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FLASH GENE
Symbol AK2 contributors: mct - updated : 18-03-2009
HGNC name adenylate kinase 2
HGNC id 362
Corresponding disease
RTDG reticular dysgenesis
Location 1p35.1      Physical location : 33.473.585 - 33.502.492
Synonym name
  • ATP-AMP transphosphorylase
  • adenylate kinase isoenzyme 2, mitochondrial
    • Synonym symbol(s) ADK2
    EC.number 2.7.4.3
    DNA
    TYPE functioning gene
    STRUCTURE 28.90 kb     7 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 961 26.5 239 - 2009 19043417
    7 - 3606 25.5 232 major form 2009 19043417
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestiveliver   highly Homo sapiens
    Hearing/Equilibriumearinner    Homo sapiens
    Lymphoid/Immunespleen     Homo sapiens
    Urinarykidney     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticplatelet Homo sapiens
    Lymphoid/Immunelymphocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
  • adenylate kinase family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,interspace
    basic FUNCTION
  • adenylate kinase 2 implicated in adenine and guanine nucleotide pool homeostasis
  • regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides
  • mitochondrial energy metabolism enzyme, that catalyzes the reversible transfer of a phosphoryl group from ATP to AMP
  • may be playing a role in providing the energy required for the proliferation of hematopoietic precursors and/or in controlling cell apoptosis
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    nucleotide
    a component
  • AK2/FADD/caspase-10 (AFAC10) complex, mediating an amplification loop that ensures the execution of the intrinsic apoptosis
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • acting in concert with FADD and caspase-10, AK2 mediates a novel intrinsic apoptotic pathway that may be involved in tumorigenesis
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RTDG
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS