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FLASH GENE
Symbol GLUD2 contributors: mct - updated : 07-07-2010
HGNC name glutamate dehydrogenase 2
HGNC id 4336
Location Xq24      Physical location : 120.181.461 - 120.183.794
Synonym name
  • glutamate dehydrogenase pseudogene 1
  • glutamate dehydrogenase 2, mitochondrial
  • Synonym symbol(s) GLUDP1, GDH2, GDH
    EC.number 1.4.1.3
    DNA
    TYPE functioning gene
    STRUCTURE 2.33 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 2348 61 558 - 2010 20194501
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   predominantly Homo sapiens
     brainhindbraincerebellum   Homo sapiensAdult
    Reproductivemale systemtestis  highly Homo sapiens
    Urinarykidneytubuleconvoluted tubule   Homo sapiensAdult
    Visualeyeretina  highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelial     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    NervousPurkinje cell Homo sapiensAdult
    Urinaryepithelial cell Homo sapiensAdult
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • Glu/Leu/Phe/Val dehydrogenases family
  • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    text localizes mainly to mitochondria and to a lesser extent to the endoplasmic reticulum of these cells
    basic FUNCTION
  • involved in the detoxification of transmitter glutamate
  • enzyme central to the metabolism of glutamate that also plays a role in cellular energetics
  • having importance for nerve tissue biology
  • in the kidney, could contribute to enhanced excretion of ammonia under acidosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid
    signaling
    a component CBLN1-GLUD2 complex is a unique synapse organizer that acts bidirectionally on both pre- and postsynaptic components
    INTERACTION
    DNA
    RNA
    small molecule
    protein CBLN1 binds directly to the N-terminal domain of GLUD2 (GLUD2 expression by postsynaptic cells, combined with exogenously applied CBLN1, was necessary and sufficient to induce new synapsesd in the adult cerebellum)
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to parkinson disease with earlier onset
    Variant & Polymorphism other a gain-of-function rare polymorphism modifies Parkinson disease onset
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS