PPT2 Gene: Palmitoyl-Protein Thioesterase 2
Comprehensive gene information for PPT2, including function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | PPT2 |
|---|---|
| Full Name | Palmitoyl-Protein Thioesterase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 9374 ncbi.nlm.nih.gov/gene/9374 |
| Ensembl ID | ENSG00000112378 |
| UniProt ID | Q9UMR5 |
| OMIM ID | 603298 |
| HGNC ID | 9326 |
| Aliases | PPT-2, G14, CLN1-related |
Description
PPT2 encodes palmitoyl-protein thioesterase 2, a lysosomal enzyme that removes long-chain fatty acids from modified cysteine residues in proteins. It is involved in the degradation of palmitoylated proteins and is related to the CLN1 gene (PPT1). Mutations in PPT2 are associated with a rare form of neuronal ceroid lipofuscinosis (NCL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuronal Ceroid Lipofuscinosis (NCL) | Loss-of-function mutations in PPT2 lead to accumulation of palmitoylated proteins in lysosomes, causing neurodegeneration. | ClinVar, OMIM |
| PPT2-related disorder | Biallelic PPT2 variants result in a CLN1-like phenotype with progressive neurological decline. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 6.1 | Low |
| Heart | 4.7 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| SH-SY5Y | 14.1 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.200T>C (p.Leu67Pro) | Missense | Rare | Likely damaging, reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Most PPT2 mutations are loss-of-function, leading to reduced thioesterase activity and 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)
| • palmitoyl-(protein) hydrolase activity (GO:0008474) | • lysosome (GO:0005764) |
| • protein depalmitoylation (GO:0006686) | • hydrolase activity (GO:0016787) |
Pathways
• Lysosomal degradation of palmitoylated proteins
• Neuronal ceroid lipofuscinosis pathway
Protein Summary
Palmitoyl-protein thioesterase 2 (PPT2) is a 302-amino acid lysosomal enzyme that catalyzes the hydrolysis of palmitate from modified cysteine residues in proteins. It shares structural similarity with PPT1 but has distinct substrate specificity. Deficiency leads to lysosomal accumulation of palmitoylated proteins, causing neurodegeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PPT2 Knockout HEK293 Cell Line | EDJ-KQ50866 | Human | 9374 | Details Get a Quote |
| PPT2 Knockout HeLa Cell Line | EDJ-KQ55144 | Human | 9374 | Details Get a Quote |
| PPT2 Knockout A-549 Cell Line | EDJ-KQ63623 | Human | 9374 | Details Get a Quote |
| PPT2 Knockout HCT 116 Cell Line | EDJ-KQ72088 | Human | 9374 | Details Get a Quote |
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