LONP2
Lon Peptidase 2, Peroxisomal
Gene Information Card
| Symbol | LONP2 |
|---|---|
| Full Name | Lon Peptidase 2, Peroxisomal |
| Gene Type | protein-coding |
| Chromosomal Location | 16q12.1 |
| NCBI Gene ID | 83752 ncbi.nlm.nih.gov/gene/83752 |
| Ensembl ID | ENSG00000102910 |
| UniProt ID | Q86WA8 |
| OMIM ID | 609127 |
| HGNC ID | 18590 |
| Aliases | LONP, LONP2, LONP2_HUMAN, LONP2, peroxisomal lon protease |
Description
LONP2 encodes a peroxisomal ATP-dependent serine protease that degrades misfolded or damaged proteins within the peroxisome. It also plays a role in peroxisome biogenesis and quality control. The protein is localized to the peroxisomal matrix and is essential for maintaining peroxisomal homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Peroxisome biogenesis disorder | Loss of LONP2 function leads to impaired peroxisomal protein quality control and accumulation of damaged proteins, contributing to peroxisomal dysfunction. | ClinVar, OMIM |
| Zellweger syndrome spectrum | Defects in peroxisomal proteostasis due to LONP2 mutations may exacerbate or phenocopy aspects of Zellweger syndrome. | OMIM, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Testis | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Hepatocellular carcinoma cell line |
| HEK293 | 7.5 | Embryonic kidney cells |
| HeLa | 5.9 | Cervical cancer cells |
| K562 | 4.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | <0.01% | Loss of function; truncated protein |
| c.1523G>A (p.Arg508Gln) | Missense | <0.01% | Reduced protease activity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the catalytic domain lead to loss of protease activity.
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)
| • ATP binding | • serine-type endopeptidase activity |
| • peroxisomal matrix | • protein quality control |
| • proteolysis |
Pathways
• Peroxisomal protein import
• Peroxisome biogenesis
• Protein degradation in peroxisomes
Protein Summary
LONP2 is a 958-amino acid ATP-dependent serine protease localized to the peroxisomal matrix. It contains an N-terminal mitochondrial/ peroxisomal targeting signal, an AAA+ ATPase domain, and a C-terminal protease domain. The protein forms a hexameric ring structure and degrades misfolded or oxidatively damaged proteins, thereby maintaining peroxisomal protein homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LONP2 Knockout HEK293 Cell Line | EDJ-KQ9899 | Human | 83752 | Details Get a Quote |
| LONP2 Knockout A-549 Cell Line | EDJ-KQ36783 | Human | 83752 | Details Get a Quote |
| LONP2 Knockout HCT 116 Cell Line | EDJ-KQ36784 | Human | 83752 | Details Get a Quote |
| LONP2 Knockout HeLa Cell Line | EDJ-KQ36785 | Human | 83752 | Details Get a Quote |
