Alternative titles; symbols
HGNC Approved Gene Symbol: PFKFB2
Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:207,034,416-207,081,027 (from NCBI)
6-Phosphofructo-2-kinase (EC 2.7.1.105)/fructose-2,6-bisphosphatase (EC 3.1.3.46) (PFKFB) is a bifunctional enzyme that catalyzes the synthesis and degradation of fructose-2,6-bisphosphate, a key regulator of glycolysis. In mammals, several isoforms of this enzyme are encoded by different genes and differ in their tissue distribution. Heine-Suner et al. (1998) isolated a PFKFB cDNA (PFKFB2) encoding the heart isoform from a human heart cDNA library. The deduced 505-amino acid protein has a predicted molecular mass of 58.8 kD and shares 90 to 95% sequence identity with the bovine and rat heart isoforms.
Heine-Suner et al. (1998) determined that the PFKFB2 gene contains 15 exons and spans approximately 22.5 kb.
By analysis of somatic cell hybrids followed by in situ hybridization, Hilliker et al. (1991) mapped the PFKFB2 gene to human chromosome 1q31 and rat chromosome 13q24-q25.
Heine-Suner et al. (1997) constructed a high-resolution map of the 1q32 region and identified the PFKFB2 gene about 15 kb upstream of the C4BPB gene (120831).
Heine-Suner, D., Diaz-Guillen, M. A., de Villena, F. P.-M., Robledo, M., Benitez, J., Rodriguez de Cordoba, S. A high-resolution map of the regulator of the complement activation gene cluster on 1q32 that integrates new genes and markers. Immunogenetics 45: 422-427, 1997. [PubMed: 9089100] [Full Text: https://doi.org/10.1007/s002510050224]
Heine-Suner, D., Diaz-Guillen, M. A., Lange, A. J., Rodriguez de Cordoba, S. Sequence and structure of the human 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase heart isoform gene (PFKFB2). Europ. J. Biochem. 254: 103-110, 1998. [PubMed: 9652401] [Full Text: https://doi.org/10.1046/j.1432-1327.1998.2540103.x]
Hilliker, C. E., Darville, M. I., Aly, M. S., Chikri, M., Szpirer, C., Marynen, P., Rousseau, G. G., Cassiman, J.-J. Human and rat chromosomal localization of two genes for 6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase by analysis of somatic cell hybrids and in situ hybridization. Genomics 10: 867-873, 1991. [PubMed: 1655632] [Full Text: https://doi.org/10.1016/0888-7543(91)90174-d]