ADCY3

Chr 2

adenylate cyclase 3

Also known as: AC-III, AC3, BMIQ19

This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtObesity
1
Active trials
35
Pubs (1 yr)
P/LP submissions
P/LP missense
0.68
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.000
Z-score 3.47
OE 0.49 (0.360.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.57Z-score
OE missense 0.73 (0.680.79)
541 obs / 737.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.49 (0.360.68)
00.351.4
Missense OE?0.73 (0.680.79)
00.61.4
Synonymous OE?1.07
01.21.6
LoF obs/exp: 27 / 54.7Missense obs/exp: 541 / 737.6Syn Z: -0.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADCY3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.