ADCY2: Adenylate Cyclase 2
Key regulator of cAMP signaling in the brain and other tissues
Gene Information Card
| Symbol | ADCY2 |
|---|---|
| Full Name | Adenylate Cyclase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5p15.31 |
| NCBI Gene ID | 108 ncbi.nlm.nih.gov/gene/108 |
| Ensembl ID | ENSG00000113595 |
| UniProt ID | Q08462 |
| OMIM ID | 103073 |
| HGNC ID | 233 |
| Aliases | AC2, AC-II, ADCY2 |
Description
ADCY2 encodes adenylate cyclase 2, a membrane-bound enzyme that catalyzes the conversion of ATP to cyclic AMP (cAMP), a key second messenger. It is highly expressed in the brain and involved in neuronal signaling, synaptic plasticity, and regulation of mood and cognition. Variants in ADCY2 have been associated with bipolar disorder and other psychiatric conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bipolar disorder | Altered cAMP signaling affecting neuronal excitability and neurotransmitter release | ClinVar, OMIM |
| Major depressive disorder | Dysregulation of adenylate cyclase activity in limbic system | ClinVar |
| Schizophrenia | Genetic association with risk variants in ADCY2 | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 25.3 | High |
| Brain (cerebellum) | 18.7 | Medium |
| Heart | 6.2 | Low |
| Lung | 4.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 12.8 | Neuronal model |
| HEK293 (embryonic kidney) | 3.4 | Low expression |
| U-87 MG (glioblastoma) | 9.1 | Glial model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2230739 | SNP | 0.15 (global) | Intronic variant; associated with bipolar disorder risk |
| c.2141G>A (p.Arg714His) | Missense | Rare | Reduced catalytic activity; potential loss-of-function |
| c.307C>T (p.Arg103Trp) | Missense | Rare | Altered protein stability; reported in psychiatric cohorts |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg714His) reduce cAMP production, impairing neuronal signaling.
Gain of Function (GOF)
Not well documented; no common gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects in current literature.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004016 (adenylate cyclase activity) | • GO:0006171 (cAMP biosynthetic process) |
| • GO:0005886 (plasma membrane) | • GO:0007189 (adenylate cyclase-activating G protein-coupled receptor signaling pathway) |
| • GO:0048167 (regulation of synaptic plasticity) |
Pathways
• cAMP signaling pathway (Reactome: R-HSA-382556)
• G alpha(s) signaling events (Reactome: R-HSA-418555)
• Dopamine-DARPP32 feedback in cAMP signaling (Reactome: R-HSA-389661)
Protein Summary
Adenylate cyclase 2 is a 1090-amino acid transmembrane protein with 12 membrane-spanning domains and two cytoplasmic catalytic domains. It is activated by G protein alpha subunits (Gs) and inhibited by Gi/o, and is modulated by calcium/calmodulin. ADCY2 plays a critical role in neuronal cAMP signaling, influencing mood, cognition, and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCY2 Knockout HEK293 Cell Line | EDJ-KQ1293 | Human | 108 | Details Get a Quote |
| ADCY2 Knockout HeLa Cell Line | EDJ-KQ52550 | Human | 108 | Details Get a Quote |
| ADCY2 Knockout A-549 Cell Line | EDJ-KQ61032 | Human | 108 | Details Get a Quote |
| ADCY2 Knockout HCT 116 Cell Line | EDJ-KQ69508 | Human | 108 | Details Get a Quote |
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