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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GFPT2 Gene

protein-coding   GIFtS: 66
GCID: GC05M179727

Glutamine-Fructose-6-Phosphate Transaminase 2

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Glutamine-Fructose-6-Phosphate Transaminase 21 2     GFAT 22 3
GFAT22 3 5     EC 2.6.1.163 8
Glutamine: Fructose-6-Phosphate Aminotransferase 21 2     Glucosamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 22
Glutamine:Fructose-6-Phosphate Amidotransferase 22 3     Glutamine--Fructose-6-Phosphate Aminotransferase [Isomerizing] 22
Hexosephosphate Aminotransferase 22 3     Glutamine:Fructose 6 Phosphate Amidotransferase 22
D-Fructose-6-Phosphate Amidotransferase 22 3     

External Ids:    HGNC: 42421   Entrez Gene: 99452   Ensembl: ENSG000001314597   OMIM: 6038655   UniProtKB: O948083   

Export aliases for GFPT2 gene to outside databases

Previous GC identifers: GC05M179841 GC05M180705 GC05M179837 GC05M179660 GC05M174452


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for GFPT2 Gene: 
GFPT2 (glutamine-fructose-6-phosphate transaminase 2) is a protein-coding gene. Diseases associated with GFPT2 include pneumonia, and tuberculosis, and among its related super-pathways are UDP-N-acetyl-D-glucosamine biosynthesis II and WNT ligand biogenesis and trafficking. GO annotations related to this gene include carbohydrate binding and glutamine-fructose-6-phosphate transaminase (isomerizing) activity. An important paralog of this gene is GFPT1.

UniProtKB/Swiss-Prot: GFPT2_HUMAN, O94808
Function: Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the
availability of precursors for N- and O-linked glycosylation of proteins




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_023133.13  NC_018916.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GFPT2 gene promoter:
         AhR   RREB-1   Olf-1   MyoD   IRF-1   Arnt   Evi-1   RORalpha1   CP2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGFPT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GFPT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GFPT2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q34-q35   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q

GFPT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GFPT2 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M179727:  view genomic region     (about GC identifiers)

Start:
179,727,690 bp from pter      End:
179,780,387 bp from pter
Size:
52,698 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GFPT2_HUMAN, O94808 (See protein sequence)
Recommended Name: Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 2  
Size: 682 amino acids; 76931 Da
Secondary accessions: Q53XM2 Q9BWS4

Explore the universe of human proteins at neXtProt for GFPT2: NX_O94808

Explore proteomics data for GFPT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O94808

  • 4/21 DME Specific Peptides for GFPT2 (O94808) (see all 21)
     EYRGYDS  KEIFEQP  IEHTNRV  RGYDSAG 

    GFPT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GFPT2 Protein Expression
    REFSEQ proteins: NP_005101.1  
    ENSEMBL proteins: 
     ENSP00000253778   ENSP00000431125   ENSP00000422771  
    Reactome Protein details: O94808
    Human Recombinant Protein Products for GFPT2: 
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    Cloud-Clone Corp. Proteins for GFPT2 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    GFPT2 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for GFPT2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR000583 GATase_dom
     IPR001347 SIS
     IPR005855 GlmS_trans
     IPR017932 GATase_2_dom

    Graphical View of Domain Structure for InterPro Entry O94808

    ProtoNet protein and cluster: O94808

    2 Blocks protein domains:
    IPB000583 Glutamine amidotransferase
    IPB001347 Sugar isomerase (SIS)


    UniProtKB/Swiss-Prot: GFPT2_HUMAN, O94808
    Similarity: Contains 1 glutamine amidotransferase type-2 domain
    Similarity: Contains 2 SIS domains


    GFPT2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GFPT2_HUMAN, O94808
    Function: Controls the flux of glucose into the hexosamine pathway. Most likely involved in regulating the
    availability of precursors for N- and O-linked glycosylation of proteins
    Catalytic activity: L-glutamine + D-fructose 6-phosphate = L-glutamate + D-glucosamine 6-phosphate

         Genatlas biochemistry entry for GFPT2:
    glutamine

         Enzyme Number (IUBMB): EC 2.6.1.161 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004360glutamine-fructose-6-phosphate transaminase (isomerizing) activity IEA--
    GO:0030246carbohydrate binding IEA--
         
    GFPT2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GFPT2:
     Synthetic lethal with Ras 

         1 MGI phenotypic allele for Gfpt2 (no phenotypes)

    GFPT2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for GFPT2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GFPT2 
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    SwitchGear 3'UTR luciferase reporter plasmidGFPT2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GFPT2 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1UDP-N-acetyl-D-glucosamine biosynthesis II
    UDP-N-acetyl-D-glucosamine biosynthesis II0.67
    Synthesis of UDP-N-acetyl-glucosamine0.67
    2Asparagine N-linked glycosylation
    Asparagine N-linked glycosylation0.77
    Post-translational protein modification0.44
    WNT ligand biogenesis and trafficking0.77
    Metabolism of proteins0.35
    Signaling by Wnt0.62
    3Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein0.53
    Synthesis of substrates in N-glycan biosythesis0.53
    4Signaling by GPCR
    Signal Transduction0.55
    5Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for GFPT2
        Glucose / Energy Metabolism

    1 BioSystems Pathway for GFPT2
        UDP-N-acetyl-D-glucosamine biosynthesis II

    5/9        Reactome Pathways for GFPT2 (see all 9)
        Signaling by Wnt
    Asparagine N-linked glycosylation
    Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Synthesis of substrates in N-glycan biosythesis
    Signal Transduction


    3         Kegg Pathways  (Kegg details for GFPT2):
        Alanine, aspartate and glutamate metabolism
    Amino sugar and nucleotide sugar metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: GFPT2_HUMAN, O94808
    Pathway: Nucleotide-sugar biosynthesis; UDP-N-acetyl-alpha-D-glucosamine biosynthesis; alpha-D-glucosamine
    6-phosphate from D-fructose 6-phosphate: step 1/1


    GFPT2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GFPT2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/213 Interacting proteins for GFPT2 (O948083 ENSP000002537784) via UniProtKB, MINT, STRING, and/or I2D (see all 213)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PSMD4P550363, ENSP000003578794I2D: score=4 STRING: ENSP00000357879
    RPL23P628293, ENSP000003778654I2D: score=4 STRING: ENSP00000377865
    POLR1BQ9H9Y63, ENSP000002633314I2D: score=3 STRING: ENSP00000263331
    MAT1AQ002663, ENSP000003612874I2D: score=2 STRING: ENSP00000361287
    PCP114983, ENSP000003775274I2D: score=2 STRING: ENSP00000377527
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process ----
    GO:0006002fructose 6-phosphate metabolic process TAS10198162
    GO:0006048UDP-N-acetylglucosamine biosynthetic process TAS--
    GO:0006112energy reserve metabolic process TAS10198162
    GO:0006488dolichol-linked oligosaccharide biosynthetic process TAS--

    GFPT2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GFPT2

    4 HMDB Compounds for GFPT2    About this table
    CompoundSynonyms CAS #PubMed Ids
    FamotidineAmfamox (see all 83)76824-35-6--
    Glucosamine 6-phosphate2-Amino-2-deoxy-D-glucose 6-phosphate (see all 14)3616-42-0--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--

    1 DrugBank Compound for GFPT2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17139284 15133036 17016423 15181156 11679416

    Search CenterWatch for drugs/clinical trials and news about GFPT2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GFPT2 gene: 
    NM_005110.2  

    Unigene Cluster for GFPT2:

    Glutamine-fructose-6-phosphate transaminase 2
    Hs.696497  [show with all ESTs]
    Unigene Representative Sequence: BC000012
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253778(uc003mlw.1) ENST00000520165 ENST00000510122 ENST00000518906
    ENST00000518185 ENST00000518158 ENST00000503546 ENST00000503228
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate GFPT2 (see all 36):
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    Additional mRNA sequence: 

