Gene: PFKFB2

Alternate names for this Gene: PFK-2/FBPase-2

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2

Type of Gene: protein-coding

Gene: YOD1

Alternate names for this Gene: DUBA8|OTUD2|PRO0907

Gene Summary: Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. The protein encoded by this gene belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: YOD1 deubiquitinase

Type of Gene: protein-coding

rs2629665 in PFKFB2;YOD1 gene and Diastolic blood pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs2629665 in PFKFB2;YOD1 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.