ACYP2

Chr 2

acylphosphatase 2

Also known as: ACYM, ACYP

Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.84
LOEUF
DN
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?
1.84LOEUF
pLI 0.000
Z-score -0.21
OE 1.10 (0.591.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.51Z-score
OE missense 1.20 (0.981.48)
63 obs / 52.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.10 (0.591.84)
00.351.4
Missense OE?1.20 (0.981.48)
00.61.4
Synonymous OE?1.29
01.21.6
LoF obs/exp: 6 / 5.5Missense obs/exp: 63 / 52.5Syn Z: -0.95

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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