PFKFB2
6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2
Summary
The protein encoded by this gene is 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, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants31 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs186984695 | 1:207,217,351 | C/T | 3 prime UTR variant | — |
| rs3790619 | 1:207,221,929 | T/G | upstream gene variant | — |
| rs4844565 | 1:207,227,138 | A/T | upstream gene variant | — |
| rs779520683 | 1:207,235,336 | G/A | — | uncertain significance |
| rs142450533 | 1:207,235,372 | G/A | — | uncertain significance |
| rs138596532 | 1:207,236,505 | C/T | — | uncertain significance |
| rs1355637462 | 1:207,236,525 | T/C | — | uncertain significance |
| rs2526697867 | 1:207,236,702 | C/T | — | uncertain significance |
| rs2526708762 | 1:207,238,448 | A/C | — | uncertain significance |
| rs1333386085 | 1:207,238,457 | A/T | — | uncertain significance |
| rs745521924 | 1:207,240,866 | A/G | — | uncertain significance |
| rs977149025 | 1:207,240,921 | A/G | — | uncertain significance |
| rs140730046 | 1:207,240,981 | A/C | — | uncertain significance |
| rs773199400 | 1:207,240,992 | G/A | — | uncertain significance |
| rs1683334542 | 1:207,241,004 | T/A | — | uncertain significance |
| rs764192402 | 1:207,241,035 | C/T | — | uncertain significance |
| rs1360914842 | 1:207,241,540 | A/T | — | uncertain significance |
| rs758392466 | 1:207,241,578 | T/C | — | uncertain significance |
| rs1309582719 | 1:207,242,769 | G/A | — | uncertain significance |
| rs888235501 | 1:207,242,770 | G/A | — | uncertain significance |
| rs2526736833 | 1:207,242,802 | G/A | — | uncertain significance |
| rs1204977075 | 1:207,242,835 | G/A | — | uncertain significance |
| rs151137785 | 1:207,245,613 | G/A | — | uncertain significance |
| rs751201910 | 1:207,245,620 | T/A | — | uncertain significance |
| rs1301520570 | 1:207,245,628 | G/A | — | uncertain significance |
| rs538599971 | 1:207,245,685 | G/A | — | uncertain significance |
| rs755589744 | 1:207,245,711 | G/C | — | uncertain significance |
| rs143736099 | 1:207,247,042 | C/G | 3 prime UTR variant | — |
| rs1060286 | 1:207,250,300 | G/A | regulatory region variant | — |
| rs1560 | 1:207,250,631 | A/T | — | — |
| rs145911185 | 1:207,252,330 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.