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PFKFB4 Gene

protein-coding   GIFtS: 65
GCID: GC03M048555

6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 4

  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)
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Aliases
6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 41 2     6-phosphofructo-2-kinase/fructose-2,6-biphosphatase-42
6PF-2-K/Fru-2,6-P2ase 42 3     6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 42
6PF-2-K/Fru-2,6-P2ase Testis-Type Isozyme2 3     Bifunctional Enzyme With Kinase And Biphosphatase Activities2
PFK/FBPase 42 3     

External Ids:    HGNC: 88751   Entrez Gene: 52102   Ensembl: ENSG000001142687   OMIM: 6053205   UniProtKB: Q168773   

Export aliases for PFKFB4 gene to outside databases

Previous GC identifers: GC03M048349 GC03M047841 GC03M048516 GC03M048517 GC03M048530


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PFKFB4 Gene:
PFKFB4 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4) is a protein-coding gene. Diseases associated with PFKFB4 include hypoxia, and breast and colorectal cancer. GO annotations related to this gene include 6-phosphofructo-2-kinase activity and fructose-2,6-bisphosphate 2-phosphatase activity. An important paralog of this gene is PFKFB3.

UniProtKB/Swiss-Prot: F264_HUMAN, Q16877
Function: Synthesis and degradation of fructose 2,6-bisphosphate

Gene Wiki entry for PFKFB4 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PFKFB4 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPFKFB4 promoter sequence
   Search Chromatin IP Primers for PFKFB4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PFKFB4


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

Entrez Gene cytogenetic band: 3p22-p21   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p22-p21

PFKFB4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PFKFB4 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M048555:  view genomic region     (about GC identifiers)

Start:
48,555,117 bp from pter      End:
48,599,448 bp from pter
Size:
44,332 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: F264_HUMAN, Q16877 (See protein sequence)
Recommended Name: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4  
Size: 469 amino acids; 54040 Da
Subunit: Homodimer (By similarity)
Secondary accessions: Q5S3G5

Explore the universe of human proteins at neXtProt for PFKFB4: NX_Q16877

Explore proteomics data for PFKFB4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PFKFB4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004558.1  
    ENSEMBL proteins: 
     ENSP00000232375   ENSP00000388394   ENSP00000389169   ENSP00000400772   ENSP00000373240  
     ENSP00000407657   ENSP00000393047   ENSP00000415764   ENSP00000438908   ENSP00000437446  
     ENSP00000437844  
    Reactome Protein details: Q16877

    PFKFB4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PFKFB4

    PFKFB4 Antibody Products:

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    Cloud-Clone Corp. CLIAs for PFKFB4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR016260 Bifunct_6PFK/fruc_bisP_Ptase
     IPR001345 PG/BPGM_mutase_AS
     IPR003094 6Pfruct_kin
     IPR013079 6Phosfructo_kin
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q16877

    ProtoNet protein and cluster: Q16877

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


    UniProtKB/Swiss-Prot: F264_HUMAN, Q16877
    Similarity: In the C-terminal section; belongs to the phosphoglycerate mutase family


    PFKFB4 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: F264_HUMAN, Q16877
    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
    Enzyme regulation: The most important regulatory mechanism of these opposing activities is by phosphorylation and
    dephosphorylation of the enzyme (By similarity)

         Genatlas biochemistry entry for PFKFB4:
    6-phosphofructo-2-kinase-fructose-2,6-biphosphatase bifunctional enzyme responsible for the synthesis and
    breakdown of fructose 2,6 biphosphate,key metabolite in the regulation of glycolysis,expressed in testis

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038736-phosphofructo-2-kinase activity NAS10095107
    GO:0004331fructose-2,6-bisphosphate 2-phosphatase activity IEA--
    GO:0005524ATP binding IEA--
         
    PFKFB4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for PFKFB4:
     Decreased focal adhesion (FA)  

         1 MGI phenotypic allele for Pfkfb4 (no phenotypes)

    PFKFB4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PFKFB4
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    miRNA
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    miRTarBase miRNAs that target PFKFB4:
    hsa-mir-335-5p (MIRT016861), hsa-mir-92b-3p (MIRT040714)

    Block miRNA regulation of human, mouse, rat PFKFB4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PFKFB4 (see all 35):
    hsa-miR-330-5p hsa-miR-15a hsa-miR-25 hsa-miR-128 hsa-miR-3138 hsa-miR-548l hsa-miR-424 hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidPFKFB4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PFKFB4

    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFKFB4

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKFB4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion3
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    PFKFB4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PFKFB4 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Akt Signaling
    Akt Signaling0.60
    2MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    3Glucose metabolism
    Glucose metabolism0.44
    4Glycolysis and gluconeogenesis short map
    Glycolysis0.40
    5Metabolism
    Metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PFKFB4
        AMPK Enzyme Complex Pathway
    Akt Signaling


