ADCY9: Adenylate Cyclase 9
A key regulator of cAMP signaling with implications in cardiovascular disease, cancer, and neuropsychiatric disorders.
Gene Information Card
| Symbol | ADCY9 |
|---|---|
| Full Name | Adenylate Cyclase 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 115 ncbi.nlm.nih.gov/gene/115 |
| Ensembl ID | ENSG00000161960 |
| UniProt ID | O60503 |
| OMIM ID | 603302 |
| HGNC ID | 236 |
| Aliases | AC9, ADCY7, KIAA0520 |
Description
ADCY9 (Adenylate Cyclase 9) encodes a member of the adenylate 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 involved in various physiological processes including cardiac function, immune response, and neuroplasticity. ADCY9 is expressed in multiple tissues and has been implicated in cardiovascular diseases, certain cancers, and psychiatric conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiovascular disease | Altered cAMP levels affect cardiac contractility and vascular tone; ADCY9 variants are associated with response to statin therapy and risk of coronary artery disease. | PMID: 21738476, ClinVar |
| Breast cancer | Dysregulated ADCY9 expression may influence cAMP-mediated signaling pathways that promote tumor growth and metastasis. | COSMIC, PMID: 25691885 |
| Major depressive disorder | ADCY9 polymorphisms linked to altered cAMP signaling in the brain, affecting mood regulation and antidepressant response. | PMID: 22968131, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 2.4 | Low |
| Kidney | 7.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression in kidney-derived cells |
| SH-SY5Y | 8.5 | Neuroblastoma cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.01% | Reduced catalytic activity; associated with altered cAMP production |
| c.567G>A (p.Val189Met) | Missense | 0.005% | Unknown functional effect; reported in cancer samples |
| c.2101_2102insA | Frameshift | <0.001% | Loss of function; truncation of protein |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein or reduce enzymatic activity, leading to decreased cAMP synthesis.
Gain of Function (GOF)
Not well characterized; rare missense variants may increase activity but evidence is limited.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported for ADCY9.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004016 - adenylate cyclase activity | • GO:0006171 - cAMP biosynthetic process |
| • GO:0005886 - plasma membrane | • GO:0016021 - integral component of membrane |
| • GO:0007189 - adenylate cyclase-activating G protein-coupled receptor signaling pathway |
Pathways
• cAMP signaling pathway (Reactome: R-HSA-382556)
• G alpha(s) signaling events (Reactome: R-HSA-418555)
• GPCR downstream signaling (Reactome: R-HSA-388396)
Protein Summary
ADCY9 is a 1353-amino acid transmembrane protein with 12 membrane-spanning domains and two cytoplasmic catalytic domains. It synthesizes cAMP from ATP in response to G protein-coupled receptor activation. The protein is widely expressed, with highest levels in brain and heart. ADCY9 activity is modulated by calcium/calmodulin and protein kinase A phosphorylation. Structural studies indicate that the catalytic domains form a dimer essential for enzymatic function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCY9 Knockout HEK293 Cell Line | EDJ-KQ1299 | Human | 115 | Details Get a Quote |
| ADCY9 Knockout A-549 Cell Line | EDJ-KQ19362 | Human | 115 | Details Get a Quote |
| ADCY9 Knockout HCT 116 Cell Line | EDJ-KQ20711 | Human | 115 | Details Get a Quote |
| ADCY9 Knockout HeLa Cell Line | EDJ-KQ20712 | Human | 115 | Details Get a Quote |
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