Gene: SH3BP4

Alternate names for this Gene: BOG25|TTP

Gene Summary: This gene encodes a protein with 3 Asn-Pro-Phe (NPF) motifs, an SH3 domain, a PXXP motif, a bipartite nuclear targeting signal, and a tyrosine phosphorylation site. This protein is involved in cargo-specific control of clathrin-mediated endocytosis, specifically controlling the internalization of a specific protein receptor.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.2

Description of this Gene: SH3 domain binding protein 4

Type of Gene: protein-coding

rs10174126 in SH3BP4 gene and Cleft upper lip PMID 22419666 2012 Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.