Gene Gene information from NCBI Gene database.
Entrez ID 7516
Gene name X-ray repair cross complementing 2
Gene symbol XRCC2
Synonyms (NCBI Gene)
FANCUPOF17SPGF50
Chromosome 7
Chromosome location 7q36.1
Summary This gene encodes a member of the RecA/Rad51-related protein family that participates in homologous recombination to maintain chromosome stability and repair DNA damage. This gene is involved in the repair of DNA double-strand breaks by homologous recombi
SNPs SNP information provided by dbSNP.
16
SNP ID Visualize variation Clinical significance Consequence
rs143153871 G>A Conflicting-interpretations-of-pathogenicity, uncertain-significance Stop gained, coding sequence variant
rs151110146 G>A Pathogenic-likely-pathogenic, likely-pathogenic Coding sequence variant, stop gained
rs201836415 C>A,G Likely-pathogenic Splice acceptor variant
rs560785131 C>T Likely-pathogenic Splice donor variant
rs730882048 A>- Conflicting-interpretations-of-pathogenicity, pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
679
miRTarBase ID miRNA Experiments Reference
MIRT022131 hsa-miR-124-3p Microarray 18668037
MIRT028843 hsa-miR-26b-5p Microarray 19088304
MIRT054557 hsa-miR-7-5p Luciferase reporter assayqRT-PCRWestern blot 24570594
MIRT713817 hsa-miR-3133 HITS-CLIP 19536157
MIRT713816 hsa-miR-186-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
44
GO ID Ontology Definition Evidence Reference
GO:0000278 Process Mitotic cell cycle IMP 21276791
GO:0000400 Function Four-way junction DNA binding IBA
GO:0000400 Function Four-way junction DNA binding IDA 20207730
GO:0000724 Process Double-strand break repair via homologous recombination IBA
GO:0000724 Process Double-strand break repair via homologous recombination IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600375 12829 ENSG00000196584
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43543
Protein name DNA repair protein XRCC2 (X-ray repair cross-complementing protein 2)
Protein function Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the RAD51 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-depend
PDB 8FAZ , 8GBJ , 8OUY , 8OUZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08423 Rad51 38 280 Rad51 Domain
Sequence
Sequence length 280
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Homologous recombination   HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Presynaptic phase of homologous DNA pairing and strand exchange
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
621
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Breast carcinoma Likely pathogenic rs764640893 RCV001663392
Familial prostate cancer Likely pathogenic rs560785131 RCV005899657
Hereditary cancer-predisposing syndrome Likely pathogenic; Pathogenic rs1064794088, rs2485881210, rs2485880908, rs2485882087, rs2098027525, rs2485881817, rs2485915620, rs2485881405, rs2485881992, rs1064793297, rs560785131, rs1064793295, rs1590129487, rs201836415, rs764640893 RCV002363888
RCV002340537
RCV002360114
RCV002403816
RCV002401648
RCV002450253
RCV002426242
RCV003296719
RCV003377784
RCV004521373
RCV001021395
RCV002435642
RCV001023237
RCV001010393
RCV002451408
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon cancer Conflicting classifications of pathogenicity rs61762969 RCV000211556
Colorectal cancer Conflicting classifications of pathogenicity rs368445278 RCV000417310
Fanconi anemia complementation group U Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign rs140214637, rs61762969, rs587780130, rs149186933, rs145085742, rs41274991, rs56103026, rs149099078, rs730882043, rs3218472, rs534746330, rs143856570, rs200363289, rs2485880314, rs762828701
View all (18 more)
RCV000988018
RCV000988014
RCV005031608
RCV005031609
RCV000988009
RCV000988020
RCV000988015
RCV000765951
RCV001330061
RCV003316162
RCV000988011
RCV000988016
RCV000988021
RCV003142303
RCV000988013
RCV000765952
RCV003316531
RCV000022966
RCV005055112
RCV001292718
RCV005034015
RCV000988017
RCV001251190
RCV005034145
RCV002483544
RCV004760626
RCV003316748
RCV000988010
RCV000988012
RCV005392320
RCV000988019
RCV005047216
RCV005036295
Hereditary breast ovarian cancer syndrome Uncertain significance; Conflicting classifications of pathogenicity rs1064795954, rs1590129294 RCV001030743
RCV000787936
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26383589
Anemia Hemolytic Associate 27208205
Ataxia Telangiectasia Associate 30566856
Breast Neoplasms Associate 21290343, 21701125, 22464251, 23441864, 24642895, 25556451, 26787654, 29255180, 29433565, 30180900, 31370865, 31463769, 35061678, 35691022, 37774058
View all (1 more)
Carcinoma Hepatocellular Associate 32258128, 32277685
Carcinoma Non Small Cell Lung Associate 21647442
Carcinoma Pancreatic Ductal Associate 35171259
Colorectal Neoplasms Associate 21104022, 28977800, 29748531, 32277685, 32458654
Developmental Disabilities Associate 29061174
Disease Associate 30712190