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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PSTPIP2
proline-serine-threonine phosphatase interacting protein 2
Chromosome 18 · 18q21.1|tdb7990
NCBI Gene: 9050Ensembl: ENSG00000152229.19HGNC: HGNC:9581UniProt: A0A0S2Z4R2
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmplasma membranecytosolcytoskeletonneurodegenerative diseaseparasitic infectionchilblain lupusdiabetes mellitus
✦AI Summary

PSTPIP2 (proline-serine-threonine phosphatase interacting protein 2) is an F-BAR domain family protein that functions as a critical regulator of innate immune responses and inflammatory processes 1. The protein exhibits F-actin binding activity and participates in membrane-cytoskeleton interactions, playing key roles in macrophage activation, neutrophil migration, and cytokine production 1. PSTPIP2 acts as an anti-inflammatory mediator primarily through inhibition of IL-1β production and NF-κB pathway activation 23. Loss-of-function mutations in PSTPIP2, such as the Leu98Pro mutation in murine models, lead to autoinflammatory diseases characterized by chr18 multifocal osteomyelitis resembling human chr18 recurrent multifocal osteomyelitis 45. The protein regulates neutrophil NADPH oxidase activity, with PSTPIP2 deficiency causing elevated superoxide production and bone destruction 6. Disease manifestation involves IL-1β-mediated inflammation processed by both caspase-1 and caspase-8, and is influenced by intestinal microbiota composition 5. PSTPIP2 also regulates neutrophil extracellular trap formation through IL-19/NF-κB pathways, impacting kidney injury in aristolochic acid nephropathy 7. Low PSTPIP2 expression correlates with disease severity in sepsis patients, highlighting its clinical significance as a potential therapeutic target for autoinflammatory disorders 31.

Sources cited
1
PSTPIP2 belongs to F-BAR domain family and participates in macrophage activation, neutrophil migration, and cytokine production
PMID: 34262554
2
PSTPIP2 plays inhibitory role in immune diseases through mechanisms including inhibiting IL-1β inflammatory responses and NF-κB
PMID: 39660128
3
PSTPIP2 has anti-inflammatory effects and low expression correlates with disease severity in sepsis patients
PMID: 37695226
4
Leu98Pro mutation in Pstpip2 leads to autoinflammatory osteomyelitis mediated by IL-1β
PMID: 27148834
5
PSTPIP2 mutation causes osteomyelitis resembling human chronic recurrent multifocal osteomyelitis, with disease influenced by intestinal microbiota
PMID: 25274309
6
PSTPIP2 negatively regulates neutrophil NADPH oxidase pathways and bone destruction
PMID: 32024700
7
PSTPIP2 regulates neutrophil extracellular trap formation through IL-19/NF-κB pathways in kidney injury
PMID: 38314821
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.37Weak
parasitic infectionOpen Targets
0.21Weak
chilblain lupusOpen Targets
0.07Suggestive
diabetes mellitusOpen Targets
0.06Suggestive
Balkan nephropathyOpen Targets
0.06Suggestive
acute kidney injuryOpen Targets
0.05Suggestive
IgA pemphigusOpen Targets
0.05Suggestive
epidermolytic palmoplantar keratoderma, 1Open Targets
0.05Suggestive
lamellar ichthyosisOpen Targets
0.05Suggestive
cutaneous lupus erythematosusOpen Targets
0.05Suggestive
diffuse nonepidermolytic palmoplantar keratodermaOpen Targets
0.05Suggestive
dystrophic epidermolysis bullosa pruriginosaOpen Targets
0.05Suggestive
hypotrichosis simplex of the scalpOpen Targets
0.05Suggestive
erythrokeratodermia variabilisOpen Targets
0.05Suggestive
rheumatoid arthritisOpen Targets
0.04Suggestive
Chronic mucocutaneous candidosisOpen Targets
0.04Suggestive
immunodeficiency 51Open Targets
0.04Suggestive
congenital non-bullous ichthyosiform erythrodermaOpen Targets
0.04Suggestive
mal de MeledaOpen Targets
0.04Suggestive
pemphigus foliaceusOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PTPN12Protein interaction89%LPXNProtein interaction86%TNFRSF11AProtein interaction76%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
82%
Liver
40%
Ovary
20%
Brain
12%
Heart
6%
Gene Interaction Network
Click a node to explore
PSTPIP2PTPN12LPXNTNFRSF11A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9H939
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.78LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.42–0.78]
RankingsWhere PSTPIP2 stands among ~20K protein-coding genes
  • #10,676of 20,598
    Most Researched37
  • #6,387of 17,882
    Most Constrained (LOEUF)0.78
Genes detectedPSTPIP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autoinflammatory bone disorders.
PMID: 17762617
Curr Opin Rheumatol · 2007
1.00
2
Advances of the multifaceted functions of PSTPIP2 in inflammatory diseases.
PMID: 39660128
Front Immunol · 2024
0.90
3
Role of the F-BAR Family Member PSTPIP2 in Autoinflammatory Diseases.
PMID: 34262554
Front Immunol · 2021
0.80
4
Microbiota and caspase-1/caspase-8 regulate IL-1β-mediated bone disease.
PMID: 27148834
Gut Microbes · 2016
0.70
5
PSTPIP2 is associated with disease severity in patients with pressure ulcer sepsis and has anti-inflammatory effects.
PMID: 37695226
Allergol Immunopathol (Madr) · 2023
0.60