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Aliases for PFKFB2 Gene

Aliases for PFKFB2 Gene

  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 2 2 3 5
  • 6PF-2-K/Fru-2,6-P2ase 2 3 4
  • PFK/FBPase 2 3 4
  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 2 3
  • Fructose-2,6-Bisphosphatase, Cardiac Isozyme 3
  • 6PF-2-K/Fru-2,6-P2ASE Heart-Type Isozyme 3
  • 6PF-2-K/Fru-2,6-P2ase Heart-Type Isozyme 4
  • PFKFB, Cardiac 3
  • PFK-2/FBPase-2 3

External Ids for PFKFB2 Gene

Previous GeneCards Identifiers for PFKFB2 Gene

  • GC01P205886
  • GC01P202936
  • GC01P203870
  • GC01P204310
  • GC01P203616
  • GC01P205293
  • GC01P207226
  • GC01P177923

Summaries for PFKFB2 Gene

Entrez Gene Summary for PFKFB2 Gene

  • The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PFKFB2 Gene

PFKFB2 (6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 2) is a Protein Coding gene. Among its related pathways are AMPK Enzyme Complex Pathway and Glycosaminoglycan metabolism. GO annotations related to this gene include protein kinase binding and 6-phosphofructo-2-kinase activity. An important paralog of this gene is PFKFB3.

UniProtKB/Swiss-Prot for PFKFB2 Gene

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

Gene Wiki entry for PFKFB2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PFKFB2 Gene

Genomics for PFKFB2 Gene

Regulatory Elements for PFKFB2 Gene

Enhancers for PFKFB2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G207077 1.4 Ensembl ENCODE dbSUPER 25.8 +43.6 43635 0.4 ATF1 TBL1XR1 ARNT SIN3A ARID4B ZNF2 RAD21 CHAMP1 RFX5 YY1 PFKFB2 CR1 C4BPA FCAMR PIGR C4BPB YOD1
GH01G207070 1.1 Ensembl ENCODE 27.1 +36.9 36904 1.7 HDAC1 LEF1 ATF1 PKNOX1 ZFP64 TAL1 FOSL1 TCF12 FOXK2 ZSCAN29 PFKFB2 C1orf116 FCAMR PIGR C4BPA IL20 YOD1 C4BPB
GH01G207017 2 FANTOM5 Ensembl ENCODE dbSUPER 9.3 -7.7 -7698 18.4 CREB3L1 MLX YBX1 SP3 NFYC MEF2D NBN NR2C1 KDM1A WT1 C4BPA C4BPB FCAMR PIGR FCMR IL20 PFKFB2 C1orf116 GC01P207018
GH01G207084 1.5 Ensembl ENCODE dbSUPER 10.5 +50.5 50505 1.2 PKNOX1 ATF1 FOXA2 CREB3L1 ARNT ARID4B TCF12 ZNF766 CBX5 GATA2 CR1 PFKFB2 C4BPB YOD1
GH01G207048 1.7 Ensembl ENCODE dbSUPER 9 +18.6 18578 9.7 CREB3L1 AGO1 ZFP64 DMAP1 YBX1 YY1 ZNF143 ZNF548 SP3 NFYC CDCA4P4 MAPKAPK2 C1orf116 CR1 RPL7AP20 PFKFB2 YOD1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PFKFB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PFKFB2 Gene

Chromosome:
1
Start:
207,034,366 bp from pter
End:
207,081,024 bp from pter
Size:
46,659 bases
Orientation:
Plus strand

Genomic View for PFKFB2 Gene

Genes around PFKFB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFKFB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFKFB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PFKFB2 Gene

Proteins for PFKFB2 Gene

  • Protein details for PFKFB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60825-F262_HUMAN
    Recommended name:
    6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2
    Protein Accession:
    O60825
    Secondary Accessions:
    • O60824
    • Q5VVQ3
    • Q5VVQ4
    • Q9H3P1

    Protein attributes for PFKFB2 Gene

    Size:
    505 amino acids
    Molecular mass:
    58477 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PFKFB2 Gene

    Alternative splice isoforms for PFKFB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PFKFB2 Gene

Post-translational modifications for PFKFB2 Gene

Other Protein References for PFKFB2 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PFKFB2 (PFKFB2)
  • Abcam antibodies for PFKFB2

No data available for DME Specific Peptides for PFKFB2 Gene

Domains & Families for PFKFB2 Gene

Graphical View of Domain Structure for InterPro Entry

O60825

UniProtKB/Swiss-Prot:

F262_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 PFKFB2: view

Function for PFKFB2 Gene

Molecular function for PFKFB2 Gene

GENATLAS Biochemistry:
fructose 2,6-P2 synthesis and degradation,bifunctional enzyme,expressed in heart
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:
Phosphorylation results in the activation of the kinase activity.
UniProtKB/Swiss-Prot Function:
Synthesis and degradation of fructose 2,6-bisphosphate.

Gene Ontology (GO) - Molecular Function for PFKFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0003873 6-phosphofructo-2-kinase activity TAS,IDA 11069105
GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity IEA --
GO:0005515 protein binding IPI 8387495
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with PFKFB2: view
genes like me logo Genes that share phenotypes with PFKFB2: view

Animal Models for PFKFB2 Gene

MGI Knock Outs for PFKFB2:

Animal Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PFKFB2 Gene

Localization for PFKFB2 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 PFKFB2 gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PFKFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PFKFB2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PFKFB2 Gene

Pathways & Interactions for PFKFB2 Gene

genes like me logo Genes that share pathways with PFKFB2: view

Pathways by source for PFKFB2 Gene

1 Cell Signaling Technology pathway for PFKFB2 Gene
1 BioSystems pathway for PFKFB2 Gene

SIGNOR curated interactions for PFKFB2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PFKFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006000 fructose metabolic process IEA,TAS --
GO:0006003 fructose 2,6-bisphosphate metabolic process IEA --
GO:0006007 glucose catabolic process IEA --
GO:0006089 lactate metabolic process IEA --
GO:0006090 pyruvate metabolic process IEA --
genes like me logo Genes that share ontologies with PFKFB2: view

Drugs & Compounds for PFKFB2 Gene

(3) Drugs for PFKFB2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

(6) Additional Compounds for PFKFB2 Gene - From: HMDB

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 PFKFB2: view

Transcripts for PFKFB2 Gene

Unigene Clusters for PFKFB2 Gene

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

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PFKFB2 Gene

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

Relevant External Links for PFKFB2 Gene

GeneLoc Exon Structure for
PFKFB2
ECgene alternative splicing isoforms for
PFKFB2

Expression for PFKFB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PFKFB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PFKFB2 Gene

This gene is overexpressed in Whole Blood (x7.6) and Muscle - Skeletal (x4.2).

Protein differential expression in normal tissues from HIPED for PFKFB2 Gene

This gene is overexpressed in Islet of Langerhans (7.9), Heart (7.3), and Retina (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PFKFB2 Gene



Protein tissue co-expression partners for PFKFB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of PFKFB2 Gene:

PFKFB2

SOURCE GeneReport for Unigene cluster for PFKFB2 Gene:

Hs.282702

mRNA Expression by UniProt/SwissProt for PFKFB2 Gene:

O60825-F262_HUMAN
Tissue specificity: Heart.

Evidence on tissue expression from TISSUES for PFKFB2 Gene

  • Nervous system(4.7)
  • Heart(4.5)
  • Liver(4.4)
  • Muscle(2.2)
genes like me logo Genes that share expression patterns with PFKFB2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PFKFB2 Gene

Orthologs for PFKFB2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PFKFB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PFKFB2 34 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia PFKFB2 34 35
  • 92.54 (n)
cow
(Bos Taurus)
Mammalia PFKFB2 34 35
  • 91.14 (n)
mouse
(Mus musculus)
Mammalia Pfkfb2 34 16 35
  • 89.8 (n)
oppossum
(Monodelphis domestica)
Mammalia PFKFB2 35
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PFKFB2 35
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkfb2 34
  • 88.43 (n)
chicken
(Gallus gallus)
Aves PFKFB2 34 35
  • 78.3 (n)
lizard
(Anolis carolinensis)
Reptilia PFKFB2 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfkfb2 34
  • 73.55 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC564852 34
  • 73.22 (n)
pfkfb2a 35
  • 72 (a)
OneToMany
pfkfb2b 35
  • 72 (a)
OneToMany
-- 34
fruit fly
(Drosophila melanogaster)
Insecta Pfrx 35
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y110A7A.6a 36
  • 55 (a)
Y110A7A.6b 36
  • 55 (a)
Y110A7A.6 35
  • 54 (a)
ManyToMany
K02B2.1 36 35
  • 49 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL106W 34
  • 55.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B07513g 34
  • 53.89 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FBP26 34 35
  • 51.75 (n)
rice
(Oryza sativa)
Liliopsida Os03g0294200 34
  • 52.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09347 34
  • 54.9 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB17E12.14c 34
  • 50.71 (n)
Species where no ortholog for PFKFB2 was found in the sources mined by GeneCards:
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PFKFB2 Gene

ENSEMBL:
Gene Tree for PFKFB2 (if available)
TreeFam:
Gene Tree for PFKFB2 (if available)

Paralogs for PFKFB2 Gene

Paralogs for PFKFB2 Gene

(4) SIMAP similar genes for PFKFB2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PFKFB2: view

Variants for PFKFB2 Gene

Sequence variations from dbSNP and Humsavar for PFKFB2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000066312 -- 207,068,489(+) CAGGG(G/T)TTTCC intron-variant
rs1000122185 -- 207,075,956(+) TTACA(C/G/T)TGAGT intron-variant, utr-variant-3-prime
rs1000226657 -- 207,075,298(+) TTATC(C/T)TCAGA intron-variant, utr-variant-3-prime
rs1000360107 -- 207,078,700(+) TTATG(A/G)TCCAG intron-variant
rs1000492603 -- 207,075,572(+) GTACT(C/G)TCTGC intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PFKFB2 Gene

Variant ID Type Subtype PubMed ID
nsv475618 CNV novel sequence insertion 20440878
nsv526699 CNV loss 19592680
nsv832426 CNV gain 17160897

Variation tolerance for PFKFB2 Gene

Residual Variation Intolerance Score: 36.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.06; 21.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PFKFB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFKFB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFKFB2 Gene

Disorders for PFKFB2 Gene

Relevant External Links for PFKFB2

Genetic Association Database (GAD)
PFKFB2
Human Genome Epidemiology (HuGE) Navigator
PFKFB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PFKFB2

No disorders were found for PFKFB2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PFKFB2 Gene

Publications for PFKFB2 Gene

  1. Sequence and structure of the human 6-phosphofructo-2- kinase/fructose-2,6-bisphosphatase heart isoform gene (PFKFB2). (PMID: 9652401) Heine-Suner D. … Rodriguez de Cordoba S. (Eur. J. Biochem. 1998) 3 4 22 64
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P. … Inskip P.D. (Cancer Epidemiol. Biomarkers Prev. 2010) 3 46 64
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S. … Kang D. (Hum. Immunol. 2010) 3 46 64
  4. A role for PFK-2/FBPase-2, as distinct from fructose 2,6-bisphosphate, in regulation of insulin secretion in pancreatic beta-cells. (PMID: 18039179) Arden C. … Agius L. (Biochem. J. 2008) 3 22 64
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64

Products for PFKFB2 Gene

Sources for PFKFB2 Gene

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