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FLASH GENE

Symbol

SH3BP2

contributors: mct/npt - updated : 04-11-2015

HGNC name	SH3-domain binding protein 2
HGNC id	10825

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CRBM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     in bladder carcinoma constitutional     --over   was sufficient to induce osteoclast formation (even in the absence of RANKL) and elevated TNF secretion in macrophages, two critical features of the cherubism phenotype

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed immunology inflammatory   therapeutic target in mast cell-mediated inflammatory diseases and deregulated KIT disorders osteoarticular bone   is a potential target for suppression of pathologic bone resorption

ANIMAL & CELL MODELS

Sh3bp2-/- mice developed osteoporosis as a result of reduced bone formation despite the fact that bone resorption was impaired