ACP2 (acid phosphatase 2, lysosomal)
- symbol:
- ACP2
- locus group:
- protein-coding gene
- location:
- 11p11.2
- gene_family:
- alias symbol:
- LAP
- alias name:
- lysosomal acid phosphatase
- entrez id:
- 53
- ensembl gene id:
- ENSG00000134575
- ucsc gene id:
- uc001nei.3
- refseq accession:
- NM_001610
- hgnc_id:
- HGNC:123
- approved reserved:
- 1986-01-01
ACP2（酸性磷酸酶2，Acid Phosphatase 2）是一种溶酶体酶，属于酸性磷酸酶家族（Acid Phosphatase Family），该家族成员主要功能是催化磷酸单酯的水解反应，参与磷酸代谢。ACP2在溶酶体中高度表达，负责分解细胞内的磷酸化合物，如核苷酸、磷脂和糖磷酸酯，从而维持细胞内磷酸稳态。其表达产物是一种糖蛋白，依赖锰离子（Mn²⁺）作为辅因子发挥最佳活性。ACP2的主要作用位点是溶酶体，但也可能存在于其他酸性细胞器中。若ACP2发生功能丧失突变，可能导致溶酶体贮积症（Lysosomal Storage Disorders），例如一种罕见的神经退行性疾病——脑腱黄瘤病（Cerebrotendinous Xanthomatosis, CTX）的部分病例与ACP2缺陷相关，表现为胆固醇代谢异常和神经系统损伤。此外，ACP2表达异常还与某些癌症（如前列腺癌、乳腺癌）的进展相关，可能通过影响细胞凋亡或增殖信号通路发挥作用。若ACP2过表达，可能加剧溶酶体功能紊乱，导致细胞毒性或异常自噬；而表达降低则可能引起底物累积，引发代谢障碍。ACP2基因家族（包括ACP1、ACP3等）的共性是均含有保守的磷酸酶结构域，偏好酸性pH环境，并参与磷酸基团的移除反应。目前“酸性磷酸酶2”的中文译名较为统一，但需注意其与前列腺特异性酸性磷酸酶（PAP）等家族成员区分。研究显示，ACP2可能通过调控溶酶体功能间接影响mTOR信号通路（控制细胞生长的关键通路）或炎症因子释放，但其具体机制仍需进一步探索。
This gene encodes the beta subunit of lysosomal acid phosphatase (LAP). LAP is chemically and genetically distinct from red cell acid phosphatase. The encoded protein belongs to a family of distinct isoenzymes which hydrolyze orthophosphoric monoesters to alcohol and phosphate. LAP-deficiencies in mice cause multiple defects including bone structure alterations, lysosomal storage defects in the kidneys and central nervous system, and an increased tendency towards seizures. An enzymatically-inactive allele of LAP in mice exhibited a more severe phenotype than the null allele, and defects included cerebellum abnormalities, growth retardation, hair-follicle abnormalities, and an ataxia-like phenotype. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
Gene Ontology
Subcellular localization of ACP2 (and its protein):
- plasma membrane
- cytoplasm
- extracellular
- golgi
- vesicle
- cytoskeleton
- endoplasmic reticulum
- nucleus
- endosome
- lysosome
- mitochondrion
Gene Ontology (GO) terms for ACP2:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| 740 Riboflavin metabolism [PATH:hsa00740] |
| 4142 Lysosome [PATH:hsa04142] |
| Disease | Score | NofPmids | NofSnps | Source |
| Gomez Lopez Hernandez syndrome | 0.08 | 0 | 0 | MGD |
| Malignant neoplasm of prostate | 0.002638474 | 2 | 0 | BeFree_GAD |
| leukemia | 0.000814326 | 3 | 0 | BeFree |
| Keratoconus | 0.000814326 | 3 | 0 | BeFree |
| Juvenile Neuronal Ceroid Lipofuscinosis | 0.000271442 | 1 | 0 | BeFree |
| Chronic Periodontitis | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
| Severe Combined Immunodeficiency | 0.000271442 | 1 | 0 | BeFree |
| Acute Coronary Syndrome | 0.000271442 | 1 | 0 | BeFree |
| childhood acute promyelocytic leukemia (M3) | 0.000271442 | 1 | 0 | BeFree |
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