ACYP2: Acylphosphatase 2, Muscle Type
Gene encoding a small cytosolic enzyme involved in energy metabolism and calcium signaling, with implications in muscle function and cancer.
Gene Information Card
| Symbol | ACYP2 |
|---|---|
| Full Name | Acylphosphatase 2, Muscle Type |
| Gene Type | Protein coding |
| Chromosomal Location | 2p16.2 |
| NCBI Gene ID | 98 ncbi.nlm.nih.gov/gene/98 |
| Ensembl ID | ENSG00000115970 |
| UniProt ID | P14621 |
| OMIM ID | 102870 |
| HGNC ID | 180 |
| Aliases | ACYP, ACYP-2, acylphosphatase, muscle type |
Description
ACYP2 encodes acylphosphatase 2, a small cytosolic enzyme that catalyzes the hydrolysis of acylphosphates, such as 1,3-bisphosphoglycerate and succinyl-CoA, and modulates calcium pump activity in muscle. It is involved in energy metabolism and calcium signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect energy metabolism and apoptosis; mutations observed in tumor samples. | COSMIC |
| Breast cancer | Differential expression and somatic mutations reported in breast cancer tissues. | COSMIC |
| Muscle atrophy | Potential role in calcium dysregulation and metabolic stress. | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Brain | 3.1 | Low |
| Liver | 1.2 | Low |
| Kidney | 2.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 4.5 | Cervical cancer cell line |
| HepG2 | 2.8 | Hepatocellular carcinoma |
| K562 | 1.9 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gly4Arg | Missense | <0.1% | Unknown functional impact |
| p.Val94Met | Missense | <0.1% | Unknown functional impact |
| c.123+1G>A | Splice site | <0.1% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Splice site mutations (e.g., c.123+1G>A) predicted to disrupt protein production.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • acylphosphatase activity | • hydrolase activity |
| • calcium ion binding | • cytoplasm |
| • muscle contraction |
Pathways
• Glycolysis / Gluconeogenesis
• Calcium signaling pathway
Protein Summary
Acylphosphatase 2 is a 99-amino-acid protein that catalyzes the hydrolysis of acylphosphates, regulating glycolytic flux and calcium homeostasis in muscle cells. It is highly expressed in skeletal and cardiac muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACYP2 Knockout HEK293 Cell Line | EDJ-KQ4005 | Human | 98 | Details Get a Quote |
| ACYP2 Knockout HCT 116 Cell Line | EDJ-KQ24986 | Human | 98 | Details Get a Quote |
| ACYP2 Knockout A-549 Cell Line | EDJ-KQ26327 | Human | 98 | Details Get a Quote |
| ACYP2 Knockout HeLa Cell Line | EDJ-KQ26328 | Human | 98 | Details Get a Quote |
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