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

    Gene ID: 5208, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:8873
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PFKFB2 in Genome Data Viewer
    Location:
    1q32.1
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (207034416..207081027)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (206299607..206346250)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (207226620..207254372)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene tRNA-Pro (anticodon TGG) 5-1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:207192892-207194091 Neighboring gene chromosome 1 open reading frame 116 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 4428 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207224117-207224687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:207225911-207226550 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:207240869-207241100 Neighboring gene YOD1 deubiquitinase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2439 Neighboring gene complement component 4 binding protein beta Neighboring gene uncharacterized LOC107985251 Neighboring gene complement component 4 binding protein alpha

    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 Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC138308, MGC138310, DKFZp781D2217

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables 6-phosphofructo-2-kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables 6-phosphofructo-2-kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables fructose-2,6-bisphosphate 2-phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in carbohydrate phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in fructose 2,6-bisphosphate metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in fructose metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glucose catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycolytic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lactate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of insulin secretion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to glucose IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm 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
    XP_047278503.1
    XP_047278504.1
    XP_047278505.1
    XP_054192998.1
    XP_054192999.1
    XP_054193000.1
    XP_054193001.1
    XP_054193002.1
    XP_054193003.1
    XP_054193004.1
    XP_054193005.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001018053.2NP_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
      pfam00300
      Location:252435
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:26249
      6PF2K; 6-phosphofructo-2-kinase
    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
      O60824, O60825, Q5VVQ3, Q5VVQ4, Q9H3P1
      Related
      ENSP00000356047.3, ENST00000367080.8
      Conserved Domains (2) summary
      pfam00300
      Location:252435
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:26249
      6PF2K; 6-phosphofructo-2-kinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      207034416..207081027
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422548.1XP_047278504.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X1

      UniProtKB/Swiss-Prot
      O60824, O60825, Q5VVQ3, Q5VVQ4, Q9H3P1
    2. XM_047422547.1XP_047278503.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X1

      UniProtKB/Swiss-Prot
      O60824, O60825, Q5VVQ3, Q5VVQ4, Q9H3P1
    3. XM_024447657.2XP_024303425.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X3

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

      UniProtKB/Swiss-Prot
      O60824, O60825, Q5VVQ3, Q5VVQ4, Q9H3P1
      Conserved Domains (2) summary
      pfam00300
      Location:252435
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:26249
      6PF2K; 6-phosphofructo-2-kinase
    5. XM_047422549.1XP_047278505.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X3

    6. XM_024447655.2XP_024303423.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X1

      UniProtKB/Swiss-Prot
      O60824, O60825, Q5VVQ3, Q5VVQ4, Q9H3P1
      Conserved Domains (2) summary
      pfam00300
      Location:252435
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:26249
      6PF2K; 6-phosphofructo-2-kinase
    7. XM_024447656.2XP_024303424.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X2

      UniProtKB/TrEMBL
      B0FLL2
      Conserved Domains (2) summary
      pfam01591
      Location:1216
      6PF2K; 6-phosphofructo-2-kinase
      pfam00300
      Location:219402
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
    8. XM_005273162.4XP_005273219.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X4

      UniProtKB/TrEMBL
      Q68DE0
      Conserved Domains (1) summary
      pfam00300
      Location:10193
      His_Phos_1; Histidine phosphatase superfamily (branch 1)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      206299607..206346250
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337025.1XP_054193000.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X1

      UniProtKB/Swiss-Prot
      O60824, O60825, Q5VVQ3, Q5VVQ4, Q9H3P1
    2. XM_054337024.1XP_054192999.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X1

      UniProtKB/Swiss-Prot
      O60824, O60825, Q5VVQ3, Q5VVQ4, Q9H3P1
    3. XM_054337026.1XP_054193001.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X1

      UniProtKB/Swiss-Prot
      O60824, O60825, Q5VVQ3, Q5VVQ4, Q9H3P1
    4. XM_054337029.1XP_054193004.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X3

    5. XM_054337028.1XP_054193003.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X3

    6. XM_054337023.1XP_054192998.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X1

      UniProtKB/Swiss-Prot
      O60824, O60825, Q5VVQ3, Q5VVQ4, Q9H3P1
    7. XM_054337027.1XP_054193002.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X2

      UniProtKB/TrEMBL
      B0FLL2
    8. XM_054337030.1XP_054193005.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 2 isoform X4

      UniProtKB/TrEMBL
      Q68DE0