Gene: SH3BP2

Alternate names for this Gene: 3BP-2|3BP2|CRBM|CRPM|RES4-23

Gene Summary: The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.3

Description of this Gene: SH3 domain binding protein 2

Type of Gene: protein-coding

rs121909146 in SH3BP2 gene and Cherubism PMID 14577811 2003 The missense mutation Pro418Arg was identified in the SH3BP2 gene from a nonfamilial case of cherubism.

PMID 11381256 2001 Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.

PMID 12900899 2003 Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.

PMID 14577811 2003 A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism.

rs189139 in SH3BP2 gene and Huntington Disease PMID 22387017 2012 Common SNP-based haplotype analysis of the 4p16.3 Huntington disease gene region.

rs189139 in SH3BP2 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.