Aliases for SH3PXD2B Gene
External Ids for SH3PXD2B Gene
Previous HGNC Symbols for SH3PXD2B Gene
Previous GeneCards Identifiers for SH3PXD2B Gene
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]
GeneCards Summary for SH3PXD2B Gene
SH3PXD2B (SH3 And PX Domains 2B) is a Protein Coding gene. Diseases associated with SH3PXD2B include frank-ter haar syndrome and borrone di rocco crovato syndrome. GO annotations related to this gene include phosphatidylinositol binding and phosphatidylinositol-3-phosphate binding. An important paralog of this gene is SH3PXD2A.
UniProtKB/Swiss-Prot for SH3PXD2B Gene
Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity).