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PFKFB1 Gene

protein-coding   GIFtS: 65
GCID: GC0XM054976

6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 1


(Previous symbol: PFRX)
  Search for PFKFB1
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 11 2     PFK/FBPase 12 3
PFRX1 2 3 5     6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 12
6PF-2-K/Fru-2,6-P2ase Liver Isozyme2 3     HL2K2
6PF-2-K/Fru-2,6-P2ase 12 3     fructose-6-phosphate,2-kinase:fructose-2,6-bisphosphatase2
F6PK2 3     

External Ids:    HGNC: 88721   Entrez Gene: 52072   Ensembl: ENSG000001585717   OMIM: 3117905   UniProtKB: P161183   

Export aliases for PFKFB1 gene to outside databases

Previous GC identifers: GC0XM051811 GC0XM052897 GC0XM053564 GC0XM053926 GC0XM054842 GC0XM052011


(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 PFKFB1 Gene:
This gene encodes a member of the family of bifunctional 6-phosphofructo-2-kinase:fructose-2,6-biphosphatase
enzymes. The enzyme forms a homodimer that catalyzes both the synthesis and degradation of
fructose-2,6-biphosphate using independent catalytic domains. Fructose-2,6-biphosphate is an activator of the
glycolysis pathway and an inhibitor of the gluconeogenesis pathway. Consequently, regulating
fructose-2,6-biphosphate levels through the activity of this enzyme is thought to regulate glucose homeostasis.
Multiple alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Nov 2012)

GeneCards Summary for PFKFB1 Gene:
PFKFB1 (6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1) is a protein-coding gene. GO annotations related to this gene include fructose-2,6-bisphosphate 2-phosphatase activity and identical protein binding. An important paralog of this gene is PFKFB3.

UniProtKB/Swiss-Prot: F261_HUMAN, P16118
Function: Synthesis and degradation of fructose 2,6-bisphosphate

Gene Wiki entry for PFKFB1 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_000023.10  NT_011630.15  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PFKFB1 gene promoter:
         E2F-4   E2F-3a   E2F-5   RP58   E2F-1   E2F   Chx10   E2F-2   POU3F2   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPFKFB1 promoter sequence
   Search Chromatin IP Primers for PFKFB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PFKFB1


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

Entrez Gene cytogenetic band: Xp11.21   Ensembl cytogenetic band:  Xp11.21   HGNC cytogenetic band: Xp11.21

PFKFB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PFKFB1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM054976:  view genomic region     (about GC identifiers)

Start:
54,959,394 bp from pter      End:
55,024,967 bp from pter
Size:
65,574 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: F261_HUMAN, P16118 (See protein sequence)
Recommended Name: 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1  
Size: 471 amino acids; 54681 Da
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for PFKFB1:
1K6M (3D)    
Secondary accessions: B2RA88 Q5JXS5 Q99951

Explore the universe of human proteins at neXtProt for PFKFB1: NX_P16118

Explore proteomics data for PFKFB1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PFKFB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001258733.1  NP_001258734.1  NP_002616.2  

    ENSEMBL proteins: 
     ENSP00000364145   ENSP00000444074   ENSP00000364131  
    Reactome Protein details: P16118

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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 P16118

    ProtoNet protein and cluster: P16118

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


    UniProtKB/Swiss-Prot: F261_HUMAN, P16118
    Similarity: In the C-terminal section; belongs to the phosphoglycerate mutase family


    Find genes that share domains with PFKFB1           About GenesLikeMe


    (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, 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: F261_HUMAN, P16118
    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 inhibition of the kinase activity

         Genatlas biochemistry entry for PFKFB1:
    fructose 2,6-P2 synthesis and degradation,bifunctional enzyme,expressed in liver,activated by the binding of HNF3
    (A,B,G) to the glucocorticoid response unit (GRU) antagonized by the binding of HNF6 to the gene (GRU)

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00038736-phosphofructo-2-kinase activity TAS12379646
    GO:0004331fructose-2,6-bisphosphate 2-phosphatase activity TAS--
    GO:0005515protein binding IPI10222032
    GO:0005524ATP binding IEA--
    GO:0016301kinase activity ----
         
    Find genes that share ontologies with PFKFB1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PFKFB1:
     Decreased cell number, increas  Decreased focal adhesion (FA)   Decreased viability 

         1 MGI phenotypic allele for Pfkfb1 (no phenotypes)

    Find genes that share phenotypes with PFKFB1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PFKFB1
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    hsa-miR-34b* hsa-miR-3919 hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidPFKFB1 3' UTR sequence
    Inhib. RNA
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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
    cytosol5
    nucleus2
    plasma membrane2
    endoplasmic reticulum1
    golgi apparatus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:00435406-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex IDA12379646

    Find genes that share ontologies with PFKFB1           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 PFKFB1 About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1Integration of energy metabolism
    Integration of energy metabolism0.75
    PP2A-mediated dephosphorylation of key metabolic factors0.00
    PKA-mediated phosphorylation of key metabolic factors0.00
    2Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    3Akt Signaling
    Akt Signaling0.60
    4MPS VI - Maroteaux-Lamy syndrome
    Metabolism of carbohydrates0.45
    5Glycolysis and gluconeogenesis short map
    Glycolysis0.40


    Find genes that share SuperPaths with PFKFB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PFKFB1
        AMPK Enzyme Complex Pathway
    Akt Signaling

    4 Reactome Pathways for PFKFB1
        Gluconeogenesis
    PP2A-mediated dephosphorylation of key metabolic factors
    PKA-mediated phosphorylation of key metabolic factors
    Glycolysis


    2 Kegg Pathways  (Kegg details for PFKFB1):
        Fructose and mannose metabolism
    HIF-1 signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PFKFB1
    Interactions:

        Search GeneGlobe Interaction Network for PFKFB1

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

    Selected Interacting proteins for PFKFB1 (P161181, 2, 3 ENSP000003641454) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GCKP355571, 3, ENSP000002233664EBI-709807,EBI-709928 I2D: score=1 STRING: ENSP00000223366
    PASKQ96RG22, 3, ENSP000002340404MINT-8145447 I2D: score=1 STRING: ENSP00000234040
    MAPK3P273613, ENSP000002630254I2D: score=2 STRING: ENSP00000263025
    FBP1ENSP000003644754STRING: ENSP00000364475
    FBP2ENSP000003644864STRING: ENSP00000364486
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    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 IDA2837207
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS12379646

    Find genes that share ontologies with PFKFB1           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
       Browse drugs & compounds from Enzo Life Sciences
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    Browse Tocris compounds for PFKFB1 (F261)

    8 HMDB Compounds for PFKFB1    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)----
    Fructose 6-phosphateD-Fructose 6-phosphate (see all 13)643-13-0--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    5 DrugBank Compounds for PFKFB1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3-Phosphoglycerol-- --target--17139284 17016423 10592235
    D-Gluco-2,5-Anhydro-1-Deoxy-1-Phosphonohexitol-6-Phosphate-- --target--17139284 17016423 10592235
    Fructose-6-Phosphate-- --target--17139284 17016423 10592235
    Guanosine-5'-Triphosphate-- 86-01-1target--17139284 17016423 10592235
    Phosphothiophosphoric Acid-Adenylate Ester-- --target--17139284 17016423



    (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 PFKFB1 gene (3 alternative transcripts): 
    NM_001271804.1  NM_001271805.1  NM_002625.3  

    Unigene Cluster for PFKFB1:

    6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1
    Hs.444304  [show with all ESTs]
    Unigene Representative Sequence: NM_002625
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375006(uc004dty.1 uc010nkd.1) ENST00000545676(uc011mol.1)
    ENST00000374992
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    Additional mRNA sequence: 

    AK300724.1 AK314089.1 BC096077.1 BC096078.2 BC096079.3 JQ425694.1 JQ425695.1 M19938.1 
    NR_073450.1 X52638.1 

    4 DOTS entries:

    DT.408513  DT.412060  DT.121317561  DT.406752 

    8 AceView cDNA sequences:

    H47320 BX282257 X52638 NM_002625 M19938 AL703826 T62884 H47404 

    GeneLoc Exon Structure


    (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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    PFKFB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGAGGACCA
    PFKFB1 Expression
    About this image


    PFKFB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Limb (Muscoskeletal System)
             Hindlimb Ventral Muscle
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Liver (Hepatobiliary System)
             Perivenous Hepatocytes Liver Lobule
     
     Blood (Hematopoietic System)
             Proerythroblasts Hematopoietic Bone Marrow
     
     Skeletal Muscle (Muscoskeletal System)
             Hindlimb Ventral Muscle
    PFKFB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PFKFB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444304

    UniProtKB/Swiss-Prot: F261_HUMAN, P16118
    Tissue specificity: Liver

        Custom PCR Arrays for PFKFB1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKFB1

    (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 PFKFB1 gene from Selected species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pfkfb11 , 5 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more1, 5 91.03(n)1
    95.25(a)1
      X (68.46 cM)5
    186391  NM_008824.21  NP_032850.11 
     1505882295 
    chicken
    (Gallus gallus)
    Aves PFKFB41 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase more 74.01(n)
    80.99(a)
      415906  NM_001030584.1  NP_001025755.1 
    lizard
    (Anolis carolinensis)
    Reptilia PFKFB16
    6-phosphofructo-2-kinase/fructose-2,6-biphosphatas...
    77(a)
    1 ↔ 1
    1(205678970-205705639)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.159962 Xenopus laevis transcribed sequence with moderate similarity more 78.11(n)    CA788288.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi11h102 wufi11h10 76.91(n)   327453  BC044142.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pfrx6
    6-phosphofructo-2-kinase
    39(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 FBP26(YJL155C)4 Fructose-2,6-bisphosphatase, required for glucose metabolism   --   10(130643-129285) 853286  NP_012380.1 
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.113192 Vitis vinifera transcribed sequence with moderate similarity more 70.47(n)    CB005095.1 
    rice
    (Oryza sativa)
    Liliopsida AK069285.12   -- 70.58(n)    AK069285.1 


