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FLASH GENE
Symbol PSTPIP2 contributors: mct - updated : 14-01-2015
HGNC name proline-serine-threonine phosphatase interacting protein 2
HGNC id 9581
ASSOCIATED DISORDERS
corresponding disease(s) CRMO
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein 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)