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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

XRCC3 Gene

protein-coding GIFtS: 60
GCID: GC14M104163

X-Ray Repair Complementing Defective Repair In Chinese Hamster...

Alzheimer's & Parkinson's Diseases Congress

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at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
X-Ray Repair Complementing Defective Repair In Chinese Hamster Cells 3¹ ²
X-Ray Repair Cross-Complementing Protein 3² ³
CMM6² ⁵
RAD51-like¹
DNA Repair Protein XRCC3²

External Ids:	HGNC: 12830¹	Entrez Gene: 7517²	Ensembl: ENSG00000126215⁷	OMIM: 600675⁵	UniProtKB: O43542³

Export aliases for XRCC3 gene to outside databases

Previous GC identifers: GC14M101555 GC14M097979 GC14M102153 GC14M103233 GC14M084342

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for XRCC3 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 functionally complements Chinese hamster

irs1SF, a repair-deficient mutant that exhibits hypersensitivity to a number of different DNA-damaging agents and

is chromosomally unstable. A rare microsatellite polymorphism in this gene is associated with cancer in patients

of varying radiosensitivity. Alternatively spliced transcript variants encoding the same protein have been

identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for XRCC3 Gene:

XRCC3 (X-ray repair complementing defective repair in Chinese hamster cells 3) is a protein-coding gene. Diseases associated with XRCC3 include mutagen sensitivity, and skin cancer, and among its related super-pathways are Fluoropyrimidine Pathway, Pharmacokinetics and Homologous recombination. GO annotations related to this gene include DNA-dependent ATPase activity and ATP binding.

UniProtKB/Swiss-Prot: XRCC3_HUMAN, O43542

Function: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair

chromosomal fragmentation, translocations and deletions. Plays a role in regulating mitochondrial DNA copy number

under conditions of oxidative stress in the presence of RAD51 and RAD51C

Gene Wiki entry for XRCC3 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000014.8 NT_026437.12 NC_018925.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the XRCC3 gene promoter:
CHOP-10 GR PPAR-gamma1 p53 GR-beta PPAR-gamma2 GR-alpha C/EBPalpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: XRCC3 promoter sequence

Search SABiosciences Chromatin IP Primers for XRCC3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XRCC3

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q32.3 Ensembl cytogenetic band: 14q32.33 HGNC cytogenetic band: 14q32.3

XRCC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XRCC3 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M104163: view genomic region (about GC identifiers)

Start:	104,163,946 bp from pter	End:	104,181,841 bp from pter
Size:	17,896 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: XRCC3_HUMAN, O43542 (See protein sequence)

Recommended Name: DNA repair protein XRCC3

Size: 346 amino acids; 37850 Da

Subunit: Interacts with RAD51C and RAD51. Part of a complex consisting of RAD51B, RAD51C, RAD51D, XRCC2 and XRCC3.

Forms a complex with FANCD2, BRCA2 and phosphorylated FANCG. Interacts with SWSAP1 and ZSWIM7; involved in

homologous recombination repair

Subcellular location: Nucleus. Cytoplasm. Cytoplasm, perinuclear region. Mitochondrion. Note=Accumulates in

discrete nuclear foci prior to DNA damage, and these foci persist throughout the time course of DNA repair

Secondary accessions: O43568 Q9BU18

Explore the universe of human proteins at neXtProt for XRCC3: NX_O43542

Explore proteomics data for XRCC3 at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_O43542

XRCC3 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001093588.1 NP_001093589.1 NP_005423.1

ENSEMBL proteins:

ENSP00000451362 ENSP00000343392 ENSP00000451974 ENSP00000452598 ENSP00000451361

ENSP00000473569 ENSP00000451118 ENSP00000451252 ENSP00000451173 ENSP00000452389

ENSP00000450780 ENSP00000450738 ENSP00000412990

Human Recombinant Protein Products for XRCC3:

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	Novus Biologicals XRCC3 Proteins Novus Biologicals XRCC3 Lysates
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for XRCC3

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	16215984
GO:0005737	cytoplasm	IDA	16215984
GO:0005739	mitochondrion	IDA	--
GO:0048471	perinuclear region of cytoplasm	IDA	16215984

XRCC3 for ontologies About GeneDecksing

XRCC3 Antibody Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

4 InterPro protein domains:

IPR020588 DNA_recomb_RecA/RadB_ATP-bd

IPR016467 DNA_recomb/repair_RecA-like

IPR027417 P-loop_NTPase

IPR013632 DNA_recomb/repair_Rad51_C

Graphical View of Domain Structure for InterPro Entry O43542

ProtoNet protein and cluster: O43542

UniProtKB/Swiss-Prot: XRCC3_HUMAN, O43542

Similarity: Belongs to the RecA family. RAD51 subfamily

XRCC3 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: XRCC3_HUMAN, O43542

Function: Involved in the homologous recombination repair (HRR) pathway of double-stranded DNA, thought to repair

chromosomal fragmentation, translocations and deletions. Plays a role in regulating mitochondrial DNA copy number

under conditions of oxidative stress in the presence of RAD51 and RAD51C

Induction: Stress-induced increase in the mitochondrial levels is seen

Genatlas biochemistry entry for XRCC3:

repair X-ray defect,complementing defect in CHO cells,3,involved in recombinational repair,interacting with RAD51

for maintenance of genomic integrity

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003899	DNA-directed RNA polymerase activity	IEA	--
GO:0005515	protein binding	IPI	--
GO:0005524	ATP binding	IEA	--
GO:0008094	DNA-dependent ATPase activity	IEA	--

XRCC3 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for XRCC3:

Synthetic lethal with cisplati

Upregulation of Wnt/beta-caten

Animal Models:

inGenious Targeting Laboratory - Custom generated mouse model solutions for XRCC3

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for XRCC3

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for XRCC3

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for XRCC3

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XRCC3
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for XRCC3
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for XRCC3
		Search LifeMap BioReagents cell lines for XRCC3

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC3

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for XRCC3 About

See pathways by source

SuperPath

Contained pathways About

Fluoropyrimidine Activity

Fluoropyrimidine Activity

0.69

Homologous recombination

Homologous recombination

0.40

Fluoropyrimidine Pathway, Pharmacodynamics

Fluoropyrimidine Pathway, Pharmacodynamics

Integrated Breast Cancer Pathway

Integrated Breast Cancer Pathway

Pathways by source See SuperPaths
Show all pathways

2 BioSystems Pathways for XRCC3

	Fluoropyrimidine Activity
	Integrated Breast Cancer Pathway

1 PharmGKB Pathway for XRCC3

Fluoropyrimidine Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for XRCC3):

Homologous recombination

XRCC3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for XRCC3

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/15 Interacting proteins for XRCC3 (O43542^{1, 3} ENSP00000343392⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 15)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FANCG	O15287³, ENSP00000367910⁴	I2D: score=3 STRING: ENSP00000367910
RAD51C	O43502³, ENSP00000336701⁴	I2D: score=3 STRING: ENSP00000336701
BRCA2	P51587³, ENSP00000369497⁴	I2D: score=1 STRING: ENSP00000369497
RAD51	Q06609³, ENSP00000267868⁴	I2D: score=1 STRING: ENSP00000267868
ZNHIT3	Q15649³, ENSP00000225410⁴	I2D: score=1 STRING: ENSP00000225410

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006259	DNA metabolic process	--	--
GO:0006281	DNA repair	IGI	10422536
GO:0006310	DNA recombination	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006974	response to DNA damage stimulus	TAS	7603995

XRCC3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

XRCC3 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for XRCC3

10/11 Novoseek inferred chemical compound relationships for XRCC3 gene (see all 11) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pcb 153	61	9	19069643 (2), 18948301 (1)
mitomycin c	42.3	3	7603995 (1), 17141189 (1)
cisplatin	33.2	8	15843498 (2), 16622263 (1), 17141189 (1)
folate	29	7	19177501 (2), 16997330 (2), 19360465 (1), 15066914 (1) (see all 5)
benzene	20.3	8	18095557 (3), 17535647 (2), 17605237 (2), 16728435 (1)
camptothecin	16.3	2	12584174 (2)
melphalan	13.1	7	11584063 (4), 15843498 (1)
n acetylcysteine	11.7	1	19069643 (1)
p003	1.68	2	12007561 (1), 12865926 (1)
methionine	0	2	17701750 (1), 12223443 (1)

Search CenterWatch for drugs/clinical trials and news about XRCC3

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for XRCC3 gene (3 alternative transcripts):

NM_001100118.1 NM_001100119.1 NM_005432.3

Unigene Clusters for XRCC3:

X-ray repair complementing defective repair in Chinese hamster cells 3

Hs.592325 [show with all ESTs], Hs.733412 [show with all ESTs]

Unigene Representative Sequences: BX368160, AK124498

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000554913(uc001yoa.4) ENST00000352127(uc001ynz.4) ENST00000554811

ENST00000553264 ENST00000555055(uc001ynx.4 uc001yny.4) ENST00000554974

ENST00000554774 ENST00000555451 ENST00000555832 ENST00000553807 ENST00000557439

ENST00000553361 ENST00000556980 ENST00000555964 ENST00000555231 ENST00000556682

ENST00000553332 ENST00000554170

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat XRCC3
		Search QIAGEN for miScript miRNA Assays for microRNAs that regulate XRCC3
		SwitchGear 3'UTR luciferase reporter plasmid: XRCC3 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector (see all 3): XRCC3 (NM_001100118)
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat XRCC3
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XRCC3

Additional mRNA sequence:

AF035586.1 AK022829.1 AK023646.1 AK124498.1 AK296465.1 BC001036.1 BC002949.1 BC011725.2

BT007417.1 BX161398.1

19 DOTS entries:

DT.99936700 DT.102838411 DT.100773069 DT.408842 DT.120790634 DT.75146282 DT.92051759 DT.100797026

DT.120790785 DT.100797028 DT.92063298 DT.432421 DT.120790878 DT.91974123 DT.95372736 DT.100693953

DT.100700104 DT.100762829 DT.95372738

24/151 AceView cDNA sequences (see all 151):

CR622268 BU182143 BX333561 AK126706 BM128018 CB150648 BC001036 AA595441

BX385078 BM976502 BC073820 BQ213513 AF035586 BM915097 BE396817 CR613005

BM796198 BX388125 AK022829 BM803244 BM682035 BX161398 BC011725 CR603680

GeneLoc Exon Structure

5/13 Alternative Splicing Database (ASD) splice patterns (SP) for XRCC3 (see all 13) About this scheme

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

ECgene alternative splicing isoforms for XRCC3

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

XRCC3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: ACTGTGCAGC

About this image

See XRCC3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for XRCC3

SOURCE GeneReport for Unigene clusters: Hs.592325 Hs.733412

SABiosciences Expression via Pathway-Focused PCR Arrays including XRCC3:

DNA Damage Signaling Pathway in human mouse rat

DNA Repair in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat XRCC3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XRCC3

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for XRCC3 gene from 8/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Xrcc3^{1 , 5}	X-ray repair complementing defective repair in Chinese more^{1, 5}	76.97(n)¹ 73.7(a)¹		12 (61.14 cM)⁵ 74335¹ NM_028875.2¹ NP_083151.1¹ 111803192⁵
chicken (Gallus gallus)	Aves	XRCC3¹	X-ray repair complementing defective repair in Chinese more	62.34(n) 62.24(a)		423485 NM_001006489.1 NP_001006489.1
lizard (Anolis carolinensis)	Reptilia	XRCC3⁶	X-ray repair complementing defective repair in Chi...	51(a)	1 ↔ 1	1(6024977-6038048)
zebrafish (Danio rerio)	Actinopterygii	xrcc3¹	X-ray repair complementing defective repair in Chinese more	57.97(n) 53.33(a)		541414 NM_001013541.1 NP_001013559.1
fruit fly (Drosophila melanogaster)	Insecta	spn-B¹	spindle B	47.06(n) 39.92(a)		41746 NM_057392.4 NP_476740.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	RAD57⁶	Protein that stimulates strand exchange by stabili...	15(a)	1 ↔ 1	IV(455201-456583)
thale cress (Arabidopsis thaliana)	eudicotyledons	XRCC3¹	DNA repair protein XRCC3-like protein	42.4(n) 36.4(a)		835850 NM_125127.2 NP_200554.1
rice (Oryza sativa)	Liliopsida	Os02g0562100¹	hypothetical protein	49.65(n) 39.33(a)		4329686 NM_001053685.1 NP_001047150.1

ENSEMBL Gene Tree for XRCC3 (if available)
TreeFam Gene Tree for XRCC3 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_013006⁴		--	--	see VAR_013006	2	T M	mis⁴		0	--	--	--	--
VAR_029295⁴		--	--	see VAR_029295	2	G R	mis⁴		0	--	--	--	--
VAR_029296⁴		--	--	see VAR_029296	2	R H	mis⁴		0	--	--	--	--
rs201647595^1,2		--	84346512(+)	`AAAAA-/AAGAGAAG`	3	--	int¹		0	--	--	--	--
rs186258504^1,2	C	--	84346747(+)	`CTGCTA/GCCCCA`	3	--	int¹		0	--	--	--	--
rs139232122^1,2		--	84346839(+)	`GCTCTC/TTGCAA`	3	--	int¹		0	--	--	--	--
rs149958234^1,2		--	84346880(+)	`AGCCAA/GTGTCT`	3	--	int¹		0	--	--	--	--
rs3212092^1,2	C,F,H	--	84346937(-)	`CAGCTC/TAGACA`	3	--	int¹		9		NS EA NA	916
rs144189745^1,2		--	84346944(+)	`GCTGGA/GTGCCC`	3	--	int¹		0	--	--	--	--
rs861534^1,2	C,F,H	--	84346994(-)	`AAGACG/AGCCCT`	3	--	int¹		19		NS NA EA WA CSA	1068

HapMap Linkage Disequilibrium report for XRCC3 (104163946 - 104181841 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/13 variations for XRCC3 (see all 13): About this table

Variant ID	Type	Subtype	PubMed ID
esv2749175	CNV	Deletion	23290073
nsv902308	CNV	Loss	21882294
nsv902313	CNV	Loss	21882294
dgv1996n71	CNV	Loss	21882294
nsv902314	CNV	Loss	21882294
dgv1995n71	CNV	Loss	21882294
nsv470673	CNV	Loss	18288195
nsv902300	CNV	Loss	21882294
nsv902315	CNV	Loss	21882294
nsv527425	CNV	Loss	19592680

Human Gene Mutation Database (HGMD): XRCC3

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

OMIM gene information: 600675 OMIM disorders: --

UniProtKB/Swiss-Prot: XRCC3_HUMAN, O43542

Breast cancer (BC) [MIM:114480]: A common malignancy originating from breast epithelial tissue. Breast

neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common

type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated

by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different

families or even in the same case. Note=Disease susceptibility is associated with variations affecting the gene

represented in this entry

Melanoma, cutaneous malignant 6 (CMM6) [MIM:613972]: A malignant neoplasm of melanocytes, arising de novo

or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites.

Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

20/79 diseases for XRCC3 (see all 79): About MalaCards

mutagen sensitivity skin cancer barrett's adenocarcinoma cutaneous malignant melanoma

acoustic neuroma diffuse gastric cancer neuroma biliary tract cancer

esophageal adenocarcinoma orofacial cleft familial breast cancer follicular lymphoma

breast cancer susceptibility t cell deficiency oral submucous fibrosis soft tissue sarcoma

stomach cancer ataxia telangiectasia papillary thyroid carcinoma lynch syndrome

4 diseases from the University of Copenhagen DISEASES database for XRCC3:

Xeroderma pigmentosum Breast cancer Lung cancer Urinary bladder cancer

XRCC3 for disorders About GeneDecksing

Congresses - knowledge worth sharing:
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

10/26 Novoseek inferred disease relationships for XRCC3 gene (see all 26) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
xeroderma pigmentosum	53.3	4	16707649 (1), 18630471 (1), 19307510 (1), 17630853 (1)
chromosomal aberrations	49.7	5	16997330 (2), 17159780 (1), 17923529 (1)
cancer	48	23	16791138 (4), 9542526 (3), 16137195 (3), 16707649 (3) (see all 12)
bladder cancer	42.1	14	19815090 (2), 16284380 (2), 12223443 (1), 19429237 (1) (see all 7)
breast cancer	41.9	26	19426727 (4), 19886181 (3), 12565173 (2), 12023982 (2) (see all 14)
cancer lung	41.1	12	17034901 (3), 12618330 (2), 17705814 (2), 12917199 (1) (see all 8)
ataxia telangiectasia	31.1	1	16966185 (1)
skin cancer	30.3	2	15126335 (1), 16791138 (1)
genetic susceptibility	23.6	1	18543213 (1)
adenocarcinoma	21.9	4	16571649 (1), 16540687 (1), 18336773 (1)

Genetic Association Database (GAD): XRCC3
Human Genome Epidemiology (HuGE) Navigator: XRCC3 (267 documents)

Export disorders for XRCC3 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for XRCC3 gene, integrated from 9 sources (see all 396):
(articles sorted by number of sources associating them with XRCC3)

Utopia: connect your pdf to the dynamic
world of online information

Variants in DNA double-strand break repair genes and breast cancer susceptibility. (PubMed id 12023982)^{1, 2, 4, 9} Kuschel B....Dunning A. (2002)
A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. (PubMed id 11059748)^{1, 2, 4, 9} Winsey S.L.... Welsh K.I. (2000)
XRCC3 genetic polymorphism, smoking, and lung carcinoma risk in minority populations. (PubMed id 14534887)^{1, 4, 9} Wang Y....Wu X. (2003)
XRCC3 haplotypes and risk of gliomas in a Chinese population: a hospital-based case-control study. (PubMed id 19330829)^{1, 4, 9} Zhou K....Zhou L. (2009)
Polymorphism of the homologous recombination repair genes RAD51 and XRCC3 in breast cancer. (PubMed id 19426727)^{1, 4, 9} Krupa R....Blasiak J. (2009)
Variation in DNA repair genes ERCC2, XRCC1, and XRCC3 and risk of follicular lymphoma. (PubMed id 16492913)^{1, 4, 9} Smedby K.E....Adami H.O. (2006)
[Relationship between polymorphisms of DNA repair gene XRCC3 and susceptibility to lung cancer] (PubMed id 18336773)^{1, 4, 9} Zhang Z.L....Su B. (2007)
[Association between genetic polymorphisms of DNA repair genes XRCC1, XPD, XRCC3 and the capacity of DNA repair induce by benzene] (PubMed id 18095557)^{1, 4, 9} Xu J....et al . (2007)
Chromosomal damage and polymorphisms of DNA repair genes XRCC1 and XRCC3 in workers exposed to cytostatics. (PubMed id 17159780)^{1, 4, 9} Musak L....Pec M. (2006)
XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review. (PubMed id 16707649)^{1, 4, 9} Manuguerra M....Matullo G. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7517	HGNC: 12830	AceView: XRCC3	Ensembl:ENSG00000126215	euGenes: HUgn7517
ECgene: XRCC3	Kegg: 7517	H-InvDB: XRCC3

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for XRCC3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for XRCC3	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/xrcc3/

Intellectual Property for XRCC3 gene
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Patent Information for XRCC3 gene:
Search GeneIP for patents involving XRCC3

GeneCards and IP:
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