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Rabbit Anti-phospho-SH3BP2 (Ser427) antibody
The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a SLCterminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Function:
Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism.
Tissue Specificity:
Expressed in a variety of tissues including lung, liver, skeletal muscle, kidney and pancreas.
DISEASE:
Defects in SH3BP2 are the cause of cherubism (CRBM) [MIM:111680]. CRBM is an autosomal dominant inherited syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.
Similarity:
Contains 1 PH domain.
Contains 1 SH2 domain.
SWISS:
P78314
Gene ID:
6452
Database links:
Entrez Gene: 6452 Human
Omim: 602104 Human
SwissProt: P78314 Human
Unigene: 167679 Human
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