Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

PSTPIP2

contributors: mct - updated : 14-01-2015

HGNC name	proline-serine-threonine phosphatase interacting protein 2
HGNC id	9581

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CRMO chronic recurrent multifocal osteomyelitis
Location	18q12.3      Physical location : 43.563.502 - 43.652.250
Synonym name	PEST phosphatase-interacting protein 2
	macrophage actin-associated protein
Synonym symbol(s)	MAYP, MGC34175, p37

DNA

TYPE	functioning gene
STRUCTURE	88.75 kb     15 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_024430 15 - 3054 NP_077748 38 334 - 1998 9804836

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune spleen       highly Reproductive male system testis

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune macrophage

cell lineage
cell lines	macrophage cell lines BAC1.2F5 and J774.2
fluid/secretion	moderately in blood

at STAGE

physiological period

fetal

Text	predominantly in umbilical cord

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a Fes/CIP4 homology domain
	a coiled-coil domain
	two potential SH3 binding sites
	a proline-rich region

conjugated

PhosphoP

mono polymer

homomer , oligo

HOMOLOGY

interspecies

homolog to murine Pstpip2 (89.9 pc)

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton
text	peripheral membrane protein

basic FUNCTION

major F-actin-associated protein that is tyrosine-phosphorylated in macrophages and is likely to play a role in regulating the CSF1-induced reorganization of the actin cytoskeleton

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

phosphorylated on tyrosine

INTERACTION

DNA

RNA

small molecule

protein	binds a PEST-type protein tyrosine phosphatase
	associates directly or indirectly with actin
	acts as a negative feedback regulator of CSF1R signaling to suppress inflammation and osteoclastogenesis
	assembly of FNBP1 on the plasma membranes is antagonized by PSTPIP2, another F-BAR protein implicated in auto-inflammatory disorder
	inhibits actin polymerization by competing with FNBP1 for assembly at artificial as well as the plasma membrane
	is a negative regulator of CASP1-autonomous IL1B production
	assembly of FNBP1 is dependent on WAS, and its dissociation by WAS inhibition strongly induces a self-organization of PSTPIP2 at podosomes
	is a GATA1-repressed gene that controls megakaryopoiesis
	PSTPIP2 interacted with LYN and the expression of a dominant negative LYN (LYN DN) overwhelmed the inhibitory effect of PSTPIP2 on differentiation and ERK signaling

cell & other

REGULATION

Other

phosphorylated on tyrosine

ASSOCIATED DISORDERS

corresponding disease(s)

CRMO

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --other   dysregulation of PSTPIP2 due to GATA-1 deficiency may contribute to abnormal megakaryocyte proliferation and differentiation in pathogenesis of related diseases

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Missense mutation (L98P) of Pstpip2 in mice leads to a disease that is phenotypically similar to Chronic recurrent multifocal osteomyelitis (CRMO) called chronic multifocal osteomyelitis (cmo)