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

Gene ID: 5209, updated on 3-Nov-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
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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