PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
Gene ID: 5209, updated on 28-Oct-2024Gene type: protein coding
Also known as: PFK2; IPFK2; iPFK-2
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- Go to complete Gene record for PFKFB3
- Go to Variation Viewer for PFKFB3 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100. GeneReviews: Not available | |
| Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus. GeneReviews: Not available |
Genomic context
- Location:
- 10p15.1
- Sequence:
- Chromosome: 10; NC_000010.11 (6144921..6326637)
- Total number of exons:
- 21
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PFKFB3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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