RAD50 (RAD50 double strand break repair protein)

2003-02-01  

Identity

HGNC
RAD50
LOCATION
5q31.1
LOCUSID
10111
ALIAS
NBSLD,RAD502,hRad50
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10111
MIM: 604040
HGNC: 9816
Ensembl: ENSG00000113522

Variants:

dbSNP: 10111
ClinVar: 10111
TCGA: ENSG00000113522
COSMIC: RAD50

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000113522ENST00000378823Q92878
ENSG00000113522ENST00000416135C9JNH8
ENSG00000113522ENST00000423956E7ESD9
ENSG00000113522ENST00000434288H7C0P8
ENSG00000113522ENST00000453394E7EN38
ENSG00000113522ENST00000455677H7C0V2
ENSG00000113522ENST00000533482E9PM98
ENSG00000113522ENST00000651160A0A494C122
ENSG00000113522ENST00000651249A0A494BZX8
ENSG00000113522ENST00000651541A0A494C0Y7
ENSG00000113522ENST00000651723A0A494BZW0
ENSG00000113522ENST00000652016A0A494BZX5
ENSG00000113522ENST00000652485A0A494C1B7

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
Homologous recombinationKEGGko03440
Non-homologous end-joiningKEGGko03450
Homologous recombinationKEGGhsa03440
Non-homologous end-joiningKEGGhsa03450
MRN complexKEGGhsa_M00291
BRCA1-associated genome surveillance complex (BASC)KEGGhsa_M00295
MRN complexKEGGM00291
BRCA1-associated genome surveillance complex (BASC)KEGGM00295
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
MeiosisREACTOMER-HSA-1500620
Meiotic recombinationREACTOMER-HSA-912446
DNA RepairREACTOMER-HSA-73894
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
DNA Damage/Telomere Stress Induced SenescenceREACTOMER-HSA-2559586
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Sensing of DNA Double Strand BreaksREACTOMER-HSA-5693548
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
HDR through Homologous Recombination (HRR)REACTOMER-HSA-5685942
Homologous DNA Pairing and Strand ExchangeREACTOMER-HSA-5693579
Presynaptic phase of homologous DNA pairing and strand exchangeREACTOMER-HSA-5693616
Resolution of D-Loop StructuresREACTOMER-HSA-5693537
Resolution of D-loop Structures through Holliday Junction IntermediatesREACTOMER-HSA-5693568
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)REACTOMER-HSA-5693554
HDR through Single Strand Annealing (SSA)REACTOMER-HSA-5685938
HDR through MMEJ (alt-NHEJ)REACTOMER-HSA-5685939
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571
Regulation of TP53 ActivityREACTOMER-HSA-5633007
Regulation of TP53 Activity through PhosphorylationREACTOMER-HSA-6804756

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
376447522024Silencing TRIM29 Sensitizes Non-small Cell Lung Cancer Cells to Anlotinib by Promoting Apoptosis via Binding RAD50.0
376447522024Silencing TRIM29 Sensitizes Non-small Cell Lung Cancer Cells to Anlotinib by Promoting Apoptosis via Binding RAD50.0
377941362023Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.0
377941362023Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.0
359872002022Structural mechanism of endonucleolytic processing of blocked DNA ends and hairpins by Mre11-Rad50.11
359872002022Structural mechanism of endonucleolytic processing of blocked DNA ends and hairpins by Mre11-Rad50.11
330389132021Overexpression of RAD50 is the Marker of Poor Prognosis and Drug Resistance in Breast Cancer Patients.1
330907112021Enhanced DNA damage response through RAD50 in triple negative breast cancer resistant and cancer stem-like cells contributes to chemoresistance.6
342616972021MRN Complex and Cancer Risk: Old Bottles, New Wine.6
347344682021Rad50 promotes ovarian cancer progression through NF-κB activation.8
330389132021Overexpression of RAD50 is the Marker of Poor Prognosis and Drug Resistance in Breast Cancer Patients.1
330907112021Enhanced DNA damage response through RAD50 in triple negative breast cancer resistant and cancer stem-like cells contributes to chemoresistance.6
342616972021MRN Complex and Cancer Risk: Old Bottles, New Wine.6
347344682021Rad50 promotes ovarian cancer progression through NF-κB activation.8
318728542020Genetic interactions between INPP4B and RAD50 is prognostic of breast cancer survival.2

Citation

Dessen P

RAD50 (RAD50 double strand break repair protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/245/gene-fusions/css/lib/favicon/manifest.json