Gene: ACYP2

Alternate names for this Gene: ACYM|ACYP

Gene Summary: 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.2

Description of this Gene: acylphosphatase 2

Type of Gene: protein-coding

rs9808326 in ACYP2 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs55930424 in ACYP2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1075265 in ACYP2 gene and Circadian Rhythms PMID 27494321 2016 Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci.

PMID 28604731 2017 Genome-wide association analysis of insomnia complaints identifies risk genes and genetic overlap with psychiatric and metabolic traits.

rs1559040 in ACYP2 gene and Sudden Cardiac Arrest PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.

rs1559040 in ACYP2 gene and Sudden Cardiac Death PMID 21658281 2011 GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.