SH3PXD2B Gene - SH3 and PX Domains 2B
A key adaptor protein involved in podosome formation, cell migration, and craniofacial development.
Gene Information Card
| Symbol | SH3PXD2B |
|---|---|
| Full Name | SH3 and PX domains 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 285590 ncbi.nlm.nih.gov/gene/285590 |
| Ensembl ID | ENSG00000174720 |
| UniProt ID | A1X283 |
| OMIM ID | 613293 |
| HGNC ID | 29242 |
| Aliases | TKS5, FAD49, SH3MD2 |
Description
SH3PXD2B (SH3 and PX domains 2B) encodes a scaffold protein that contains an N-terminal phox homology (PX) domain and four Src homology 3 (SH3) domains. It is a key component of podosomes and invadopodia, actin-rich structures that mediate cell adhesion and matrix degradation. The protein is essential for craniofacial development and cell migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Borre's syndrome (Frank-ter Haar syndrome) | Loss-of-function mutations in SH3PXD2B disrupt podosome formation, leading to skeletal and craniofacial abnormalities. | OMIM #613293 |
| Craniofacial dysmorphism | Impaired cell migration due to defective SH3PXD2B function affects neural crest cell development. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Lung | 4.1 | Low |
| Liver | 2.5 | Not detected |
| Kidney | 6.0 | Medium |
| Testis | 8.9 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.3 | Moderate expression |
| A549 | 5.8 | Low expression |
| HEK293 | 6.1 | Moderate expression |
| MCF7 | 4.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Premature stop, loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Frameshift, loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Potential structural disruption |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein lacking SH3 domains, impairing podosome formation.
Gain of Function (GOF)
Not reported in curated databases.
Dominant Negative (DN)
Not reported in curated databases.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Podosome assembly
• Invadopodia formation
• Integrin signaling
Protein Summary
SH3PXD2B (TKS5) is a 1166-amino acid scaffold protein with a PX domain that binds phosphoinositides and four SH3 domains that mediate protein-protein interactions. It localizes to podosomes and invadopodia, where it recruits Src kinase and other effectors to regulate actin dynamics and matrix degradation. The protein is critical for embryonic development, particularly craniofacial morphogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3PXD2B Knockout HEK293 Cell Line | EDJ-KQ15245 | Human | 285590 | Details Get a Quote |
| SH3PXD2B Knockout A-549 Cell Line | EDJ-KQ45931 | Human | 285590 | Details Get a Quote |
| SH3PXD2B Knockout HCT 116 Cell Line | EDJ-KQ45932 | Human | 285590 | Details Get a Quote |
| SH3PXD2B Knockout HeLa Cell Line | EDJ-KQ45933 | Human | 285590 | Details Get a Quote |
