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ADCY3

Chr 2p23.3

adenylate cyclase 3

Aliases:
AC3
MANE:
ENST00000679454.1
OMIM: 600291 ↗NCBI: 109 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Severe early-onset obesity

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

  • obesity disorder

    0.62

  • Obesity

    0.57

  • Abnormality of the skeletal system

    0.43

  • inflammatory bowel disease

    0.40

  • Crohn disease

    0.39

  • hypertensive disorder

    0.36

  • breast carcinoma

    0.35

  • smoking behavior

    0.34

  • smoking initiation

    0.33

  • autoimmune disease

    0.32

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Adenylate cyclase type 3

Catalyzes the formation of the signaling molecule cAMP in response to G protein signaling (PubMed:29311635). Participates in signaling cascades triggered by odorant receptors via its function in cAMP biosynthesis: specifically activated by G alpha protein GNAL/G(olf) in olfactory epithelium (By similarity). Mediates signaling cascades in primary cilia: specifically activated by G alpha protein GNAS/G(s) in primary cilia (PubMed:29311635). Plays a role in regulating food intake and body fat accumulation in the paraventricular nucleus of the hypothalamus (PVH) by acting downstream of MC4R activation (PubMed:29311635). Required for normal sperm motility and normal male fertility (By similarity)

Diseases associated with ADCY3

Curated MONDO disease pages that list ADCY3 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.