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FLASH GENE
Symbol DEF8 contributors: npt/mct - updated : 13-03-2023
HGNC name differentially expressed in FDCP 8 homolog (mouse)
HGNC id 25969
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunetonsils   highly
Nervousbrain   highly
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • DEF8 family
    • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • PLEKHM1, DEF8, FAM98A, and NDEL1 constitute a molecular complex that regulates lysosome positioning and secretion through RAB7
  • act at the final step of the autophagy/endolysosomal pathway, having a potential role in the pathophysiology of Alzheimer disease
  • involvement of DEF8 in the formation of Lewy bodies, in Parkinson's disease (PD) and dementia with Lewy bodies (DLB)] and multiple system atrophy (MSA)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to cutaneous squamous cell carcinoma (SCC)
    Variant & Polymorphism SNP
  • Rs8063761 in the DEF8 gene on chromosome 16 showed the strongest association with SCC
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS