SH3PXD2B
Chr 5ARSH3 and PX domains 2B
Also known as: FAD49, FTHS, HOFI, KIAA1295, TKS4, TSK4
This adapter protein is essential for podosome formation and extracellular matrix degradation, binding matrix metalloproteinases and NADPH oxidases to organize reactive oxygen species generation. Biallelic mutations cause Frank-ter Haar syndrome, a rare autosomal recessive disorder affecting skeletal, cardiac, and other systems. The gene is highly constrained against loss-of-function variation (LOEUF 0.488), reflecting its critical cellular functions.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SH3PXD2B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools