PFKFB3 Gene (Protein Coding)

6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 3

GC10P006144
GIFtS:
46
The protein encoded by this gene belongs to a family of bifunctional proteins that are 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 (F2,6BP), and a fructose-2,6-biphosp... See more...

Aliases for PFKFB3 Gene

Aliases for PFKFB3 Gene

  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 3 2 3 5
  • 6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 3 3 4
  • 6PF-2-K/Fru-2,6-P2ase Brain/Placenta-Type Isozyme 3 4
  • Renal Carcinoma Antigen NY-REN-56 3 4
  • 6PF-2-K/Fru-2,6-P2ase 3 3 4
  • PFK/FBPase 3 3 4
  • IPFK-2 3 4
  • Inducible 6-Phosphofructo-2-Kinase/Fructose-2,6-Bisphosphatase 3
  • Fructose-6-Phosphate,2-Kinase/Fructose-2, 6-Bisphosphatase 3
  • 6-Phosphofructo-2-Kinase/ Fructose-2,6-Bisphosphatase 3
  • PFKFB3 5
  • IPFK2 3
  • PFK2 3

External Ids for PFKFB3 Gene

Previous GeneCards Identifiers for PFKFB3 Gene

  • GC10P006189
  • GC10P006395
  • GC10P006248
  • GC10P006226
  • GC10P006284
  • GC10P006186

Summaries for PFKFB3 Gene

Entrez Gene Summary for PFKFB3 Gene

  • The protein encoded by this gene belongs to a family of bifunctional proteins that are 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 (F2,6BP), and a fructose-2,6-biphosphatase activity that catalyzes the degradation of F2,6BP. This protein is required for cell cycle progression and prevention of apoptosis. It functions as a regulator of cyclin-dependent kinase 1, linking glucose metabolism to cell proliferation and survival in tumor cells. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2016]

GeneCards Summary for PFKFB3 Gene

PFKFB3 (6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 3) is a Protein Coding gene. Diseases associated with PFKFB3 include Colon Adenocarcinoma and Schizophrenia. Among its related pathways are HIF-1-alpha transcription factor network 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 PFKFB2.

UniProtKB/Swiss-Prot Summary for PFKFB3 Gene

Gene Wiki entry for PFKFB3 Gene

Additional gene information for PFKFB3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PFKFB3 Gene

Genomics for PFKFB3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PFKFB3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PFKFB3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PFKFB3

Top Transcription factor binding sites by QIAGEN in the PFKFB3 gene promoter:
  • Arnt
  • c-Ets-1
  • CREB
  • deltaCREB
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • USF-1
  • USF-1:USF-2
  • USF1

Genomic Locations for PFKFB3 Gene

Latest Assembly
chr10:6,144,918-6,254,648
(GRCh38/hg38)
Size:
109,731 bases
Orientation:
Plus strand

Previous Assembly
chr10:6,186,884-6,296,611
(GRCh37/hg19 by Entrez Gene)
Size:
109,728 bases
Orientation:
Plus strand

chr10:6,186,881-6,277,495
(GRCh37/hg19 by Ensembl)
Size:
90,615 bases
Orientation:
Plus strand

Genomic View for PFKFB3 Gene

Genes around PFKFB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PFKFB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PFKFB3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for PFKFB3 Gene

Proteins for PFKFB3 Gene

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  • Protein details for PFKFB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16875-F263_HUMAN
    Recommended name:
    6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3
    Protein Accession:
    Q16875
    Secondary Accessions:
    • B7Z955
    • O43622
    • O75902
    • Q5VX15
    • Q5VX18
    • Q5VX19

    Protein attributes for PFKFB3 Gene

    Size:
    520 amino acids
    Molecular mass:
    59609 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PFKFB3 Gene

    Alternative splice isoforms for PFKFB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PFKFB3 Gene

Protein Expression for PFKFB3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PFKFB3 Gene

Other Protein References for PFKFB3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PFKFB3 Gene

Domains & Families for PFKFB3 Gene

Gene Families for PFKFB3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for PFKFB3 Gene

InterPro:
Blocks:
  • Phosphoglycerate/bisphosphoglycerate mutase
  • 6-phosphofructo-2-kinase
ProtoNet:

Suggested Antigen Peptide Sequences for PFKFB3 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54731, highly similar to 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (B7Z955_HUMAN)
  • iPFK-2 (F263_HUMAN)
  • 6-phosphofructo-2-kinase/fructose-2,6-biphosphata se 3 (Q5VX17_HUMAN)
  • cDNA FLJ75111, highly similar to Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3(PFKFB3), mRNA (Q5VX18_HUMAN)
  • 6-phosphofructo-2-kinase/fructose-2,6-biphosphata se 3 (Q9BQU1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16875

UniProtKB/Swiss-Prot:

F263_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 PFKFB3: view

Function for PFKFB3 Gene

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  6. Cell Lines for research

Molecular function for PFKFB3 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=3.1.3.46;.
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=2.7.1.105;.
GENATLAS Biochemistry:
fructose 2,6-P2 synthesis and degradation,bifunctional enzyme,?,expressed in kidney

Phenotypes From GWAS Catalog for PFKFB3 Gene

Gene Ontology (GO) - Molecular Function for PFKFB3 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,NAS 8830046
GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity IEA,IBA 21873635
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with PFKFB3: view
genes like me logo Genes that share phenotypes with PFKFB3: view

Animal Models for PFKFB3 Gene

MGI Knock Outs for PFKFB3:

Animal Models for research

  • Taconic Biosciences Mouse Models for PFKFB3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PFKFB3

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PFKFB3 Gene

Localization for PFKFB3 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 PFKFB3 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
lysosome 2
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PFKFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PFKFB3: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PFKFB3 Gene

Pathways & Interactions for PFKFB3 Gene

genes like me logo Genes that share pathways with PFKFB3: view

Pathways by source for PFKFB3 Gene

1 Sino Biological pathway for PFKFB3 Gene
2 Qiagen pathways for PFKFB3 Gene
  • Akt Signaling
  • AMPK Enzyme Complex Pathway
1 Cell Signaling Technology pathway for PFKFB3 Gene

SIGNOR curated interactions for PFKFB3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PFKFB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006000 fructose metabolic process IEA --
GO:0006003 fructose 2,6-bisphosphate metabolic process IEA,IBA 21873635
GO:0007420 brain development IEA --
GO:0008152 metabolic process IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with PFKFB3: view

Drugs & Compounds for PFKFB3 Gene

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(12) Drugs for PFKFB3 Gene - From: ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Fructose 6-phosphate Experimental Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0
PFK-015 Pharma PFKFB3 inhibitor, potent and selective 0

(13) Additional Compounds for PFKFB3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 58-64-0
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
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
 79082-92-1

(1) ApexBio Compounds for PFKFB3 Gene

Compound Action Cas Number
PFK-015 PFKFB3 inhibitor, potent and selective 4382-63-2
genes like me logo Genes that share compounds with PFKFB3: view

Drug products for research

Transcripts for PFKFB3 Gene

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mRNA/cDNA for PFKFB3 Gene

7 REFSEQ mRNAs :
24 NCBI additional mRNA sequence :
19 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 PFKFB3

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PFKFB3 Gene

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

ExUns: 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b · 19c · 19d
SP1: - -
SP2: - - - -
SP3: - - -
SP4:
SP5: -
SP6: -
SP7:
SP8:
SP9:
SP10:

Relevant External Links for PFKFB3 Gene

GeneLoc Exon Structure for
PFKFB3

Expression for PFKFB3 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PFKFB3 Gene

mRNA expression in normal human tissues for PFKFB3 Gene
mRNA expression by GTEx for PFKFB3 GenemRNA expression by BioGPS for PFKFB3 Gene

mRNA differential expression in normal tissues according to GTEx for PFKFB3 Gene

This gene is overexpressed in Muscle - Skeletal (x10.1), Whole Blood (x5.7), and Adipose - Subcutaneous (x4.4).

Protein differential expression in normal tissues from HIPED for PFKFB3 Gene

This gene is overexpressed in Plasma (18.1), Heart (13.6), Spleen (10.6), and Peripheral blood mononuclear cells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PFKFB3 Gene



Protein tissue co-expression partners for PFKFB3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PFKFB3

SOURCE GeneReport for Unigene cluster for PFKFB3 Gene:

Hs.195471

mRNA Expression by UniProt/SwissProt for PFKFB3 Gene:

Q16875-F263_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for PFKFB3 Gene

  • Nervous system(5)
  • Muscle(4.6)
  • Kidney(2.8)
  • Heart(2.7)
  • Intestine(2.7)
  • Liver(2.7)
  • Bone marrow(2.7)
  • Blood(2.5)
  • Eye(2.4)
  • Lung(2.3)
  • Spleen(2.3)
  • Skin(2.3)
  • Pancreas(2.2)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with PFKFB3: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for PFKFB3 Gene

Orthologs for PFKFB3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PFKFB3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PFKFB3 30 31
  • 99.42 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PFKFB3 30 31
  • 90.92 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PFKFB3 30 31
  • 90.18 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pfkfb3 30
  • 88.54 (n)
Mouse
(Mus musculus)
 Mammalia Pfkfb3 30 17 31
  • 88.34 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia PFKFB3 31
  • 84 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia PFKFB3 31
  • 83 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PFKFB3 30 31
  • 80.26 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PFKFB3 31
  • 86 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pfkfb3 30
  • 71.29 (n)
Zebrafish
(Danio rerio)
 Actinopterygii pfkfb3 30 31
  • 71.41 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Pfrx 31
  • 37 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea Y110A7A.6 30 31
  • 56.25 (n)
 ManyToMany
Y110A7A.6b 32
  • 56 (a)
Y110A7A.6a 32
  • 55 (a)
K02B2.1 31 32
  • 51 (a)
 ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes FBP26 31
  • 44 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 63 (a)
 OneToMany
Species where no ortholog for PFKFB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 PFKFB3 Gene

ENSEMBL:
Gene Tree for PFKFB3 (if available)
TreeFam:
Gene Tree for PFKFB3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PFKFB3: view image

Paralogs for PFKFB3 Gene

Paralogs for PFKFB3 Gene

(138) SIMAP similar genes for PFKFB3 Gene using alignment to 12 proteins:

  • F263_HUMAN
  • B7Z955_HUMAN
  • F2Z2I2_HUMAN
  • F5H5L1_HUMAN
  • H0Y483_HUMAN
  • H0YDV0_HUMAN
  • Q5VX20_HUMAN
  • Q5W015_HUMAN
  • Q9BQU1_HUMAN
  • Q9BQU2_HUMAN
  • Q9BQU3_HUMAN
  • Q9H178_HUMAN
genes like me logo Genes that share paralogs with PFKFB3: view

Variants for PFKFB3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PFKFB3 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs199594802 Likely Benign: not provided 6,223,992(+) C/T
NM_004566.4(PFKFB3):c.1248C>T (p.Thr416=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs34184265 Benign: not provided 6,221,494(+) C/T
NM_004566.4(PFKFB3):c.945C>T (p.Tyr315=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PFKFB3 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 PFKFB3 Gene

Variant ID Type Subtype PubMed ID
dgv124n67 CNV loss 20364138
dgv1e49 CNV loss 18971310
dgv66n27 CNV gain 19166990
dgv88e201 CNV deletion 23290073
dgv949n54 CNV gain 21841781
esv1353057 CNV deletion 17803354
esv2626974 CNV deletion 19546169
esv2731929 CNV deletion 23290073
esv3306994 CNV mobile element insertion 20981092
esv3401171 CNV insertion 20981092
esv3438991 CNV insertion 20981092
esv3545839 CNV deletion 23714750
esv3622241 CNV gain 21293372
esv3622242 CNV gain 21293372
esv3622243 CNV loss 21293372
esv994076 CNV deletion 20482838
nsv1072583 CNV deletion 25765185
nsv1136109 CNV deletion 24896259
nsv24567 CNV deletion 16902084
nsv437094 CNV loss 16327808
nsv437656 CNV loss 16327808
nsv512142 CNV loss 21212237
nsv521145 CNV loss 19592680
nsv525622 CNV gain 19592680
nsv5665 CNV insertion 18451855
nsv7198 OTHER inversion 18451855
nsv825235 CNV loss 20364138
nsv958544 CNV deletion 24416366

Variation tolerance for PFKFB3 Gene

Residual Variation Intolerance Score: 19.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.43; 28.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PFKFB3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PFKFB3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PFKFB3 Gene

Disorders for PFKFB3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for PFKFB3 Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
colon adenocarcinoma
  • adenocarcinoma of colon
schizophrenia
  • sczd
glycogen storage disease
  • glycogenoses
3-methylglutaconic aciduria, type iii
  • mgca3
renal cell carcinoma, nonpapillary
  • rcc
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PFKFB3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PFKFB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PFKFB3 Gene

Publications for PFKFB3 Gene

  1. Molecular cloning, expression, and chromosomal localization of a ubiquitously expressed human 6-phosphofructo-2-kinase/ fructose-2, 6-bisphosphatase gene (PFKFB3). (PMID: 10072580) Manzano A … Bartrons R (Cytogenetics and cell genetics 1998) 2 3 4 23
  2. The third human isoform of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB3) map position 10p14-p15. (PMID: 9146922) Nicholl J … Watts CK (Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology 1997) 2 3 4 23
  3. Molecular basis of the fructose-2,6-bisphosphatase reaction of PFKFB3: transition state and the C-terminal function. (PMID: 22275052) Cavalier MC … Lee YH (Proteins 2012) 2 3 4
  4. A direct substrate-substrate interaction found in the kinase domain of the bifunctional enzyme, 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase. (PMID: 17499765) Kim SG … Lee YH (Journal of molecular biology 2007) 3 4 23
  5. Crystal structure of the hypoxia-inducible form of 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase (PFKFB3): a possible new target for cancer therapy. (PMID: 16316985) Kim SG … Lee YH (The Journal of biological chemistry 2006) 3 4 23

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