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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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SPIDR
scaffold protein involved in DNA repair
Chromosome 8 Β· 8q11.21
NCBI Gene: 23514Ensembl: ENSG00000164808.17HGNC: HGNC:28971UniProt: B3KP42
29PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairHomologous Recombination
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingdouble-strand break repair via homologous recombinationDNA damage responseregulation of double-strand break repair via homologous recombinationovarian dysgenesis 9neurodegenerative diseasegenetic non-acquired premature ovarian failure46 XX gonadal dysgenesis
✦AI Summary

SPIDR (scaffold protein involved in DNA repair) functions as a critical scaffolding protein in homologous recombination (HR) repair of DNA double-strand breaks 1. The protein forms part of the human Shu complex, consisting of SWS1, SWSAP1, SPIDR and PDS5B, which promotes RAD51 recruitment to DNA repair foci and facilitates replication fork restart following stalling 1. SPIDR works by enhancing RAD51 filament stability and enabling strand exchange, while also modulating RPA dynamics on single-strand DNA to support high-fidelity DNA repair 2. The protein contains an OB-fold domain, which has been experimentally validated 3. Functionally, SPIDR is essential for maintaining genomic integrity during DNA damage responses and cellular stress conditions 1. Clinically, SPIDR mutations are associated with primary ovarian insufficiency (POI) and ovarian dysgenesis. A homozygous stop-gain mutation (c.839G>A, p.W280*) causes defective homologous recombination, leading to accumulation of DNA double-strand breaks and resulting in gonadal dysgenesis 4. Multiple studies have identified SPIDR variants in POI patients, establishing it as a causative gene for this condition 567. This underscores SPIDR's crucial role in ovarian function and female fertility.

Sources cited
1
SPIDR forms part of the human Shu complex and promotes RAD51 recruitment and replication fork restart
PMID: 31665741
2
SPIDR enhances RAD51 filament stability and modulates RPA dynamics on single-strand DNA
PMID: 39169038
3
SPIDR contains an experimentally validated OB-fold domain
PMID: 39237506
4
Homozygous SPIDR mutation causes defective homologous recombination and gonadal dysgenesis
PMID: 27967308
5
SPIDR is implicated in meiosis/DNA repair pathways and associated with POI
PMID: 34794894
6
SPIDR variants identified in POI patients confirm its causal role
PMID: 36099812
7
SPIDR variants found in Russian POI patients, supporting gene-disease association
PMID: 41393291
Disease Associationsβ“˜21
ovarian dysgenesis 9Open Targets
0.63Moderate
neurodegenerative diseaseOpen Targets
0.42Moderate
genetic non-acquired premature ovarian failureOpen Targets
0.42Moderate
46 XX gonadal dysgenesisOpen Targets
0.37Weak
46,XX gonadal dysgenesisOpen Targets
0.37Weak
Abnormality of the skeletal systemOpen Targets
0.35Weak
ovarian neoplasmOpen Targets
0.30Weak
preeclampsiaOpen Targets
0.22Weak
idiopathic pulmonary fibrosisOpen Targets
0.18Weak
cervical carcinomaOpen Targets
0.17Weak
digestive system neoplasmOpen Targets
0.16Weak
lung cancerOpen Targets
0.16Weak
actinic keratosisOpen Targets
0.13Weak
hepatocellular carcinomaOpen Targets
0.07Suggestive
Alzheimer diseaseOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.04Suggestive
infertilityOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
Ischemic strokeOpen Targets
0.01Suggestive
Mobius syndromeOpen Targets
0.01Suggestive
Ovarian dysgenesis 9UniProt
Pathogenic Variants7
NM_001080394.4(SPIDR):c.2104dup (p.Cys702fs)Likely pathogenic
Ovarian dysgenesis 9
β˜…β˜†β˜†β˜†2025β†’ Residue 702
NM_001080394.4(SPIDR):c.902_903del (p.Val301fs)Likely pathogenic
Ovarian dysgenesis 9
β˜…β˜†β˜†β˜†2025β†’ Residue 301
NM_001080394.4(SPIDR):c.1727dup (p.Ala577fs)Likely pathogenic
Ovarian dysgenesis 9
β˜…β˜†β˜†β˜†2022β†’ Residue 577
NM_001080394.4(SPIDR):c.814C>T (p.Arg272Ter)Pathogenic
Ovarian dysgenesis 9
β˜†β˜†β˜†β˜†2022β†’ Residue 272
NM_001080394.4(SPIDR):c.839G>A (p.Trp280Ter)Pathogenic
Ovarian dysgenesis 9
β˜†β˜†β˜†β˜†2021β†’ Residue 280
NM_001080394.4(SPIDR):c.776+1G>TPathogenic
Genetic non-acquired premature ovarian failure
β˜†β˜†β˜†β˜†2019
NM_001080394.4(SPIDR):c.2265del (p.Cys756fs)Pathogenic
Genetic non-acquired premature ovarian failure
β˜†β˜†β˜†β˜†2019β†’ Residue 756
View on ClinVar β†—
Related Genes
RAD51Protein interaction88%SWSAP1Protein interaction73%FIGNL1Protein interaction59%RAD51AP1Shared pathway40%SLF2Shared pathway33%SLF1Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Lung
97%
Bone Marrow
68%
Brain
62%
Liver
62%
Heart
38%
Gene Interaction Network
Click a node to explore
SPIDRRAD51SWSAP1FIGNL1RAD51AP1SLF2SLF1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14159
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.66–0.98]
RankingsWhere SPIDR stands among ~20K protein-coding genes
  • #12,241of 20,598
    Most Researched29
  • #3,252of 5,498
    Most Pathogenic Variants7
  • #9,320of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedSPIDR
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
1.00
2
The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.
PMID: 31665741
Nucleic Acids Res Β· 2019
0.90
3
SPIDR enables multiplexed mapping of RNA-protein interactions and uncovers a mechanism for selective translational suppression upon cell stress.
PMID: 40701149
Cell Β· 2025
0.80
4
The human Shu complex promotes RAD51 activity by modulating RPA dynamics on ssDNA.
PMID: 39169038
Nat Commun Β· 2024
0.70
5
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
PMID: 36099812
EBioMedicine Β· 2022
0.60