The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels... See more...

Aliases for XRCC6 Gene

Aliases for XRCC6 Gene

  • X-Ray Repair Cross Complementing 6 2 3 5
  • X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 6 2 3 4
  • X-Ray Repair Cross-Complementing Protein 6 3 4
  • Thyroid Autoantigen 70kDa (Ku Antigen) 2 3
  • ATP-Dependent DNA Helicase 2 Subunit 1 3 4
  • Thyroid Autoantigen 70kD (Ku Antigen) 2 3
  • 5'-Deoxyribose-5-Phosphate Lyase Ku70 3 4
  • Lupus Ku Autoantigen Protein P70 3 4
  • 70 KDa Subunit Of Ku Antigen 3 4
  • DNA Repair Protein XRCC6 3 4
  • Ku Autoantigen, 70kDa 2 3
  • 5'-DRP Lyase Ku70 3 4
  • G22P1 3 4
  • CTC75 3 4
  • CTCBF 3 4
  • TLAA 3 4
  • ATP-Dependent DNA Helicase II, 70 KDa Subunit 3
  • ATP-Dependent DNA Helicase II 70 KDa Subunit 4
  • CTC Box Binding Factor 75 KDa Subunit 3
  • CTC Box-Binding Factor 75 KDa Subunit 4
  • Thyroid-Lupus Autoantigen P70 3
  • Ku Autoantigen P70 Subunit 3
  • Thyroid-Lupus Autoantigen 4
  • EC 4.2.99.- 4
  • EC 3.6.4.- 4
  • KU70 3
  • Ku70 4
  • ML8 3

External Ids for XRCC6 Gene

Previous HGNC Symbols for XRCC6 Gene

  • G22P1

Previous GeneCards Identifiers for XRCC6 Gene

  • GC22P040342
  • GC22P042017
  • GC22P024982

Summaries for XRCC6 Gene

Entrez Gene Summary for XRCC6 Gene

  • The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent helicase. The complex may be involved in the repair of nonhomologous DNA ends such as that required for double-strand break repair, transposition, and V(D)J recombination. High levels of autoantibodies to p70 and p80 have been found in some patients with systemic lupus erythematosus. [provided by RefSeq, Jul 2008]

GeneCards Summary for XRCC6 Gene

XRCC6 (X-Ray Repair Cross Complementing 6) is a Protein Coding gene. Diseases associated with XRCC6 include Lupus Erythematosus and Nijmegen Breakage Syndrome. Among its related pathways are Innate Immune System and Cytosolic sensors of pathogen-associated DNA. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding. An important paralog of this gene is XRCC5.

UniProtKB/Swiss-Prot Summary for XRCC6 Gene

  • Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. Required for osteocalcin gene expression. Probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP lyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand breaks. 5'-dRP lyase activity allows to 'clean' the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.

Gene Wiki entry for XRCC6 Gene

Additional gene information for XRCC6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for XRCC6 Gene

Genomics for XRCC6 Gene

GeneHancer (GH) Regulatory Elements for XRCC6 Gene

Promoters and enhancers for XRCC6 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 XRCC6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for XRCC6

Top Transcription factor binding sites by QIAGEN in the XRCC6 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • p300
  • POU2F1
  • POU2F1a
  • Sp1

Genomic Locations for XRCC6 Gene

Genomic Locations for XRCC6 Gene
chr22:41,621,119-41,664,048
(GRCh38/hg38)
Size:
42,930 bases
Orientation:
Plus strand
chr22:42,017,123-42,060,052
(GRCh37/hg19)
Size:
42,930 bases
Orientation:
Plus strand

Genomic View for XRCC6 Gene

Genes around XRCC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XRCC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XRCC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XRCC6 Gene

Proteins for XRCC6 Gene

  • Protein details for XRCC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12956-XRCC6_HUMAN
    Recommended name:
    X-ray repair cross-complementing protein 6
    Protein Accession:
    P12956
    Secondary Accessions:
    • B1AHC8
    • Q6FG89
    • Q9UCQ2
    • Q9UCQ3

    Protein attributes for XRCC6 Gene

    Size:
    609 amino acids
    Molecular mass:
    69843 Da
    Quaternary structure:
    • Heterodimer composed of XRCC5/Ku80 and XRCC6/Ku70. The dimer associates in a DNA-dependent manner with PRKDC to form the DNA-dependent protein kinase complex DNA-PK, and with the LIG4-XRCC4 complex to form the core of the non-homologous end joining (NHEJ) complex. Additional components of the NHEJ complex include NHEJ1/XLF and PAXX (PubMed:25574025, PubMed:25941166, PubMed:25670504). The dimer also associates with NAA15, and this complex binds to the osteocalcin promoter and activates osteocalcin expression. In addition, XRCC6 interacts with the osteoblast-specific transcription factors MSX2, RUNX2 and DLX5. Interacts with ELF3. Interacts with ATP23. The XRCC5/6 dimer associates in a DNA-dependent manner with APEX1. Binds to CDK9 isoform 2. Identified in a complex with DEAF1 and XRCC5. Interacts with DEAF1 (via the SAND domain); the interaction is direct and may be inhibited by DNA-binding (PubMed:10219089, PubMed:11493912, PubMed:12145306, PubMed:12509254, PubMed:12547193, PubMed:15075319, PubMed:20493174, PubMed:22442688, PubMed:8621488, PubMed:9742108). Interacts with CLU (By similarity). Interacts with NR4A3; the DNA-dependent protein kinase complex DNA-PK phosphorylates and activates NR4A3 and prevents NR4A3 ubiquitinylation and degradation (PubMed:25852083). Interacts with CYREN isoform 1 (CYREN-1) and isoform 4 (CYREN-2) (PubMed:24610814, PubMed:28959974). Interacts (via N-terminus) with HSF1 (via N-terminus); this interaction is direct and prevents XRCC5/XRCC6 heterodimeric binding and non-homologous end joining (NHEJ) repair activities induced by ionizing radiation (IR) (PubMed:26359349). Part of the HDP-RNP complex composed of at least HEXIM1, PRKDC, XRCC5, XRCC6, paraspeckle proteins (SFPQ, NONO, PSPC1, RBM14, and MATR3) and NEAT1 RNA (PubMed:28712728). Interacts with HMBOX1 (PubMed:23685356).
    • (Microbial infection) Interacts with human T-cell leukemia virus 1/HTLV-1 protein HBZ.
    Miscellaneous:
    • Individuals with systemic lupus erythematosus (SLE) and related disorders produce extremely large amounts of autoantibodies to XRCC5 and XRCC6. Existence of a major autoantigenic epitope or epitopes on the C-terminal 190 amino acids of XRCC6 containing the leucine repeat. The majority of autoantibodies to XRCC6 in most sera from patients with SLE seem to be reactive with this region.

    Three dimensional structures from OCA and Proteopedia for XRCC6 Gene

    Alternative splice isoforms for XRCC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for XRCC6 Gene

Post-translational modifications for XRCC6 Gene

  • Phosphorylation by PRKDC may enhance helicase activity. Phosphorylation of Ser-51 does not affect DNA repair.
  • ADP-ribosylated by PARP3.
  • Ubiquitination at Lys123, Lys129, Lys100, Lys114, Lys182, Lys238, Lys287, Lys317, Lys351, Lys357, Lys445, Lys451, Lys461, Lys565, Lys570, Lys575, and Lys605
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for XRCC6

No data available for DME Specific Peptides for XRCC6 Gene

Domains & Families for XRCC6 Gene

Gene Families for XRCC6 Gene

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

Protein Domains for XRCC6 Gene

Blocks:
  • DNA-binding SAP
  • Ku70/Ku80 C-terminal arm
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for XRCC6 Gene

GenScript: Design optimal peptide antigens:
  • X-ray repair complementing defective repair in Chinese hamster cells 6 (Ku autoantigen, 70kDa) (B1AHC7_HUMAN)
  • cDNA FLJ31224 fis, clone KIDNE2004305, highly similar to ATP-dependent DNA helicase 2 subunit 1 (EC 3.6.1.-) (B1AHC8_HUMAN)
  • X-ray repair complementing defective repair in Chinese hamster cells 6 (Ku autoantigen, 70kDa) (B1AHC9_HUMAN)
  • G22P1 protein (Q6IC76_HUMAN)
  • X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12956

UniProtKB/Swiss-Prot:

XRCC6_HUMAN :
  • Belongs to the ku70 family.
Family:
  • Belongs to the ku70 family.
genes like me logo Genes that share domains with XRCC6: view

Function for XRCC6 Gene

Molecular function for XRCC6 Gene

UniProtKB/Swiss-Prot Function:
Single-stranded DNA-dependent ATP-dependent helicase. Has a role in chromosome translocation. The DNA helicase II complex binds preferentially to fork-like ends of double-stranded DNA in a cell cycle-dependent manner. It works in the 3'-5' direction. Binding to DNA may be mediated by XRCC6. Involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination. The XRCC5/6 dimer acts as regulatory subunit of the DNA-dependent protein kinase complex DNA-PK by increasing the affinity of the catalytic subunit PRKDC to DNA by 100-fold. The XRCC5/6 dimer is probably involved in stabilizing broken DNA ends and bringing them together. The assembly of the DNA-PK complex to DNA ends is required for the NHEJ ligation step. Required for osteocalcin gene expression. Probably also acts as a 5'-deoxyribose-5-phosphate lyase (5'-dRP lyase), by catalyzing the beta-elimination of the 5' deoxyribose-5-phosphate at an abasic site near double-strand breaks. 5'-dRP lyase activity allows to 'clean' the termini of abasic sites, a class of nucleotide damage commonly associated with strand breaks, before such broken ends can be joined. The XRCC5/6 dimer together with APEX1 acts as a negative regulator of transcription. Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway.
UniProtKB/Swiss-Prot Induction:
In osteoblasts, by FGF2.

Enzyme Numbers (IUBMB) for XRCC6 Gene

Phenotypes From GWAS Catalog for XRCC6 Gene

Gene Ontology (GO) - Molecular Function for XRCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding NAS,IEA 1537839
GO:0003678 DNA helicase activity IEA --
GO:0003684 damaged DNA binding IEA --
GO:0003690 contributes_to double-stranded DNA binding IBA,TAS 21873635
GO:0003691 contributes_to double-stranded telomeric DNA binding IDA 10409678
genes like me logo Genes that share ontologies with XRCC6: view
genes like me logo Genes that share phenotypes with XRCC6: view

Animal Models for XRCC6 Gene

MGI Knock Outs for XRCC6:

Animal Model Products

CRISPR Products

miRNA for XRCC6 Gene

miRTarBase miRNAs that target XRCC6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XRCC6

Clone Products

  • Addgene plasmids for XRCC6

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for XRCC6 Gene

Localization for XRCC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XRCC6 Gene

Nucleus. Chromosome.

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 XRCC6 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
mitochondrion 3
plasma membrane 2
cytoskeleton 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for XRCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000783 nuclear telomere cap complex TAS 15100233
GO:0000784 nuclear chromosome, telomeric region IBA 21873635
GO:0005576 extracellular region TAS --
GO:0005634 nucleus TAS,IEA 10508516
GO:0005654 nucleoplasm IDA,TAS --
genes like me logo Genes that share ontologies with XRCC6: view

Pathways & Interactions for XRCC6 Gene

genes like me logo Genes that share pathways with XRCC6: view

Pathways by source for XRCC6 Gene

1 KEGG pathway for XRCC6 Gene
1 GeneGo (Thomson Reuters) pathway for XRCC6 Gene
  • DNA damage_NHEJ mechanisms of DSBs repair
2 Qiagen pathways for XRCC6 Gene
  • DNA Repair Mechanisms
  • Telomere Extension by Telomerase
1 Cell Signaling Technology pathway for XRCC6 Gene
1 GeneTex pathway for XRCC6 Gene

SIGNOR curated interactions for XRCC6 Gene

Activates:

Gene Ontology (GO) - Biological Process for XRCC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IEA,TAS 15824061
GO:0002218 activation of innate immune response IDA 28712728
GO:0002376 immune system process IEA --
GO:0006266 DNA ligation TAS 9826654
GO:0006281 DNA repair IEA --
genes like me logo Genes that share ontologies with XRCC6: view

Drugs & Compounds for XRCC6 Gene

(11) Drugs for XRCC6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for XRCC6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with XRCC6: view

Transcripts for XRCC6 Gene

mRNA/cDNA for XRCC6 Gene

4 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for XRCC6

Clone Products

  • Addgene plasmids for XRCC6

Alternative Splicing Database (ASD) splice patterns (SP) for XRCC6 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for XRCC6 Gene

GeneLoc Exon Structure for
XRCC6

Expression for XRCC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for XRCC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for XRCC6 Gene



Protein tissue co-expression partners for XRCC6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for XRCC6

SOURCE GeneReport for Unigene cluster for XRCC6 Gene:

Hs.292493

Evidence on tissue expression from TISSUES for XRCC6 Gene

  • Skin(5)
  • Nervous system(5)
  • Kidney(4.9)
  • Liver(4.9)
  • Lung(4.9)
  • Heart(4.7)
  • Intestine(4.7)
  • Blood(4.6)
  • Bone(4.4)
  • Eye(4.2)
  • Muscle(4.1)
  • Spleen(3.7)
  • Pancreas(3.6)
  • Stomach(2.6)
  • Bone marrow(2.3)
  • Lymph node(2.2)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with XRCC6: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for XRCC6 Gene

Orthologs for XRCC6 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XRCC6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XRCC6 31 30
  • 97.65 (n)
OneToOne
dog
(Canis familiaris)
Mammalia XRCC6 31 30
  • 87.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia XRCC6 31 30
  • 86.61 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Xrcc6 30
  • 83.17 (n)
mouse
(Mus musculus)
Mammalia Xrcc6 17 31 30
  • 82.34 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 79 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia XRCC6 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves XRCC6 31 30
  • 71.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XRCC6 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xrcc6 30
  • 66.21 (n)
Str.11953 30
African clawed frog
(Xenopus laevis)
Amphibia LOC398357 30
zebrafish
(Danio rerio)
Actinopterygii LOC100536337 30
  • 62.21 (n)
xrcc6 31
  • 58 (a)
OneToMany
OTTDARG00000020547 31
  • 58 (a)
OneToMany
wufi87b06 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6264 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002690 30
  • 45.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta Irbp 31 30
  • 40.48 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cku-70 31 30
  • 41.08 (n)
OneToOne
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C06226g 30
  • 39.74 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YKU70 33 31 30
  • 38.31 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons KU70 30
  • 44.17 (n)
rice
(Oryza sativa)
Liliopsida Os07g0184900 30
  • 43.93 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU08290 30
  • 42.54 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes pku70 30
  • 41.61 (n)
Species where no ortholog for XRCC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for XRCC6 Gene

ENSEMBL:
Gene Tree for XRCC6 (if available)
TreeFam:
Gene Tree for XRCC6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for XRCC6: view image

Paralogs for XRCC6 Gene

Paralogs for XRCC6 Gene

(1) SIMAP similar genes for XRCC6 Gene using alignment to 4 proteins:

  • XRCC6_HUMAN
  • B1AHC8_HUMAN
  • B1AHC9_HUMAN
  • F5H1I8_HUMAN
genes like me logo Genes that share paralogs with XRCC6: view

Variants for XRCC6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for XRCC6 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
779050 Benign: not provided 41,647,092(+) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for XRCC6 Gene

Structural Variations from Database of Genomic Variants (DGV) for XRCC6 Gene

Variant ID Type Subtype PubMed ID
esv3647801 CNV loss 21293372
nsv1055166 CNV gain 25217958
nsv524585 CNV loss 19592680
nsv834209 CNV loss 17160897
nsv964635 CNV duplication 23825009
nsv966111 CNV duplication 23825009

Variation tolerance for XRCC6 Gene

Residual Variation Intolerance Score: 8.05% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for XRCC6 Gene

Human Gene Mutation Database (HGMD)
XRCC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XRCC6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XRCC6 Gene

Disorders for XRCC6 Gene

MalaCards: The human disease database

(24) MalaCards diseases for XRCC6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lupus erythematosus
  • systemic lupus erythematosus
nijmegen breakage syndrome
  • nbs