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Aliases for PFKFB1 Gene

Aliases for PFKFB1 Gene

  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 1 2 3 5
  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 1 3 4
  • 6PF-2-K/Fru-2,6-P2ase 1 3 4
  • PFK/FBPase 1 3 4
  • PFRX 3 4
  • F6PK 3 4
  • Fructose-6-Phosphate,2-Kinase:Fructose-2,6-Bisphosphatase 3
  • 6PF-2-K/Fru-2,6-P2ASE Liver Isozyme 3
  • 6PF-2-K/Fru-2,6-P2ase Liver Isozyme 4
  • HL2K 3

External Ids for PFKFB1 Gene

Previous HGNC Symbols for PFKFB1 Gene

  • PFRX

Previous GeneCards Identifiers for PFKFB1 Gene

  • GC0XM051811
  • GC0XM052897
  • GC0XM053564
  • GC0XM053926
  • GC0XM054842
  • GC0XM052011

Summaries for PFKFB1 Gene

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 Hepatocellular Carcinoma. Among its related pathways are Integration of energy metabolism and Glucose metabolism. Gene Ontology (GO) annotations related to this gene include identical protein binding and kinase binding. An important paralog of this gene is PFKFB4.

UniProtKB/Swiss-Prot for PFKFB1 Gene

Gene Wiki entry for PFKFB1 Gene

Additional gene information for PFKFB1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFKFB1 Gene

Genomics for PFKFB1 Gene

GeneHancer (GH) Regulatory Elements for PFKFB1 Gene

Promoters and enhancers for PFKFB1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ054999 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 600.7 -0.9 -904 3 ELF3 NKRF POLR2A ELF1 SP1 EGR1 IKZF1 KAT8 CREB1 GMEB1 APEX2 PFKFB1 PHF8 PAGE2B
GH0XJ054998 Promoter 0.5 EPDnew 600.7 +0.8 788 0.1 APEX2 PFKFB1 PIR44979
GH0XJ055000 Promoter 0.5 EPDnew 600.7 +1.0 1030 0.1 APEX2 PFKFB1 PIR44979
GH0XJ054884 Enhancer 0.4 Ensembl 11.4 +112.5 112496 5 CEBPG CEBPB TRO APEX2 PFKFB1 ENSG00000275387
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PFKFB1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PFKFB1 gene promoter:
  • ATF
  • Chx10
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • POU3F2
  • RP58

Genomic Locations for PFKFB1 Gene

Genomic Locations for PFKFB1 Gene
66,637 bases
Minus strand
65,574 bases
Minus strand

Genomic View for PFKFB1 Gene

Genes around PFKFB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFKFB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFKFB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFKFB1 Gene

Proteins for PFKFB1 Gene

  • Protein details for PFKFB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 1
    Protein Accession:
    Secondary Accessions:
    • B2RA88
    • B4DUN5
    • Q5JXS5
    • Q99951

    Protein attributes for PFKFB1 Gene

    471 amino acids
    Molecular mass:
    54681 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PFKFB1 Gene

    Alternative splice isoforms for PFKFB1 Gene


neXtProt entry for PFKFB1 Gene

Post-translational modifications for PFKFB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PFKFB1 Gene

Domains & Families for PFKFB1 Gene

Gene Families for PFKFB1 Gene

Suggested Antigen Peptide Sequences for PFKFB1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56883, highly similar to 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (B4DUN5_HUMAN)
  • 6PF-2-K/Fru-2,6-P2ase liver isozyme (F261_HUMAN)
  • 6-phosphofructo-2-kinase/fructose-2, 6-biphosphatase 1 (Q4VBA8_HUMAN)

Graphical View of Domain Structure for InterPro Entry



F261_HUMAN :
  • In the C-terminal section; belongs to the phosphoglycerate mutase family.
  • In the C-terminal section; belongs to the phosphoglycerate mutase family.
genes like me logo Genes that share domains with PFKFB1: view

