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FLASH GENE
Symbol DIPK2A contributors: mct - updated : 20-10-2020
HGNC name divergent protein kinase domain 2A
HGNC id 28490
Location 3q24      Physical location : -
Synonym name
  • deleted in autism 1
  • chromosome 3 open reading frame 58
  • Golgi Protein of 49 kDa
  • Golgi protein GoPro49
  • hypoxia and Akt induced stem cell factor
  • Synonym symbol(s) MGC33365, DIA1, C3orf58, GoPro49, HASF
    DNA
    TYPE functioning gene
    STRUCTURE 20.57 kb     3 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 4370 - 430 - 2008 18651652
    3 - 3416 - 221 - 2008 18651652
    3 - 3265 - 192 - 2008 18651652
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouthtooth    Homo sapiens
    Skeletonappendicular skeletonlower limbs    Homo sapiens
     axial skeletonthoracic cageribs   Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivecartilage    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Digestiveodontoblast Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • expressed specifically in mesenchymal and cartilaginous tissues during development
  • expressed in dental follicles from bud to post-eruption stages
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • potential Golgi-retention motif
  • a number of conserved motifs with unknown function
  • HOMOLOGY
    intraspecies homolog to DIPK2B
    Homologene
    FAMILY DIA1-family proteins
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • present in the endoplasmic reticulum and to influence trafficking via the secretory pathway
  • basic FUNCTION
  • Golgi membrane protein that is expressed in a developmentally regulated manner during mesenchymal and cartilage development in mammals
  • specific marker for the dental follicle (
  • critical role in protein structure and/or function (
  • DIPK2A and DIPK2B gene products regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-like symptoms and/or mental retardation
  • induces cardiomyocyte proliferation via a phosphoinositide 3-kinase-protein kinase B-cycle-dependent kinase 7 pathway
  • protects the heart from ischemia-induced damage and promotes cardiomyocyte proliferation
  • DIPK2A, a late endosome- and lysosome-localized protein, binds to VAMP7B, which inhibits the interaction of VAMP7B with STX17 and enhances the binding of STX17 to VAMP7A, thus enhancing autophagosome-lysosome fusion
  • DIPK2A participates in autophagic degradation of mitochondria proteins and alleviates apoptosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • IGF1R is the functional receptor for DIPK2A
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to autism spectrum disorder
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS