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FLASH GENE
Symbol TBC1D8B contributors: mct - updated : 20-03-2019
HGNC name TBC1 domain family member 8B
HGNC id 24715
Corresponding disease
SRN7 steroid-resistant nephrotic syndrome 7
Location Xq22.3      Physical location : 106.045.918 - 106.119.375
Synonym symbol(s) GRAMD8B, FLJ20298
DNA
TYPE functioning gene
STRUCTURE 73.46 kb
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
21 - 5726 - 1120 - 2019 30661770
12 - 2607 - 632 - 2019 30661770
  • alternative splicing events in intron 11 and with a shorter 632-AA protein, lacking the C-terminal extremity of the Rab-GAP domain and the entire EF-like domain
    		•
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Urinarykidneynephronrenal capsuleglomerulus  Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Urinarypodocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C-terminal EF-hand domain
    • HOMOLOGY
    Homologene
    FAMILY TBC domain protein family (Tre-2/Bub2/CDC16)
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • Rab-GTPase-activating protein likely involved in endocytic and recycling pathways 0)
  • crucial role of TBC1D8B in the cellular recycling processes, probably as a RAB11B GTPase-activating protein 0)
  • TBC1D8B is a specific RAB11B-GTPase activating protein 0)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between TBC1D8B and RAB11B, a key protein in vesicular recycling in cells
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SRN7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS