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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Breast carcinoma Likely pathogenic rs764640893 RCV001663392
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial prostate cancer Likely pathogenic rs560785131 RCV005899657
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (10 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia GENOMICS_ENGLAND_DG 28297620
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 17922422
★☆☆☆☆
Found in Text Mining only
Anemia Hemolytic Hemolytic anemia Pubtator 27208205 Associate
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★☆☆☆☆
Found in Text Mining only
Astigmatism Astigmatism HPO_DG
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 30566856 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Azoospermia Azoospermia HPO_DG
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm BEFREE 17557904
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only