    AB016789.1 AK001242.1 AK022507.1 AK297750.1 AK314551.1 BC000012.2 BT009818.1 

    14 DOTS entries:

    DT.442472  DT.100810198  DT.120797784  DT.95267700  DT.95326498  DT.120797803  DT.40249068  DT.100754269 
    DT.120797787  DT.120797821  DT.92429035  DT.99968255  DT.75189332  DT.91912793 

    24/125 AceView cDNA sequences (see all 125):

    BG491586 AI970687 BU181184 H02609 AI192335 BU850106 BI496521 BU859087 
    BX482163 BC000012 BU632664 BQ927130 BM423748 AW627391 BI962837 BQ933176 
    BQ214293 CA390296 NM_005110 BM911891 BQ944089 AL698023 AB016789 BQ691308 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for GFPT2 (see all 6)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b
    SP1:                    -                 -                       -                                         -                                                   
    SP2:                                                              -                                                                                             
    SP3:                                                                                                                                            -               
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for GFPT2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GFPT2 expression in normal human tissues (normalized intensities)      GFPT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAGAGAGTA
    GFPT2 Expression
    About this image


    GFPT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 5 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             Outflow Tract
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 2 entries
             Umbilical cord blood-derived mesenchymal stem cells
             Human Umbilical Mesenchymal Stem Cells (HUMSC)   
     
     Mesenchymal Stem Cells
             Umbilical cord blood-derived mesenchymal stem cells
             Human Umbilical Mesenchymal Stem Cells (HUMSC)   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Sox17-GFP genetically modified stem cells
     
     Bone (Muscoskeletal System)
             Membranous Facial Bones

    See GFPT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GFPT2

    SOURCE GeneReport for Unigene cluster: Hs.696497

    UniProtKB/Swiss-Prot: GFPT2_HUMAN, O94808
    Tissue specificity: Highest levels of expression in heart, placenta, and spinal cord

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GFPT2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GFPT2 gene from 9/24 species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gfpt21 , 5 glutamine fructose-6-phosphate transaminase 21, 5 89.39(n)1
    97.8(a)1
      11 (29.90 cM)5
    145841  NM_013529.31  NP_038557.11 
     497941785 
    chicken
    (Gallus gallus)
    Aves GFPT21 glutamine-fructose-6-phosphate transaminase 2 79.03(n)
    92.67(a)
      426962  XM_003642066.1  XP_003642114.1 
    lizard
    (Anolis carolinensis)
    Reptilia GFPT26
    glutamine-fructose-6-phosphate transaminase 2
    85(a)
    1 ↔ 1
    2(141186107-141211061)
    zebrafish
    (Danio rerio)
    Actinopterygii gfpt21 glutamine-fructose-6-phosphate transaminase 2 73.73(n)
    78.53(a)
      569945  NM_001033921.1  NP_001029093.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Gfat21 , 3 glucosamine-fructose-6-phosphate
    aminotransferase more3
    Glutamine:fructose-6-phosphate aminotransferase 21
    66(a)
    (best of 2)3
    65.44(n)1
    66.72(a)1
      98C43
    433731  NM_143360.31  NP_651617.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F07A11.2b3
    F07A11.21
    glucosamine-fructose-6-phosphate
    aminotransferase3
    Protein F07A11.21
    58(a)
    (best of 3)3
    60.42(n)1
    61.5(a)1
      II(11592452-11595282)3
    1747781  NM_064078.41  NP_496479.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GFA1(YKL104C)4
    GFA11
    Glutamine-fructose-6-phosphate amidotransferase, catalyzes more4
    Gfa1p1
    55.44(n)1
    59.23(a)1
      11(245373-243220)4
    8537571, 4  NP_012818.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G240901 putative glucosamine-fructose-6-phosphate aminotransferase 54.17(n)
    53.96(a)
      821995  NM_113314.3  NP_189051.3 
    rice
    (Oryza sativa)
    Liliopsida Os12g01311001 hypothetical protein 58.91(n)
    59.43(a)
      4351413  NM_001072606.1  NP_001066074.1 


