SPIDR: Scaffold Protein Involved in DNA Repair
Key player in homologous recombination and genomic stability
Gene Information Card
| Symbol | SPIDR |
|---|---|
| Full Name | Scaffold Protein Involved in DNA Repair |
| Gene Type | Protein coding |
| Chromosomal Location | 8q11.21 |
| NCBI Gene ID | 23514 ncbi.nlm.nih.gov/gene/23514 |
| Ensembl ID | ENSG00000104447 |
| UniProt ID | Q14159 |
| OMIM ID | 615384 |
| HGNC ID | 28971 |
| Aliases | KIAA0146, SPIDR1 |
Description
SPIDR (Scaffold Protein Involved in DNA Repair) encodes a protein that functions as a scaffold in homologous recombination repair of DNA double-strand breaks. It interacts with RAD51 and other repair factors to facilitate genomic stability. Mutations in SPIDR are associated with increased susceptibility to breast and ovarian cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Loss of SPIDR impairs homologous recombination, leading to genomic instability and tumorigenesis | ClinVar, COSMIC |
| Ovarian cancer | Defective DNA repair due to SPIDR mutations contributes to ovarian cancer risk | ClinVar, COSMIC |
| Fanconi anemia-like phenotype | Biallelic SPIDR mutations may cause bone marrow failure and developmental abnormalities | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | High |
| Bone marrow | 8.3 | Medium |
| Ovary | 6.7 | Medium |
| Breast | 5.1 | Low |
| Brain | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| MCF7 | 7.4 | Breast cancer cell line |
| K562 | 6.1 | Leukemia cell line |
| HEK293 | 5.5 | Embryonic kidney cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function |
| c.567_568del (p.Glu190fs) | Frameshift | Rare | Loss of function |
| c.890A>G (p.Tyr297Cys) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, impairing homologous recombination repair.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • double-strand break repair via homologous recombination (GO:0000724) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) | • intracellular membrane-bounded organelle (GO:0043231) |
Pathways
• Homologous recombination repair (Reactome: R-HSA-5693568)
• DNA double-strand break repair (KEGG: hsa03440)
Protein Summary
The SPIDR protein (UniProt Q14159) is a 1,097-amino acid scaffold that localizes to the nucleus and interacts with RAD51 to promote homologous recombination. It contains a conserved domain of unknown function (DUF) and is essential for maintaining genomic integrity after DNA damage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SPIDR Knockout HEK293 Cell Line | EDJ-KQ8040 | Human | 23514 | Details Get a Quote |
| SPIDR Knockout A-549 Cell Line | EDJ-KQ33835 | Human | 23514 | Details Get a Quote |
| SPIDR Knockout HCT 116 Cell Line | EDJ-KQ33836 | Human | 23514 | Details Get a Quote |
| SPIDR Knockout HeLa Cell Line | EDJ-KQ33837 | Human | 23514 | Details Get a Quote |
