This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic
miRNAmiRNA information provided by mirtarbase database.
Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Adenylate cyclase type 6 (EC 4.6.1.1) (ATP pyrophosphate-lyase 6) (Adenylate cyclase type VI) (Adenylyl cyclase 6) (Ca(2+)-inhibitable adenylyl cyclase)
Protein function
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 musc
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
CausalDiseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
12
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","ClinVar (Lethal congenital contracture syndrome)","GWAS catalog (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
12
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","ClinVar (Lethal congenital contracture syndrome)","GWAS catalog (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
10
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
11
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","ClinVar (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
["Congenital deformity of clavicle","Congenital deformity of elbow","Congenital deformity of forearm","Congenital deformity of scapula","Congenital deformity of wrist","Congenital dislocation of elbow","Congenital glenohumeral joint dislocation","Lethal congenital contracture syndrome"]
0
[]
11
["Disgenet (Congenital deformity of clavicle)","Disgenet (Congenital deformity of elbow)","Disgenet (Congenital deformity of forearm)","Disgenet (Congenital deformity of scapula)","Disgenet (Congenital deformity of wrist)","Disgenet (Congenital dislocation of elbow)","Disgenet (Congenital glenohumeral joint dislocation)","Disgenet (Lethal congenital contracture syndrome)","CTD (Lethal congenital contracture syndrome)","ClinVar (Lethal congenital contracture syndrome)","HPO (Lethal congenital contracture syndrome)"]
Diseases Linked via Similar GenesDiseases curated for genes most similar to ADCY6 (see Related Genes above), that are NOT already directly curated for ADCY6 itself -- a lead worth checking, not a confirmed association.