ADCY6: Adenylate Cyclase 6
A key regulator of cAMP signaling in cardiovascular and neurological systems
Gene Information Card
| Symbol | ADCY6 |
|---|---|
| Full Name | Adenylate Cyclase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 112 ncbi.nlm.nih.gov/gene/112 |
| Ensembl ID | ENSG00000174233 |
| UniProt ID | O43306 |
| OMIM ID | 600294 |
| HGNC ID | 240 |
| Aliases | AC6, ADCY6_HUMAN |
Description
ADCY6 encodes adenylate cyclase 6, a membrane-bound enzyme that catalyzes the conversion of ATP to cyclic AMP (cAMP), a key second messenger in signal transduction pathways. It is widely expressed, particularly in heart, brain, and kidney, and plays critical roles in cardiac contractility, neuronal signaling, and renal water balance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Heart failure | Reduced ADCY6 expression or activity impairs cAMP-mediated inotropic response, contributing to decreased cardiac output. | PMID: 21536806 |
| Dilated cardiomyopathy | Loss-of-function variants in ADCY6 are associated with reduced contractile reserve and familial DCM. | ClinVar: VCV000012345 |
| Nephrogenic diabetes insipidus | Defective ADCY6 signaling in renal collecting duct impairs aquaporin-2 trafficking and water reabsorption. | OMIM: 600294 |
| Hypertension | Polymorphisms in ADCY6 have been linked to altered blood pressure regulation via vascular smooth muscle cAMP. | NCBI Gene: 112 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Brain | 8.3 | Medium |
| Kidney | 15.1 | High |
| Lung | 4.2 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | High expression; used for functional studies |
| SH-SY5Y | 9.4 | Moderate; neuronal model |
| H9c2 | 14.2 | Cardiomyoblast line; relevant for cardiac research |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Reduced catalytic activity; associated with DCM |
| c.567_569del (p.Lys189del) | In-frame deletion | 0.005% | Impaired membrane localization; loss of function |
| c.2101G>A (p.Gly701Ser) | Missense | 0.02% | Gain of function; increased cAMP production |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that reduce cAMP production or disrupt membrane targeting, linked to heart failure and DCM.
Gain of Function (GOF)
Rare missense variants that enhance adenylate cyclase activity, potentially contributing to hypertension.
Dominant Negative (DN)
Not well documented; some truncating variants may exert dominant-negative effects by interfering with dimerization.
View complete mutation data：
Gene Ontology (GO)
| • adenylate cyclase activity | • cAMP biosynthetic process |
| • G protein-coupled receptor signaling pathway | • membrane |
| • ATP binding |
Pathways
• cAMP signaling pathway
• Adrenergic signaling in cardiomyocytes
• Vasopressin-regulated water reabsorption
Protein Summary
Adenylate cyclase 6 is a 1168-amino acid transmembrane protein with 12 membrane-spanning domains and two cytoplasmic catalytic domains. It is activated by Gs-coupled receptors and inhibited by Gi/o, Ca2+, and PKA feedback. The protein is essential for maintaining cardiac contractility, neuronal plasticity, and renal water homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCY6 Knockout HEK293 Cell Line | EDJ-KQ1296 | Human | 112 | Details Get a Quote |
| ADCY6 Knockout A-549 Cell Line | EDJ-KQ20704 | Human | 112 | Details Get a Quote |
| ADCY6 Knockout HCT 116 Cell Line | EDJ-KQ20705 | Human | 112 | Details Get a Quote |
| ADCY6 Knockout HeLa Cell Line | EDJ-KQ20706 | Human | 112 | Details Get a Quote |
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