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ADCY5
Identifiers
Aliases	ADCY5, AC5, FDFM, adenylate cyclase 5, DSKOD
External IDs	OMIM: 600293; MGI: 99673; HomoloGene: 11213; GeneCards: ADCY5; OMA:ADCY5 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	123,449,090 bp
Gene location (Mouse)
Chr.	Chromosome 16 (mouse)
End	35,126,108 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; gastric mucosa; ; right coronary artery; ; popliteal artery; ; tibial arteries; ; right auricle; ; left ventricle; ; putamen; ; nucleus accumbens; ; cardiac muscle tissue of right atrium;
	Top expressed in
	olfactory tubercle; ; nucleus accumbens; ; ascending aorta; ; globus pallidus; ; superior frontal gyrus; ; nucleus of stria terminalis; ; aortic valve; ; lateral septal nucleus; ; Temporal Lobe; ; Amygdala;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	nucleotide binding; adenylate cyclase binding; metal ion binding; lyase activity; protein heterodimerization activity; adenylate cyclase activity; phosphorus-oxygen lyase activity; ATP binding; scaffold protein binding; guanylate cyclase activity;
Cellular component	integral component of membrane; cell projection; membrane; plasma membrane; cilium; intermediate filament cytoskeleton; guanylate cyclase complex, soluble; integral component of plasma membrane;
Biological process	cAMP biosynthetic process; G protein-coupled adenosine receptor signaling pathway; adenylate cyclase-activating dopamine receptor signaling pathway; regulation of insulin secretion involved in cellular response to glucose stimulus; intracellular signal transduction; cellular response to forskolin; adenylate cyclase-activating G protein-coupled receptor signaling pathway; locomotory behavior; neuromuscular process controlling balance; positive regulation of cytosolic calcium ion concentration; cellular response to glucagon stimulus; cyclic nucleotide biosynthetic process; adenylate cyclase-inhibiting dopamine receptor signaling pathway; renal water homeostasis; cGMP biosynthetic process; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway; G protein-coupled receptor signaling pathway; activation of adenylate cyclase activity; activation of protein kinase A activity;
	Sources:Amigo / QuickGO
Orthologs
	111
	224129
	ENSG00000173175
	ENSMUSG00000022840
	O95622
	P84309
	NM_001199642; NM_183357; NM_001378259
	NM_001012765
	NP_001186571; NP_899200; NP_001365188
	NP_001012783
	Wikidata
View/Edit Human	View/Edit Mouse

Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.^[5]^[6]

Interactions

ADCY5 has been shown to interact with RGS2.^[7]

Clinical significance

Mutations in ADCY5 are known to cause the following conditions:^[8]

Dyskinesia with orofacial involvement, autosomal recessive (DSKOR);
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD).

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000173175 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022840 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Raimundo S, Giray J, Volff JN, Schwab M, Altenbuchner J, Ratge D, Wisser H (October 1999). "Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues". Clin Chim Acta. 285 (1–2): 155–61. doi:10.1016/S0009-8981(99)00067-4. PMID 10481931.
^ "Entrez Gene: ADCY5 adenylate cyclase 5".
^ Salim S, Sinnarajah S, Kehrl JH, Dessauer CW (May 2003). "Identification of RGS2 and type V adenylyl cyclase interaction sites". J. Biol. Chem. 278 (18): 15842–9. doi:10.1074/jbc.M210663200. PMID 12604604.
^ "UniProt". www.uniprot.org. Retrieved 2023-07-04.