ZSWIM7
Zinc Finger SWIM Domain Containing 7
Gene Information Card
| Symbol | ZSWIM7 |
|---|---|
| Full Name | Zinc Finger SWIM Domain Containing 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p12 |
| NCBI Gene ID | 125150 ncbi.nlm.nih.gov/gene/125150 |
| Ensembl ID | ENSG00000187601 |
| UniProt ID | Q6P0N0 |
| OMIM ID | 618466 |
| HGNC ID | 26938 |
| Aliases | SWS1, C17orf56, FLJ32709 |
Description
ZSWIM7 encodes a protein containing a SWIM zinc finger domain, which is involved in homologous recombination repair of DNA double-strand breaks. The protein interacts with RAD51 and other recombination factors to facilitate strand exchange. Mutations in ZSWIM7 have been associated with increased susceptibility to breast and ovarian cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss-of-function mutations impair homologous recombination repair, leading to genomic instability | ClinVar, COSMIC |
| Ovarian cancer | Defective DNA repair due to ZSWIM7 mutations promotes tumorigenesis | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Ovary | 8.5 | Low |
| Breast | 6.3 | Low |
| Bone marrow | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 12.0 | Moderate expression |
| HeLa (cervical cancer) | 9.8 | Moderate expression |
| HEK293 (embryonic kidney) | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Ter) | Nonsense | <0.01% | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein or disrupt the SWIM domain impair homologous recombination.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • DNA repair | • homologous recombination |
| • zinc ion binding | • protein binding |
| • nucleus |
Pathways
• Homologous recombination repair
• Fanconi anemia pathway
Protein Summary
ZSWIM7 is a 217-amino acid protein with a SWIM zinc finger domain. It localizes to the nucleus and forms a complex with RAD51 and SWSAP1 to promote homologous recombination. The protein is essential for maintaining genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZSWIM7 Knockout HEK293 Cell Line | EDJ-KQ8755 | Human | 125150 | Details Get a Quote |
| ZSWIM7 Knockout A-549 Cell Line | EDJ-KQ35005 | Human | 125150 | Details Get a Quote |
| ZSWIM7 Knockout HCT 116 Cell Line | EDJ-KQ35006 | Human | 125150 | Details Get a Quote |
| ZSWIM7 Knockout HeLa Cell Line | EDJ-KQ35007 | Human | 125150 | Details Get a Quote |
