Alternative titles; symbols
HGNC Approved Gene Symbol: ADCY2
Cytogenetic location: 5p15.31 Genomic coordinates (GRCh38): 5:7,396,138-7,830,081 (from NCBI)
ADCY2 belongs to the adenylate cyclase (EC 4.6.1.1) family of enzymes responsible for the synthesis of cAMP (Ludwig and Seuwen, 2002).
Stengel et al. (1992) identified a brain cDNA corresponding to a gene that encodes a human brain adenylyl cyclase, which they symbolized HBAC2. The amino acid sequence of ADCY2 displayed significant homology with ADCY8 (103070) in the highly conserved adenylyl cyclase domain (250 amino acids) found in the 3-prime cytoplasmic portion of all mammalian adenylyl cyclases. However, outside this domain, the homology was extremely low.
Wong et al. (2000) identified the presence of adenylyl cyclases 2, 3 (600291), and 4 (600292) in olfactory cilia.
By database analysis, Ludwig and Seuwen (2002) identified full-length ADCY2, encoding a deduced protein of 1,086 amino acids. Semiquantitative RT-PCR detected ADCY2 in all tissues examined except peripheral blood leukocytes. Highest expression was detected in brain, skeletal muscle, and testis.
Ludwig and Seuwen (2002) determined that the ADCY2 gene contains 25 exons and spans 429.7 kb.
By in situ hybridization to metaphase chromosomal spreads using a human brain cDNA probe, Stengel et al. (1992) demonstrated that the ADCY2 gene maps to 5p15.3. Using Southern blot analysis of somatic cell hybrid DNAs, Gaudin et al. (1994) likewise mapped type II adenylyl cyclase to chromosome 5. Furthermore, they determined the chromosomal location of 4 other isoforms: type III on chromosome 2, type IV on chromosome 14, type V on chromosome 3, and type VI on chromosome 12. By fluorescence in situ hybridization, Edelhoff et al. (1995) mapped the mouse homolog to chromosome 13 in the C1 region.
Edelhoff, S., Villacres, E. C., Storm, D. R., Disteche, C. M. Mapping of adenylyl cyclase genes type I, II, III, IV, V, and VI in mouse. Mammalian Genome 6: 111-113, 1995. [PubMed: 7766992] [Full Text: https://doi.org/10.1007/BF00303253]
Gaudin, C., Homcy, C. J., Ishikawa, Y. Mammalian adenylyl cyclase family members are randomly located on different chromosomes. Hum. Genet. 94: 527-529, 1994. [PubMed: 7959689] [Full Text: https://doi.org/10.1007/BF00211020]
Ludwig, M.-G., Seuwen, K. Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. J. Recept. Signal Transduct. Res. 22: 79-110, 2002. [PubMed: 12503609] [Full Text: https://doi.org/10.1081/rrs-120014589]
Stengel, D., Parma, J., Gannage, M.-H., Roeckel, N., Mattei, M.-G., Barouki, R., Hanoune, J. Different chromosomal localization of two adenylyl cyclase genes expressed in human brain. Hum. Genet. 90: 126-130, 1992. [PubMed: 1427768] [Full Text: https://doi.org/10.1007/BF00210755]
Wong, S. T., Trinh, K., Hacker, B., Chan, G. C. K., Lowe, G., Gaggar, A., Xia, Z., Gold, G. H., Storm, D. R. Disruption of the type III adenylyl cyclase gene leads to peripheral and behavioral anosmia in transgenic mice. Neuron 27: 487-497, 2000. [PubMed: 11055432] [Full Text: https://doi.org/10.1016/s0896-6273(00)00060-x]