ACP2: Acid Phosphatase 2, Lysosomal
A lysosomal acid phosphatase involved in bone resorption and lysosomal function
Gene Information Card
| Symbol | ACP2 |
|---|---|
| Full Name | Acid Phosphatase 2, Lysosomal |
| Gene Type | protein-coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 53 ncbi.nlm.nih.gov/gene/53 |
| Ensembl ID | ENSG00000134575 |
| UniProt ID | P11117 |
| OMIM ID | 171650 |
| HGNC ID | 123 |
| Aliases | LAP, ACP-2 |
Description
ACP2 encodes lysosomal acid phosphatase (LAP), a glycoprotein enzyme that hydrolyzes phosphate esters under acidic conditions. It is involved in lysosomal degradation, bone resorption, and cellular metabolism. Deficiency leads to lysosomal storage abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lysosomal storage disease (ACP2 deficiency) | Loss of lysosomal acid phosphatase activity impairs dephosphorylation of lysosomal substrates, leading to accumulation of phosphorylated compounds. | OMIM #171650; case reports of patients with ACP2 mutations and lysosomal dysfunction. |
| Bone resorption disorders | ACP2 is expressed in osteoclasts; altered activity may affect bone remodeling. | NCBI Gene; expression data in osteoclasts. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Medium |
| Liver | 6.1 | Low |
| Kidney | 5.4 | Low |
| Lung | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression in transfected cells |
| HeLa | 9.8 | Moderate expression |
| K562 | 7.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Reduced enzyme activity |
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Impaired lysosomal targeting |
| c.442delC | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish enzymatic activity, leading to lysosomal storage.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • acid phosphatase activity | • lysosome |
| • dephosphorylation | • phosphate-containing compound metabolic process |
Pathways
• Lysosome (KEGG: hsa04142)
• Phosphatase activity
Protein Summary
Lysosomal acid phosphatase (LAP) is a 423-amino acid glycoprotein that functions as a homodimer. It is targeted to lysosomes via mannose-6-phosphate receptors. The enzyme optimally hydrolyzes phosphate esters at pH 4–5 and is essential for lysosomal degradation of phosphorylated metabolites.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ACP2 Knockout HEK293 Cell Line | EDJ-KQ3423 | Human | 53 | Details Get a Quote |
| ACP2 Knockout A-549 Cell Line | EDJ-KQ25138 | Human | 53 | Details Get a Quote |
| ACP2 Knockout HCT 116 Cell Line | EDJ-KQ25139 | Human | 53 | Details Get a Quote |
| ACP2 Knockout HeLa Cell Line | EDJ-KQ25140 | Human | 53 | Details Get a Quote |
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