Gene table of RAD50 : RAD50 double strand break repair protein

Gene-disease associations table

Disease ID	Disease name	Source of annotation with RAD50	OMIM link	Number of associated genes	genes
613078	NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER	ClinVar, OMIM	link to OMIM	1	RAD50

Download the gene annotation in CSV format

Annotation of the gene RAD50

Associated genes in ENSEMBL

ENSG00000113522

Associated proteins - SwissProt Accession ID

Q92878

Associated PDB IDs

Cytogenetic Band

5q31.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Homologous recombination	hsa03440	7.91
Non-homologous end-joining	hsa03450	8.96

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
G2/M Checkpoints	R-HSA-69481	6.46
DNA Damage/Telomere Stress Induced Senescence	R-HSA-2559586	7.15
DNA Repair	R-HSA-73894	5.8
Cellular Senescence	R-HSA-2559583	5.7
Homologous recombination repair of replication-independent double-strand breaks	R-HSA-73951	8.98
MRN complex relocalizes to nuclear foci	R-HSA-83572	10.98
Homologous Recombination Repair	R-HSA-73888	8.98
Meiotic recombination	R-HSA-912446	7.25
Cellular responses to stress	R-HSA-2262752	4.56
Cell Cycle Checkpoints	R-HSA-69620	5.64
Meiosis	R-HSA-1500620	6.59
Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks	R-HSA-75177	10.98
Recruitment of repair and signaling proteins to double-strand breaks	R-HSA-75154	9.98
Cell Cycle	R-HSA-1640170	3.89
Double-Strand Break Repair	R-HSA-73890	8.46
G2/M DNA damage checkpoint	R-HSA-69473	7.15

Associated GO terms for Molecular function

GO term	GO ID	GO IC
structure-specific DNA binding	GO:0043566	4.98
nucleotide kinase activity	GO:0019201	6.52
ATPase activity	GO:0016887	3.65
ATP-dependent helicase activity	GO:0008026	5.12
nucleobase-containing compound kinase activity	GO:0019205	5.85
purine ribonucleoside triphosphate binding	GO:0035639	2.22
deoxyribonuclease activity	GO:0004536	5.48
cation binding	GO:0043169	1.4
adenylate kinase activity	GO:0004017	7.54
phosphotransferase activity, phosphate group as acceptor	GO:0016776	6.02
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
DNA binding	GO:0003677	1.92
DNA helicase activity	GO:0003678	5.73
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
ATP-dependent DNA helicase activity	GO:0004003	6.13
sequence-specific DNA binding	GO:0043565	2.79
3'-5' exonuclease activity	GO:0008408	5.83
pyrophosphatase activity	GO:0016462	3.04
single-stranded telomeric DNA binding	GO:0043047	7.44
carbohydrate derivative binding	GO:0097367	2.03
exonuclease activity	GO:0004527	5.33
endodeoxyribonuclease activity	GO:0004520	5.81
nucleotide binding	GO:0000166	1.96
transferase activity	GO:0016740	1.95
sequence-specific single stranded DNA binding	GO:0098847	7.44
nucleoside phosphate binding	GO:1901265	1.96
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
double-stranded DNA binding	GO:0003690	3.09
double-stranded telomeric DNA binding	GO:0003691	7.66
single-stranded DNA binding	GO:0003697	5.17
ATP binding	GO:0005524	2.43
hydrolase activity	GO:0016787	1.9
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
single-stranded DNA endodeoxyribonuclease activity	GO:0000014	7.79
telomeric DNA binding	GO:0042162	6.34
kinase activity	GO:0016301	2.93
nucleoside-triphosphatase activity	GO:0017111	3.09
hydrolase activity, acting on ester bonds	GO:0016788	3.1
helicase activity	GO:0004386	4.69
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
binding, bridging	GO:0060090	4.57
DNA-dependent ATPase activity	GO:0008094	5.31
protein binding, bridging	GO:0030674	4.68
metal ion binding	GO:0046872	1.41
G-quadruplex DNA binding	GO:0051880	7.95
adenyl nucleotide binding	GO:0030554	2.4
nuclease activity	GO:0004518	4.33
organic cyclic compound binding	GO:0097159	1.05
ATPase activity, coupled	GO:0042623	3.97
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine NTP-dependent helicase activity	GO:0070035	5.12
adenyl ribonucleotide binding	GO:0032559	2.41
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
endonuclease activity	GO:0004519	4.78