RAD50 (RAD50 double strand break repair protein)

2003-02-01 Affiliation

Identity

HGNC

RAD50

LOCATION

5q31.1

LOCUSID

10111

ALIAS

NBSLD,RAD502,hRad50

FUSION GENES

Show Gene Fusions

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: 10111
MIM: 604040
HGNC: 9816
Ensembl: ENSG00000113522

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000113522	ENST00000378823	Q92878
ENSG00000113522	ENST00000416135	C9JNH8
ENSG00000113522	ENST00000423956	E7ESD9
ENSG00000113522	ENST00000434288	H7C0P8
ENSG00000113522	ENST00000453394	E7EN38
ENSG00000113522	ENST00000455677	H7C0V2
ENSG00000113522	ENST00000533482	E9PM98
ENSG00000113522	ENST00000651160	A0A494C122
ENSG00000113522	ENST00000651249	A0A494BZX8
ENSG00000113522	ENST00000651541	A0A494C0Y7
ENSG00000113522	ENST00000651723	A0A494BZW0
ENSG00000113522	ENST00000652016	A0A494BZX5
ENSG00000113522	ENST00000652485	A0A494C1B7

Expression (GTEx)

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

Pathway	Source	External ID
Homologous recombination	KEGG	ko03440
Non-homologous end-joining	KEGG	ko03450
Homologous recombination	KEGG	hsa03440
Non-homologous end-joining	KEGG	hsa03450
MRN complex	KEGG	hsa_M00291
BRCA1-associated genome surveillance complex (BASC)	KEGG	hsa_M00295
MRN complex	KEGG	M00291
BRCA1-associated genome surveillance complex (BASC)	KEGG	M00295
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
Cell Cycle	REACTOME	R-HSA-1640170
Cell Cycle Checkpoints	REACTOME	R-HSA-69620
G2/M Checkpoints	REACTOME	R-HSA-69481
G2/M DNA damage checkpoint	REACTOME	R-HSA-69473
Meiosis	REACTOME	R-HSA-1500620
Meiotic recombination	REACTOME	R-HSA-912446
DNA Repair	REACTOME	R-HSA-73894
Cellular responses to stress	REACTOME	R-HSA-2262752
Cellular Senescence	REACTOME	R-HSA-2559583
DNA Damage/Telomere Stress Induced Senescence	REACTOME	R-HSA-2559586
DNA Double-Strand Break Repair	REACTOME	R-HSA-5693532
DNA Double Strand Break Response	REACTOME	R-HSA-5693606
Sensing of DNA Double Strand Breaks	REACTOME	R-HSA-5693548
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	REACTOME	R-HSA-5693565
Homology Directed Repair	REACTOME	R-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)	REACTOME	R-HSA-5693567
Processing of DNA double-strand break ends	REACTOME	R-HSA-5693607
HDR through Homologous Recombination (HRR)	REACTOME	R-HSA-5685942
Homologous DNA Pairing and Strand Exchange	REACTOME	R-HSA-5693579
Presynaptic phase of homologous DNA pairing and strand exchange	REACTOME	R-HSA-5693616
Resolution of D-Loop Structures	REACTOME	R-HSA-5693537
Resolution of D-loop Structures through Holliday Junction Intermediates	REACTOME	R-HSA-5693568
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)	REACTOME	R-HSA-5693554
HDR through Single Strand Annealing (SSA)	REACTOME	R-HSA-5685938
HDR through MMEJ (alt-NHEJ)	REACTOME	R-HSA-5685939
Nonhomologous End-Joining (NHEJ)	REACTOME	R-HSA-5693571
Regulation of TP53 Activity	REACTOME	R-HSA-5633007
Regulation of TP53 Activity through Phosphorylation	REACTOME	R-HSA-6804756

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
15790808	2005	ATM activation by DNA double-strand breaks through the Mre11-Rad50-Nbs1 complex.	514
21325134	2011	BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair.	301
15064416	2004	Direct activation of the ATM protein kinase by the Mre11/Rad50/Nbs1 complex.	257
12124628	2002	Adenovirus oncoproteins inactivate the Mre11-Rad50-NBS1 DNA repair complex.	246
19633668	2009	Role of Mre11 in chromosomal nonhomologous end joining in mammalian cells.	161
12660252	2003	Phosphorylation of histone H2AX and activation of Mre11, Rad50, and Nbs1 in response to replication-dependent DNA double-strand breaks induced by mammalian DNA topoisomerase I cleavage complexes.	142
20159242	2010	Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.	112
20159242	2010	Genome-wide association study of asthma identifies RAD50-IL13 and HLA-DR/DQ regions.	112
16163361	2005	Mesoscale conformational changes in the DNA-repair complex Rad50/Mre11/Nbs1 upon binding DNA.	103
18846228	2008	Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus.	86

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/rad50-(rad50-double-strand-break-repair-protein)