PFKFB3
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3
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]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs605358 | 10:6,226,216 | A/C | — | — |
| rs1843459684 | 10:6,245,284 | C/T | — | uncertain significance |
| rs746156494 | 10:6,257,191 | C/A | — | uncertain significance |
| rs376208847 | 10:6,257,228 | A/G | — | uncertain significance |
| rs1182445688 | 10:6,258,105 | C/A | — | uncertain significance |
| rs765641319 | 10:6,258,120 | A/G | — | uncertain significance |
| rs764975677 | 10:6,259,114 | C/T | — | uncertain significance |
| rs1027570401 | 10:6,261,536 | T/C | — | uncertain significance |
| rs2491360803 | 10:6,261,622 | A/G | — | uncertain significance |
| rs757448210 | 10:6,261,637 | G/A | — | uncertain significance |
| rs773379850 | 10:6,262,760 | G/A | — | uncertain significance |
| rs200723320 | 10:6,262,817 | C/T | — | uncertain significance |
| rs755690043 | 10:6,263,368 | G/A | — | uncertain significance |
| rs774521447 | 10:6,263,447 | G/A | — | uncertain significance |
| rs34184265 | 10:6,263,457 | C/T | — | benign |
| rs1844956519 | 10:6,263,479 | G/A | — | uncertain significance |
| rs371075114 | 10:6,263,607 | G/A | — | uncertain significance |
| rs202182009 | 10:6,264,936 | A/T | — | uncertain significance |
| rs756837478 | 10:6,265,929 | C/A | — | uncertain significance |
| rs199594802 | 10:6,265,955 | C/T | — | likely benign |
| rs143044080 | 10:6,265,956 | G/A | — | uncertain significance |
| rs766986473 | 10:6,266,118 | G/A | — | uncertain significance |
| rs2491417390 | 10:6,266,129 | A/G | — | uncertain significance |
| rs2491417467 | 10:6,266,133 | A/G | — | uncertain significance |
| rs2491443648 | 10:6,268,214 | C/A | — | uncertain significance |
| rs750259449 | 10:6,268,236 | C/T | — | uncertain significance |
| rs12357847 | 10:6,270,511 | A/G | regulatory region variant | — |
| rs7077335 | 10:6,315,794 | C/A | upstream gene variant | — |
| rs7913723 | 10:6,351,150 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.