SH3PXD2A Gene - SH3 and PX Domains 2A
A comprehensive resource for SH3PXD2A gene information, including genomic data, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | SH3PXD2A |
|---|---|
| Full Name | SH3 and PX domains 2A |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.33 |
| NCBI Gene ID | 9644 ncbi.nlm.nih.gov/gene/9644 |
| Ensembl ID | ENSG00000107957 |
| UniProt ID | Q5TCZ1 |
| OMIM ID | 611270 |
| HGNC ID | 23626 |
| Aliases | FISH, SH3MD1, TKS5 |
Description
SH3PXD2A (SH3 and PX domains 2A) is a protein-coding gene that encodes an adaptor protein involved in cell migration, invasion, and podosome formation. It contains SH3 domains and a phox (PX) domain, facilitating interactions with signaling molecules and membrane targeting. The gene is implicated in cancer progression and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Overexpression promotes invadopodia formation and matrix degradation | COSMIC, literature |
| Invasive breast cancer | Upregulation correlates with poor prognosis | PubMed, COSMIC |
| Melanoma | Enhanced expression linked to metastatic potential | COSMIC, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 8.2 | Medium |
| Breast | 6.5 | Medium |
| Colon | 5.1 | Low |
| Prostate | 4.8 | Low |
| Skin | 7.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 9.1 | High expression |
| A549 (lung cancer) | 7.8 | Medium expression |
| HeLa (cervical cancer) | 6.4 | Medium expression |
| SK-MEL-28 (melanoma) | 8.5 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | <0.1% | Unknown |
| c.567_568insA | Frameshift | <0.1% | Loss of function |
| c.890C>T (p.Pro297Leu) | Missense | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely result in truncated protein and loss of adaptor function.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests potential gain-of-function role.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • actin cytoskeleton organization (GO:0030036) |
| • cell projection (GO:0042995) | • vesicle (GO:0031982) |
| • cytoplasm (GO:0005737) |
Pathways
• Podosome formation
• EGFR signaling
• Integrin signaling
Protein Summary
The SH3PXD2A protein (also known as TKS5) is a 120 kDa adaptor protein containing five SH3 domains and one PX domain. It localizes to podosomes and invadopodia, where it scaffolds signaling proteins such as Src and N-WASP, promoting actin polymerization and extracellular matrix degradation. Its expression is elevated in invasive cancer cells, contributing to metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SH3PXD2A Knockout HEK293 Cell Line | EDJ-KQ6673 | Human | 9644 | Details Get a Quote |
| SH3PXD2A Knockout A-549 Cell Line | EDJ-KQ30989 | Human | 9644 | Details Get a Quote |
| SH3PXD2A Knockout HCT 116 Cell Line | EDJ-KQ30990 | Human | 9644 | Details Get a Quote |
| SH3PXD2A Knockout HeLa Cell Line | EDJ-KQ30991 | Human | 9644 | Details Get a Quote |
