ADCY7: Adenylate Cyclase 7 - Key Regulator of cAMP Signaling
Comprehensive genomic and functional analysis of ADCY7, a membrane-bound adenylate cyclase implicated in immune function and hematological disorders.
Gene Information Card
| Symbol | ADCY7 |
|---|---|
| Full Name | Adenylate Cyclase 7 |
| Gene Type | Protein-coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 113 ncbi.nlm.nih.gov/gene/113 |
| Ensembl ID | ENSG00000121281 |
| UniProt ID | P51828 |
| OMIM ID | 600385 |
| HGNC ID | 237 |
| Aliases | AC7, KIAA0037 |
Description
ADCY7 encodes adenylate cyclase 7, a membrane-bound enzyme that catalyzes the conversion of ATP to cyclic AMP (cAMP), a critical second messenger in signal transduction pathways. ADCY7 is predominantly expressed in hematopoietic cells and plays a key role in immune regulation, platelet function, and neuronal signaling. Mutations in ADCY7 have been associated with B-cell lymphomas and immune dysregulation disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| B-cell lymphoma | Altered cAMP signaling due to ADCY7 mutations may promote lymphomagenesis by disrupting B-cell proliferation and apoptosis. | PMID: 25691885; COSMIC |
| Immunodeficiency | Loss-of-function variants in ADCY7 impair cAMP-dependent immune cell activation, leading to recurrent infections. | PMID: 31073079; ClinVar |
| Platelet dysfunction | ADCY7 deficiency reduces cAMP levels in platelets, enhancing aggregation and thrombotic risk. | PMID: 29728395 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.5 | Medium |
| Lymph node | 10.8 | Medium |
| Whole blood | 8.2 | Low |
| Brain (cerebellum) | 6.1 | Low |
| Lung | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| Raji (B-cell lymphoma) | 14.7 | High expression |
| HEK 293 (embryonic kidney) | 2.1 | Low expression |
| HepG2 (liver) | 1.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2125C>T (p.Arg709Trp) | Missense | 0.02% (gnomAD) | Reduced catalytic activity; associated with B-cell lymphoma |
| c.3010G>A (p.Gly1004Ser) | Missense | 0.01% (gnomAD) | Impaired cAMP production; linked to immunodeficiency |
| c.1234_1235insA (p.Thr412Asnfs*5) | Frameshift | <0.01% | Loss of function; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that reduce or abolish adenylate cyclase activity, leading to decreased cAMP levels and impaired immune signaling.
Gain of Function (GOF)
Not reported for ADCY7; gain-of-function mutations are rare in this gene.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for ADCY7.
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 (KEGG: hsa04024)
• G protein-coupled receptor signaling (Reactome: R-HSA-372790)
• Platelet activation (KEGG: hsa04611)
Protein Summary
ADCY7 encodes a 1,084-amino-acid protein with a molecular weight of approximately 123 kDa. It belongs to the adenylate cyclase family and contains two transmembrane domains and two catalytic domains. The protein is activated by G protein-coupled receptors via Gs alpha subunits and inhibited by Gi alpha subunits. ADCY7 is highly expressed in hematopoietic tissues and is essential for cAMP-mediated signaling in immune cells.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADCY7 Knockout HEK293 Cell Line | EDJ-KQ1297 | Human | 113 | Details Get a Quote |
| ADCY7 Knockout A-549 Cell Line | EDJ-KQ20707 | Human | 113 | Details Get a Quote |
| ADCY7 Knockout HCT 116 Cell Line | EDJ-KQ20708 | Human | 113 | Details Get a Quote |
| ADCY7 Knockout HeLa Cell Line | EDJ-KQ20709 | Human | 113 | Details Get a Quote |
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