SH3PXD2B
Domain
The PX domain is required for podosome localization because of its ability to bind phosphatidylinositol 3-phosphate (PtdIns(3)P) and phosphatidylinositol 3,4-bisphosphate (PtdIns(3,4)P2) and, to a lesser extent, phosphatidylinositol 4-phosphate (PtdIns(4)P), phosphatidylinositol 5-phosphate (PtdIns(5)P), and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2). Binds to the third intramolecular SH3 domain (By similarity).
Function
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).
Involvement in disease
Frank-Ter Haar syndrome
FTHS
A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated in SRC-transformed cells.
Sequence Similarities
Belongs to the SH3PXD2 family.
Tissue Specificity
Expressed in fibroblasts.
Cellular localization
- Cytoplasm
- Cell projection
- Podosome
- Cytoplasmic in normal cells and localizes to podosomes in SRC-transformed cells.
Alternative names
FAD49, KIAA1295, TKS4, SH3PXD2B, SH3 and PX domain-containing protein 2B, Adapter protein HOFI, Factor for adipocyte differentiation 49, Tyrosine kinase substrate with four SH3 domains