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PFKFB2 Gene

protein-coding   GIFtS: 63
GCID: GC01P207226

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

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(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 21 2     6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 22
6PF-2-K/Fru-2,6-P2ase Heart-Type Isozyme2 3     PFK-2/FBPase-22
6PF-2-K/Fru-2,6-P2ase 22 3     Fructose-2,6-Bisphosphatase, Cardiac Isozyme2
PFK/FBPase 22 3     PFKFB, Cardiac2

External Ids:    HGNC: 88731   Entrez Gene: 52082   Ensembl: ENSG000001238367   OMIM: 1718355   UniProtKB: O608253   

Export aliases for PFKFB2 gene to outside databases

Previous GC identifers: GC01P205886 GC01P202936 GC01P203870 GC01P204310 GC01P203616 GC01P205293 GC01P177923


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PFKFB2 Gene:
The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a
regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase
activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity
that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate
levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate
levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two
different isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for PFKFB2 Gene:
PFKFB2 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2) is a protein-coding gene. GO annotations related to this gene include protein kinase binding and 6-phosphofructo-2-kinase activity. An important paralog of this gene is PFKFB3.

UniProtKB/Swiss-Prot: F262_HUMAN, O60825
Function: Synthesis and degradation of fructose 2,6-bisphosphate

Gene Wiki entry for PFKFB2 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 at NCBI GenBank:
NC_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PFKFB2 gene promoter:
         E2F-4   E2F-3a   E2F-5   HTF   Nkx2-5   E2F-2   E2F-1   E2F   HSF2   Msx-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPFKFB2 promoter sequence
   Search Chromatin IP Primers for PFKFB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PFKFB2


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

Entrez Gene cytogenetic band: 1q31   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q31-q32.2

PFKFB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PFKFB2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P207226:  view genomic region     (about GC identifiers)

Start:
207,222,801 bp from pter      End:
207,254,369 bp from pter
Size:
31,569 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: F262_HUMAN, O60825 (See protein sequence)
Recommended Name: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2  
Size: 505 amino acids; 58477 Da
Subunit: Homodimer (By similarity)
Secondary accessions: O60824 Q5VVQ3 Q5VVQ4 Q9H3P1
Alternative splicing: 2 isoforms:  O60825-1   O60825-2   

Explore the universe of human proteins at neXtProt for PFKFB2: NX_O60825

Explore proteomics data for PFKFB2 at MOPED

Post-translational modifications: 

  • Phosphorylation by AMPK stimulates activity1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PFKFB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001018063.1  NP_006203.2  

    ENSEMBL proteins: 
     ENSP00000356047   ENSP00000356046   ENSP00000439420   ENSP00000408717   ENSP00000440878  
    Reactome Protein details: O60825

    PFKFB2 Human Recombinant Protein Products:

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    antibodies-online proteins for PFKFB2 (6 products) 

     
    antibodies-online peptides for PFKFB2

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    (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 O60825

    ProtoNet protein and cluster: O60825

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


    UniProtKB/Swiss-Prot: F262_HUMAN, O60825
    Similarity: In the C-terminal section; belongs to the phosphoglycerate mutase family


    Find genes that share domains with PFKFB2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: F262_HUMAN, O60825
    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: Phosphorylation results in the activation of the kinase activity

         Genatlas biochemistry entry for PFKFB2:
    fructose 2,6-P2 synthesis and degradation,bifunctional enzyme,expressed in heart

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038736-phosphofructo-2-kinase activity IDA11069105
    GO:0004331fructose-2,6-bisphosphate 2-phosphatase activity IEA--
    GO:0005515protein binding IPI8387495
    GO:0005524ATP binding IEA--
    GO:0019900kinase binding ----
         
    Find genes that share ontologies with PFKFB2           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for PFKFB2:
     Decreased viability  Increased apoptosis 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PFKFB2

    miRNA
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    miRTarBase miRNAs that target PFKFB2:
    hsa-mir-181a-5p (MIRT047308), hsa-mir-21-5p (MIRT030745), hsa-mir-122-5p (MIRT023270)

    Block miRNA regulation of human, mouse, rat PFKFB2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PFKFB2 (see all 50):
    hsa-miR-596 hsa-miR-607 hsa-miR-631 hsa-miR-548l hsa-miR-3916 hsa-miR-1304 hsa-miR-1184 hsa-miR-556-3p
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    (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
    nucleus2
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    Find genes that share ontologies with PFKFB2           About GenesLikeMe


    (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 PFKFB2 About   (see all 9)  
    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


    Find genes that share SuperPaths with PFKFB2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PFKFB2
        AMPK Enzyme Complex Pathway
    Akt Signaling

    1 Reactome Pathway for PFKFB2
        Glycolysis


    3 Kegg Pathways  (Kegg details for PFKFB2):
        Fructose and mannose metabolism
    HIF-1 signaling pathway
    Thyroid hormone signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PFKFB2
    Interactions:

        GeneGlobe Interaction Network for PFKFB2

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

    Selected Interacting proteins for PFKFB2 (O608252, 3 ENSP000003560474) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3, ENSP000003095034MINT-3304235 I2D: score=3 STRING: ENSP00000309503
    GCKP355573, ENSP000002233664I2D: score=2 STRING: ENSP00000223366
    PRKACAP176123, ENSP000003095914I2D: score=2 STRING: ENSP00000309591
    AKT1P317493, ENSP000002702024I2D: score=2 STRING: ENSP00000270202
    YWHAQP273483, ENSP000002380814I2D: score=3 STRING: ENSP00000238081
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    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:0006007glucose catabolic process ----

    Find genes that share ontologies with PFKFB2           About GenesLikeMe



    (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
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    Browse Tocris compounds for PFKFB2 (F262)

    7 HMDB Compounds for PFKFB2    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--



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PFKFB2 gene (2 alternative transcripts): 
    NM_001018053.1  NM_006212.2  

    Unigene Cluster for PFKFB2:

    6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
    Hs.282702  [show with all ESTs]
    Unigene Representative Sequence: NM_006212
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367080(uc001hfg.3 uc009xcc.3) ENST00000464777 ENST00000468857
    ENST00000367079(uc010psc.2 uc001hfh.3 uc010psd.2) ENST00000473310
    ENST00000483688 ENST00000545806 ENST00000411990 ENST00000541914
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    Selected qRT-PCR Assays for microRNAs that regulate PFKFB2 (see all 50):
    hsa-miR-596 hsa-miR-607 hsa-miR-631 hsa-miR-548l hsa-miR-3916 hsa-miR-1304 hsa-miR-1184 hsa-miR-556-3p
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    Additional mRNA sequence: 

    AB044805.1 AF470623.1 AJ005578.1 AK125661.1 AK292883.1 AK295367.1 AK302315.1 BC069350.1 
    BC069385.1 BC069583.1 BC069586.1 BC069600.1 BC075075.2 BC075076.2 BC112103.1 BC112105.1 
    CR749442.1 EU334168.1 

    9 DOTS entries:

    DT.210707  DT.107542  DT.91809420  DT.121390148  DT.121390177  DT.100744114  DT.121390179  DT.91981428 
    DT.442688 

    Selected AceView cDNA sequences (see all 135):

    C02436 CF528902 BC069600 BC075075 AA233959 AA446436 AW299854 BC075076 
    BX504976 CF529880 BQ108611 AW592432 AA621500 BQ705993 CB117291 AA026248 
    BF061553 AA912185 AA454131 BQ002833 BC069583 AI190288 AI631267 AI813916 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for PFKFB2    About this scheme

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


    ECgene alternative splicing isoforms for PFKFB2

    (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)
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    PFKFB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PFKFB2 Expression
    About this image


    PFKFB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Thalamus
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Plasmacytoid Dendritic cells Peripheral Blood
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Lung (Respiratory System)
             Trachea
     
     Kidney (Urinary System)
             Metanephros
    PFKFB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PFKFB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.282702

    UniProtKB/Swiss-Prot: F262_HUMAN, O60825
    Tissue specificity: Heart

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

    Orthologs for PFKFB2 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfkfb21 , 5 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more1, 5 89.8(n)1
    93.2(a)1
      1 (56.89 cM)5
    186401  NM_008825.41  NP_032851.21 
     1306890435 
    chicken
    (Gallus gallus)
    Aves PFKFB21 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more 78.3(n)
    89.72(a)
      419850  XM_004934966.1  XP_004935023.1 
    lizard
    (Anolis carolinensis)
    Reptilia PFKFB26
    6-phosphofructo-2-kinase/fructose-2,6-biphosphatas...
    81(a)
    1 ↔ 1
    GL343228.1(2114584-2150754)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pfkfb21 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more 73.55(n)
    84.92(a)
      100170160  NM_001129923.1  NP_001123395.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC050514.12   -- 75.65(n)   393983  BC050514.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pfrx6
    6-phosphofructo-2-kinase
    38(a)
    1 → many
    X(19389538-19403390)
    worm
    (Caenorhabditis elegans)
    Secernentea Y110A7A.6b3   -- 55(a)
    (best of 3)
      I(5131526-5133910)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FBP261 FBP26 51.75(n)
    49.39(a)
      853286   NP_012380.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g02942001 Os03g0294200 52.43(n)
    46.48(a)
      4332523  NM_001056350.1  NP_001049815.1 


