ACYP2 Gene

Name	acylphosphatase 2, muscle type
Description	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]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Acylphosphatase 2 (ACYP2) is a multifunctional enzyme that not only catalyzes the hydrolysis of acyl‐phosphate bonds but also plays important roles in intracellular calcium homeostasis, energy metabolism, and cell differentiation. Structural and biochemical studies of acylphosphatase enzymes have highlighted a conserved phosphate–binding site critical for its catalytic activity (["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "]."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Beyond its canonical enzymatic function, accumulated genetic evidence indicates that ACYP2 is a pivotal player in human disease. For instance, several germline polymorphisms in ACYP2 have been robustly linked with cisplatin‐induced ototoxicity in pediatric cancer patients, suggesting that genetic variation in ACYP2 predisposes individuals to severe adverse effects of platinum‐based chemotherapy (["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "]."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In parallel, ACYP2 genetic variants and altered expression have been associated with the susceptibility to various cancers—including breast, lung, gastric, colorectal, liver, and notably glioma—where aberrant ACYP2 levels appear to modulate malignant progression through intracellular Ca²⁺‐dependent signaling pathways and the activation of oncogenic programs such as those mediated by c‐Myc and STAT3 (["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "]). Furthermore, ACYP2 has emerged from genome‐wide association and “teloscore” studies as a candidate gene influencing telomere length, thereby indirectly affecting genomic stability and cancer risk (["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "]). In addition to its roles in tumor biology and telomere maintenance, ACYP2 polymorphisms have been implicated in non‐malignant conditions such as high‐altitude pulmonary edema, ischemic stroke, and diabetic obesity, underscoring its multifaceted impact on human physiology (["}, {"type": "fg", "children": [{"type": "fg_f", "ref": "9"}]}, {"type": "t", "text": "]). Collectively, these findings position ACYP2 as a critical mediator linking fundamental enzymatic activity with broader aspects of cellular signaling and disease susceptibility.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Jian Liu, Yu Asano, Keiko Ikoma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Purification, characterization, and primary structure of a novel N-acyl-D-amino acid amidohydrolase from Microbacterium natoriense TNJL143-2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biosci Bioeng (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jbiosc.2012.05.015"}], "href": "https://doi.org/10.1016/j.jbiosc.2012.05.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22721690"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22721690"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "A Ghetti, M Bolognesi, F Cobianchi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Modeling by homology of RNA binding domain in A1 hnRNP protein."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FEBS Lett (1990)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/0014-5793(90)80863-e"}], "href": "https://doi.org/10.1016/0014-5793(90"}, {"type": "t", "text": "80863-e) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "2176620"}], "href": "https://pubmed.ncbi.nlm.nih.gov/2176620"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "T Tamura, Y Mizuno, H Shiokawa "}, {"type": "b", "children": [{"type": "t", "text": "Chemical modification of arginine residues of porcine muscle acylphosphatase."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochim Biophys Acta (1986)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/0167-4838(86)90227-x"}], "href": "https://doi.org/10.1016/0167-4838(86"}, {"type": "t", "text": "90227-x) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "3006778"}], "href": "https://pubmed.ncbi.nlm.nih.gov/3006778"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Heng Xu, Giles W Robinson, Jie Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Common variants in ACYP2 influence susceptibility to cisplatin-induced hearing loss."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.3217"}], "href": "https://doi.org/10.1038/ng.3217"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25665007"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25665007"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Hanneke I Vos, Henk-Jan Guchelaar, Hans Gelderblom, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Replication of a genetic variant in ACYP2 associated with cisplatin-induced hearing loss in patients with osteosarcoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenet Genomics (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/FPC.0000000000000212"}], "href": "https://doi.org/10.1097/FPC.0000000000000212"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26928270"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26928270"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Signe Thiesen, Peng Yin, Andrea L Jorgensen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "TPMT, COMT and ACYP2 genetic variants in paediatric cancer patients with cisplatin-induced ototoxicity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pharmacogenet Genomics (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/FPC.0000000000000281"}], "href": "https://doi.org/10.1097/FPC.0000000000000281"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28445188"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28445188"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Mengdan Li, Banjun Ruan, Jing Wei, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ACYP2 contributes to malignant progression of glioma through promoting Ca"}, {"type": "a", "children": [{"type": "t", "text": "sup"}], "href": "sup"}, {"type": "t", "text": "2+"}, {"type": "a", "children": [{"type": "t", "text": "/sup"}], "href": "/sup"}, {"type": "t", "text": " efflux and subsequently activating c-Myc and STAT3 signals."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Clin Cancer Res (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13046-020-01607-w"}], "href": "https://doi.org/10.1186/s13046-020-01607-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32517717"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32517717"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Manuel Gentiluomo, Gabriele Capurso, Luca Morelli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetically Determined Telomere Length Is Associated with Pancreatic Neuroendocrine Neoplasms Onset."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neuroendocrinology (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000524659"}], "href": "https://doi.org/10.1159/000524659"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35472852"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35472852"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Yongjun He, Xiyang Zhang, Xun Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Telomere length-related gene ACYP2 polymorphism is associated with the risk of HAPE in Chinese Han population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Gene Med (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jgm.2896"}], "href": "https://doi.org/10.1002/jgm.2896"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27552709"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27552709"}]}]}]}
Synonyms	ACYP, ACYM
Proteins	ACYP2_HUMAN
NCBI Gene ID	98
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ACYP2 has 5,911 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 114 datasets.

Click the + buttons to view associations for ACYP2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ACYP2 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ACYP2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ACYP2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ACYP2 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ACYP2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ACYP2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ACYP2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ACYP2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ACYP2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ACYP2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ACYP2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ACYP2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ACYP2 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ACYP2 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ACYP2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ACYP2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ACYP2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ACYP2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ACYP2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ACYP2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing ACYP2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ACYP2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ACYP2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ACYP2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ACYP2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ACYP2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ACYP2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ACYP2 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of ACYP2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ACYP2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ACYP2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ACYP2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ACYP2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ACYP2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ACYP2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ACYP2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for ACYP2 protein from the curated DrugBank Drug Targets dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ACYP2 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ACYP2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ACYP2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ACYP2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.