PPT2 Gene Summary [Human]
This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene. [provided by RefSeq, Feb 2011]
Details
| Type | Protein Coding |
| Official Symbol | PPT2 |
| Official Name | palmitoyl-protein thioesterase 2 [Source:HGNC Symbol;Acc:HGNC:9326] |
| Ensembl ID | ENSG00000168452 |
| Bio databases IDs | |
| Aliases | palmitoyl-protein thioesterase 2 |
| Synonyms | 0610007M19Rik, C6orf8, G14, palmitoyl-protein thioesterase 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PPT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- thiolester hydrolase
- alpha/beta hydrolases
- Palmitoyl protein thioesterase
- enzyme
- hydrolase
- palmitoyl-(protein) hydrolase
- acyl-CoA hydrolase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- lipofuscinosis
- muscle spasm
- splenomegaly
- neurodegeneration
- experimentally-induced diabetes
- ataxia
- sarcoidosis
- COVID-19
- systemic lupus erythematosus nephritis
regulates
- acyl-coenzyme A
role in cell
- apoptosis
- number
- abnormal morphology
- cellular infiltration by
- abnormality
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- perinuclear region
- lysosome
- lysosomal compartment
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PPT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- fatty-acyl-CoA biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- lysosomal lumen
- lysosome
Molecular Function
What the gene product does at the molecular level
- thiolester hydrolase activity