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    PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 [ Homo sapiens (human) ]

    Gene ID: 5209, updated on 28-Oct-2024

    Summary

    Official Symbol
    PFKFB3provided by HGNC
    Official Full Name
    6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3provided by HGNC
    Primary source
    HGNC:HGNC:8874
    See related
    Ensembl:ENSG00000170525 MIM:605319; AllianceGenome:HGNC:8874
    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
    PFK2; IPFK2; iPFK-2
    Summary
    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]
    Expression
    Biased expression in fat (RPKM 188.2), bone marrow (RPKM 67.0) and 9 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PFKFB3 in Genome Data Viewer
    Location:
    10p15.1
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (6144921..6326637)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (6145107..6326763)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (6186884..6296611)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2097 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2098 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:6131655-6132493 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6137781-6138282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6138283-6138782 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6138886-6139486 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:6149773-6150468 Neighboring gene RNA binding motif protein 17 Neighboring gene MPRA-validated peak861 silencer Neighboring gene uncharacterized LOC101928080 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2956 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6176097-6176645 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6176646-6177193 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2957 Neighboring gene uncharacterized LOC124902369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2958 Neighboring gene CRISPRi-FlowFISH-validated PFKFB3 regulatory elements GRCh37_chr10:6186610-6187110 and GRCh37_chr10:6186666-6187166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2101 Neighboring gene RN7SK pseudogene 78 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2962 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6208105-6208604 Neighboring gene microRNA 3155a Neighboring gene microRNA 3155b Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2963 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6224665-6225256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6242531-6243048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6243049-6243565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6244120-6244624 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2106 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2107 Neighboring gene PFKFB3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6246364-6246866 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6260567-6261068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6261069-6261568 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_13537 Neighboring gene MPRA-validated peak862 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2964 Neighboring gene MPRA-validated peak863 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2966 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6321282-6322036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2967 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:6340850-6342049 Neighboring gene syndecan binding protein pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:6356348-6356848 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:6356849-6357349 Neighboring gene long intergenic non-protein coding RNA 2649 Neighboring gene developmental pluripotency associated 5 pseudogene 3 Neighboring gene CRISPRi-FlowFISH-validated PFKFB3 regulatory element GRCh37_chr10:6389972-6390472 Neighboring gene long intergenic non-protein coding RNA 2656

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
    EBI GWAS Catalog
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ37326

    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 6-phosphofructo-2-kinase activity NAS
    Non-traceable Author Statement
    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 
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    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 glial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycolytic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motor behavior 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 3
    Names
    6-phosphofructo-2-kinase/ fructose-2,6-bisphosphatase
    6PF-2-K/Fru-2,6-P2ase 3
    6PF-2-K/Fru-2,6-P2ase brain/placenta-type isozyme
    PFK/FBPase 3
    fructose-6-phosphate,2-kinase/fructose-2, 6-bisphosphatase
    inducible 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase
    renal carcinoma antigen NY-REN-56
    NP_001138915.1
    NP_001269559.1
    NP_001300992.1
    NP_001309945.1
    NP_001309946.1
    NP_001350474.1
    NP_004557.1
    XP_005252521.1
    XP_011517795.1
    XP_016871818.1
    XP_047281297.1
    XP_047281298.1
    XP_047281299.1
    XP_047281300.1
    XP_047281301.1
    XP_047281302.1
    XP_047281303.1
    XP_047281305.1
    XP_054222048.1
    XP_054222049.1
    XP_054222050.1
    XP_054222051.1
    XP_054222052.1
    XP_054222053.1
    XP_054222054.1
    XP_054222055.1
    XP_054222056.1
    XP_054222057.1
    XP_054222058.1

    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_001145443.3NP_001138915.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 2

      See identical proteins and their annotated locations for NP_001138915.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI633567, AK303039, AL157395, AL359960, DC319465
      Consensus CDS
      CCDS44353.1
      UniProtKB/TrEMBL
      B7Z8A0
      Related
      ENSP00000369115.4, ENST00000379789.8
      Conserved Domains (2) summary
      pfam01591
      Location:7226
      6PF2K; 6-phosphofructo-2-kinase
      pfam00300
      Location:229412
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
    2. NM_001282630.3NP_001269559.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 3

      See identical proteins and their annotated locations for NP_001269559.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' terminal exon compared to variant 1. The resulting isoform (3) has a longer and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AI633567, AK303039, AK304450, AL359960, DC316967
      Consensus CDS
      CCDS60479.1
      UniProtKB/TrEMBL
      B7Z8A0
      Related
      ENSP00000443319.2, ENST00000536985.6
      Conserved Domains (2) summary
      pfam00300
      Location:263446
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:41260
      6PF2K; 6-phosphofructo-2-kinase
    3. NM_001314063.2NP_001300992.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and contains an alternate exon in the 3' coding region that results in a frameshift, compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AF056320, AI633567, AL157395, AL359960, DB068734
      Consensus CDS
      CCDS81439.1
      UniProtKB/TrEMBL
      Q5W015
      Related
      ENSP00000353712.2, ENST00000360521.7
      Conserved Domains (2) summary
      pfam01591
      Location:26246
      6PF2K; 6-phosphofructo-2-kinase
      pfam00300
      Location:249432
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
    4. NM_001323016.2NP_001309945.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL157395, AL359960
      UniProtKB/TrEMBL
      B7Z8A0
      Conserved Domains (2) summary
      pfam01591
      Location:7226
      6PF2K; 6-phosphofructo-2-kinase
      pfam00300
      Location:229412
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
    5. NM_001323017.2NP_001309946.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL157395, AL359960
    6. NM_001363545.2NP_001350474.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL157395, AL359960
      Consensus CDS
      CCDS86068.1
      UniProtKB/TrEMBL
      A0A1W2PR17, Q5W015
      Related
      ENSP00000492001.1, ENST00000640683.1
      Conserved Domains (2) summary
      pfam01591
      Location:26246
      6PF2K; 6-phosphofructo-2-kinase
      pfam00300
      Location:249435
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
    7. NM_004566.4NP_004557.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform 1

      See identical proteins and their annotated locations for NP_004557.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AI633567, AK291263, AL157395, AL359960, DB068734
      Consensus CDS
      CCDS7078.1
      UniProtKB/Swiss-Prot
      B7Z955, O43622, O75902, Q16875, Q5VX15, Q5VX18, Q5VX19
      UniProtKB/TrEMBL
      Q5W015
      Related
      ENSP00000369100.4, ENST00000379775.9
      Conserved Domains (2) summary
      pfam00300
      Location:249435
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
      pfam01591
      Location:26246
      6PF2K; 6-phosphofructo-2-kinase

    RNA

    1. NR_136554.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL157395, AL359960

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      6144921..6326637
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425341.1XP_047281297.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2

    2. XM_047425347.1XP_047281303.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X9

    3. XM_047425346.1XP_047281302.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X7

    4. XM_047425343.1XP_047281299.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4

    5. XM_005252464.2XP_005252521.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X8

      See identical proteins and their annotated locations for XP_005252521.1

      UniProtKB/TrEMBL
      F2Z2I2
      Related
      ENSP00000486311.1, ENST00000625260.2
      Conserved Domains (2) summary
      pfam01591
      Location:26246
      6PF2K; 6-phosphofructo-2-kinase
      pfam00300
      Location:249435
      His_Phos_1; Histidine phosphatase superfamily (branch 1)
    6. XM_047425344.1XP_047281300.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X5

    7. XM_047425342.1XP_047281298.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X3

    8. XM_011519493.2XP_011517795.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X10

      UniProtKB/TrEMBL
      F2Z2I2
      Conserved Domains (2) summary
      cd07067
      Location:248399
      HP_PGM_like; Histidine phosphatase domain found in phosphoglycerate mutases and related proteins, mostly phosphatases; contains a His residue which is phosphorylated during the reaction
      pfam01591
      Location:26246
      6PF2K; 6-phosphofructo-2-kinase
    9. XM_017016329.2XP_016871818.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X1

      UniProtKB/TrEMBL
      Q5W015
    10. XM_047425345.1XP_047281301.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X6

    11. XM_047425349.1XP_047281305.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X11

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      6145107..6326763
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366074.1XP_054222049.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X2

    2. XM_054366081.1XP_054222056.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X9

    3. XM_054366079.1XP_054222054.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X7

    4. XM_054366076.1XP_054222051.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X4

    5. XM_054366080.1XP_054222055.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X8

    6. XM_054366077.1XP_054222052.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X5

    7. XM_054366075.1XP_054222050.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X3

    8. XM_054366082.1XP_054222057.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X10

    9. XM_054366073.1XP_054222048.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X1

    10. XM_054366078.1XP_054222053.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X6

    11. XM_054366083.1XP_054222058.1  6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 3 isoform X11