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DNA lesions, particularly double-strand breaks (DSBs), can have severe genotoxic effects if not promptly handled. DSBs can be initiated by DNA damaging agents such as ionizing radiation or arise during replication through exposure to metabolites and are also physiological intermediates generated during V(D)J [variable (V), diversity (D) and the joining (J) recombination] and class switch recombination in lymphocytes of the immune system. The cells possess a robust response mechanism to DNA damag

Pathway Diagram:

Elsevier Inc. Rpa complex MRN complex Rbbp8 Brca1 ataxia telangiectasia-mutated (ATM) signaling pathway Rad51paralogs/mediators Rad51 ---- Rad51paralogs/mediators Rad51 Brca1 ---- MRN complex Exo1 Dna2 Blm Brca1 ---- Rbbp8 Rad54b

Genes in Pathway:

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homologous recombination pathway of double-strand break repair term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atm ATM serine/threonine kinase JBrowse link 8 58,015,938 58,119,973 RGD:1578504
G Blm Bloom syndrome RecQ like helicase JBrowse link 1 142,246,773 142,332,616 RGD:8662366
G Brca1 BRCA1, DNA repair associated JBrowse link 10 89,394,821 89,455,093 RGD:1578504
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:6907045
G Dna2 DNA replication helicase/nuclease 2 RGD:8662366
G Eme1 essential meiotic structure-specific endonuclease 1 JBrowse link 10 82,366,820 82,375,510 RGD:6907045
G Exo1 exonuclease 1 JBrowse link 13 93,936,989 93,962,749 RGD:8662366
G Mre11a MRE11 homolog A, double strand break repair nuclease JBrowse link 8 13,304,355 13,350,329 RGD:1578504
G Mus81 MUS81 structure-specific endonuclease subunit JBrowse link 1 220,862,474 220,867,973 RGD:6907045
G Nbn nibrin JBrowse link 5 29,622,347 29,656,877 RGD:1578504
G Pold1 DNA polymerase delta 1, catalytic subunit JBrowse link 1 100,538,066 100,554,105 RGD:6907045
G Pold2 DNA polymerase delta 2, accessory subunit JBrowse link 14 86,111,416 86,117,578 RGD:6907045
G Pold3 DNA polymerase delta 3, accessory subunit JBrowse link 1 165,085,142 165,122,385 RGD:6907045
G Pold4 DNA polymerase delta 4, accessory subunit JBrowse link 1 219,480,841 219,483,244 RGD:6907045
G Rad50 RAD50 double strand break repair protein JBrowse link 10 39,002,130 39,054,042 RGD:1578504
G Rad51 RAD51 recombinase JBrowse link 3 110,918,240 110,942,920 RGD:6907045
G Rad51b RAD51 paralog B JBrowse link 6 102,473,978 103,018,185 RGD:8662366
G Rad51c RAD51 paralog C JBrowse link 10 74,697,713 74,724,004 RGD:6907045
G Rad51d RAD51 paralog D JBrowse link 10 70,222,703 70,241,352 RGD:8662366
G Rad52 RAD52 homolog, DNA repair protein JBrowse link 4 152,429,826 152,451,875 RGD:6907045
G Rad54b RAD54 homolog B (S. cerevisiae) JBrowse link 5 25,140,531 25,214,469 RGD:6907045
G Rad54l RAD54 like JBrowse link 5 134,948,511 134,978,125 RGD:6907045
G Rbbp8 RB binding protein 8, endonuclease JBrowse link 18 3,134,630 3,227,702 RGD:8661237
G Rpa1 replication protein A1 JBrowse link 10 62,140,419 62,191,518 RGD:6907045
G Rpa2 replication protein A2 JBrowse link 5 150,957,041 150,967,597 RGD:6907045
G Rpa3 replication protein A3 JBrowse link 4 34,279,320 34,282,351 RGD:6907045
G Sem1 SEM1, 26S proteasome complex subunit JBrowse link 4 32,067,444 32,087,600 RGD:6907045
G Ssbp1 single stranded DNA binding protein 1 JBrowse link 4 68,634,844 68,645,112 RGD:6907045
G Top3a DNA topoisomerase III alpha JBrowse link 10 46,980,646 47,018,728 RGD:6907045
G Top3b DNA topoisomerase III beta JBrowse link 11 88,346,305 88,374,896 RGD:6907045
G Xrcc2 X-ray repair cross complementing 2 JBrowse link 4 5,842,013 5,860,516 RGD:6907045
G Xrcc3 X-ray repair cross complementing 3 JBrowse link 6 136,366,917 136,380,751 RGD:8662366

Pathway Gene Annotations

Disease Annotations Associated with Genes in the homologous recombination pathway of double-strand break repair
Disease TermsGene Symbols
2-Aminoadipic 2-Oxoadipic AciduriaRad50
Abnormalities, MultiplePold1
acute lymphocytic leukemiaNbn
Acyl-CoA Dehydrogenase Family, Member 9, Deficiency ofNbn
Adenocarcinoma, ColonRad54l
Adenocarcinoma, Colonic, SomaticRad54l
Agenesis of Corpus CallosumNbn
Aging, PrematureBrca1
Alzheimer DiseaseAtm , Mre11a , Nbn
Anemia, AplasticNbn
Apraxia, Oculomotor, Cogan TypeAtm
Arsenic PoisoningSsbp1
Arthrogryposis Renal Dysfunction Cholestasis SyndromeBrca2
Ataxia TelangiectasiaAtm
Ataxia telangiectasia like disorderMre11a
Ataxia-Telangiectasia VariantAtm
Ataxia-telangiectasia-like disorder 1Mre11a
Bloom SyndromeBlm
breast cancerAtm , Brca1 , Brca2
breast carcinomaBrca1 , Brca2
Breast NeoplasmsAtm , Brca1 , Brca2 , Exo1 , Mre11a , Nbn , Rad50 , Rad51 , Rad51b , Rad51c , Rad54l , Xrcc2 , Xrcc3
Breast Neoplasms, MaleBrca2 , Rad51b
Breast-Ovarian Cancer, Familial, Susceptibility To, 1Brca1 , Brca2 , Nbn
Breast-Ovarian Cancer, Familial, Susceptibility To, 2Brca2
Breast-Ovarian Cancer, Familial, Susceptibility to, 3Rad51c
Breast-Ovarian Cancer, Familial, Susceptibility To, 4Rad51d
Burn-Mckeown SyndromeNbn
Carcinoma, Adenoid CysticAtm , Brca1
Carcinoma, Basal CellXrcc3
Carcinoma, Ductal, BreastBrca1 , Brca2 , Rad50 , Rad54l
Carcinoma, HepatocellularAtm
Carcinoma, Intraductal, NoninfiltratingBrca2
Carcinoma, Renal CellAtm
Carcinoma, Squamous CellAtm , Sem1
Cardiomyopathy, DilatedAtm
Cardiomyopathy, Dilated, 1GBrca2
Cardiomyopathy, Familial Hypertrophic, 9Brca2
CataractAtm , Brca2
Cell Transformation, NeoplasticBrca1
Cerebellar AtaxiaAtm
Ceroid Lipofuscinosis, Neuronal 8Rad51c
Cervical Intraepithelial NeoplasiaBrca1
childhood acute lymphocytic leukemiaNbn
Chromosome BreakageBrca1
colon cancerBrca2 , Pold1 , Rad54b , Xrcc2
Colonic NeoplasmsBrca1 , Brca2 , Mre11a , Pold1 , Rad54b , Xrcc2
colorectal cancerBrca2 , Pold1 , Rad54b , Xrcc2
Colorectal NeoplasmsBrca2 , Exo1 , Pold1 , Pold3 , Rad54b , Xrcc2
Combined Oxidative Phosphorylation Deficiency 3Atm
Congenital disorder of glycosylation type 1IBrca2
Congenital Myasthenic Syndrome IbBrca1
Dyskeratosis CongenitaNbn
Endometrial NeoplasmsAtm , Brca2 , Mre11a , Pold1
Epilepsies, MyoclonicBrca2
Epilepsy, Progressive Myoclonic 6Nbn
Esophageal Atresia with or without Tracheoesophageal FistulaBrca2 , Rad51c
Esophageal NeoplasmsBrca2 , Xrcc3
Esophageal Squamous Cell CarcinomaBrca2
Fanconi AnemiaBrca1 , Brca2 , Rad51c
Fanconi anemia complementation group ABrca1
Fanconi anemia complementation group UXrcc2
Fanconi Anemia, Complementation Group D1Brca2
Fanconi Anemia, Complementation Group ORad51c
Gangliosidosis, GM1Brca2
Gaucher DiseaseBrca2
Genetic Diseases, InbornAtm , Brca2 , Rad51d , Rad54l
Genetic Predisposition to DiseaseRad51 , Xrcc3
Head and Neck NeoplasmsRad51 , Xrcc3
Hematologic DiseasesBrca2
Hepatolenticular DegenerationBrca2
Hereditary Breast and Ovarian Cancer SyndromeAtm , Brca1 , Brca2 , Mre11a , Rad51b , Rad51c , Rad51d
Hereditary Sensory and Autonomic NeuropathiesRad52
HypertensionBrca1 , Rad51
Insulin ResistanceAtm
Jaw AbnormalitiesPold1
Joubert SyndromeBrca1
Joubert Syndrome 17Brca1
Kidney Reperfusion InjuryAtm
Lead PoisoningXrcc3
Leukemia, Lymphocytic, Chronic, B-CellAtm
Leukemia, Prolymphocytic, T-CellAtm
Lipoyltransferase 1 DeficiencyNbn
Liver CirrhosisRad50
Liver Failure, AcuteAtm
Liver Neoplasms, ExperimentalRad51
Lung NeoplasmsBrca2
Lymphoma, B-CellAtm
Lymphoma, Mantle-CellAtm
