SH3PXD2B, Official Symbol SH3PXD2Bprovided by HGNC Official Full Name SH3 and PX domains 2Bprovided by HGNC Primary source HGNC:HGNC:29242 See related Ensembl:ENSG00000174705 MIM:613293; AllianceGenome:HGNC:29242 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FTHS; HOFI; TKS4; TSK4; FAD49; KIAA1295 Summary 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] Expression Ubiquitous expression in gall bladder (RPKM 13.5), endometrium (RPKM 11.8) and 23 other tissues See more Orthologs mouse all