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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ADCY3
adenylate cyclase 3
Chromosome 2 Β· 2p23.3
NCBI Gene: 109Ensembl: ENSG00000138031.15HGNC: HGNC:234UniProt: A0A0A0MSC1
78PubMed Papers
21Diseases
0Drugs
10Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytoplasmmembraneadenylate cyclase-activating G protein-coupled receptor signaling pathwaynegative regulation of appetiteobesityAbnormality of the skeletal systeminflammatory bowel diseaseCrohn's disease
✦AI Summary

ADCY3 encodes adenylate cyclase 3, a ciliary enzyme that catalyzes cAMP synthesis in response to G-protein coupled receptor signaling 1. In olfactory epithelium, ADCY3 is activated by the G-protein GNAL to mediate odorant receptor signaling [UniProt]. Beyond chemosensation, ADCY3 functions as a critical metabolic regulator in hypothalamic neurons, where its ciliary localization influences food intake and body weight regulation 23. ADCY3 dysfunction contributes to obesity through multiple mechanisms: genetic variants associated with increased body weight have been identified in human populations 1, while epigenetic silencing via DNA methylation promotes fat accumulation 4. In brown adipose tissue, ADCY3 generates a cold-inducible truncated isoform that negatively regulates thermogenic cAMP production, acting as a "rheostat" to prevent excessive energy dissipation 5. Sex-specific effects occur with ADCY3 dysfunction: males show increased food intake-driven adiposity and behavioral changes, while females exhibit reduced energy expenditure and anxiety-like behavior 6. Notably, ADCY3 signaling operates independently from leptin pathways in regulating fat accumulation 7. ADCY3 represents a promising anti-obesity drug target, with emerging evidence suggesting therapeutic potential through pharmacological activation or modulation of its ciliary localization 1.

Sources cited
1
ADCY3 catalyzes cAMP synthesis; genetic polymorphisms associated with obesity; suggested as anti-obesity drug target
PMID: 27256589
2
ADCY3 expression dysregulated in PCOS; involved in insulin secretion and AMPK signaling pathways
PMID: 39986273
3
ADCY3 mutation affects body weight regulation; GPR75 signaling independent of ADCY3 in HFD feeding
PMID: 39137039
4
ADCY3 is ciliary adenylyl cyclase; ciliary localization changes dynamically with age in hypothalamic feeding centers
PMID: 38334651
5
ADCY3 signaling independent of leptin in fat accumulation regulation
PMID: 39352389
6
ADCY3 SNP rs6753096 associated with body composition sensitivity to HIIT training
PMID: 39780573
7
Cold-inducible truncated ADCY3 isoform acts as rheostat limiting cAMP synthesis in brown adipose tissue
PMID: 38684889
8
ADCY3 transmembrane domain variant causes increased adiposity with sex-specific metabolic and behavioral effects
PMID: 38916175
Disease Associationsβ“˜21
obesityOpen Targets
0.62Moderate
Abnormality of the skeletal systemOpen Targets
0.48Moderate
inflammatory bowel diseaseOpen Targets
0.43Moderate
Crohn's diseaseOpen Targets
0.42Moderate
breast carcinomaOpen Targets
0.40Weak
hypertensionOpen Targets
0.40Weak
autoimmune diseaseOpen Targets
0.39Weak
psoriasisOpen Targets
0.37Weak
smoking initiationOpen Targets
0.37Weak
smoking behaviorOpen Targets
0.36Weak
metabolic syndromeOpen Targets
0.33Weak
Inguinal herniaOpen Targets
0.33Weak
hyperpituitarismOpen Targets
0.33Weak
breast cancerOpen Targets
0.33Weak
clonal hematopoiesisOpen Targets
0.31Weak
bacterial diseaseOpen Targets
0.31Weak
estrogen-receptor negative breast cancerOpen Targets
0.30Weak
estrogen-receptor positive breast cancerOpen Targets
0.30Weak
inherited obesityOpen Targets
0.30Weak
ulcerative colitisOpen Targets
0.29Weak
ObesityUniProt
Pathogenic Variants10
NM_004036.5(ADCY3):c.2267_2268del (p.Tyr756fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 756
NM_004036.5(ADCY3):c.187G>T (p.Glu63Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 63
NM_004036.5(ADCY3):c.3023_3024dup (p.Arg1009fs)Pathogenic
ADCY3-related disorder|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 1009
NM_004036.5(ADCY3):c.1235G>T (p.Arg412Leu)Likely pathogenic
Inherited obesity
β˜…β˜†β˜†β˜†2024β†’ Residue 412
NM_004036.5(ADCY3):c.2883+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_004036.5(ADCY3):c.957-1G>ALikely pathogenic
ADCY3-related disorder
β˜†β˜†β˜†β˜†2024
NM_004036.5(ADCY3):c.1723C>T (p.Arg575Ter)Likely pathogenic
ADCY3-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 575
NM_004036.5(ADCY3):c.1663-1G>ALikely pathogenic
ADCY3-related disorder
β˜†β˜†β˜†β˜†2024
NM_004036.5(ADCY3):c.1318del (p.Thr440fs)Likely pathogenic
ADCY3-related disorder
β˜†β˜†β˜†β˜†2024β†’ Residue 440
NM_004036.5(ADCY3):c.2055+1G>CLikely pathogenic
ADCY3-related disorder
β˜†β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
CALM3Protein interaction100%GNB1Protein interaction100%PROKR1Protein interaction100%CALML3Protein interaction99%CALML5Protein interaction99%CALML4Protein interaction99%
Tissue Expression6 tissues
Ovary
100%
Lung
55%
Brain
36%
Heart
35%
Bone Marrow
34%
Liver
7%
Gene Interaction Network
Click a node to explore
ADCY3CALM3GNB1PROKR1CALML3CALML5CALML4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O60266
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.69LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.57 [0.47–0.69]
RankingsWhere ADCY3 stands among ~20K protein-coding genes
  • #6,046of 20,598
    Most Researched78
  • #2,854of 5,498
    Most Pathogenic Variants10
  • #5,261of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedADCY3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Caloric restriction prevents inheritance of polycystic ovary syndrome through oocyte-mediated DNA methylation reprogramming.
PMID: 39986273
Cell Metab Β· 2025
1.00
2
Central regulation of feeding and body weight by ciliary GPR75.
PMID: 39137039
J Clin Invest Β· 2024
0.90
3
Postnatal Dynamic Ciliary ARL13B and ADCY3 Localization in the Mouse Brain.
PMID: 38334651
Cells Β· 2024
0.80
4
Ciliary localization of GPR75 promotes fat accumulation in mice.
PMID: 39352389
J Clin Invest Β· 2024
0.70
5
[Association between
PMID: 39780573
Sheng Li Xue Bao Β· 2024
0.60