{"symbol":"SH3PXD2B","synonyms":["KIAA1295","FAD49","TKS4","FTHS","HOFI"],"name":"SH3 and PX domains 2B","description":"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]","ncbiEntrezGeneId":285590,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/285590","proteins":[{"symbol":"SPD2B_HUMAN","href":"/api/1.0/protein/SPD2B_HUMAN"}],"hgncRootFamilies":[]}