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FLASH GENE
Symbol PPP2R3C contributors: mct - updated : 07-10-2020
HGNC name protein phosphatase 2 (formerly 2A), regulatory subunit B'', gamma
HGNC id 17485
Corresponding disease
GDRM gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
SPGF36 spermatogenic failure 36
Location 14q13.2      Physical location : 35.554.678 - 35.591.519
Synonym name
  • chromosome 14 open reading frame 10
  • protein phosphatase subunit G5PR
  • rhabdomyosarcoma antigen Mu-RMS-40.6C
  • rhabdomyosarcoma antigen MU- RMS-40.6A
  • Synonym symbol(s) G4-1, FLJ20644, C14orf10, G5PR, GDRM, SPGF36
    DNA
    TYPE functioning gene
    STRUCTURE 37.19 kb     13 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1511 53 453 - 2019 30893644
    12 - 1383 - 343 - 2019 30893644
    13 - 1571 - 343 - 2019 30893644
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis  predominantly Homo sapiens
    Visualeyeuveachoroid  
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialbarrier/liningretinal pigment epithelium (RPE)  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    two EF-hand domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • is involved in the ontogeny of multiple organs, especially critical for testis development and spermatogenesis
  • is a critical intracellular signaling molecule involved in spermatogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PPP2R3C negatively regulates ABCB1 expression and function
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) GDRM , SPGF36
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS