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PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 [ Homo sapiens (human) ]

Gene ID: 5208, updated on 21-May-2019

Summary

Official Symbol
PFKFB2provided by HGNC
Official Full Name
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2provided by HGNC
Primary source
HGNC:HGNC:8873
See related
Ensembl:ENSG00000123836 MIM:171835
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PFK-2/FBPase-2
Summary
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]
Expression
Broad expression in thyroid (RPKM 25.6), duodenum (RPKM 11.7) and 19 other tissues See more
Orthologs

Genomic context

See PFKFB2 in Genome Data Viewer
Location:
1q32.1
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (207053063..207081023)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207207761..207254368)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984109 Neighboring gene YOD1 deubiquitinase Neighboring gene complement component 4 binding protein beta Neighboring gene complement component 4 binding protein alpha Neighboring gene uncharacterized LOC107985251

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • AMPK signaling pathway, organism-specific biosystem (from KEGG)
    AMPK signaling pathway, organism-specific biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • AMPK signaling pathway, conserved biosystem (from KEGG)
    AMPK signaling pathway, conserved biosystemAMP-activated protein kinase (AMPK) is a serine threonine kinase that is highly conserved through evolution. AMPK system acts as a sensor of cellular energy status. It is activated by increases in th...
  • Fructose and mannose metabolism, organism-specific biosystem (from KEGG)
    Fructose and mannose metabolism, organism-specific biosystem
    Fructose and mannose metabolism
  • Fructose and mannose metabolism, conserved biosystem (from KEGG)
    Fructose and mannose metabolism, conserved biosystem
    Fructose and mannose metabolism
  • Glucose metabolism, organism-specific biosystem (from REACTOME)
    Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
  • Glycolysis, organism-specific biosystem (from REACTOME)
    Glycolysis, organism-specific biosystemThe reactions of glycolysis (e.g., van Wijk and van Solinge 2005) convert glucose 6-phosphate to pyruvate. The entire process is cytosolic. Glucose 6-phosphate is reversibly isomerized to form fructo...
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
    Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
  • Thyroid hormone signaling pathway, organism-specific biosystem (from KEGG)
    Thyroid hormone signaling pathway, organism-specific biosystemThe thyroid hormones (THs) are important regulators of growth, development and metabolism. The action of TH is mainly mediated by T3 (3,5,3'-triiodo-L-thyronine). Thyroid hormones, L-thyroxine (T4) a...
  • fructose 2,6-bisphosphate biosynthesis, conserved biosystem (from BIOCYC)
    fructose 2,6-bisphosphate biosynthesis, conserved biosystemGeneral Background |FRAME: CPD-535 "Fructose-2,6-bisphosphate"| is a potent allosteric regulator with dual simultaneous functions. It is an activator of |FRAME: HS06881-MONOMER "phosphofructokinase"...
  • fructose 2,6-bisphosphate synthesis, organism-specific biosystem (from BIOCYC)
    fructose 2,6-bisphosphate synthesis, organism-specific biosystemGeneral Background : CPD-535 is a potent allosteric regulator with dual simultaneous functions. It is an activator of : HS06881-MONOMER "phosphofructokinase" and an inhibitor of : CPLX66-505 "fructo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC138308, MGC138310, DKFZp781D2217

Gene Ontology Provided by GOA

Function Evidence Code Pubs
6-phosphofructo-2-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
6-phosphofructo-2-kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding IEA
Inferred from Electronic Annotation
more info
 
fructose-2,6-bisphosphate 2-phosphatase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
carbohydrate phosphorylation IEA
Inferred from Electronic Annotation
more info
 
dephosphorylation IEA
Inferred from Electronic Annotation
more info
 
fructose 2,6-bisphosphate metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fructose metabolic process IEA
Inferred from Electronic Annotation
more info
 
glucose catabolic process IEA
Inferred from Electronic Annotation
more info
 
glycolytic process IDA
Inferred from Direct Assay
more info
PubMed 
lactate metabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of glucokinase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of glycolytic process TAS
Traceable Author Statement
more info
 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
response to glucose IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2
Names
6PF-2-K/Fru-2,6-P2ASE heart-type isozyme
6PF-2-K/Fru-2,6-P2ase 2
PFK/FBPase 2
PFKFB, cardiac
fructose-2,6-bisphosphatase, cardiac isozyme
NP_001018063.1
NP_006203.2
XP_005273219.1
XP_024303422.1
XP_024303423.1
XP_024303424.1
XP_024303425.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001018053.1NP_001018063.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform b

    See identical proteins and their annotated locations for NP_001018063.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AF470623, AL445493, BX510096
    Consensus CDS
    CCDS31003.1
    UniProtKB/Swiss-Prot
    O60825
    Related
    ENSP00000356046.2, ENST00000367079.3
    Conserved Domains (2) summary
    pfam01591
    Location:26249
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:252435
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  2. NM_006212.2NP_006203.2  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform a

    See identical proteins and their annotated locations for NP_006203.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL445493, BC069583, BX510096
    Consensus CDS
    CCDS31004.1
    UniProtKB/Swiss-Prot
    O60825
    Related
    ENSP00000356047.3, ENST00000367080.8
    Conserved Domains (2) summary
    pfam01591
    Location:26249
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:252435
    His_Phos_1; Histidine phosphatase superfamily (branch 1)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    207053063..207081023
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447657.1XP_024303425.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X3

    Conserved Domains (2) summary
    pfam01591
    Location:26249
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:252435
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  2. XM_024447654.1XP_024303422.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X1

    Conserved Domains (2) summary
    pfam01591
    Location:26249
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:252435
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  3. XM_024447655.1XP_024303423.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X1

    Conserved Domains (2) summary
    pfam01591
    Location:26249
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:252435
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  4. XM_024447656.1XP_024303424.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X2

    Conserved Domains (2) summary
    pfam01591
    Location:1216
    6PF2K; 6-phosphofructo-2-kinase
    pfam00300
    Location:219402
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
  5. XM_005273162.3XP_005273219.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X4

    Conserved Domains (1) summary
    pfam00300
    Location:10193
    His_Phos_1; Histidine phosphatase superfamily (branch 1)
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