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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
Location 16q24.3      Physical location : 90.015.150 - 90.034.467
Synonym name differentially expressed in FDCP 8
Synonym symbol(s) FLJ20186, MGC104349, FDCP8
DNA
TYPE functioning gene
STRUCTURE 19.32 kb     13 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
13 - 3745 58.6 512 - 2022 35921708
6 - 892 22.8 197 - 2022 35921708
13 - 3620 - 451 - 2022 35921708
14 - 3860 - 451 - 2022 35921708
13 - 3590 - 441 - 2022 35921708
12 - 3486 - 391 - 2022 35921708
12 - 3524 - 434 - 2022 35921708
5 - 795 - 197 - 2022 35921708
6 - 889 - 197 - 2022 35921708
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