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FLASH GENE
Symbol DEPDC5 contributors: mct - updated : 06-07-2014
HGNC name DEP domain containing 5
HGNC id 18423
Corresponding disease
FPEVF2 familial partial epilepsy with variable foci 2
Location 22q12.3      Physical location : 32.150.068 - 32.303.000
Synonym symbol(s) DEP.5, KIAA0645
DNA
TYPE functioning gene
STRUCTURE 153.08 kb     43 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
42 - 5458 177.7 1572 - 2011 21725309
isoform 1
22 - 2460 63.6 559 - 2011 21725309
  • lacking several 3' exons
  • having an alternate 3' exon
  • isoform 2
  • 40 - 5155 - 1503 - 2011 21725309
    43 - 5551 - 1603 - 2011 21725309
    42 - 5382 - 1594 - 2011 21725309
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     thymus   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a DEP domain
    HOMOLOGY
    interspecies homolog to murine Depdc5 (94.3pc)
    Homologene
    FAMILY
    CATEGORY signaling
    SUBCELLULAR LOCALIZATION
    basic FUNCTION unknown
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • DEPDC5, NPRL2 and NPRL3 are components of Gap Activity TOward Rags 1 (GATOR1), a complex involved in the inhibition of the mTOR complex 1 (MTOR)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FPEVF2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   deletion    
    with YWHAH, C22ORF24, in glioblastomas
    Susceptibility to hepatocellular carcinoma in chronic hepatitis C virus carriers
    Variant & Polymorphism SNP
  • intronic SNP in the DEPDC5 locus on chromosome 22 associated with hepatocellular carcinoma in chronic hepatitis C virus carriers
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS