Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7516
Gene name Gene Name - the full gene name approved by the HGNC.
X-ray repair cross complementing 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
XRCC2
Synonyms (NCBI Gene) Gene synonyms aliases
FANCU, POF17, SPGF50
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 assay, qRT-PCR, Western blot 24570594
MIRT713817 hsa-miR-3133 HITS-CLIP 19536157
MIRT713816 hsa-miR-186-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600375 12829 ENSG00000196584
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Breast Cancer breast cancer N/A N/A GenCC
Breast Carcinoma breast carcinoma, hereditary breast carcinoma N/A N/A ClinVar, GenCC
colon cancer Colon cancer N/A N/A ClinVar
Associations from Text Mining Disease 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