adenylate cyclase 6
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Arthrogryposis
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalHereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomalHypomyelination neuropathy - arthrogryposis
hypomyelination neuropathy-arthrogryposis syndrome
diabetic ketoacidosis
hereditary disease
benign chondrogenic neoplasm
familial idiopathic steroid-resistant nephrotic syndrome
focal segmental glomerulosclerosis
nephrotic syndrome
nephronophthisis
breast cancer
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Adenylate cyclase type 6
Catalyzes the formation of the signaling molecule cAMP downstream of G protein-coupled receptors (PubMed:17110384, PubMed:17916776). Functions in signaling cascades downstream of beta-adrenergic receptors in the heart and in vascular smooth muscle cells (PubMed:17916776). Functions in signaling cascades downstream of the vasopressin receptor in the kidney and has a role in renal water reabsorption. Functions in signaling cascades downstream of PTH1R and plays a role in regulating renal phosphate excretion. Functions in signaling cascades downstream of the VIP and SCT receptors in pancreas and contributes to the regulation of pancreatic amylase and fluid secretion (By similarity). Signaling mediates cAMP-dependent activation of protein kinase PKA. This promotes increased phosphorylation of various proteins, including AKT. Plays a role in regulating cardiac sarcoplasmic reticulum Ca(2+) uptake and storage, and is required for normal heart ventricular contractibility. May contribute to normal heart function (By similarity). Mediates vasodilatation after activation of beta-adrenergic receptors by isoproterenol (PubMed:17916776). Contributes to bone cell responses to mechanical stimuli (By similarity)
ADCY6 · O43306
Mean pLDDT
76.3/ 100
Confident
1,168 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
