Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23514
MIM: 615384
HGNC: 28971
Ensembl: ENSG00000164808
Variants:
dbSNP: 23514
ClinVar: 23514
TCGA: ENSG00000164808
COSMIC: SPIDR
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34697795 | 2022 | A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability. | 3 |
| 34697795 | 2022 | A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability. | 3 |
| 31665741 | 2019 | The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination. | 19 |
| 31665741 | 2019 | The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination. | 19 |
| 27967308 | 2017 | A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. | 22 |
| 27967308 | 2017 | A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis. | 22 |
| 23509288 | 2013 | Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. | 35 |
| 23603433 | 2013 | Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cancer. | 6 |
| 23754376 | 2013 | FIGNL1-containing protein complex is required for efficient homologous recombination repair. | 48 |
| 23509288 | 2013 | Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. | 35 |
| 23603433 | 2013 | Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cancer. | 6 |
| 23754376 | 2013 | FIGNL1-containing protein complex is required for efficient homologous recombination repair. | 48 |
Citation
Dessen P
SPIDR (scaffold protein involved in DNA repair)
Atlas Genet Cytogenet Oncol Haematol. 2013-07-01
Online version: http://atlasgeneticsoncology.org/gene/53444/
