ADCY4: Adenylate Cyclase 4 - Key Regulator of cAMP Signaling
Comprehensive genomic and functional analysis of ADCY4, a membrane-bound adenylyl cyclase involved in signal transduction and disease.
Gene Information Card
| Symbol | ADCY4 |
|---|---|
| Full Name | Adenylate Cyclase 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q12 |
| NCBI Gene ID | 196883 ncbi.nlm.nih.gov/gene/196883 |
| Ensembl ID | ENSG00000129467 |
| UniProt ID | Q8NFM4 |
| OMIM ID | 600291 |
| HGNC ID | 235 |
| Aliases | AC4, AC-IV, adenylate cyclase type 4 |
Description
ADCY4 (Adenylate Cyclase 4) is a protein-coding gene that encodes a member of the adenylyl cyclase family, which catalyzes the conversion of ATP to cyclic AMP (cAMP), a key second messenger in signal transduction. The protein is membrane-bound and primarily expressed in brain, heart, and other tissues. ADCY4 is involved in G protein-coupled receptor signaling and has been implicated in various physiological processes and diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Dilated cardiomyopathy | Altered cAMP signaling affecting cardiac contractility | ClinVar, OMIM |
| Schizophrenia | Genetic association with ADCY4 variants affecting cAMP levels in neurons | NCBI Gene, PubMed |
| Major depressive disorder | Dysregulation of ADCY4 expression in brain regions linked to mood | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.3 | Medium |
| Heart | 8.7 | Medium |
| Lung | 3.1 | Low |
| Liver | 1.2 | Not detected |
| Kidney | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HEK293 (embryonic kidney) | 6.8 | Moderate expression |
| HepG2 (liver cancer) | 0.9 | Low expression |
| A549 (lung cancer) | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.001% | Reduced enzyme activity |
| c.567G>A (p.Trp189*) | Nonsense | 0.0005% | Loss of function |
| c.890_891insA | Frameshift | 0.0002% | Premature truncation |
Mutation functional classification
Loss of Function (LOF)
Missense and nonsense variants that reduce or abolish cAMP production.
Gain of Function (GOF)
Not reported for ADCY4.
Dominant Negative (DN)
Not reported for ADCY4.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004016 - adenylate cyclase activity | • GO:0007189 - adenylate cyclase-activating G protein-coupled receptor signaling pathway |
| • GO:0016021 - integral component of membrane | • GO:0035556 - intracellular signal transduction |
| • GO:0005737 - cytoplasm |
Pathways
• cAMP signaling pathway (Reactome: R-HSA-382556)
• G alpha(s) signaling events (Reactome: R-HSA-418555)
• Adenylate cyclase pathway (KEGG: hsa04024)
Protein Summary
ADCY4 encodes a membrane-bound adenylyl cyclase that synthesizes cAMP from ATP. The protein contains two transmembrane domains and two catalytic domains. It is activated by G protein alpha subunits and forskolin, and inhibited by calcium and G protein beta-gamma subunits. ADCY4 plays a critical role in neuronal signaling, cardiac function, and metabolic regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCY4 Knockout HEK293 Cell Line | EDJ-KQ1295 | Human | 196883 | Details Get a Quote |
| ADCY4 Knockout HeLa Cell Line | EDJ-KQ58978 | Human | 196883 | Details Get a Quote |
| ADCY4 Knockout A-549 Cell Line | EDJ-KQ67463 | Human | 196883 | Details Get a Quote |
| ADCY4 Knockout HCT 116 Cell Line | EDJ-KQ75858 | Human | 196883 | Details Get a Quote |
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