Function for PFKFB1 Gene

Molecular function for PFKFB1 Gene

UniProtKB/Swiss-Prot Function:
Synthesis and degradation of fructose 2,6-bisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=beta-D-fructose 2,6-bisphosphate + H2O = beta-D-fructose 6-phosphate + phosphate; Xref=Rhea:RHEA:17289, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57634, ChEBI:CHEBI:58579; EC=;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + beta-D-fructose 6-phosphate = ADP + beta-D-fructose 2,6-bisphosphate + H(+); Xref=Rhea:RHEA:15653, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57634, ChEBI:CHEBI:58579, ChEBI:CHEBI:456216; EC=;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Phosphorylation at Ser-33 inhibits the kinase and activates the bisphosphatase.
GENATLAS Biochemistry:
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) - Molecular Function for PFKFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003873 6-phosphofructo-2-kinase activity IEA,TAS 12379646
GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity IEA,IDA 2837207
GO:0005515 protein binding IPI 10222032
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PFKFB1: view
genes like me logo Genes that share phenotypes with PFKFB1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFKFB1

Clone Products

  • Applied Biological Materials (abm): Clones for PFKFB1 - Now 50% OFF >
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  • * PFKFB1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PFKFB1 Gene

Localization for PFKFB1 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PFKFB1 gene
Compartment Confidence
cytosol 5
plasma membrane 1
nucleus 1
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for PFKFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0043540 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex IDA,IBA 12379646
genes like me logo Genes that share ontologies with PFKFB1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for PFKFB1 Gene

Pathways & Interactions for PFKFB1 Gene

genes like me logo Genes that share pathways with PFKFB1: view

Pathways by source for PFKFB1 Gene

Gene Ontology (GO) - Biological Process for PFKFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006000 fructose metabolic process IEA --
GO:0006003 fructose 2,6-bisphosphate metabolic process IEA,IDA 2837207
GO:0006094 gluconeogenesis TAS 12379646
GO:0006096 glycolytic process TAS 12379646
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PFKFB1: view

No data available for SIGNOR curated interactions for PFKFB1 Gene

Drugs & Compounds for PFKFB1 Gene

(9) Drugs for PFKFB1 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium gluconate Approved, Investigational Pharma Enzyme, inducer 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
3-Phosphoglycerol Experimental Pharma Target 0
Adenosine 5'-[γ-thio]triphosphate Experimental Pharma Target 0

(6) Additional Compounds for PFKFB1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Phosphoglyceric acid
  • 3-Hydroxy-2-(phosphonooxy)propanoic acid
  • 3-Hydroxy-2-(phosphonooxy)propanoate
  • 2-Phosphoglycerate
  • 2-(Dihydrogen phosphate)glycerate
  • 2-(Dihydrogen phosphate)glyceric acid
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
Beta-D-Fructose 6-phosphate
  • 6-O-phosphono-beta-D-Fructofuranose
  • FRUCTOSE-6-phosphATE
  • 6-O-phosphono-b-D-Fructofuranose
  • 6-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 6-phosphate
D-Fructose 2,6-bisphosphate
  • 2,6-Di-O-phosphono-beta-D-fructofuranose
  • 2,6-Di-O-phosphono-b-D-fructofuranose
  • 2,6-Di-O-phosphono-β-D-fructofuranose
  • D-Fructose 2,6-bisphosphoric acid
  • b-D-Fructose 2,6-bisphosphate
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphoric acid
  • Fructose-6-phosphate
  • Neuberg ester
  • Fructose 6-phosphoric acid
genes like me logo Genes that share compounds with PFKFB1: view

Transcripts for PFKFB1 Gene

mRNA/cDNA for PFKFB1 Gene

(3) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for PFKFB1 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFKFB1

Clone Products

  • Applied Biological Materials (abm): Clones for PFKFB1 - Now 50% OFF >
  • * PFKFB1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * PFKFB1 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for PFKFB1 Gene

No ASD Table

Relevant External Links for PFKFB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PFKFB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PFKFB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PFKFB1 Gene

This gene is overexpressed in Muscle - Skeletal (x15.8), Liver (x15.2), Adipose - Visceral (Omentum) (x5.8), and Adipose - Subcutaneous (x5.7).

Protein differential expression in normal tissues from HIPED for PFKFB1 Gene

This gene is overexpressed in Liver (39.9) and Heart (16.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PFKFB1 Gene

Protein tissue co-expression partners for PFKFB1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PFKFB1 Gene:


SOURCE GeneReport for Unigene cluster for PFKFB1 Gene:


mRNA Expression by UniProt/SwissProt for PFKFB1 Gene:

Tissue specificity: Liver.

