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FLASH GENE
Symbol TMEM63C contributors: mct - updated : 22-11-2019
HGNC name transmembrane protein 63C
HGNC id 23787
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