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Aliases for PFKFB4 Gene

Aliases for PFKFB4 Gene

  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 4 2 3 5
  • 6PF-2-K/Fru-2,6-P2ase Testis-Type Isozyme 4
  • 6PF-2-K/Fru-2,6-P2ase 4 4
  • PFK/FBPase 4 4

External Ids for PFKFB4 Gene

Previous GeneCards Identifiers for PFKFB4 Gene

  • GC03M048349
  • GC03M047841
  • GC03M048516
  • GC03M048530
  • GC03M048555

Summaries for PFKFB4 Gene

Entrez Gene Summary for PFKFB4 Gene

  • The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]

GeneCards Summary for PFKFB4 Gene

PFKFB4 (6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 4) is a Protein Coding gene. Among its related pathways are Glucose metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include 6-phosphofructo-2-kinase activity and fructose-2,6-bisphosphate 2-phosphatase activity. An important paralog of this gene is PFKFB1.

UniProtKB/Swiss-Prot for PFKFB4 Gene

  • Synthesis and degradation of fructose 2,6-bisphosphate.

Gene Wiki entry for PFKFB4 Gene

Additional gene information for PFKFB4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFKFB4 Gene

Genomics for PFKFB4 Gene

GeneHancer (GH) Regulatory Elements for PFKFB4 Gene

Promoters and enhancers for PFKFB4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I048551 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 551.9 +3.5 3504 15.4 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B PFKFB4 UCN2 TMA7 NME6 QRICH1 ATRIP USP19 ZNF589 WDR6 TMEM89
GH03I048464 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.6 +92.7 92685 11.4 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SHISA5 TREX1 TMA7 ATRIP NME6 QRICH1 USP19 MRPS18AP1 TMEM89 RHOA-IT1
GH03I048632 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 11.5 -72.3 -72255 4.1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 IRF4 ZNF207 ZNF143 FOS MIR6824 SLC26A6 WDR6 COL7A1 PFKFB4 UCN2 CELSR3
GH03I048693 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 10.4 -132.1 -132071 2.6 KLF1 MAX ZNF76 FEZF1 YY1 ZNF335 ZFHX2 POLR2A ZBTB48 EGR1 IP6K2 WDR6 COL7A1 PFKFB4 UCN2 PRKAR2A PRKAR2A-AS1 QRICH1 QARS NCKIPSD
GH03I048186 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 7.1 +374.9 374859 2.6 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 E2F8 ZNF143 FOS CDC25A ZNF589 QRICH1 ATRIP USP19 TMEM89 CCDC71 PTPN23 NME6 MRPS18AP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PFKFB4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PFKFB4 gene promoter:

Genomic Locations for PFKFB4 Gene

Genomic Locations for PFKFB4 Gene
chr3:48,517,684-48,562,774
(GRCh38/hg38)
Size:
45,091 bases
Orientation:
Minus strand
chr3:48,555,117-48,599,448
(GRCh37/hg19)

Genomic View for PFKFB4 Gene

Genes around PFKFB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFKFB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFKFB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFKFB4 Gene

Proteins for PFKFB4 Gene

  • Protein details for PFKFB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16877-F264_HUMAN
    Recommended name:
    6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4
    Protein Accession:
    Q16877
    Secondary Accessions:
    • Q5S3G5
    • Q5XLC2
    • Q64EX5

    Protein attributes for PFKFB4 Gene

    Size:
    469 amino acids
    Molecular mass:
    54040 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for PFKFB4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PFKFB4 Gene

Post-translational modifications for PFKFB4 Gene

No Post-translational modifications

No data available for DME Specific Peptides for PFKFB4 Gene

Domains & Families for PFKFB4 Gene

Gene Families for PFKFB4 Gene

Graphical View of Domain Structure for InterPro Entry

Q16877

UniProtKB/Swiss-Prot:

F264_HUMAN :
  • In the C-terminal section; belongs to the phosphoglycerate mutase family.
Family:
  • In the C-terminal section; belongs to the phosphoglycerate mutase family.
genes like me logo Genes that share domains with PFKFB4: view

Function for PFKFB4 Gene

Molecular function for PFKFB4 Gene

GENATLAS Biochemistry:
6-phosphofructo-2-kinase-fructose-2,6-biphosphatase bifunctional enzyme responsible for the synthesis and breakdown of fructose 2,6 biphosphate,key metabolite in the regulation of glycolysis,expressed in testis
UniProtKB/Swiss-Prot CatalyticActivity:
Beta-D-fructose 2,6-bisphosphate + H(2)O = D-fructose 6-phosphate + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + D-fructose 6-phosphate = ADP + beta-D-fructose 2,6-bisphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
The most important regulatory mechanism of these opposing activities is by phosphorylation and dephosphorylation of the enzyme.
UniProtKB/Swiss-Prot Function:
Synthesis and degradation of fructose 2,6-bisphosphate.

Phenotypes From GWAS Catalog for PFKFB4 Gene

Gene Ontology (GO) - Molecular Function for PFKFB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003873 6-phosphofructo-2-kinase activity IEA,NAS 10095107
GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with PFKFB4: view
genes like me logo Genes that share phenotypes with PFKFB4: view

Animal Models for PFKFB4 Gene

MGI Knock Outs for PFKFB4:

miRNA for PFKFB4 Gene

miRTarBase miRNAs that target PFKFB4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PFKFB4 Gene

Localization for PFKFB4 Gene

Subcellular locations from

COMPARTMENTS
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 PFKFB4 gene
Compartment Confidence
cytosol 5
mitochondrion 3
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PFKFB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PFKFB4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PFKFB4 Gene

Pathways & Interactions for PFKFB4 Gene

genes like me logo Genes that share pathways with PFKFB4: view

Pathways by source for PFKFB4 Gene

1 BioSystems pathway for PFKFB4 Gene
2 Qiagen pathways for PFKFB4 Gene

Gene Ontology (GO) - Biological Process for PFKFB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006000 fructose metabolic process IEA --
GO:0006003 fructose 2,6-bisphosphate metabolic process IEA --
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with PFKFB4: view

No data available for SIGNOR curated interactions for PFKFB4 Gene

Drugs & Compounds for PFKFB4 Gene

(6) Drugs for PFKFB4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
fructose-6-phosphate Experimental Pharma Target 0
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
ATP Investigational Nutra Agonist 0

(8) Additional Compounds for PFKFB4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Phosphoglyceric acid
  • 2-(Dihydrogen phosphate)Glycerate
  • 2-(Dihydrogen phosphate)Glyceric acid
  • 2-P-D-Glycerate
  • 2-P-D-Glyceric acid
  • 2-P-Glycerate
2553-59-5
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
Beta-D-Fructose 6-phosphate
  • beta-D-Fructose 6-phosphate
D-Fructose 2,6-bisphosphate
  • b-D-Fructose 2,6-bisphosphate
  • beta-D-Fructose 2,6-bisphosphate
  • D-Fructose 2,6-bisphosphate
  • Fru 2,6-P2, Fructose 2,6-diphosphate
  • Fructose 2,6-bisphosphate
Fructose 6-phosphate
  • D-Fructose 6-phosphate
  • D-Fructose 6-phosphorate
  • D-Fructose 6-phosphoric acid
  • D-Fructose-6-P
  • D-Fructose-6-phosphate
643-13-0
genes like me logo Genes that share compounds with PFKFB4: view

Transcripts for PFKFB4 Gene

mRNA/cDNA for PFKFB4 Gene

(11) REFSEQ mRNAs :
(11) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PFKFB4 Gene

6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PFKFB4 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - - -
SP3: - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - -
SP7: - - - -
SP8: - - -
SP9: - - - - - -
SP10:

Relevant External Links for PFKFB4 Gene

GeneLoc Exon Structure for
PFKFB4
ECgene alternative splicing isoforms for
PFKFB4

Expression for PFKFB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PFKFB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PFKFB4 Gene

This gene is overexpressed in Whole Blood (x18.1).

Protein differential expression in normal tissues from HIPED for PFKFB4 Gene

This gene is overexpressed in Testis (37.3) and Ovary (23.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PFKFB4 Gene



Protein tissue co-expression partners for PFKFB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of PFKFB4 Gene:

PFKFB4

SOURCE GeneReport for Unigene cluster for PFKFB4 Gene:

Hs.476217

Evidence on tissue expression from TISSUES for PFKFB4 Gene

  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with PFKFB4: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFKFB4 Gene

Orthologs for PFKFB4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PFKFB4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFKFB4 33 34
  • 99.72 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PFKFB4 34
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PFKFB4 33 34
  • 92.4 (n)
cow
(Bos Taurus)
Mammalia PFKFB4 33 34
  • 92.11 (n)
mouse
(Mus musculus)
Mammalia Pfkfb4 33 16 34
  • 89.2 (n)
rat
(Rattus norvegicus)
Mammalia Pfkfb4 33
  • 89.05 (n)
oppossum
(Monodelphis domestica)
Mammalia PFKFB4 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves PFKFB4 34
  • 90 (a)
OneToOne
LOC100859653 33
  • 77.35 (n)
lizard
(Anolis carolinensis)
Reptilia PFKFB4 34
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfkfb4 33
  • 73.89 (n)
zebrafish
(Danio rerio)
Actinopterygii pfkfb4 33 34
  • 79 (a)
pfkfb4l 33 34
  • 74.79 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pfrx 34
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y110A7A.6b 35
  • 56 (a)
Y110A7A.6a 35
  • 55 (a)
Y110A7A.6 34
  • 53 (a)
ManyToMany
K02B2.1 35 34
  • 51 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FBP26 34
  • 46 (a)
OneToMany
-- 36
thale cress
(Arabidopsis thaliana)
eudicotyledons F2KP 33
  • 52.36 (n)
rice
(Oryza sativa)
Liliopsida Os05g0164100 33
  • 53.51 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 63 (a)
OneToMany
Species where no ortholog for PFKFB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PFKFB4 Gene

ENSEMBL:
Gene Tree for PFKFB4 (if available)
TreeFam:
Gene Tree for PFKFB4 (if available)

Paralogs for PFKFB4 Gene

Paralogs for PFKFB4 Gene

genes like me logo Genes that share paralogs with PFKFB4: view

Variants for PFKFB4 Gene

Sequence variations from dbSNP and Humsavar for PFKFB4 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs377441767 uncertain-significance, Dystrophic epidermolysis bullosa 48,564,301(-) G/A upstream_transcript_variant
rs74780677 uncertain-significance, Dystrophic epidermolysis bullosa 48,564,341(-) A/G upstream_transcript_variant
rs939392110 uncertain-significance, Dystrophic epidermolysis bullosa 48,564,366(-) T/A/G upstream_transcript_variant
VAR_036075 A breast cancer sample p.Asn181Lys
rs1000003120 -- 48,551,728(-) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PFKFB4 Gene

Variant ID Type Subtype PubMed ID
nsv954484 CNV deletion 24416366
nsv834685 CNV loss 17160897
nsv834684 CNV gain 17160897
nsv590242 CNV loss 21841781
nsv523981 CNV loss 19592680
nsv1004383 CNV loss 25217958

Variation tolerance for PFKFB4 Gene

Residual Variation Intolerance Score: 9.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.49; 29.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PFKFB4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFKFB4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFKFB4 Gene

Disorders for PFKFB4 Gene

Additional Disease Information for PFKFB4

No disorders were found for PFKFB4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PFKFB4 Gene

Publications for PFKFB4 Gene

  1. Cloning, expression and chromosomal localization of a human testis 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase gene. (PMID: 10095107) Manzano A … Bartrons R (Gene 1999) 2 3 4 22 58
  2. Specific expression of pfkfb4 gene in spermatogonia germ cells and analysis of its 5'-flanking region. (PMID: 15642344) Gómez M … Bartrons R (FEBS letters 2005) 3 4 22 58
  3. Hypoxia induces transcription of 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase-4 gene via hypoxia-inducible factor-1alpha activation. (PMID: 15474002) Minchenko O … Esumi H (FEBS letters 2004) 3 4 22 58
  4. Cloning of cDNA encoding for a novel isozyme of fructose 6-phosphate, 2-kinase/fructose 2,6-bisphosphatase from human placenta. (PMID: 8830046) Sakai A … Sakakibara R (Journal of biochemistry 1996) 2 3 4 58
  5. Fructose-2,6-bisphosphate synthesis by 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 (PFKFB4) is required for the glycolytic response to hypoxia and tumor growth. (PMID: 25115398) Chesney J … Telang S (Oncotarget 2014) 2 3 58

Products for PFKFB4 Gene

Sources for PFKFB4 Gene

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