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FLASH GENE
Symbol TMEM63C contributors: mct - updated : 22-11-2019
HGNC name transmembrane protein 63C
HGNC id 23787
Location 14q24.3      Physical location : 77.648.101 - 77.725.838
Synonym name
  • calcium permeable stress-gated cation channel 1 homolog
    • Synonym symbol(s) C14orf171, CSC1, hsCSC1
    DNA
    TYPE functioning gene
    STRUCTURE 77.70 kb     24 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 5363 - 806 - 2016 27045885
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     plasma membrane
    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
  • potential role in mediating the glomerular filtration barrier function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in focal segmental glomerulosclerosis specific TMEM63C loss in podocytes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS