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

PFKFB3 Gene

protein-coding   GIFtS: 62
GCID: GC10P006186

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3

 Explore 22 diseases affiliated with
PFKFB3 via our new
 Human Malady Compendium 
Biological research products
for PFKFB3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 31 2     6-Phosphofructo-2-Kinase/ Fructose-2,6-Bisphosphatase2
Renal Carcinoma Antigen NY-REN-562 3     6-Phosphofructo-2-Kinase/Fructose-2, 6-Bisphosphatase2
6PF-2-K/Fru-2,6-P2ase 32 3     6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 32
6PF-2-K/Fru-2,6-P2ase Brain/Placenta-Type Isozyme2 3     PFK22
IPFK-21     Fructose-6-Phosphate,2-Kinase/Fructose-2, 6-Bisphosphatase2
PFK/FBPase 32 3     Inducible 6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase2
IPFK22 5     

External Ids:    HGNC: 88741   Entrez Gene: 52092   Ensembl: ENSG000001705257   OMIM: 6053195   UniProtKB: Q168753   

Export aliases for PFKFB3 gene to outside databases

Previous GC identifers: GC10P006189 GC10P006395 GC10P006248 GC10P006226 GC10P006284


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

UniProtKB/Swiss-Prot: F263_HUMAN, Q16875
Function: Synthesis and degradation of fructose 2,6-bisphosphate

Gene Wiki entry for PFKFB3


(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_000010.10  NC_018921.1  NT_008705.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PFKFB3 gene promoter:
         USF1   USF-1:USF-2   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   Arnt   c-Ets-1   CREB   deltaCREB   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PFKFB3 promoter sequence
   Search SABiosciences Chromatin IP Primers for PFKFB3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PFKFB3


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

Entrez Gene cytogenetic band: 10p15.1   Ensembl cytogenetic band:  10p15.1   HGNC cytogenetic band: 10p15.1

PFKFB3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PFKFB3 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P006186:  view genomic region     (about GC identifiers)

Start:
6,186,843 bp from pter      End:
6,277,508 bp from pter
Size:
90,666 bases      Orientation:
plus strand

(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: F263_HUMAN, Q16875 (See protein sequence)
Recommended Name: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3  
Size: 520 amino acids; 59609 Da
6/7 PDB 3D structures from and Proteopedia for PFKFB3 (see all 7):
2AXN (3D)        2DWO (3D)        2DWP (3D)        2I1V (3D)        3QPU (3D)        3QPV (3D)    
Secondary accessions: O43622 O75902 Q5VX19
Alternative splicing: 2 isoforms:  Q16875-1   Q16875-2   

Explore the universe of human proteins at neXtProt for PFKFB3: NX_Q16875

Post-translational modifications:

  • Phosphorylation by AMPK stimulates activity1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q16875

  • PFKFB3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001138915.1  NP_004557.1  

    ENSEMBL proteins: 
     ENSP00000369115   ENSP00000436885   ENSP00000434628   ENSP00000432356   ENSP00000369111  
     ENSP00000433771   ENSP00000369105   ENSP00000353712   ENSP00000369100   ENSP00000351288  
     ENSP00000390285   ENSP00000434342   ENSP00000416677   ENSP00000404995   ENSP00000443319  
     ENSP00000446384   ENSP00000369108  
    Reactome Protein details: Q16875
    Human Recombinant Protein Products: 
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    Uscn Proteins for PFKFB3

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

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


    PFKFB3 for ontologies           About GeneDecksing



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

    PFKFB3 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR016260 Bifunct_6PFK/fruc_bisP_Ptase
     IPR001345 PG/BPGM_mutase_AS
     IPR003094 6Pfruct_kin
     IPR013079 6Phosfructo_kin
     IPR013078 His_Pase_superF_clade-1

    Graphical View of Domain Structure for InterPro Entry Q16875

    ProtoNet protein and cluster: Q16875

    2 Blocks protein families:
    IPB001345 Phosphoglycerate/bisphosphoglycerate mutase
    IPB013079 6-phosphofructo-2-kinase


    UniProtKB/Swiss-Prot: F263_HUMAN, Q16875
    Similarity: In the C-terminal section; belongs to the phosphoglycerate mutase family


    (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: F263_HUMAN, Q16875
    Function: Synthesis and degradation of fructose 2,6-bisphosphate
    Catalytic activity: Beta-D-fructose 2,6-bisphosphate + H(2)O = D-fructose 6-phosphate + phosphate
    Catalytic activity: ATP + D-fructose 6-phosphate = ADP + beta-D-fructose 2,6-bisphosphate

         Genatlas biochemistry entry for PFKFB3:
    fructose 2,6-P2 synthesis and degradation,bifunctional enzyme,?,expressed in kidney

