HOMOLOGOUS RECOMBINATION PATHWAY OF DOUBLE-STRAND BREAK REPAIR (PW:0000202)

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Description

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
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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 BLM 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
RGD:8661237
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:6907045
RGD:8662366
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
RGD:8662366
RGD:6907045
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
RGD:8662366
RGD:6907045
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
RGD:8662366
RGD:6907045
G Rad51 RAD51 recombinase JBrowse link 3 110,918,240 110,942,920 RGD:6907045
RGD:8662366
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
RGD:8662366
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 JBrowse link 5 25,140,531 25,214,469 RGD:6907045
RGD:8662366
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
RGD:8662366
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
Acute Liver FailureAtm
acute lymphocytic leukemiaNbn
adenoid cystic carcinomaAtm , Brca1
adenosine deaminase deficiencyBrca1
Alzheimer's diseaseAtm , Mre11a , Nbn
Animal Disease ModelsMre11a
Animal Mammary NeoplasmsBrca1
aplastic anemiaNbn
ARC syndromeBrca2
Arsenic PoisoningSsbp1
arterial tortuosity syndromeMus81
arteriosclerosisAtm
asthmaRad50
astrocytomaMre11a
ataxia telangiectasiaAtm
Ataxia Telangiectasia Like DisorderMre11a
Ataxia-Telangiectasia VariantAtm
Ataxia-Telangiectasia-Like Disorder 1Mre11a
autistic disorderTop3a , Top3b , Xrcc2
Autosomal Recessive Cutis LaxaMus81
autosomal recessive cutis laxa type IAMus81
autosomal recessive cutis laxa type IBMus81
autosomal recessive limb-girdle muscular dystrophy type 2ABrca1
autosomal recessive limb-girdle muscular dystrophy type 2BRad51c
autosomal recessive limb-girdle muscular dystrophy type 2LBrca2
autosomal recessive nonsyndromic deafness 9Brca2
B-Cell Chronic Lymphocytic LeukemiaAtm
B-cell lymphomaAtm
basal cell carcinomaXrcc3
bilateral breast cancerAtm
Bloom syndromeBlm
breast cancerAtm , Brca1 , Brca2 , Nbn , Rad51 , Rad54l , Xrcc3
Breast Cancer, FamilialAtm , Blm , Brca1 , Brca2 , Nbn , Rad50 , Rad51 , Rad51c
breast carcinomaAtm , Brca1 , Brca2 , Mre11a
breast ductal carcinomaBrca1 , Brca2 , Rad54l
Breast NeoplasmsAtm , Brca1 , Brca2 , Exo1 , Rad50 , Rad51 , Rad51b , Rad51c , Rad54l , Xrcc2 , Xrcc3
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
carcinomaBrca1
cardiomyopathyRad51
cataractAtm , Brca2
Cell Transformation, NeoplasticBrca1
cerebellar ataxiaAtm
cervical cancerBrca1
cervix uteri carcinoma in situBrca1
ChloracneRpa1
Chromosome BreakageBrca1
Chromosome DeletionRad51d
colon adenocarcinomaRad54l
colon cancerBrca1 , Pold1 , Rad54b , Xrcc2
colon carcinomaBrca2 , Pold1 , Rad54b
Colonic NeoplasmsMre11a
colorectal cancerPold1 , Rad54b , Xrcc2
COLORECTAL CANCER 10 Pold1
Colorectal NeoplasmsExo1 , Pold1 , Pold3 , Rad54b
Congenital Disorder of Glycosylation Type 1IBrca2
congenital myasthenic syndromeBrca1 , Brca2
congenital myasthenic syndrome 10Brca1 , Brca2
Cutaneous Malignant Melanoma, Susceptibility To, 6Xrcc3
cutaneous T cell lymphomaAtm
DeafnessPold1
dementiaMre11a
dilated cardiomyopathyAtm
dilated cardiomyopathy 1GBrca2
disease of cellular proliferationAtm , Brca1 , Rad54l
disease of metabolismNbn
ductal carcinoma in situBrca2
dysgerminomaBrca1
dystoniaMre11a
endometrial cancerAtm , Brca2 , Mre11a
Endometrial NeoplasmsPold1
esophageal cancerBrca2
esophageal carcinomaBrca2
Esophageal NeoplasmsXrcc3
esophagus squamous cell carcinomaBrca2
Experimental Liver NeoplasmsRad51
Familial Prostate CancerAtm
Fanconi anemiaBrca1 , Brca2 , Rad51c
Fanconi anemia complementation group ABrca1
Fanconi anemia complementation group D1Brca2
Fanconi anemia complementation group ORad51c
Fanconi anemia complementation group RRad51
Fanconi anemia complementation group UXrcc2
FibrosisAtm
genetic diseaseAtm , Brca2 , Rad51 , Rad51d , Rad54l
Genetic Predisposition to DiseaseRad51 , Xrcc3
glioblastoma multiformeAtm
GM1 gangliosidosisBrca2
GM1 gangliosidosis type 1Brca2
Head and Neck NeoplasmsRad51 , Xrcc3
hematopoietic system diseaseBrca2
hepatocellular carcinomaAtm , Exo1 , Rad54l
