SH3 domain-binding protein 2; 3BP-2 (SH3BP2 3BP2 RES4-23)

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 (phosphorylation dependent)
• phosphorylation at Tyr-448 may stimulate activity of LYN kinase (putative)

Structure

• contains 1 PH domain
• contains 1 SH2 domain

Alternative splicing

named isoforms=3

Expression

• expressed in a variety of tissues including lung, liver, skeletal muscle, kidney & pancreas

Pathology

• defects in SH3BP2 are the cause of cherubism

More general terms

• SH3 domain-binding protein

Additional terms

• cherubism

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=6452
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:6452
• OMIM: https://mirror.omim.org/entry/118400
• OMIM: https://mirror.omim.org/entry/602104
• UniProt: http://www.uniprot.org/uniprot/P78314.html