PSTPIP2
Proline-Serine-Threonine Phosphatase Interacting Protein 2
Gene Information Card
| Symbol | PSTPIP2 |
|---|---|
| Full Name | Proline-Serine-Threonine Phosphatase Interacting Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.1 |
| NCBI Gene ID | 9050 ncbi.nlm.nih.gov/gene/9050 |
| Ensembl ID | ENSG00000101558 |
| UniProt ID | Q9H939 |
| OMIM ID | 609496 |
| HGNC ID | 9581 |
| Aliases | MAYP, PSTPIP2 |
Description
PSTPIP2 (Proline-Serine-Threonine Phosphatase Interacting Protein 2) encodes a member of the F-BAR domain-containing protein family. The protein is involved in cytoskeletal organization, cell motility, and inflammatory signaling. It interacts with PEST-type protein tyrosine phosphatases and modulates actin dynamics. Mutations in PSTPIP2 are associated with autoinflammatory bone disorders, including chronic recurrent multifocal osteomyelitis (CRMO) and a familial Mediterranean fever-like syndrome.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic Recurrent Multifocal Osteomyelitis (CRMO) | Missense mutations (e.g., p.A230T) impair actin binding and enhance inflammasome activation, leading to IL-1β overproduction. | ClinVar, OMIM |
| Familial Mediterranean Fever-like syndrome | Gain-of-function mutations in PSTPIP2 promote pyrin inflammasome activation, causing episodic fever and serositis. | OMIM, PubMed |
| Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) syndrome | Although primarily associated with PSTPIP1, PSTPIP2 variants may modify disease severity. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone marrow | 12.5 | Medium |
| Spleen | 8.3 | Low |
| Lung | 6.1 | Low |
| Whole blood | 4.7 | Low |
| Lymph node | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Monocytes | 15.2 | Highest expression in immune cells |
| Macrophages | 12.8 | Key role in inflammatory signaling |
| Neutrophils | 10.1 | Moderate expression |
| HEK293 | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.688G>A (p.A230T) | Missense | Rare | Associated with CRMO; disrupts F-BAR domain and enhances IL-1β secretion. |
| c.449C>T (p.T150M) | Missense | Rare | Reported in autoinflammatory syndrome; functional impact unknown. |
| c.1018C>T (p.R340*) | Nonsense | Very rare | Predicted loss-of-function; may be benign. |
Mutation functional classification
Loss of Function (LOF)
p.R340* nonsense mutation likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
p.A230T missense mutation enhances inflammasome activation, consistent with gain-of-function.
Dominant Negative (DN)
No dominant-negative mutations currently documented.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • protein homodimerization activity |
| • cytoskeleton | • cell projection |
| • inflammatory response | • positive regulation of interleukin-1 beta production |
Pathways
• Pyrin inflammasome pathway
• IL-1 signaling
• Actin cytoskeleton regulation
Protein Summary
PSTPIP2 is a 347-amino acid protein containing an N-terminal F-BAR domain that mediates membrane tubulation and actin binding. It localizes to the cytoplasm and cell cortex, and interacts with PTPN18 and PTPN22. Through its regulation of the pyrin inflammasome, PSTPIP2 controls IL-1β release and is critical for maintaining immune homeostasis. Mutations that alter its function lead to autoinflammatory bone and skin disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PSTPIP2 Knockout HEK293 Cell Line | EDJ-KQ6442 | Human | 9050 | Details Get a Quote |
| PSTPIP2 Knockout HCT 116 Cell Line | EDJ-KQ29177 | Human | 9050 | Details Get a Quote |
| PSTPIP2 Knockout HeLa Cell Line | EDJ-KQ30506 | Human | 9050 | Details Get a Quote |
| PSTPIP2 Knockout A-549 Cell Line | EDJ-KQ63547 | Human | 9050 | Details Get a Quote |
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