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. Co... See more...

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
  • F6PK 3 4
  • PFRX 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
  • PFKFB1 5
  • 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
  • GC0XM054976
  • 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 Glucose metabolism and Glycosaminoglycan 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 Summary for PFKFB1 Gene

Gene Wiki entry for PFKFB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PFKFB1 Gene

Genomics for PFKFB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 CraniofacialAtlas dbSUPER 250.7 -0.5 -549 3.2 TBP NR2C1 MNT IKZF1 SMAD5 POLR2A ELF1 THAP11 ELK1 GABPA APEX2 HSALNG0138104 PFKFB1 PHF8 HSALNG0138105 lnc-ALAS2-2 PAGE2B
GH0XJ054998 Promoter 0.3 EPDnew 250.7 +1.2 1243 0.1 APEX2 HSALNG0138104 PFKFB1 HSALNG0138103 TRO
GH0XJ055000 Promoter 0.3 EPDnew 250.7 +1.5 1485 0.1 APEX2 HSALNG0138104 PFKFB1 HSALNG0138103 TRO
GH0XJ054993 Enhancer 0.9 Ensembl ENCODE 0.4 +5.0 5002 2.3 FOXA2 MAFF SMAD4 RXRA RARA JUND ZNF316 MAFK HNF4A FOXA1 HSALNG0138103 HSALNG0138104 PFKFB1 TRO
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PFKFB1

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

Latest Assembly
67,092 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
65,829 bases
Minus strand

(GRCh37/hg19 by Ensembl)
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

Protein Domains for PFKFB1 Gene

  • Phosphoglycerate/bisphosphoglycerate mutase
  • 6-phosphofructo-2-kinase

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)

Phenotypes From GWAS Catalog for PFKFB1 Gene

Gene Ontology (GO) - Molecular Function for PFKFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
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
genes like me logo Genes that share ontologies with PFKFB1: view
genes like me logo Genes that share phenotypes with PFKFB1: view

Animal Models for PFKFB1 Gene

MGI Knock Outs for PFKFB1:
  • Pfkfb1 Pfkfb1<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

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

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 2
mitochondrion 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

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 IBA,IDA 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

2 Qiagen pathways for PFKFB1 Gene
  • Akt Signaling
  • AMPK Enzyme Complex Pathway

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
Water Approved Pharma 0
Fructose 6-phosphate Experimental Pharma Target 0
Adenosine 5'-[gamma-thio]triphosphate Experimental Pharma Target 0
D-Gluco-2,5-Anhydro-1-Deoxy-1-Phosphonohexitol-6-Phosphate Experimental Pharma Target 0

(4) 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
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
  • FRUCTOSE-6-phosphoric acid
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
genes like me logo Genes that share compounds with PFKFB1: view

Transcripts for PFKFB1 Gene

mRNA/cDNA for PFKFB1 Gene

11 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for PFKFB1 Gene

GeneLoc Exon Structure for

Expression for PFKFB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PFKFB1

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(2.8)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with PFKFB1: view

Primer products for research

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 31
  • 100 (a)
(Monodelphis domestica)
Mammalia PFKFB1 31
  • 94 (a)
(Canis familiaris)
Mammalia PFKFB1 30 31
  • 93.06 (n)
(Bos Taurus)
Mammalia PFKFB1 30 31
  • 92.71 (n)
(Mus musculus)
Mammalia Pfkfb1 30 17 31
  • 91.03 (n)
(Ornithorhynchus anatinus)
Mammalia PFKFB1 31
  • 91 (a)
(Rattus norvegicus)
Mammalia Pfkfb1 30
  • 90.59 (n)
(Gallus gallus)
Aves PFKFB1 31
  • 76 (a)
  • 74.01 (n)
(Anolis carolinensis)
Reptilia PFKFB1 31
  • 77 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488795 30
  • 76.33 (n)
Str.5860 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15996 30
(Danio rerio)
Actinopterygii PFKFB1 (2 of 2) 31
  • 82 (a)
pfkfb1 31
  • 79 (a)
LOC100330415 30
  • 72.94 (n)
wufi11h10 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8022 30
Fruit Fly
(Drosophila melanogaster)
Insecta Pfrx 31
  • 39 (a)
(Caenorhabditis elegans)
Secernentea Y110A7A.6b 32
  • 55 (a)
Y110A7A.6a 32
  • 54 (a)
Y110A7A.6 31
  • 53 (a)
K02B2.1 31 32
  • 49 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FBP26 31 33
  • 45 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.11319 30
(Hordeum vulgare)
Liliopsida Hv.5420 30
(Triticum aestivum)
Liliopsida Ta.11134 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 64 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3444 30
Species where no ortholog for PFKFB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PFKFB1 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs373155935 Likely Benign: not specified 54,937,730(-) C/A

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PFKFB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

SNP Genotyping and Copy Number Assays for research

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: LNC and COP

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 Family of Databases
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. Perioperative genomic profiles using structure-specific oligonucleotide probes. (PMID: 19474452) Hogan KJ … Domanico MJ (Clinical medicine & research 2009) 3 41
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4
  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
  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

Products for PFKFB1 Gene

Sources for PFKFB1 Gene