ADCY10

Chr 1

adenylate cyclase 10

Also known as: HCA2, HEL-S-7a, SAC, SACI, Sacy, hsAC

The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtHypercalciuria absorptive 2
0
Active trials
18
Pubs (1 yr)
P/LP submissions
P/LP missense
1.03
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?
1.03LOEUF
pLI 0.000
Z-score 1.29
OE 0.85 (0.701.03)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.46Z-score
OE missense 0.96 (0.901.01)
788 obs / 824.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.701.03)
00.351.4
Missense OE?0.96 (0.901.01)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 69 / 81.5Missense obs/exp: 788 / 824.8Syn Z: -0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ADCY10 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →