Sh3pxd2b [Search on AGR]
Homo sapiens This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Sh3pxd2b [Search on AGR]
Rattus norvegicus Predicted to enable SH2 domain binding activity; phosphatidylinositol phosphate binding activity; and superoxide-generating NADPH oxidase activator activity. Predicted to be involved in several processes, including osteoblast fate commitment; podosome assembly; and skeletal system development. Predicted to be located in podosome. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Frank-Ter Haar syndrome. Orthologous to human SH3PXD2B (SH3 and PX domains 2B); INTERACTS WITH (+)-schisandrin B; 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol.