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 recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a nu... See more...

Aliases for XRCC2 Gene

Aliases for XRCC2 Gene

  • X-Ray Repair Cross Complementing 2 2 3 5
  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 2 2 3
  • X-Ray Repair Cross-Complementing Protein 2 3 4
  • DNA Repair Protein XRCC2 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • RAD51-Like 2
  • FANCU 3

External Ids for XRCC2 Gene

Previous GeneCards Identifiers for XRCC2 Gene

  • GC07M150590
  • GC07M151658
  • GC07M151735
  • GC07M151781
  • GC07M151974
  • GC07M152341
  • GC07M146154

Summaries for XRCC2 Gene

Entrez Gene Summary for XRCC2 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 recombination and it functionally complements Chinese hamster irs1, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents. [provided by RefSeq, Jul 2008]

GeneCards Summary for XRCC2 Gene

XRCC2 (X-Ray Repair Cross Complementing 2) is a Protein Coding gene. Diseases associated with XRCC2 include Fanconi Anemia, Complementation Group U and Hereditary Breast Ovarian Cancer Syndrome. Among its related pathways are Homologous DNA Pairing and Strand Exchange and DNA Double-Strand Break Repair. Gene Ontology (GO) annotations related to this gene include DNA-dependent ATPase activity and four-way junction DNA binding. An important paralog of this gene is RAD51C.

UniProtKB/Swiss-Prot Summary for XRCC2 Gene

  • Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA.

Gene Wiki entry for XRCC2 Gene

Additional gene information for XRCC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XRCC2 Gene

Genomics for XRCC2 Gene

GeneHancer (GH) Regulatory Elements for XRCC2 Gene

Promoters and enhancers for XRCC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around XRCC2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XRCC2

Top Transcription factor binding sites by QIAGEN in the XRCC2 gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB
  • GATA-3
  • GR
  • GR-alpha
  • GR-beta
  • HEN1
  • ISGF-3
  • PPAR-alpha

Genomic Locations for XRCC2 Gene

Genomic Locations for XRCC2 Gene
chr7:152,644,776-152,676,165
(GRCh38/hg38)
Size:
31,390 bases
Orientation:
Minus strand
chr7:152,341,864-152,373,250
(GRCh37/hg19)
Size:
31,387 bases
Orientation:
Minus strand

Genomic View for XRCC2 Gene

Genes around XRCC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XRCC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XRCC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XRCC2 Gene

Proteins for XRCC2 Gene

  • Protein details for XRCC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43543-XRCC2_HUMAN
    Recommended name:
    DNA repair protein XRCC2
    Protein Accession:
    O43543
    Secondary Accessions:
    • B2R925

    Protein attributes for XRCC2 Gene

    Size:
    280 amino acids
    Molecular mass:
    31956 Da
    Quaternary structure:
    • Interacts with RAD51D. Part of the BCDX2 complex consisting of RAD51B, RAD51C, RAD51D and XRCC2; the complex has a ring-like structure arranged into a flat disc around a central channel. In the absence of DNA, the BCDX2 subcomplex XRCC2:RAD51D formed a multimeric ring structure; in the presence of single-stranded DNA it formed a filamentous structure with the ssDNA.

neXtProt entry for XRCC2 Gene

Post-translational modifications for XRCC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for XRCC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for XRCC2 Gene

Domains & Families for XRCC2 Gene

Gene Families for XRCC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for XRCC2 Gene

Suggested Antigen Peptide Sequences for XRCC2 Gene

GenScript: Design optimal peptide antigens:
  • X-ray repair cross-complementing protein 2 (XRCC2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43543

UniProtKB/Swiss-Prot:

XRCC2_HUMAN :
  • Belongs to the RecA family. RAD51 subfamily.
Family:
  • Belongs to the RecA family. RAD51 subfamily.
genes like me logo Genes that share domains with XRCC2: view

Function for XRCC2 Gene

Molecular function for XRCC2 Gene

UniProtKB/Swiss-Prot Function:
Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair chromosomal fragmentation, translocations and deletions. Part of the Rad21 paralog protein complex BCDX2 which acts in the BRCA1-BRCA2-dependent HR pathway. Upon DNA damage, BCDX2 acts downstream of BRCA2 recruitment and upstream of RAD51 recruitment. BCDX2 binds predominantly to the intersection of the four duplex arms of the Holliday junction and to junction of replication forks. The BCDX2 complex was originally reported to bind single-stranded DNA, single-stranded gaps in duplex DNA and specifically to nicks in duplex DNA.
GENATLAS Biochemistry:
repair X-ray defect complementing defect in CHO cells,2,promoting the repair of DNA double strand breaks by homologous recombination

Phenotypes From GWAS Catalog for XRCC2 Gene

Gene Ontology (GO) - Molecular Function for XRCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000400 contributes_to four-way junction DNA binding IDA,IBA 20207730
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 10749867
GO:0005524 ATP binding IEA --
GO:0008094 DNA-dependent ATPase activity IEA --
genes like me logo Genes that share ontologies with XRCC2: view
genes like me logo Genes that share phenotypes with XRCC2: view

Human Phenotype Ontology for XRCC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for XRCC2 Gene

MGI Knock Outs for XRCC2:

miRNA for XRCC2 Gene

miRTarBase miRNAs that target XRCC2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for XRCC2 Gene

Localization for XRCC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XRCC2 Gene

Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XRCC2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for XRCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005657 replication fork IDA,IBA 20207730
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IBA,IDA 21276791
genes like me logo Genes that share ontologies with XRCC2: view

Pathways & Interactions for XRCC2 Gene

genes like me logo Genes that share pathways with XRCC2: view

Gene Ontology (GO) - Biological Process for XRCC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle IMP 21276791
GO:0000724 double-strand break repair via homologous recombination IBA,IMP 23149936
GO:0001701 in utero embryonic development IEA --
GO:0001756 somitogenesis IEA --
GO:0006281 DNA repair IGI 10422536
genes like me logo Genes that share ontologies with XRCC2: view

No data available for SIGNOR curated interactions for XRCC2 Gene

Drugs & Compounds for XRCC2 Gene

(4) Drugs for XRCC2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with XRCC2: view

Transcripts for XRCC2 Gene

mRNA/cDNA for XRCC2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for XRCC2 Gene

No ASD Table

Relevant External Links for XRCC2 Gene

GeneLoc Exon Structure for
XRCC2

Expression for XRCC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for XRCC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XRCC2 Gene

This gene is overexpressed in Testis (x5.3).

Protein differential expression in normal tissues from HIPED for XRCC2 Gene

This gene is overexpressed in Heart (54.9) and Lung (13.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for XRCC2 Gene



Protein tissue co-expression partners for XRCC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XRCC2

SOURCE GeneReport for Unigene cluster for XRCC2 Gene:

Hs.647093

Evidence on tissue expression from TISSUES for XRCC2 Gene

  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for XRCC2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • reproductive
  • skeletal muscle
Regions:
Thorax:
  • breast
genes like me logo Genes that share expression patterns with XRCC2: view

No data available for mRNA Expression by UniProt/SwissProt for XRCC2 Gene

Orthologs for XRCC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for XRCC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XRCC2 31 30
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia XRCC2 31 30
  • 86.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia XRCC2 31 30
  • 84.95 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia XRCC2 31
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xrcc2 30
  • 79.62 (n)
mouse
(Mus musculus)
Mammalia Xrcc2 17 31 30
  • 79.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia XRCC2 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves XRCC2 31 30
  • 73.38 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XRCC2 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xrcc2 30
  • 62.58 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC553395 30
  • 57.67 (n)
XRCC2 31
  • 47 (a)
OneToOne
Species where no ortholog for XRCC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for XRCC2 Gene

ENSEMBL:
Gene Tree for XRCC2 (if available)
TreeFam:
Gene Tree for XRCC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for XRCC2: view image

Paralogs for XRCC2 Gene

Paralogs for XRCC2 Gene

(1) SIMAP similar genes for XRCC2 Gene using alignment to 1 proteins:

  • XRCC2_HUMAN
genes like me logo Genes that share paralogs with XRCC2: view

Variants for XRCC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XRCC2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
636233 Pathogenic: Hereditary breast and ovarian cancer syndrome 152,648,807(-) A/AT NONSENSE
639254 Uncertain Significance: not provided 152,648,757(-) T/G MISSENSE_VARIANT
643936 Uncertain Significance: not provided 152,648,899(-) G/T MISSENSE_VARIANT
645898 Uncertain Significance: not provided 152,649,123(-) C/T MISSENSE_VARIANT
646190 Uncertain Significance: not provided 152,649,176(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for XRCC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for XRCC2 Gene

Variant ID Type Subtype PubMed ID
dgv3695n106 OTHER inversion 24896259
esv1178351 CNV insertion 17803354
esv1318404 CNV insertion 17803354
esv2644156 CNV insertion 19546169
nsv1017565 CNV gain 25217958
nsv1067934 OTHER inversion 25765185
nsv1151906 OTHER inversion 26484159
nsv475301 CNV novel sequence insertion 20440878
nsv831193 CNV loss 17160897

Variation tolerance for XRCC2 Gene

Residual Variation Intolerance Score: 45.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XRCC2 Gene

Human Gene Mutation Database (HGMD)
XRCC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XRCC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XRCC2 Gene

Disorders for XRCC2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for XRCC2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search XRCC2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

XRCC2_HUMAN
  • Fanconi anemia, complementation group U (FANCU) [MIM:617247]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:22232082}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for XRCC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with XRCC2: view

No data available for Genatlas for XRCC2 Gene

Publications for XRCC2 Gene

  1. Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51. (PMID: 20004634) Silva SN … Gaspar JF (Cancer epidemiology 2010) 3 23 41 54
  2. A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. (PMID: 19116388) Vineis P … Matullo G (Journal of the National Cancer Institute 2009) 3 23 41 54
  3. An investigation on the polymorphisms of two DNA repair genes and susceptibility to ESCC and GCA of high-incidence region in northern China. (PMID: 18046624) Wang N … Li Y (Molecular biology reports 2009) 3 23 41 54
  4. International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways. (PMID: 18990748) Hung RJ … Brennan P (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2008) 3 23 41 54
  5. Genotype-phenotype relationship between DNA repair gene genetic polymorphisms and DNA repair capacity. (PMID: 18990028) Shin A … Kang D (Asian Pacific journal of cancer prevention : APJCP 2008) 3 23 41 54

Products for XRCC2 Gene

Sources for XRCC2 Gene