hereditary breast ovarian cancer syndromeAtm , Brca1 , Brca2 , Mre11a , Nbn , Rad51b , Rad51c , Rad51d
Hereditary Neoplastic SyndromesAtm , Blm , Brca1 , Brca2 , Mre11a , Nbn , Pold1 , Rad50 , Rad51b , Rad51c , Rad51d , Xrcc2
hereditary sensory and autonomic neuropathy type 2Rad52
hereditary spastic paraplegia 11Brca2
hereditary spastic paraplegia 7Brca2
HypercholesterolemiaAtm
HyperplasiaBrca1
hypertensionBrca1 , Rad51
hypertrophic cardiomyopathy 9Brca2
hypogonadismPold1
HypoxiaRad51
infertilityAtm , Brca2
Insulin ResistanceAtm
invasive ductal carcinomaBrca1 , Brca2 , Rad50 , Rad54l
isolated growth hormone deficiency type IABrca2 , Dna2
Jaw AbnormalitiesPold1
Kidney Reperfusion InjuryAtm
Lead PoisoningXrcc3
leukemiaAtm
lipodystrophyPold1
lissencephalyNbn
liver cirrhosisRad50
Lung NeoplasmsBrca2 , Rad52
lymphomaAtm
male breast cancerBrca2
Male Breast NeoplasmsBrca2 , Rad51b
malignant gliomaBrca2
Mammary Neoplasms, ExperimentalBrca1 , Xrcc3
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy SyndromePold1
mantle cell lymphomaAtm
Marfan syndromeMus81
medulloblastomaBrca2
melanomaAtm , Blm , Brca2 , Nbn , Xrcc3
mental depressionMre11a
MesotheliomaXrcc3
Metabolic SyndromeAtm
microcephalyNbn
Microcephaly with Mental Retardation and Digital AnomaliesRbbp8
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2Top3a
Micronuclei, Chromosome-DefectiveRad51
migraineBrca2
Mirror Movements 2Rad51
mitochondrial metabolism diseaseTop3a
mitochondrial myopathyDna2
Miyoshi muscular dystrophy 3Brca2
mouth diseaseBrca1
Multiple AbnormalitiesAtm , Pold1 , Rad51d , Rad54l
multiple acyl-CoA dehydrogenase deficiencyBrca2
Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 11Brca1
myocardial infarctionAtm , Rad50
Myoclonic EpilepsiesBrca2
Myoclonic Epilepsy, Familial InfantileBrca2
Neoplasm InvasivenessXrcc3
Neoplasm Recurrence, LocalNbn
nephroblastomaBrca2
neuroblastomaBrca2
Neurocutaneous SyndromesMre11a
Nijmegen breakage syndromeNbn
Nijmegen Breakage Syndrome-Like DisorderRad50
non-Hodgkin lymphomaRad54b , Rad54l
oculocutaneous albinism type IVBrca2
Oculomotor Apraxia, Cogan TypeAtm
osteoporosisAtm
osteosarcomaBrca2
ovarian cancerBrca1 , Brca2 , Mre11a , Nbn , Rad51
Ovarian NeoplasmsBrca1 , Brca2 , Mre11a , Rad51c , Rad51d
ovary epithelial cancerRad51
ovary serous adenocarcinomaBrca1 , Brca2
pancreatic cancerAtm , Brca1 , Brca2 , Rad51 , Rad54l , Rbbp8 , Xrcc2 , Xrcc3
pancreatic carcinomaBrca1 , Rbbp8
pancreatic endocrine carcinomaBrca2
papillary renal cell carcinomaAtm
Parkinson's diseaseAtm
Parkinsonian DisordersMre11a
peripheral T-cell lymphomaAtm
pleomorphic xanthoastrocytomaPold2 , Sem1
Plummer-Vinson SyndromeRbbp8
Porokeratosis 2, Palmar, Plantar, and Disseminated TypeBrca1
Potocki-Lupski syndromeTop3a
pre-malignant neoplasmAtm
precursor B lymphoblastic lymphoma/leukemiaBrca2
precursor lymphoblastic lymphoma/leukemiaNbn
Premature AgingBrca1
premature ovarian failureNbn
Prenatal Exposure Delayed EffectsAtm
Prolymphocytic Leukemia, T-CellAtm
prostate cancerBrca1 , Brca2 , Nbn , Rad50
prostate carcinoma in situAtm
Prostatic NeoplasmsAtm , Brca1 , Brca2 , Mre11a , Nbn
pseudohypoaldosteronismRad52
Pseudovaginal Perineoscrotal HypospadiasBrca2
pulmonary emphysemaMus81
punctate palmoplantar keratoderma type IIBrca1
renal cell carcinomaAtm
retinitis pigmentosa 26Brca2
rhabdomyosarcomaBrca1 , Brca2
schizophreniaTop3b
Seckel syndromeRbbp8
Seckel syndrome 2Rbbp8
skin diseaseSsbp1
skin melanomaBrca2 , Xrcc3
Skin NeoplasmsXrcc3
Somatic Colonic AdenocarcinomaRad54l
Spastic Paraplegia Type 7Brca2
Spinal Cord InjuriesAtm , Brca2
split hand-foot malformation 1Sem1
squamous cell carcinomaAtm , Rad52 , Sem1
squamous cell neoplasmBrca2
Stargardt diseaseBrca2
Stargardt Disease 1Brca2
status epilepticusAtm
stomach carcinomaMre11a
Stomach NeoplasmsAtm , Xrcc3
stomatitisNbn
substance-related disorderRad51b
Tracheoesophageal FistulaBrca2
transitional cell carcinomaRad50
Triple Negative Breast NeoplasmsMre11a
Tumor Predisposition SyndromeAtm , Brca1 , Brca2 , Mre11a , Nbn , Rad50 , Rad51c , Rad51d
urinary bladder cancerAtm , Brca1 , Mre11a
Urinary Bladder NeoplasmMre11a
uterine corpus serous adenocarcinomaBrca2
uveal melanomaBrca2
Ventricular Dysfunction, LeftAtm
Wilson diseaseBrca2
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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