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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
  • PFK-2/FBPase-2 3
  • PFKFB, Cardiac 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 Akt Signaling and AMP-activated Protein Kinase (AMPK) Signaling. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PFKFB2 Gene

Promoters and enhancers for PFKFB2 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
GH01J207048 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 659 +18.6 18577 9.7 CLOCK ZFP64 DMAP1 YBX1 YY1 ZNF213 E2F8 ZNF143 ZNF548 SP3 PFKFB2 YOD1 EIF2D CDCA4P4 MAPKAPK2 C1orf116 CR1 RPL7AP20 CD46
GH01J207036 Enhancer 0.5 dbSUPER 650.7 +1.8 1840 0.4 GTF2E2 BACH1 PRDM10 ZNF592 PFKFB2 YOD1
GH01J207077 Enhancer 1.3 Ensembl ENCODE dbSUPER 25.8 +43.6 43635 0.4 ATF1 ARNT ARID4B ZNF2 RAD21 RFX5 YY1 CHAMP1 ARID2 ZNF143 PFKFB2 CR1 C4BPA FCAMR PIGR C4BPB YOD1
GH01J207017 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.3 -7.7 -7698 18.4 HDGF HNRNPUL1 PKNOX1 CLOCK SMAD1 FOXA2 ARNT ARID4B NEUROD1 SIN3A C1orf116 EIF2D C4BPA CDCA4P4 C4BPB FCAMR PIGR FCMR RPL7AP20 IL20
GH01J207084 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.5 +50.5 50505 1.2 PKNOX1 ATF1 FOXA2 ARNT ARID4B TCF12 ZNF766 CBX5 ARID2 ATF7 CR1 PFKFB2 C4BPB YOD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PFKFB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PFKFB2 gene promoter:
  • E2F-1
  • HTF
  • E2F
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HSF2
  • Nkx2-5
  • Msx-1

Genomic Locations for PFKFB2 Gene

Genomic Locations for PFKFB2 Gene
chr1:207,034,366-207,081,024
(GRCh38/hg38)
Size:
46,659 bases
Orientation:
Plus strand
chr1:207,222,801-207,254,369
(GRCh37/hg19)
Size:
31,569 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

No data available for DME Specific Peptides for PFKFB2 Gene

Domains & Families for PFKFB2 Gene

Gene 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

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

Phenotypes From GWAS Catalog for PFKFB2 Gene

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 IDA,TAS 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:
  • Pfkfb2 Pfkfb2<tm1b(KOMP)Wtsi>

Animal Model Products

Clone 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

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PFKFB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
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

2 Qiagen pathways for PFKFB2 Gene
1 Cell Signaling Technology 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 TAS,IEA --
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
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0

(6) Additional Compounds for PFKFB2 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
2553-59-5
ADP
  • 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
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:

Clone 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, 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(2.3)
genes like me logo Genes that share expression patterns with PFKFB2: view

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 33
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PFKFB2 34 33
  • 92.54 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PFKFB2 34 33
  • 91.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pfkfb2 16 34 33
  • 89.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PFKFB2 34
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PFKFB2 34
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pfkfb2 33
  • 88.43 (n)
chicken
(Gallus gallus)
Aves PFKFB2 34 33
  • 78.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PFKFB2 34
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pfkfb2 33
  • 73.55 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC564852 33
  • 73.22 (n)
pfkfb2a 34
  • 72 (a)
OneToMany
pfkfb2b 34
  • 72 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Pfrx 34
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y110A7A.6b 35
  • 55 (a)
Y110A7A.6a 35
  • 55 (a)
Y110A7A.6 34
  • 54 (a)
ManyToMany
K02B2.1 34 35
  • 49 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL106W 33
  • 55.56 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B07513g 33
  • 53.89 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FBP26 34 33
  • 51.75 (n)
OneToMany
rice
(Oryza sativa)
Liliopsida Os03g0294200 33
  • 52.43 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
OneToMany
bread mold
(Neurospora crassa)
Ascomycetes NCU09347 33
  • 54.9 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB17E12.14c 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PFKFB2: view image

Paralogs for PFKFB2 Gene

Paralogs for PFKFB2 Gene

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

  • F262_HUMAN
  • B0FLL2_HUMAN
  • B4DI16_HUMAN
  • B4DY91_HUMAN
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 Variation AA Info Type
rs1000066312 -- 207,068,489(+) G/T intron_variant
rs1000122185 -- 207,075,956(+) T/C/G 3_prime_UTR_variant, intron_variant
rs1000226657 -- 207,075,298(+) C/T 3_prime_UTR_variant, intron_variant
rs1000360107 -- 207,078,700(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000492603 -- 207,075,572(+) C/G 3_prime_UTR_variant, intron_variant

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)

Additional Variant Information 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

Additional Disease Information for PFKFB2

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

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-Suñer D … Rodríguez de Córdoba S (European journal of biochemistry 1998) 3 4 22 58
  2. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
  3. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  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 (The Biochemical journal 2008) 3 22 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58

Products for PFKFB2 Gene

Sources for PFKFB2 Gene

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