PSTPIP2

Proline-serine-threonine phosphatase-interacting protein 2 is an enzyme that in humans is encoded by the PSTPIP2 gene.^[4][5] This protein, also known as macrophage F-actin-associated and tyrosine phosphorylated protein (MAYP) is a member of the Pombe Cdc15 homology (PCH) family of proteins has been shown to coordinate membrane and cytoskeletal dynamics ^[6]

PSTPIP2
Identifiers
Aliases	PSTPIP2, MAYP, proline-serine-threonine phosphatase interacting protein 2
External IDs	OMIM: 616046; MGI: 1335088; HomoloGene: 69150; GeneCards: PSTPIP2; OMA:PSTPIP2 - orthologs
Gene location (Human) Chr. Chromosome 18 (human)[1] Band 18q21.1|tdb7990 Start 45,983,536 bp[1] End 46,072,272 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in spleen monocyte granulocyte bone marrow blood muscle of thigh trabecular bone bone marrow cells gastrocnemius muscle biceps brachii n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function actin binding cytoskeletal protein binding actin filament binding Cellular component cytoplasm cytosol cytoskeleton membrane actin filament plasma membrane Biological process cell migration cytoskeleton organization actin filament polymerization Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 9050 19201 Ensembl ENSG00000152229 ENSMUSG00000025429 UniProt Q9H939 Q99M15 RefSeq (mRNA) NM_024430 NM_013831 NM_177831 RefSeq (protein) NP_077748 NP_038859 Location (UCSC) Chr 18: 45.98 – 46.07 Mb n/a PubMed search [2] [3]
Wikidata
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Function

Pstpip2 is selectively expressed in macrophages and macrophage precursors,^[7][8] and it is an actin bundling protein which regulates filopodia formation and macrophage motility^[9]

Cytokine expression profile

PSTPIP2 deficiency leads to elevated levels of circulating inflammatory mediators in vivo. In asymptomatic mice, only MIP-1α and IL-6 are elevated, however symptomatic PSTPIP2-deficient mice have elevated levels of circulating IL-6, MIP-1α, TNF-α, CSF-1 and IP-10^[10] and decreased levels of IL-13^[11][12]

Disease linkage

The missense mutation I282N leads to a macrophage-mediated autoinflammatory disease called Lupo Pstpip2 (Pstpip2^Lupo/Lupo ). It is characterized by skin necrosis, inflammation of paws, ears and inflammatory bone resorption.^[8] Another mutation in Pstpip2, L98P, was described in chronic multifocal osteomyelitis (cmo) mice. This disease is also autoinflammatory, and causes inflammatory infiltrate of polymorphonuclear leukocytes, macrophages, lymphocytes, plasma cells and osteoclasts. Later the infiltrate is replaced with new bone tissue which lead to tail kinks and hind-foot deformities. The cmo mice also develop ear inflammation in the epidermis, dermis and cartilage.^[13]

Interactions

PSTPIP2 interacts with protein tyrosine phosphatases from the proline-, glutamic acid-, serine- and threonine-rich (PEST) family,^[14] SHIP1 and Csk^[15]