Aliases for ADCY5 Gene
External Ids for ADCY5 Gene
Previous GeneCards Identifiers for ADCY5 Gene
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
GeneCards Summary for ADCY5 Gene
ADCY5 (Adenylate Cyclase 5) is a Protein Coding gene. Diseases associated with ADCY5 include dyskinesia, familial, with facial myokymia and thyroid adenoma. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include protein heterodimerization activity and adenylate cyclase binding. An important paralog of this gene is NPR2.
UniProtKB/Swiss-Prot for ADCY5 Gene
This is a membrane-bound, calcium-inhibitable adenylyl cyclase
Adenylyl Cyclases (AC) are a group of enzymes that convert adenosine-5'-triphosphate (ATP) into 3',5'-adenosine monophosphate (cAMP) and pyrophosphate. There are ten different mammalian isoforms of AC; nine are membrane-bound, which are all found in, but not limited to, excitable tissues such as neurons and muscle, and one soluble form (sAC), which is expressed predominantly in the testis. The ten adenylyl cyclase isoforms can be divided into five distinct families based on their functional attributes; AC1, AC3 and AC8 are Ca2+-calmodulin-sensitive; AC2, AC4 and AC7 are Gbetagamma-stimulatory forms; AC5 and AC6 are distinguished by their insensitivity to inhibition by both Ca2+ and Galphai; AC9 is forskolin-insensitive and sAC is similar to cyanobacteria AC. Adenylyl cyclases are regulated by post-translational modifications, phosphorylation, G proteins, forskolin, pyrophosphate, calcium and calmodulin and the functions of this enzyme are diverse. Perturbations in adenylyl cyclase activity has been implicated in alcholol and opioid addiction and is associated with human diseases, including thyroid adenoma, male precocious puberty and chondrodysplasia.