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]
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).
Subcellular Location:
Cytoplasm. Cell projection > podosome. Cytoplasmic in normal cells and localizes to podosomes in SRSLCtransformed cells.
Tissue Specificity:
Expressed in fibroblasts.
Post-translational modifications:
Phosphorylated in SRSLCtransformed cells.
DISEASE:
Defects in SH3PXD2B are the cause of Frank-Ter Haar syndrome (FTHS) [MIM:249420]. It is 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.
Similarity:
Belongs to the SH3PXD2 family.
Contains 1 PX (phox homology) domain.
Contains 4 SH3 domains.
SWISS:
A1X283
Gene ID:
285590
Database links:
Entrez Gene: 285590 Human
Omim: 613293 Human
SwissProt: A1X283 Human
Unigene: 285666 Human
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