WASF3 Gene (WASP Family Member 3)
Actin Cytoskeleton Regulator in Cell Migration and Cancer Metastasis
Gene Information Card
| Symbol | WASF3 |
|---|---|
| Full Name | WASP family member 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q12.13 |
| NCBI Gene ID | 10810 ncbi.nlm.nih.gov/gene/10810 |
| Ensembl ID | ENSG00000132965 |
| UniProt ID | Q9Y6W5 |
| OMIM ID | 608231 |
| HGNC ID | 12733 |
| Aliases | WAVE3, SCAR3 |
Description
WASF3 (WASP family member 3) encodes a member of the WASP family of proteins that regulate actin polymerization through the Arp2/3 complex. The protein, also known as WAVE3, is involved in cytoskeletal remodeling, cell migration, and invasion. WASF3 is implicated in cancer metastasis and neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | WASF3 overexpression promotes invasion and metastasis via actin cytoskeleton reorganization | PMID: 18413744 |
| Prostate Cancer | WASF3 upregulation correlates with metastatic progression and poor prognosis | PMID: 21573172 |
| Gastric Cancer | WASF3 enhances cell migration and invasion through Arp2/3 complex activation | PMID: 23361059 |
| Intellectual Disability | Homozygous loss-of-function mutations in WASF3 cause autosomal recessive intellectual disability | PMID: 27018475 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 6.1 | Low |
| Prostate | 5.4 | Low |
| Stomach | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (Breast Cancer) | 15.2 | High expression |
| PC3 (Prostate Cancer) | 12.8 | High expression |
| HEK293 (Embryonic Kidney) | 7.5 | Moderate expression |
| HeLa (Cervical Cancer) | 6.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.127C>T (p.Arg43*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.497G>A (p.Arg166Gln) | Missense | Rare | Unknown functional effect |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg43*) lead to truncated protein and loss of actin-regulatory function, associated with intellectual disability.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• Arp2/3 complex-mediated actin nucleation (Reactome: R-HSA-201681)
• Rac1 signaling pathway (Reactome: R-HSA-9013408)
Protein Summary
WASF3 (WAVE3) is a 502-amino acid protein that belongs to the WASP family. It contains a WHD domain, a basic region, a proline-rich region, and a VCA domain. The VCA domain binds to the Arp2/3 complex to nucleate actin filaments, driving lamellipodia formation and cell motility. WASF3 is regulated by Rac1 and phosphorylation, and its overexpression is linked to metastatic cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| WASF3 Knockout HEK293 Cell Line | EDJ-KQ3182 | Human | 10810 | Details Get a Quote |
| WASF3 Knockout HCT 116 Cell Line | EDJ-KQ24612 | Human | 10810 | Details Get a Quote |
| WASF3 Knockout HeLa Cell Line | EDJ-KQ55491 | Human | 10810 | Details Get a Quote |
| WASF3 Knockout A-549 Cell Line | EDJ-KQ63981 | Human | 10810 | Details Get a Quote |
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