Gene: SH3PXD2B

Alternate names for this Gene: FAD49|FTHS|HOFI|KIAA1295|TKS4|TSK4

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q35.1

Description of this Gene: SH3 and PX domains 2B

Type of Gene: protein-coding

rs267607046 in SH3PXD2B gene and Ter Haar syndrome PMID 20137777 2010 Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

rs6859752 in SH3PXD2B gene and Waist-Hip Ratio PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.