ACYP2
Chr 2acylphosphatase 2
Also known as: ACYM, ACYP
Acylphosphatase-2 hydrolyzes phosphoenzyme intermediates of membrane pumps, particularly the Ca2+/Mg2+-ATPase in skeletal muscle sarcoplasmic reticulum, with increased expression during muscle differentiation. This gene is extremely tolerant to loss-of-function variants in the general population, but specific disease associations and inheritance patterns have not been established in the provided data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
137 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 9 | 0 | 9 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 91 | 7 | 0 | 98 |
Likely Benign | 0 | 5 | 5 | 2 | 12 |
Benign | 0 | 6 | 3 | 4 | 13 |
| Total | 0 | 102 | 25 | 6 | 133 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ACYP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools