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

PFKFB1 Gene

protein-coding   GIFtS: 66
GCID: GC0XM054976

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


(Previous symbol: PFRX)
  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)
About This Section

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

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. Diseases associated with PFKFB1 include pancreatic cancer, and gastric cancer, and among its related super-pathways are Glucose metabolism and Regulation of Insulin Secretion. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011630.14  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PFKFB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16118

  • PFKFB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PFKFB1 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001258733.1  NP_001258734.1  NP_002616.2  

    ENSEMBL proteins: 
     ENSP00000364145   ENSP00000444074   ENSP00000364131  
    Reactome Protein details: P16118
    Human Recombinant Protein Products for PFKFB1: 
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    PFKFB1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/6 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


    PFKFB1 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/8 molecular function terms (GO ID links to tree view) (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 ----
         
    PFKFB1 for ontologies           About GeneDecksing


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

    Animal Models:
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PFKFB1 About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glucose metabolism
    Glucose metabolism0.50
    Glycolysis0.44
    Gluconeogenesis0.50
    2Regulation of Insulin Secretion
    Integration of energy metabolism0.74
    3Akt Signaling
    Akt Signaling0.60
    4MPS IIIC - Sanfilippo syndrome C
    Metabolism of carbohydrates0.48
    5Metabolism
    Metabolism0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    5/8        Reactome Pathways for PFKFB1 (see all 8)
        Gluconeogenesis
    PP2A-mediated dephosphorylation of key metabolic factors
    Metabolism of carbohydrates
    PKA-mediated phosphorylation of key metabolic factors
    Metabolism


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


    PFKFB1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PFKFB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/14 Interacting proteins for PFKFB1 (P161181, 2, 3 ENSP000003641454) via UniProtKB, MINT, STRING, and/or I2D (see all 14)
    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): 5/17 biological process terms (GO ID links to tree view) (see all 17):    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

    PFKFB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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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

    Search CenterWatch for drugs/clinical trials and news about PFKFB1 / F261

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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:

    BX282257 H47320 NM_002625 X52638 AL703826 M19938 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™, 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

    PFKFB1 expression in normal human tissues (normalized intensities)      PFKFB1 embryonic expression: see
    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 
     5/7 selected tissues (see all 7) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             vastus lateralis   
     
     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

    See PFKFB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PFKFB1

    SOURCE GeneReport for Unigene cluster: Hs.444304

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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PFKFB1 gene from 10/22 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
    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 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)
    About This Section
    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

    PFKFB1 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) 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

    10/818 SNPs in PFKFB1 are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 311790    OMIM disorders: --

    4 diseases for PFKFB1:    About MalaCards
    pancreatic cancer    gastric cancer    pancreatitis    hepatitis


    PFKFB1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for PFKFB1 gene, integrated from 9 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. (1997)
    2. Perioperative genomic profiles using structure-specif ic oligonucleotide probes. (PubMed id 19474452)1, 4 Hogan K.J....Domanico M.J. (2009)
    3. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (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. (2004)
    5. Sequence of human liver 6-phosphofructo-2-kinase/fructose-2,6- bisphosphatase. (PubMed id 2163524)1, 2 Lange A.J. and Pilkis S.J. (1990)
    6. 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. (1988)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)1 Wang J....He F. (2008)
    9. Drugs, their targets and the nature and number of dru g targets. (PubMed id 17016423)7 Imming P....Meyer A. (2006)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

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

    (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 PFKFB1 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 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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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