Evidence on tissue expression from TISSUES for PFKFB1 Gene

  • Liver(4.6)
  • Muscle(2.4)
genes like me logo Genes that share expression patterns with PFKFB1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PFKFB1 Gene

Orthologs for PFKFB1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PFKFB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PFKFB1 35
  • 100 (a)
(Monodelphis domestica)
Mammalia PFKFB1 35
  • 94 (a)
(Canis familiaris)
Mammalia PFKFB1 35 34
  • 93.06 (n)
(Bos Taurus)
Mammalia PFKFB1 35 34
  • 92.71 (n)
(Mus musculus)
Mammalia Pfkfb1 17 35 34
  • 91.03 (n)
(Ornithorhynchus anatinus)
Mammalia PFKFB1 35
  • 91 (a)
(Rattus norvegicus)
Mammalia Pfkfb1 34
  • 90.59 (n)
(Gallus gallus)
Aves PFKFB1 35
  • 76 (a)
  • 74.01 (n)
(Anolis carolinensis)
Reptilia PFKFB1 35
  • 77 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488795 34
  • 76.33 (n)
Str.5860 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.15996 34
(Danio rerio)
Actinopterygii PFKFB1 (2 of 2) 35
  • 82 (a)
pfkfb1 35
  • 79 (a)
LOC100330415 34
  • 72.94 (n)
wufi11h10 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8022 34
fruit fly
(Drosophila melanogaster)
Insecta Pfrx 35
  • 39 (a)
(Caenorhabditis elegans)
Secernentea Y110A7A.6b 36
  • 55 (a)
Y110A7A.6a 36
  • 54 (a)
Y110A7A.6 35
  • 53 (a)
K02B2.1 35 36
  • 49 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FBP26 37 35
  • 45 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11319 34
(Hordeum vulgare)
Liliopsida Hv.5420 34
(Triticum aestivum)
Liliopsida Ta.11134 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 64 (a)
Cin.3444 34
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3444 34
Species where no ortholog for PFKFB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PFKFB1 Gene

Gene Tree for PFKFB1 (if available)
Gene Tree for PFKFB1 (if available)
Evolutionary constrained regions (ECRs) for PFKFB1: view image

Paralogs for PFKFB1 Gene

Paralogs for PFKFB1 Gene

(4) SIMAP similar genes for PFKFB1 Gene using alignment to 6 proteins:

  • F261_HUMAN
  • I1Z9G3_HUMAN
  • I1Z9G4_HUMAN
genes like me logo Genes that share paralogs with PFKFB1: view

Variants for PFKFB1 Gene

Sequence variations from dbSNP and Humsavar for PFKFB1 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs373155935 likely-benign, not specified 54,937,730(-) C/A/T intron_variant
rs1000074442 -- 54,990,917(-) G/C intron_variant
rs1000159104 -- 54,962,964(-) A/G intron_variant
rs1000161734 -- 54,937,128(-) C/T intron_variant
rs1000307846 -- 54,943,828(-) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PFKFB1 Gene

Variant ID Type Subtype PubMed ID
dgv2295e212 CNV loss 25503493
esv2740175 CNV deletion 23290073
esv2740180 CNV deletion 23290073
esv3573984 CNV loss 25503493
esv3576884 CNV gain 25503493
nsv435891 CNV deletion 17901297
nsv6912 CNV deletion 18451855

Variation tolerance for PFKFB1 Gene

Residual Variation Intolerance Score: 50.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.34; 26.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PFKFB1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFKFB1 Gene

Disorders for PFKFB1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PFKFB1 Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
hepatocellular carcinoma
  • hcc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PFKFB1

Genetic Association Database
Human Genome Epidemiology Navigator
Tumor Gene Database
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PFKFB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PFKFB1 Gene

Publications for PFKFB1 Gene

  1. Localization of human liver 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB1) within a YAC contig in Xp11.21. (PMID: 9119406) Batra RS … Craig IW (Genomics 1997) 2 3 23 58
  2. Perioperative genomic profiles using structure-specific oligonucleotide probes. (PMID: 19474452) Hogan KJ … Domanico MJ (Clinical medicine & research 2009) 3 45 58
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Tissue-specific structure/function differentiation of the liver isoform of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase. (PMID: 12379646) Lee YH … Hasemann CA (The Journal of biological chemistry 2003) 3 4 58

Products for PFKFB1 Gene

  • Boster Bio Antibodies for PFKFB1
  • Boster Bio ELISA Kits for PFKFB1

Sources for PFKFB1 Gene

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