Lymphoma, Non-HodgkinRad54b , Rad54l
Lymphoma, T-Cell, CutaneousAtm
Lymphoma, T-Cell, PeripheralAtm
Mammary Neoplasms, AnimalBrca1
Mammary Neoplasms, ExperimentalBrca1 , Xrcc3
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy SyndromePold1
MelanomaAtm , Brca2 , Xrcc3
Melanoma, Cutaneous MalignantBrca2
Melanoma, Cutaneous Malignant, Susceptibility To, 1Brca2
Melanoma, Cutaneous Malignant, Susceptibility To, 6Xrcc3
Metabolic DiseasesNbn
Metabolic Syndrome XAtm
Microcephaly with Mental Retardation and Digital AnomaliesRbbp8
Microcephaly, Primary Autosomal Recessive, 5Brca2
Micronuclei, Chromosome-DefectiveRad51
Mirror Movements 2Rad51
Mitochondrial MyopathiesDna2
Miyoshi Muscular Dystrophy 3Brca2
Mouth DiseasesBrca1
Multiple Acyl Coenzyme A Dehydrogenase DeficiencyBrca2
Muscular Dystrophy Congenital, Merosin NegativeAtm , Brca1
Muscular Dystrophy, Limb-Girdle, Type 2ABrca1
Muscular Dystrophy, Limb-Girdle, Type 2BBrca2 , Nbn
Muscular Dystrophy, Limb-Girdle, Type 2LBrca2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11Brca1
Myocardial InfarctionAtm , Rad50
Myoclonic Epilepsy, Familial InfantileBrca2
Myopathy, Central CorePold1
Neoplasm InvasivenessXrcc3
Neoplasm Recurrence, LocalNbn
NeoplasmsAtm , Brca1 , Rad54l
Neoplasms, Squamous CellBrca2
Neoplastic Syndromes, HereditaryAtm , Blm , Brca1 , Brca2 , Mre11a , Nbn , Pold1 , Rad50 , Rad51b , Rad51c , Rad51d , Xrcc2
Nephronophthisis 3Brca2
Neurocutaneous SyndromesMre11a
Nijmegen Breakage SyndromeNbn
Nijmegen Breakage Syndrome-Like DisorderRad50
Oculocutaneous Albinism, Type IVBrca2
Oculootofacial DysplasiaNbn
Orofaciodigital Syndrome 6Brca1
ovarian cancerBrca1 , Brca2
Ovarian NeoplasmsBrca1 , Brca2 , Mre11a , Nbn , Rad51 , Rad51c , Rad51d
pancreatic carcinoma Rbbp8
Pancreatic NeoplasmsAtm , Brca1 , Brca2 , Rad51 , Rad54l , Rbbp8 , Xrcc2 , Xrcc3
Parkinson DiseaseAtm
Pituitary Dwarfism 1Brca2 , Dna2
Pleomorphic Xanthoastrocytoma Pold2 , Sem1
Plummer-Vinson SyndromeRbbp8
Porokeratosis punctata palmaris et plantarisBrca1
Precancerous ConditionsAtm
Precursor Cell Lymphoblastic Leukemia-LymphomaNbn
Prenatal Exposure Delayed EffectsAtm
prostate cancerBrca1 , Brca2 , Nbn , Rad50
Prostatic Intraepithelial NeoplasiaAtm
Prostatic NeoplasmsAtm , Brca1 , Brca2 , Nbn , Rad50
Retinitis pigmentosa 26Brca2
RhabdomyosarcomaBrca1 , Brca2
Seckel syndromeRbbp8
Seckel Syndrome 2Rbbp8
Severe Combined Immunodeficiency due to Adenosine Deaminase DeficiencyBrca1
Skin DiseasesSsbp1
Skin NeoplasmsXrcc3
Smith-Magenis SyndromeBrca1 , Eme1 , Rad51c , Rad51d , Top3a
Spastic Paraplegia 7, Autosomal RecessiveAtm , Brca2
Spastic Paraplegia Type 7Atm , Brca2
Spinal Cord InjuriesAtm , Brca2
Stargardt diseaseBrca2 , Rad50
Stargardt disease 1Brca2 , Rad50
Status EpilepticusAtm
Stomach NeoplasmsAtm , Mre11a , Xrcc3
Substance-Related DisordersRad51b
Triple Negative Breast NeoplasmsMre11a
Tumor Predisposition SyndromeAtm , Brca1 , Brca2 , Mre11a , Nbn , Rad50 , Rad51c , Rad51d
Urinary Bladder NeoplasmsAtm , Brca1 , Mre11a
Urologic NeoplasmsRad50
Uterine Cervical NeoplasmsBrca1
Uterine NeoplasmsBrca2
Uveal MelanomaBrca2
Ventricular Dysfunction, LeftAtm
Wilms TumorBrca2
Pathway Annotations Associated with Genes in the homologous recombination pathway of double-strand break repair
Phenotype Annotations Associated with Genes in the homologous recombination pathway of double-strand break repair

References Associated with the homologous recombination pathway of double-strand break repair:

Ontology Path Diagram:

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