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidPFKFB3 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:00038736-phosphofructo-2-kinase activity NAS8830046
    GO:0004331fructose-2,6-bisphosphate 2-phosphatase activity IEA--
    GO:0005524ATP binding IEA--


    PFKFB3 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for PFKFB3:
     Decreased 12E8 and total tau p 

    Animal Models:
         Mouse knock-out Pfkfb3tm1Jche for PFKFB3
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Pfkfb3):
     mortality/aging 

    PFKFB3 for phenotypes           About GeneDecksing


    (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 - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glucose metabolism
    Glucose metabolism1.00
    Glycolysis0.44
    2Glucose / Energy Metabolism
    Glucose / Energy Metabolism1.00
    3AMPK Enzyme Complex Pathway
    AMPK Enzyme Complex Pathway1.00
    4Akt Signaling
    Akt Signaling1.00
    5AMPK signaling
    AMPK signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PFKFB3
        AMPK Enzyme Complex Pathway
    Akt Signaling

    1 Cell Signaling Technology (CST) Pathway for PFKFB3
        Glucose / Energy Metabolism

    2 BioSystems Pathways for PFKFB3 
        AMPK signaling
    HIF-1-alpha transcription factor network

    4        Reactome Pathways for PFKFB3
        Metabolism of carbohydrates
    Metabolism
    Glucose metabolism
    Glycolysis


    1         Kegg Pathway  (Kegg details for PFKFB3):
        Fructose and mannose metabolism


    PFKFB3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PFKFB3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/25 Interacting proteins for PFKFB3 (Q168753 ENSP000003691004) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL2Q136173, ENSP000003638804I2D: score=2 STRING: ENSP00000363880
    AKT1P317493I2D: score=1 
    ARRB1P494073I2D: score=1 
    ARRB2P321213I2D: score=1 
    ERBB2IPQ96RT13I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006000fructose metabolic process IEA--
    GO:0006003fructose 2,6-bisphosphate metabolic process NAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006096glycolysis TAS--


    PFKFB3 for ontologies           About GeneDecksing



    (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

    PFKFB3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PFKFB3

    7 HMDB Compounds for PFKFB3    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-Phosphoglyceric acid2-(dihydrogen phosphate)Glycerate (see all 16)2553-59-5--
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Beta-D-Fructose 6-phosphatebeta-D-Fructose 6-phosphate (see all 2)----
    D-Fructose 2,6-bisphosphateD-Fructose 2,6-bisphosphate (see all 6)----
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--
    10/19 Novoseek chemical compound relationships for PFKFB3 gene (see all 19)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fructose-6-phosphate 79.4 4 1833982 (1), 15994045 (1), 2163613 (1), 8394741 (1)
    fructose 57.4 2 20006513 (1), 10072580 (1)
    glycerol 3-phosphate 48.1 2 7499445 (1), 8394741 (1)
    glucose 45.3 14 19473963 (2), 18039179 (2), 15640157 (1), 19937972 (1) (see all 11)
    phosphoenolpyruvate 41.6 3 7499445 (1), 2163613 (1), 8394741 (1)
    lactate 36.5 5 16912547 (1), 18202014 (1), 17805487 (1), 2163613 (1) (see all 5)
    citrate 34.1 3 10521487 (1), 7499445 (1), 2163613 (1)
    atp 32.7 2 18202014 (1), 12417335 (1)
    vegf 26.1 5 15640157 (1), 17143338 (1), 15925437 (1), 16311927 (1) (see all 5)
    phosphocreatine 25 1 12417335 (1)

    Search CenterWatch for drugs/clinical trials and news about PFKFB3 / F263 

    (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 PFKFB3 gene (2 alternative transcripts): 
    NM_001145443.1  NM_004566.3  

    Unigene Cluster for PFKFB3:

    6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
    Hs.195471  [show with all ESTs]
    Unigene Representative Sequence: NM_004566
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379789(uc001ijd.3 uc010qaw.2 uc009xik.3 uc009xil.3)
    ENST00000490474 ENST00000467491 ENST00000477914 ENST00000379785 ENST00000461744
    ENST00000317350 ENST00000360521 ENST00000379775(uc001ije.3 uc001ijf.3)
    ENST00000358499(uc001ijg.3 uc009xij.3) ENST00000450232 ENST00000487989
    ENST00000475881 ENST00000414237 ENST00000441697 ENST00000536985(uc009xii.3)
    ENST00000540253 ENST00000379782

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    Additional cDNA sequence: 

    AF056320.1 AF109735.1 AJ227868.1 AJ272438.1 AJ272439.1 AJ272440.1 AJ295747.1 AK291263.1 
    AK303039.1 AK304450.1 BC037258.1 BC040482.1 D49817.1 L77662.1 

    14 DOTS entries:

    DT.92439698  DT.92439691  DT.95148380  DT.99995463  DT.100775884  DT.75117867  DT.92439689  DT.91746482 
    DT.95095678  DT.95377617  DT.121274363  DT.121274440  DT.75138328  DT.95107470 

    24/213 AceView cDNA sequences (see all 213):

    BU193109 BQ003837 BM904874 AW572037 AJ272440 CA389453 AW130192 CK819925 
    AI567474 BM141854 BE326961 AI952793 AW768640 AW449507 AW471347 AI580224 
    AI648689 BX642776 BM505274 AW779837 T08556 AJ227868 AJ272439 H88301 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for PFKFB3 (see all 10)    About this scheme

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

    ExUns: 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c · 19d
    SP1:              -           -                           
    SP2:  -     -     -           -                           
    SP3:              -     -     -                           
    SP4:                                                      
    SP5:              -                                       


    ECgene alternative splicing isoforms for PFKFB3

    (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

    PFKFB3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AACTTTTGGC

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

    About this image

    PFKFB3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartMyocardiumCardiac FibroblastsEpicardium
    BoneEndochondral Facial BonesBone
    BoneStylopod Long BoneBone
    BoneZeugopod Long BoneBone
    CartilageMeckel's CartilageCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Pancreatic endoderm/endocrine precursor-like cells (A scalable, suspensi...)

    See PFKFB3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PFKFB3

    SOURCE GeneReport for Unigene cluster: Hs.195471

    UniProtKB/Swiss-Prot: F263_HUMAN, Q16875
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Arrays including PFKFB3: 
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    (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 PFKFB3 gene from 8/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfkfb31 , 5 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more1, 5 88.46(n)1
    97.69(a)1
      2 (8.73 cM)5
    1707681  NM_133232.31  NP_573495.21 
     114714305 
    chicken
    (Gallus gallus)
    Aves PFKFB31 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more 80.26(n)
    87.06(a)
      418247  XM_416472.3  XP_416472.2 
    lizard
    (Anolis carolinensis)
    Reptilia PFKFB36
    --
    77(a)
    1 ↔ 1
    5(571669-598313)
    zebrafish
    (Danio rerio)
    Actinopterygii BC060925.12   -- 75.97(n)    BC060925.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pfrx6
    6-phosphofructo-2-kinase
    35(a)
    1 → many
    X(19389538-19403390)
    worm
    (Caenorhabditis elegans)
    Secernentea Y110A7A.6b3
    Y110A7A.61
    Protein Y110A7A.61 56(a)
    (best of 3)3
    56.22(n)1
    57.42(a)1
      I(5131526-5133910)3
    1721471  NM_059128.41  NP_491529.21 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons F2KP6
    fructose-2,6-bisphosphatase
    25(a)
    possible ortholog
    1(2178104-2184148)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    6PF-2-K/Fru-2,6-P2ASE liver isozyme, putative, exp...
    6PF-2-K/Fru-2,6-P2ASE liver isozyme, putative, exp...
    28(a)
    23(a)
    possible ortholog
    possible ortholog
    3(10257526-10270089)
    5(3763090-3771440)


    ENSEMBL Gene Tree for PFKFB3 (if available)
    TreeFam Gene Tree for PFKFB3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PFKFB3 gene
    PFKFB12  PFKFB22  PFKFB42  
    18/126 SIMAP similar genes for PFKFB3 using alignment to 14 protein entries:     F263_HUMAN (see all proteins) (see all similar genes):
    PFK2    HINFP    PACRG    SPG7    ZNF620    ADCK1
    ARL6IP5    IRF2    FTSJ2    MRPL45    MSH5    NKIRAS2
    TUBA1C    PTPLAD1    ZNF554    PFKFB4    CDK10    MFSD12

    PFKFB3 for paralogs           About GeneDecksing



    (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

    10/2391 NCBI SNPs in PFKFB3 are shown (see all 2391    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1492057981,2
    C--6182016(+) CACAA-/CCCCTCC 1 -- int10--------
    rs57828811,2
    C,F,--6184526(+) TGCTGC/-CCATG 1 -- int15Minor allele frequency- -:0.40NA CSA 10
    rs18870281,2
    C,F,A,H,--6184858(-) CCAAAA/GCCCTT 1 -- us2k12Minor allele frequency- G:0.15WA EA 238
    rs9431231,2
    C,H,--6184862(-) GCTTCT/CAAAAC 1 -- us2k112Minor allele frequency- C:0.04WA NA CSA EA 375
    rs9431221,2
    C,F,A,H,--6184909(-) GGGCCG/ATGGCT 1 -- us2k14Minor allele frequency- A:0.09NS WA NA EA 478
    rs9431211,2
    C,F,A,H,--6184913(-) GATGGG/TGCCGT 1 -- us2k13Minor allele frequency- T:0.14WA NA EA 358
    rs1396177101,2
    --6184961(+) GCGGCA/GGTGGC 1 -- us2k10--------
    rs115991161,2
    C,F,H,--6184982(+) CAGGCG/AGGATG 1 -- us2k12Minor allele frequency- A:0.13NA 124
    rs115934741,2
    C,F,H,--6185016(+) TGGCCT/CTGGAT 1 -- us2k15Minor allele frequency- C:0.09NA CSA WA EA 364
    rs1835994361,2
    --6185047(+) GTTACA/GTCCAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for PFKFB3 (6186843 - 6277508 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for PFKFB3
         3 CNVs: 53482 48007 100844
         4 Indels: 11455 10676 24532 10675

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

    PFKFB3 for disorders           About GeneDecksing

    OMIM gene information: 605319    OMIM disorders: --

    20/22 diseases for PFKFB3 (see all 22):    About MalaCards
    renal carcinoma    glycogen storage disease    carcinoma    chronic lymphocytic leukemia
    lymphocytic leukemia    colon adenocarcinoma    renal cell carcinoma    ischemia
    adenocarcinoma    leukemia    alzheimer's disease    gastric cancer
    pancreatic cancer    prostate carcinoma    astrocytoma    pancreatitis
    glioblastoma    obesity    hypoxia    prostatitis

    6 Novoseek disease relationships for PFKFB3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    colon adenocarcinoma 45.9 5 12007784 (2), 12384552 (1)
    cancer 26.8 21 16115917 (4), 17143338 (3), 12384552 (3), 12963966 (1) (see all 12)
    solid tumor 3.29 1 16912547 (1)
    tumors 2.7 9 16115917 (3), 12384552 (2), 12963966 (1), 10077634 (1) (see all 5)
    leukemia 0 1 16912547 (1)
    ischemia 0 3 12392881 (3)

    Human Genome Epidemiology (HuGE) Navigator: PFKFB3 (1 document)

    Export disorders for PFKFB3 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 PFKFB3 gene, integrated from 9 sources (see all 105):
    (articles sorted by number of sources associating them with PFKFB3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning, expression, and chromosomal localization of a ubiquitously expressed human 6-phosphofructo-2-kinase/ fructose-2, 6- bisphosphatase gene (PFKFB3). (PubMed id 10072580)1, 2, 3, 9 Manzano A.... Bartrons R. (1998)
    2. An inducible gene product for 6-phosphofructo-2-kinase with an AU- rich instability element: role in tumor cell glycolysis and the Warburg effect. (PubMed id 10077634)1, 2, 9 Chesney J.... Bucala R. (1999)
    3. The third human isoform of 6-phosphofructo-2-kinase/fructose-2,6- bisphosphatase (PFKFB3) map position 10p14-p15. (PubMed id 9146922)1, 3, 9 Nicholl J....Watts C.K. (1997)
    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. Antigens recognized by autologous antibody in patients with renal- cell carcinoma. (PubMed id 10508479)1, 2 Scanlan M.J....Old L.J. (1999)
    6. Cloning of cDNA encoding for a novel isozyme of fructose 6-phosphate, 2-kinase/fructose 2,6-bisphosphatase from human placenta. (PubMed id 8830046)1, 2 Sakai A.... Sakakibara R. (1996)
    7. High expression of inducible 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (iPFK-2; PFKFB3) in human cancers. (PubMed id 12384552)1, 9 Atsumi T....Bucala R. (2002)
    8. Hypoxic regulation of PFKFB-3 and PFKFB-4 gene expression in gastric and pancreatic cancer cell lines and expression of PFKFB genes in gastric cancers. (PubMed id 17143338)1, 9 Bobarykina A.Y....Minchenko O.H. (2006)
    9. Cloning and chromosomal characterization of the 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase-3 gene (PFKFB3, iPFK2). (PubMed id 12963966)1, 9 Mahlknecht U....Bucala R. (2003)
    10. Nuclear targeting of 6-phosphofructo-2-kinase (PFKFB3 ) increases proliferation via cyclin-dependent kinases. (PubMed id 19473963)1, 9 Yalcin A....Chesney J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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: 5209 HGNC: 8874 AceView: PFKFB3 Ensembl:ENSG00000170525 euGenes: HUgn5209
    ECgene: PFKFB3 Kegg: 5209 H-InvDB: PFKFB3

    (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 PFKFB3 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 PFKFB3 gene:
    Search GeneIP for patents involving PFKFB3

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



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