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FLASH GENE
Symbol TMEM63A contributors: mct - updated : 22-11-2019
HGNC name transmembrane protein 63A
HGNC id 29118
Corresponding disease
PMLD5 Pelizaeus-Merzbacher-like disease 5
Location 1q42.12      Physical location : 226.033.233 - 226.070.420
Synonym name
  • KIAA0792 gene product
  • CSC1-like protein 1
  • Synonym symbol(s) KIAA0489, KIAA0792, RP4-559A3.1
    DNA
    TYPE functioning gene
    STRUCTURE 42.16 kb     25 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    25 - 4109 92.1 807 - 2018 30382938
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   lowly
    Cardiovascularheart   moderately
    Digestiveliver   highly
    Endocrinepancreas   highly
    Nervousbrain   highly Homo sapiens
     spinal cord   predominantly
    Reproductivefemale systemovary  highly
     male systemtestis  moderately
    Respiratorylung   highly
    Urinarykidney   predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    Muscularstriatumskeletal  
    Nervouscentral   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousoligodendrocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to Drosophila CG11210
    intraspecies homolog to TMEM63B and TMEM63C
    Homologene
    FAMILY
  • SPO75/TMEM63 family
  • OSCA/TMEM63 family of mechanically activated ion channels
  • CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • TMEM63A, TMEM63B, TMEM63C are required to constitute a hyperosmolarity activated ion channel, and may serve as an osmolarity sensitive ion channel for the osmoreception
  • role for TMEM63A in early myelin development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PMLD5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS