Aliases for AK2 Gene
External Ids for AK2 Gene
Previous GeneCards Identifiers for AK2 Gene
Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]
GeneCards Summary for AK2 Gene
AK2 (Adenylate Kinase 2) is a Protein Coding gene. Diseases associated with AK2 include Reticular Dysgenesis and Severe Combined Immunodeficiency. Among its related pathways are Metabolism and Purine metabolism. GO annotations related to this gene include adenylate kinase activity and phosphotransferase activity, phosphate group as acceptor. An important paralog of this gene is AK8.
UniProtKB/Swiss-Prot for AK2 Gene
Catalyzes the reversible transfer of the terminal phosphate group between ATP and AMP. Plays an important role in cellular energy homeostasis and in adenine nucleotide metabolism. Adenylate kinase activity is critical for regulation of the phosphate utilization and the AMP de novo biosynthesis pathways. Plays a key role in hematopoiesis.