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FLASH GENE
Symbol GFPT2 contributors: mct - updated : 24-08-2010
HGNC name glutamine-fructose-6-phosphate transaminase 2
HGNC id 4242
Location 5q35.3      Physical location : 179.727.699 - 179.780.315
Synonym name
  • glutamine, fructose-6-phosphate aminotransferase 2
  • hexosephosphate aminotransferase 2
  • glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 2
  • Synonym symbol(s) GFAT2
    EC.number 2.6.1.16
    DNA
    TYPE functioning gene
    STRUCTURE 52.62 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map cen - D5S498 - GFPT2 - D5S408 - qter
    Authors Oki (99)
    Physical map
    LOC391859 5 similar to Tb-291 membrane associated protein LOC389351 5 similar to 6-pyruvoyl-tetrahydropterin synthase RUFY1 5q35.3 RUN and FYVE domain containing 1 HNRPH1 5q353 heterogeneous nuclear ribonucleoprotein H1 (H) LOC202404 5q35.3 hypothetical LOC202404 LOC285679 5q35.3 hypothetical protein LOC285679 LOC389352 5 similar to High mobility group protein 4 (HMG-4) (High mobility group protein 2a) (HMG-2a) CANX 5q35 calnexin MAML1 5q35 mastermind-like 1 (Drosophila) FLJ12121 5q35.3 hypothetical protein FLJ12121 LTC4S 5q35 leukotriene C4 synthase MGAT4B 5q35 mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isoenzyme B SQSTM1 5q35 sequestosome 1 LOC51149 5q35.3 truncated calcium binding protein KIAA0676 5q35.1-q35.3 truncated calcium binding protein RNF130 5q35.3 ring finger protein 130 LOC255426 LOC391860 5 similar to 40S ribosomal protein S8 MAPK9 5q35 mitogen-activated protein kinase 9 GFPT2 5q34-q35 glutamine-fructose-6-phosphate transaminase 2 KIAA1194 5q35.3 Homo sapiens KIAA1194 (KIAA1194), mRNA. SCGB3A1 5q35-qter secretoglobin, family 3A, member 1 FLT4 5q35.3 fms-related tyrosine kinase 4 LOC134082 5q35.3 similar to seven transmembrane helix receptor LOC134083 5q35.3 similar to Olfactory receptor 2Y1 MGAT1 5q35 mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase FLJ21458 5q35.3 hypothetical protein FLJ21458 LOC391861 5 similar to cAMP-regulated phosphoprotein 19 (ARPP-19) BTNL3 5q35 butyrophilin-like 3 FLJ32535 5q35.3 butyrophilin 3 FOXO1B 5q35.2-q35.3 forkhead box O1B LOC340050 5q35.3 similar to hypothetical protein LOC340052 5q35.3 similar to seven transmembrane helix receptor LOC285659 5q35.3 similar to Olfactory receptor 2V3 LOC389353 5 LOC389353 TRIM7 5q35.3 tripartite motif-containing 7
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 3011 76.9 682 - Oki (1999)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Nervousspinal cord   highly
    Reproductivefemale systemovary   
    Respiratorylung    
    Skin/Tegumentskin    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Nervouscentral  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a type-2 glutamine amidotransferase domain
  • HOMOLOGY
    interspecies homolog to murine Gfpt2
    homolog to C.elegans f22b3.4
    intraspecies homolog to GFPT1
    Homologene
    FAMILY
  • SIS family
  • GFAT subfamily
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • may be involved in regulating the availability of
  • precursors for N- and O-linked glycosylation of proteins
  • rate-limiting enzyme in hexosamine biosynthesis (Zitzler 2004)
  • critical target of methylmercury and ROS-induced cytotoxicity (Zitzler 2004)
  • involved in neurite outgrowth, early neuronal cell development, neuropeptide signaling/synthesis and neuronal receptor (Tondreau 2008)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , energetic
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between GFPT2 with TGF-beta1 genes (Prasad 2010)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    aberrantly methylated promoter associated CpG islands in acute lymphocytic leukemia (Kuang 2008)
    Susceptibility to type 2 diabetes
    Variant & Polymorphism SNP I471V associated with type 2 diabetes
    Candidate gene
    Marker
    Therapy target
  • relevant target for pharmacological intervention in chronic renal insufficiency of type-2 diabetes (Prasad 2010)
  • ANIMAL & CELL MODELS