SPIDR (scaffold protein involved in DNA repair)

2013-07-01  

Identity

HGNC
SPIDR
LOCATION
8q11.21
LOCUSID
23514
ALIAS
KIAA0146
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
237543762013FIGNL1-containing protein complex is required for efficient homologous recombination repair.18
235092882013Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair.16
279673082017A Biallelic Mutation in the Homologous Recombination Repair Gene SPIDR Is Associated With Human Gonadal Dysgenesis.6
236034332013Instability at the FRA8I common fragile site disrupts the genomic integrity of the KIAA0146, CEBPD and PRKDC genes in colorectal cancer.3
316657412019The human Shu complex functions with PDS5B and SPIDR to promote homologous recombination.3

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/spidr