    ENSEMBL Gene Tree for PFKFB2 (if available)
    TreeFam Gene Tree for PFKFB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PFKFB2 gene
    PFKFB32  PFKFB12  PFKFB42  
    4 SIMAP similar genes for PFKFB2 using alignment to 4 protein entries:     F262_HUMAN (see all proteins):
    DKFZp781D2217    PFKFB3    PFKFB4    PFKFB1

    Find genes that share paralogs with PFKFB2           About GenesLikeMe



    (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)
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    Selected SNPs for PFKFB2 (see all 647)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1119178671,2
    C--207228331(+) CTGTTC/TTTGGG 2 -- int10--------
    rs1161514101,2
    C,F--207228452(+) TTGTAC/TACACA 2 -- int11Minor allele frequency- T:0.03WA 118
    rs786858871,2
    F--207228791(+) TTGCGA/CGGAGA 2 -- int11Minor allele frequency- C:0.03WA 118
    rs2021953991,2
    --207228985(+) AGTGG-/TTTTATA 2 -- int10--------
    rs716937011,2
    C--207228987(+) TATATTA/-ATATA 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs345907251,2
    C--207229008(+) ATATA-/TA    
       
    /TATA
    GCCAG
    2 -- int10--------
    rs1878433241,2
    --207229054(+) ACAGCC/TGACCA 2 -- int10--------
    rs596050131,2
    C--207229070(+) AGACCA/GGGAAT 2 -- int10--------
    rs1406891401,2
    --207229107(+) AGCCTC/GGACCT 2 -- int10--------
    rs1498604411,2
    C--207229450(+) AATACG/TAACAG 2 -- int10--------

    HapMap Linkage Disequilibrium report for PFKFB2 (207222801 - 207254369 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PFKFB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv526699CNV Loss19592680
    nsv832426CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PFKFB2
    DNA2.0 Custom Variant and Variant Library Synthesis for PFKFB2

    (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.)
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    OMIM gene information: 171835    OMIM disorders: --


    Find genes that share disorders with PFKFB2           About GenesLikeMe

    Genetic Association Database (GAD): PFKFB2
    Human Genome Epidemiology (HuGE) Navigator: PFKFB2 (4 documents)

    Export disorders for PFKFB2 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 PFKFB2 gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with PFKFB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence and structure of the human 6-phosphofructo-2- kinase/fructose-2,6-bisphosphatase heart isoform gene (PFKFB2). (PubMed id 9652401)1, 2, 9 Heine-Suner D....Rodriguez de Cordoba S. (Eur. J. Biochem. 1998)
    2. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. 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)
    7. Isolation of novel heart-specific genes using the BodyMap database. (PubMed id 11374908)1, 2 Soejima H.... Mukai T. (Genomics 2001)
    8. Phosphorylation and activation of heart PFK-2 by AMPK has a role in the stimulation of glycolysis during ischaemia. (PubMed id 11069105)1, 2 Marsin A.S.... Hue L. (Curr. Biol. 2000)
    9. A role for PFK-2/FBPase-2, as distinct from fructose 2,6-bisphosphate, in regulation of insulin secretion in pancreatic beta-cells. (PubMed id 18039179)1, 9 Arden C....Agius L. (Biochem. J. 2008)
    10. Akt-dependent activation of the heart 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB2) isoenzyme by amino acids. (PubMed id 23457334)1 Novellasdemunt L....Rosa J.L. (J. Biol. Chem. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5208 HGNC: 8873 AceView: PFKFB2 Ensembl:ENSG00000123836 euGenes: HUgn5208
    ECgene: PFKFB2 Kegg: 5208 H-InvDB: PFKFB2

    (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 PFKFB2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PFKFB2 gene:
    Search GeneIP for patents involving PFKFB2

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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