    ENSEMBL Gene Tree for PFKFB1 (if available)
    TreeFam Gene Tree for PFKFB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PFKFB1 gene
    PFKFB32  PFKFB22  PFKFB42  
    4 SIMAP similar genes for PFKFB1 using alignment to 6 protein entries:     F261_HUMAN (see all proteins):
    DKFZp781D2217    PFKFB2    PFKFB4    PFKFB3

    Find genes that share paralogs with PFKFB1           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 PFKFB1 (see all 818)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs117197631,2
    H--54967957(+) ctacaC/Ttgaac 4 -- int10--------
    rs774983521,2
    C--54968245(+) AGTTCG/AACCAT 4 -- int18Minor allele frequency- A:0.00NA WA CSA 14
    rs757672781,2
    C,F--54968260(+) GTAGAC/TAGTGT 4 -- int15Minor allele frequency- T:0.37NA CSA 11
    rs782102611,2
    C--54968262(+) AGACAG/CTGTAG 4 -- int17Minor allele frequency- C:0.00NA WA CSA 12
    rs1121660251,2
    F--54968270(+) TGGCGA/TCTCCT 4 -- int11Minor allele frequency- T:0.00CSA 1
    rs1113044811,2
    C,F--54968312(+) CCAGCA/TATCCC 4 -- int11Minor allele frequency- T:0.00CSA 1
    rs3681071741,2
    C--54972135(+) GTATG-/GT/TG 
            
    TGTGT
    4 -- int10--------
    rs1116837141,2
    C--54972136(+) GTGTGTG/-CGTGT 4 -- int11Minor allele frequency- -:0.50CSA 2
    rs30283501,2
    C--54975858(+) gagagAG/-CGCTT 4 -- int1 trp31Minor allele frequency- -:0.50CSA 2
    rs1864012791,2
    --54976451(+) GTCAGA/GGGACT 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for PFKFB1 (54959394 - 55024967 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PFKFB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2740175CNV Deletion23290073
    nsv435891CNV Deletion17901297
    esv2740180CNV Deletion23290073
    nsv6912CNV Loss18451855

    Human Gene Mutation Database (HGMD): PFKFB1
    Locus Specific Mutation Databases (LSDB): PFKFB1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PFKFB1
    DNA2.0 Custom Variant and Variant Library Synthesis for PFKFB1

    (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: 311790    OMIM disorders: --


    Find genes that share disorders with PFKFB1           About GenesLikeMe

    Genetic Association Database (GAD): PFKFB1
    Human Genome Epidemiology (HuGE) Navigator: PFKFB1 (1 document)
    Tumor Gene Database (TGDB): PFKFB1

    Export disorders for PFKFB1 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 PFKFB1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with PFKFB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Localization of human liver 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB1) within a YAC contig in Xp11.21. (PubMed id 9119406)1, 3, 9 Batra R.S....Craig I.W. (Genomics 1997)
    2. Perioperative genomic profiles using structure-specific oligonucleotide probes. (PubMed id 19474452)1, 4 Hogan K.J....Domanico M.J. (amp 2009)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 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. Tissue-specific structure/function differentiation of the liver isoform of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase. (PubMed id 12379646)1, 2 Lee Y.H....Hasemann C.A. (J. Biol. Chem. 2003)
    6. Sequence of human liver 6-phosphofructo-2-kinase/fructose-2,6- bisphosphatase. (PubMed id 2163524)1, 2 Lange A.J. and Pilkis S.J. (Nucleic Acids Res. 1990)
    7. Molecular cloning, sequence analysis, and expression of a human liver cDNA coding for fructose-6-P,2-kinase:fructose-2,6-bisphosphatase. (PubMed id 2837207)1, 2 Algaier J. and Uyeda K. (Biochem. Biophys. Res. Commun. 1988)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)1 Wang J....He F. (J. Proteome Res. 2008)
    10. Drugs, their targets and the nature and number of drug targets. (PubMed id 17016423)7 Imming P....Meyer A. (Nat Rev Drug Discov 2006)

    (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: 5207 HGNC: 8872 AceView: PFKFB1 Ensembl:ENSG00000158571 euGenes: HUgn5207
    ECgene: PFKFB1 Kegg: 5207 H-InvDB: PFKFB1

    (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)
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    NameDescription
    PharmGKB entry for PFKFB1 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 PFKFB1 gene:
    Search GeneIP for patents involving PFKFB1

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



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