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

GFPT2 Gene

protein-coding   GIFtS: 65
GCID: GC05M179727

glutamine-fructose-6-phosphate transaminase 2
 Explore 5 diseases affiliated with
GFPT2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GFPT2    

Aliases
for GFPT2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Glutamine-Fructose-6-Phosphate Transaminase 21 2     EC 2.6.1.163 8
GFAT21 2 3 5     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 Aminotransferase 22
D-Fructose-6-Phosphate Amidotransferase 22 3     Glutamine:Fructose 6 Phosphate Amidotransferase 22
GFAT 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


Summaries
for GFPT2 gene

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




Genomic Views
for GFPT2 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_023133.13  
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 plasmid: GFPT2 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

Proteins
for GFPT2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005101.1  
    ENSEMBL proteins: 
     ENSP00000253778   ENSP00000431125   ENSP00000422771  
    Reactome Protein details: O94808
    Human Recombinant Protein Products: 
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    Uscn 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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    Protein Domains /
    Families
    for GFPT2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GFPT2 for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    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


    Function
    for GFPT2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GFPT2
    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate GFPT2 (see all 36):
    hsa-miR-3664-5p hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-128 hsa-miR-25 hsa-miR-30d hsa-miR-124 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: GFPT2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GFPT2 (see all 7)
    OriGene shRNA RFP: GFPT2
    OriGene siRNA: GFPT2
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
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    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


    1 GenomeRNAi human phenotype for GFPT2:
     Synthetic lethal with Ras 

    Animal Models:
         1 MGI phenotypic allele for Gfpt2 (no phenotypes)

    GFPT2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GFPT2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Asparagine N-linked glycosylation
    		Asparagine N-linked glycosylation1.00
    		Metabolism of proteins0.15
    		Post-translational protein modification0.44
    2Biosynthesis 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 protein1.00
    		Synthesis of substrates in N-glycan biosythesis0.53
    3UDP-N-acetyl-D-glucosamine biosynthesis II
    		UDP-N-acetyl-D-glucosamine biosynthesis II1.00
    		Synthesis of UDP-N-acetyl-glucosamine0.67
    4Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00
    5Amino sugar and nucleotide sugar metabolism
    		Amino sugar and nucleotide sugar metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/6        Reactome Pathways for GFPT2 (see all 6)
        Synthesis of substrates in N-glycan biosythesis
    Asparagine N-linked glycosylation
    Metabolism of proteins
    Post-translational protein modification
    Synthesis of UDP-N-acetyl-glucosamine


    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): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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--
    GO:0006541glutamine metabolic process IEA--


    GFPT2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for GFPT2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for GFPT2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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

    miRNA
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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate GFPT2 (see all 36):
    hsa-miR-3664-5p hsa-miR-513a-5p hsa-miR-199a-3p hsa-miR-128 hsa-miR-25 hsa-miR-30d hsa-miR-124 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmid: GFPT2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    BU859087 BG491586 AB016789 AI192335 AK001242 C02152 CF619244 BQ691308 
    H02609 CA390296 BU181184 BM423748 BQ927130 BU850106 BC000012 AA037803 
    NM_005110 BI962837 BQ447935 BQ944089 BM911891 AU124329 BU552888 BM554334 

    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

    Expression
    for GFPT2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAAGAGAGTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GFPT2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    HeartMyocardiumCardiac FibroblastsEpicardium
    AdiposeThoracic Perivascular AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    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
    Assay Products:     
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    Orthologs
    for GFPT2 gene

    (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 last universal common ancestor (LUCA).

    Orthologs for GFPT2 gene from 10/40 species (see all 40)    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
    		 --
    		 88(a)
    		 1 ↔ 1
    		 2(141187433-141211061)
    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 
    E. coli
    (Escherichia coli)    		 Gamma proteobacteria glmS6
    frlB6
    		 fructoselysine-6-P-deglycase
    		 41(a)
    18(a)
    		 possible ortholog
    possible ortholog
    		 Chromosome(3909862-3911691)
    Chromosome(3499290-3500312)


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

    Paralogs
    for GFPT2 gene

    (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



    Genomic Variants
    for GFPT2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1195 NCBI SNPs in GFPT2 are shown (see all 1195)     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 (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for GFPT2
         2 CNVs: 31259 3591
    Human Gene Mutation Database (HGMD): GFPT2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GFPT2
    DNA2.0 Custom Variant and Variant Library Synthesis for GFPT2

    Disorders / Diseases
    for GFPT2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GFPT2 for disorders           About GeneDecksing

    OMIM gene information: 603865    OMIM disorders: --

    5 diseases for GFPT2:    About MalaCards
    nephropathy    pneumonia    tuberculosis    malaria
    mycobacterium tuberculosis

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

    Export disorders for GFPT2 gene to outside databases

    Publications
    for GFPT2 gene

    (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 22):
    (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. 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)
    3. 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)
    4. 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, 9 Prasad P....Thelma B.K. (2010)
    5. 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)
    6. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. 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)
    9. Genome-wide YFP fluorescence complementation screen id entifies new regulators for telomere signaling in human cells. (PubMed id 21044950)1 Lee O.H....Songyang Z. (2011)
    10. Hundreds of variants clustered in genomic loci and bi ological pathways affect human height. (PubMed id 20881960)1 Lango Allen H....Hirschhorn J.N. (2010)

    External Searches for GFPT2 gene

    (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)

    Genome Databases showing GFPT2 gene

    (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

    Other Databases showing GFPT2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GFPT2 gene

    (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

    Intellectual Property
    for GFPT2 gene

    (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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