SPIDR (scaffold protein involved in DNA repair)

2013-07-01  

Identity

HGNC
LOCATION
8q11.21
LOCUSID
ALIAS
KIAA0146
FUSION GENES

Other Information

Locus ID:

NCBI: 23514
MIM: 615384
HGNC: 28971
Ensembl: ENSG00000164808

Variants:

dbSNP: 23514
ClinVar: 23514
TCGA: ENSG00000164808
COSMIC: SPIDR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164808ENST00000297423Q14159
ENSG00000164808ENST00000517619E5RFY2
ENSG00000164808ENST00000517693B3KP42
ENSG00000164808ENST00000517824E5RGV8
ENSG00000164808ENST00000518060E5RIB8
ENSG00000164808ENST00000518074Q14159
ENSG00000164808ENST00000519401H0YBC9
ENSG00000164808ENST00000519661E7EVI9
ENSG00000164808ENST00000522117E5RHG3
ENSG00000164808ENST00000522222E5RIU7
ENSG00000164808ENST00000523814E5RJJ2
ENSG00000164808ENST00000524006E5RGX8
ENSG00000164808ENST00000524033B4DMX9
ENSG00000164808ENST00000524126E7EVI9
ENSG00000164808ENST00000541342Q14159

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Resolution of D-Loop StructuresREACTOMER-HSA-5693537
Resolution of D-loop Structures through Holliday Junction IntermediatesREACTOMER-HSA-5693568

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
346977952022A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.3
346977952022A SPIDR homozygous nonsense pathogenic variant in isolated primary ovarian insufficiency with chromosomal instability.3
316657412019The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.19
316657412019The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.19
279673082017A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.22
279673082017A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.22
235092882013Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair.35
236034332013Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cancer.6
237543762013FIGNL1-containing protein complex is required for efficient homologous recombination repair.48
235092882013Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair.35
236034332013Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cancer.6
237543762013FIGNL1-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/tumors-explorer/img/favicon/apple-touch-icon.png