    1 Reactome Pathway for PFKFB4
        Glycolysis


    2 Kegg Pathways  (Kegg details for PFKFB4):
        Fructose and mannose metabolism
    HIF-1 signaling pathway


    PFKFB4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including PFKFB4: 
              Hypoxia Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PFKFB4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    Selected Interacting proteins for PFKFB4 (Q168772, 3 ENSP000002323754) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253517 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253517 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253517 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253517 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8253517 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    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 IEA--
    GO:0006006glucose metabolic process TAS--
    GO:0006096glycolytic process TAS--

    PFKFB4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PFKFB4 (F264)

    7 HMDB Compounds for PFKFB4    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--

    2 DrugBank Compounds for PFKFB4    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Fructose-6-Phosphate-- --target--17139284 17016423 10592235
    Phosphoaminophosphonic Acid-Adenylate Ester-- --target--17139284 17016423 10592235

    3 Novoseek inferred chemical compound relationships for PFKFB4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cobalt chloride 75.4 1 15474002 (1)
    deferoxamine 56.5 1 15474002 (1)
    vegf 51 4 17143338 (1), 15925437 (1), 16311927 (1), 16025159 (1)



    PFKFB4 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PFKFB4 gene: 
    NM_004567.2  

    Unigene Cluster for PFKFB4:

    6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
    Hs.476217  [show with all ESTs]
    Unigene Representative Sequence: NM_004567
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000232375(uc003ctv.3 uc003ctw.3 uc010hkc.3 uc003ctx.3 uc010hkb.3 uc011bbm.2)
    ENST00000416568 ENST00000417753 ENST00000445633 ENST00000383734 ENST00000490115
    ENST00000478516 ENST00000452531 ENST00000468162 ENST00000412035 ENST00000471890
    ENST00000496767 ENST00000422701 ENST00000490404 ENST00000467176 ENST00000536104
    ENST00000541519 ENST00000545984(uc011bbn.1)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PFKFB4 (see all 35):
    hsa-miR-330-5p hsa-miR-15a hsa-miR-25 hsa-miR-128 hsa-miR-3138 hsa-miR-548l hsa-miR-424 hsa-miR-149
    SwitchGear 3'UTR luciferase reporter plasmidPFKFB4 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat PFKFB4

    Additional mRNA sequence: 

    AF108765.1 AK298732.1 AK299097.1 AK312623.1 AY707863.1 AY714243.1 AY756062.1 AY756063.1 
    AY756064.1 BC010269.1 D49818.1 

    10 DOTS entries:

    DT.209790  DT.120868602  DT.120868607  DT.92003590  DT.100734924  DT.91706860  DT.100733991  DT.120868611 
    DT.91679723  DT.91679727 

    Selected AceView cDNA sequences (see all 80):

    BG056306 Z45155 BM673013 BU848741 AI633801 AI961045 F02099 BQ926967 
    AW193821 AI699924 AL038786 CD370053 AW589829 BG681134 BQ894396 AI123746 
    BI826350 BF062291 AI220522 NM_004567 AI336996 F05856 BE279356 BE408167 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PFKFB4 (see all 10)    About this scheme

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


    ECgene alternative splicing isoforms for PFKFB4

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    PFKFB4 expression in normal human tissues (normalized intensities)      PFKFB4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAACACTGTG
    PFKFB4 Expression
    About this image


    PFKFB4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
    PFKFB4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PFKFB4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.476217
        Pathway & Disease-focused RT2 Profiler PCR Array including PFKFB4: 
              Hypoxia Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKFB4

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PFKFB4 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfkfb41 , 5 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more1, 5 89.2(n)1
    97.44(a)1
      9 (59.63 cM)5
    2701981  NM_173019.51  NP_766607.31 
     1089919025 
    chicken
    (Gallus gallus)
    Aves LOC1008596531 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more 77.35(n)
    92.22(a)
      100859653  XM_004944392.1  XP_004944449.1 
    lizard
    (Anolis carolinensis)
    Reptilia PFKFB46
    6-phosphofructo-2-kinase/fructose-2,6-biphosphatas...
    88(a)
    1 ↔ 1
    2(155763814-155838804)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pfkfb41 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more 73.89(n)
    83.26(a)
      407880  NM_213666.2  NP_998831.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pfkfb42 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more 77.59(n)   386663  BC060931.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pfrx6
    6-phosphofructo-2-kinase
    36(a)
    1 → many
    X(19389538-19403390)
    worm
    (Caenorhabditis elegans)
    Secernentea Y110A7A.6b3   -- 56(a)
    (best of 3)
      I(5131526-5133910)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes (YLR345W)4 Similar to 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase more   --   12(820511-822040) 851059  NP_013449.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons F2KP1 F2KP 52.36(n)
    48.27(a)
      837221  NM_100584.4  NP_172191.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01641001 Os05g0164100 53.51(n)
    49.07(a)
      4337906  NM_001061275.1  NP_001054740.1 


