly Mus musculusAdultNM_001039485
     stomach   lowly Mus musculusAdultNM_001039485
    Nervousbrainhindbraincerebellum lowly Mus musculusAdultNM_001039485
     brain   lowly Mus musculusAdultNM_001039485
     gangliasensory gangliadorsal root highly Mus musculusAdultNM_001039485
    Respiratorylung   highly Mus musculusAdultNM_001039485
    Skin/Tegument    lowly Mus musculusAdultNM_001039485
    Urinarybladder   moderately Mus musculusAdultNM_001039485
     kidney   lowly Mus musculusAdultNM_001039485
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal lowly Mus musculusAdultNM_001039485
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies ortholog to Piezo2, Mus musculus
    ortholog to Piezo2, Rattus norvegicus
    ortholog to PIEZO2, Pan troglodytes
    Homologene
    FAMILY
  • FAM38 family
  • CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • has potential roles in touch and pain sensation
  • potential components of mechanically activated cation channels
  • potential role in somatosensory mechanotransduction
  • is the Merkel-cell mechanotransduction channel and have a physiological role in mechanosensation in mammals
  • PIEZO1 and PIEZO2 encode mechanically activated cation channels that function as mechanotransducers involved in vascular system development and touch sensing, respectively
  • is the major mechanotransducer of mammalian proprioceptors
  • is a critical regulator of tumor angiogenesis and vascular permeability
  • important mechano-gated ion channel that is involved in light touch sensitivity and inflammatory allodynia
  • potential role of PIEZO2 in the mediation of visceral sensation
  • is a determinant of mechanosensation
  • encodes a mechanosensitive ion channel that plays a major role in light-touch mechanosensation and has recently been identified as the principal mechanotransduction channel for proprioception
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PIEZO2-mediated mechanotransduction is regulated by static plasma membrane tension (SPMT) in primary afferent neurons
  • cell & other
    REGULATION
    Other activity of the PIEZO2-dependent channel is controlled by the intracellular Ca2+ concentration and can be recorded following disruption of the sensory transduction machinery or more generally by disruption of the sensory epithelium
    ASSOCIATED DISORDERS
    corresponding disease(s) AMCD3 , AMCD5 , MDWS , DAIPT
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in tumor endothelial cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • knockdown of Piezo2 in dorsal root ganglia neurons specifically reduced rapidly adapting mechanically activated currents