PFKFB4
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4
Summary
The protein encoded by this gene is one of four bifunctional kinase/phosphatases that regulate the concentration of the glycolytic byproduct fructose-2,6-bisphosphate (F2,6BP). The encoded protein is highly expressed in cancer cells and is induced by hypoxia. This protein is essential to the survival of cancer cells under conditions of hypoxia, because it increases the amount of F2,6BP and ATP at a time when the cell cannot produce much of them. This finding suggests that this protein may be a good target for disruption in cancer cells, hopefully imperiling their survival. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
Known Variants26 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs137871554 | 3:48,557,151 | T/C | 3 prime UTR variant | — |
| rs2530319154 | 3:48,557,202 | A/T | — | uncertain significance |
| rs560145811 | 3:48,559,433 | G/A | — | uncertain significance |
| rs375766878 | 3:48,559,438 | G/A | — | uncertain significance |
| rs201508846 | 3:48,561,146 | C/G | — | uncertain significance |
| rs2042172799 | 3:48,561,244 | T/G | — | uncertain significance |
| rs73831580 | 3:48,562,122 | C/G | intron variant | — |
| rs767995547 | 3:48,572,989 | C/G | — | uncertain significance |
| rs944791416 | 3:48,572,998 | C/T | — | uncertain significance |
| rs970837696 | 3:48,573,037 | C/T | — | uncertain significance |
| rs550543115 | 3:48,573,729 | C/T | — | uncertain significance |
| rs780281012 | 3:48,573,733 | C/T | — | uncertain significance |
| rs751012777 | 3:48,573,762 | C/T | — | uncertain significance |
| rs758913097 | 3:48,573,790 | C/T | — | uncertain significance |
| rs2042619235 | 3:48,573,877 | T/G | — | uncertain significance |
| rs746491915 | 3:48,575,971 | A/G | — | uncertain significance |
| rs934188775 | 3:48,575,980 | T/C | — | uncertain significance |
| rs2042702216 | 3:48,576,019 | G/A | — | uncertain significance |
| rs1482623883 | 3:48,576,048 | A/C | — | uncertain significance |
| rs140464894 | 3:48,581,045 | G/A | — | uncertain significance |
| rs2530670950 | 3:48,587,367 | C/G | — | uncertain significance |
| rs1256065719 | 3:48,587,387 | T/C | — | uncertain significance |
| rs1343855114 | 3:48,587,388 | T/G | — | uncertain significance |
| rs761570064 | 3:48,587,554 | G/A | — | uncertain significance |
| rs1560177640 | 3:48,587,556 | G/A | — | uncertain significance |
| rs2043334359 | 3:48,594,134 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.