    ENSEMBL Gene Tree for GFPT2 (if available)
    TreeFam Gene Tree for GFPT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GFPT2 gene
    GFPT12  
    1 SIMAP similar gene for GFPT2 using alignment to 3 protein entries:     GFPT2_HUMAN (see all proteins):
    GFPT1

    GFPT2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1476 SNPs in GFPT2 are shown (see all 1476)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs744466121,2
    C--179727259(+) CACCCG/ATTGTC 1 -- ds50014Minor allele frequency- A:0.05NA WA EA 360
    rs117396241,2
    C,F,A,H--179727290(+) GTGTGC/TGACAG 1 -- ds500110Minor allele frequency- T:0.28NA WA CSA EA 371
    rs117389241,2
    C,F,A,H--179727308(+) GTAGGG/AAGCCT 1 -- ds500110Minor allele frequency- A:0.31NA WA CSA EA 371
    rs1468634611,2
    --179727321(+) GTTCTC/GACTTC 1 -- ds50010--------
    rs117486191,2
    C,F,A,H--179727399(+) AATAGG/CCTTAT 1 -- ds500110Minor allele frequency- C:0.30NA WA CSA EA 371
    rs1906933251,2
    --179727470(+) ACCCCG/TTCCAG 1 -- ds50010--------
    rs612257681,2
    C,F--179727521(+) TGTTGT/CATCCT 1 -- ds50016Minor allele frequency- C:0.19NA WA CSA EA 245
    rs1406877741,2
    --179727549(+) TTCCTA/GCTAGA 1 -- ds50010--------
    rs117486981,2
    C,F,H--179727677(+) GTTAAC/TAAAAT 1 -- ds500115Minor allele frequency- T:0.20NS EA WA NA 2332
    rs590280421,2
    C,F--179727681(+) ACAAAA/GTGCAA 1 -- ds50015Minor allele frequency- G:0.19WA CSA EA 243

    HapMap Linkage Disequilibrium report for GFPT2 (179727690 - 179780387 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for GFPT2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731327CNV Deletion23290073
    esv2731331CNV Deletion23290073
    dgv1020e201CNV Deletion23290073
    nsv883290CNV Loss21882294
    nsv830563CNV Loss17160897
    nsv883291CNV Loss21882294
    nsv10787CNV Gain18304495
    dgv1881e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): GFPT2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GFPT2
    DNA2.0 Custom Variant and Variant Library Synthesis for GFPT2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603865    OMIM disorders: --

    2 diseases for GFPT2:    About MalaCards
    pneumonia    tuberculosis


    GFPT2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GFPT2
    Human Genome Epidemiology (HuGE) Navigator: GFPT2 (2 documents)

    Export disorders for GFPT2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GFPT2 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with GFPT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and mapping of a novel subtype of glutamine:fructose-6- phosphate amidotransferase (GFAT2) in human and mouse. (PubMed id 10198162)1, 2, 3, 9 Oki T.... Tanaka I. (1999)
    2. Association analysis of ADPRT1, AKR1B1, RAGE, GFPT2 a nd PAI-1 gene polymorphisms with chronic renal insufficiency among Asian Indian s with type-2 diabetes. (PubMed id 20353610)1, 4, 9 Prasad P....Thelma B.K. (2010)
    3. Common variants in glutamine:fructose-6-phosphate amidotransferase 2 (GFPT2) gene are associated with type 2 diabetes, diabetic nephropathy, and increased GFPT2 mRNA levels. (PubMed id 14764791)1, 4, 9 Zhang H....Elbein S.C. (2004)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Why do cellular proteins linked to K63-polyubiquitin c hains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (2013)
    6. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    7. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV- infected men. (PubMed id 21897333)1 Irvin M.R....Arnett D.K. (2011)
    10. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9945 HGNC: 4242 AceView: GFPT2 Ensembl:ENSG00000131459 euGenes: HUgn9945
    ECgene: GFPT2 Kegg: 9945 H-InvDB: GFPT2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GFPT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GFPT2 gene:
    Search GeneIP for patents involving GFPT2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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