    ENSEMBL Gene Tree for PFKFB4 (if available)
    TreeFam Gene Tree for PFKFB4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PFKFB4 gene
    PFKFB32  PFKFB12  PFKFB22  
    4 SIMAP similar genes for PFKFB4 using alignment to 11 protein entries:     F264_HUMAN (see all proteins):
    PFKFB3    DKFZp781D2217    PFKFB2    PFKFB1

    PFKFB4 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for PFKFB4 (see all 737)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0360754
    A breast cancer sample4--see VAR_0360752 N K mis40--------
    rs1497723871,2
    --48554673(+) AAAGAA/TAAAGA 1 -- int10--------
    rs792383371,2
    C,F--48554739(+) TCCTTG/AACCCA 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1456847131,2
    --48554773(+) AATGCC/TGCATT 1 -- int10--------
    rs1407245501,2
    --48554978(+) GTGAGA/GGTGAA 1 -- int10--------
    rs1834947011,2
    --48555068(+) CCAGAA/GAAAAA 1 -- int10--------
    rs40750821,2
    C,F,A,H--48555082(+) CTTCAG/CAAATG 1 -- int139Minor allele frequency- C:0.28NS EA NA WA CSA 3682
    rs1859916521,2
    --48555205(+) AACTCA/GGGAAA 1 -- ut310--------
    rs1148205751,2
    C,F--48555246(+) TGGCCG/AAAATG 1 -- ut311Minor allele frequency- A:0.03NA 120
    rs1904011101,2
    --48555369(+) GTCCTC/TGTAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PFKFB4 (48555117 - 48599448 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PFKFB4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv876762CNV Loss21882294
    nsv834685CNV Loss17160897
    nsv523981CNV Loss19592680
    nsv834684CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PFKFB4
    DNA2.0 Custom Variant and Variant Library Synthesis for PFKFB4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605320    OMIM disorders: --

    8 diseases for PFKFB4:    About MalaCards
    hypoxia    breast and colorectal cancer    pancreatic cancer    inflammatory bowel disease
    pancreatitis    colorectal cancer    cerebritis    hepatitis


    PFKFB4 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PFKFB4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 25.6 10 15925437 (3), 16025159 (3), 17143338 (2), 15474002 (2)


    Export disorders for PFKFB4 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)
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    PubMed articles for PFKFB4 gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with PFKFB4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression and chromosomal localization of a human testis 6- phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene. (PubMed id 10095107)1, 2, 3, 9 Manzano A.... Bartrons R. (Gene 1999)
    2. 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, 3 Sakai A.... Sakakibara R. (J. Biochem. 1996)
    3. Specific expression of pfkfb4 gene in spermatogonia germ cells and analysis of its 5'-flanking region. (PubMed id 15642344)1, 2, 9 Gomez M.... Bartrons R. (FEBS Lett. 2005)
    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. (Genome Res. 2004)
    5. 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. (Acta Biochim. Pol. 2006)
    6. Hypoxia induces transcription of 6-phosphofructo-2-kinase/fructose- 2,6-biphosphatase-4 gene via hypoxia-inducible factor-1alpha activation. (PubMed id 15474002)1, 9 Minchenko O.... Esumi H. (FEBS Lett. 2004)
    7. Overexpression of 6-phosphofructo-2-kinase/fructose-2,6- bisphosphatase-4 in the human breast and colon malignant tumors. (PubMed id 15925437)1, 9 Minchenko O.H.... Esumi H. (Biochimie 2005)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. PFKFB4 as a prognostic marker in non-muscle-invasive bladder cancer. (PubMed id 21396842)1 Yun S.J....Kim W.J. (Urol. Oncol. 2012)
    10. Coordinated expression of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 and heme oxygenase 2: evidence for a regulatory link between glycolysis and heme catabolism. (PubMed id 22892400)1 Li B....Furuyama K. (Tohoku J. Exp. Med. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5210 HGNC: 8875 AceView: SCOTIN Ensembl:ENSG00000114268 euGenes: HUgn5210
    ECgene: PFKFB4 Kegg: 5210 H-InvDB: PFKFB4

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for PFKFB4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PFKFB4 gene:
    Search GeneIP for patents involving PFKFB4

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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