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FLASH GENE
Symbol PCK2 contributors: mct - updated : 09-11-2012
HGNC name phosphoenolpyruvate carboxykinase 2 (mitochondrial)
HGNC id 8725
Corresponding disease
PCK2D phosphoenolpyruvate carboxykinase deficiency, mitochondrial
Location 14q12      Physical location : 24.563.482 - 24.573.337
Synonym name
  • PEP carboxykinase
  • mitochondrial phosphoenolpyruvate carboxykinase 2
  • phosphopyruvate carboxylase
  • Synonym symbol(s) PEPCK2, PEPCK.M, PEPCK, PEPCK-M
    EC.number 4.1.1.32
    DNA
    TYPE functioning gene
    STRUCTURE 9.86 kb     10 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (CAAT box)
    cytosine-phosphate-guanine/HTF
    text structure several potential regulatory elements, including five GC boxes and three CCAAT boxes
    MAPPING cloned Y linked   status provisional
    Physical map
    DHRS4 14q11.2-14q21.3 dehydrogenase/reductase (SDR family) member 4 DHRS4L2 14 dehydrogenase/reductase (SDR family) member 4 like 2 LOC387975 14 similar to peroxisomal short-chain alcohol dehydrogenase; NADP-dependent retinol dehydrogenase; NADPH-dependent retinol dehydrogenase/reductase LOC90668 14q11.2 hypothetical protein BC008134 CPNE6 14q11.2 copine VI (neuronal) NRL 14q11.1-q11.2 neural retina leucine zipper PCK2 14q11.2-q12 phosphoenolpyruvate carboxykinase 2 (mitochondrial) WDR23 14q11.2 WD repeat domain 23 LOC161247 14q11.2 similar to 1110028A07Rik protein PSME1 14q11.2 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) C14orf122 14q11.2 chromosome 14 open reading frame 122 PSME2 14q11.2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) RNF31 14q11.2 ring finger protein 31 ISGF3G 14q11.2 interferon-stimulated transcription factor 3, gamma 48kDa REC8L1 14q11.2-q12 REC8-like 1 (yeast) IPO4 14q11.2 importin 4 TM9SF1 14q11.2 transmembrane 9 superfamily member 1 C14orf20 14q11.2 chromosome 14 open reading frame 20 C14orf123 14q11.2 chromosome 14 open reading frame 123 MGC5987 14q11.2 hypothetical protein MGC5987 NEDD8 14q11.2 neural precursor cell expressed, developmentally down-regulated 8 GMPR2 14q11.2 guanosine monophosphate reductase 2 TINF2 14q11.2 TERF1 (TRF1)-interacting nuclear factor 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    10 - 2221 - 640 - 2006 17097062
    7 - 1730 - 441 - 2006 17097062
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine  highly
     liver   highly
    Endocrinepancreas   highly
    Reproductivefemale systemuteruscervix highly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    interspecies homolog to murine Pck2
    homolog to C.elegans r11a5.4
    Homologene
    FAMILY phosphoenolpyruvate carboxykinase (GTP) family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • involved in gluconeogenesis
  • forming phosphoenolpyruvate by decarboxylation of oxaloacetate
  • catalyses the irreversible conversion of oxaloacetate to phosphoenolpyruvate, an important initial step in hepatic gluconeogenesis
  • its enzymatic activity is half that of primary hepatocytes and is localized exclusively to the mitochondria
  • strong candidate to link mtGTP synthesis with insulin release through anaplerotic phosphoenolpyruvate cycling
  • possible role for PCK2 and G6PC in the DNA damage response
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding, nucleotide,
  • manganese Mn2+
  • GTP
  • protein
  • PPARG01A, a critical transcription factor for PEPCK gene expression, is decreased upon UV-irradiation
  • cell & other
    REGULATION
    activated by ER stress triggers suppression of AMPK while increasing CEBPB and CREB1 expression which activates PCK2 gene transcription
    induced by glucagon
    repressed by insulin
    ZNF692 (represses gene expression of PCK2, a key enzyme of gluconeogenesis
    Other regulation of gene expression in the liver by KLF15
    ASSOCIATED DISORDERS
    corresponding disease(s) PCK2D
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in hypoglycemia and liver impairment
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS