XRCC2 X-ray repair cross complementing 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: XRCC2provided by HGNC
Official Full Name: X-ray repair cross complementing 2provided by HGNC
Primary source: HGNC:HGNC:12829
See related: Ensembl:ENSG00000196584 MIM:600375; AllianceGenome:HGNC:12829
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FANCU; POF17; SPGF50
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 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]
Expression: Broad expression in testis (RPKM 1.4), bone marrow (RPKM 1.0) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q36.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (152644776..152676141, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (153818164..153849721, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (152341861..152373226, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Association between XRCC2 Arg188His Polymorphism and Breast Cancer Susceptibility: A Systematic Review and Meta-Analysis.
Title: Association between XRCC2 Arg188His Polymorphism and Breast Cancer Susceptibility: A Systematic Review and Meta-Analysis.
Impact of Interaction between Single Nucleotide Polymorphism of XRCC1, XRCC2, XRCC3 with Tumor Suppressor Tp53 Gene Increases Risk of Breast Cancer: A Hospital Based Case-Control Study.
Title: Impact of Interaction between Single Nucleotide Polymorphism of XRCC1, XRCC2, XRCC3 with Tumor Suppressor Tp53 Gene Increases Risk of Breast Cancer: A Hospital Based Case-Control Study.
Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer.
Title: Association of RAD51, XRCC1, XRCC2, and XRCC3 Polymorphisms with Risk of Breast Cancer.
Structural insights into BCDX2 complex function in homologous recombination.
Title: Structural insights into BCDX2 complex function in homologous recombination.
Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
Title: Structure and function of the RAD51B-RAD51C-RAD51D-XRCC2 tumour suppressor.
Overexpressed XRCC2 as an independent risk factor for poor prognosis in glioma patients.
Title: Overexpressed XRCC2 as an independent risk factor for poor prognosis in glioma patients.
A Meta-Analysis for Association of XRCC1, XRCC2 and XRCC3 Polymorphisms with Susceptibility to Thyroid Cancer.
Title: A Meta-Analysis for Association of XRCC1, XRCC2 and XRCC3 Polymorphisms with Susceptibility to Thyroid Cancer.
Association of RAD51 and XRCC2 Gene Polymorphisms with Cervical Cancer Risk in the Bangladeshi Women.
Title: Association of RAD51 and XRCC2 Gene Polymorphisms with Cervical Cancer Risk in the Bangladeshi Women.
Association between RAD51, XRCC2 and XRCC3 gene polymorphisms and risk of ovarian cancer: a case control and an in silico study.
Title: Association between RAD51, XRCC2 and XRCC3 gene polymorphisms and risk of ovarian cancer: a case control and an in silico study.
XRCC2 repairs mitochondrial DNA damage and fuels malignant behavior in hepatocellular carcinoma.
Title: XRCC2 repairs mitochondrial DNA damage and fuels malignant behavior in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (86)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Fanconi anemia complementation group U MedGen: C4310651 OMIM: 617247 GeneReviews: Fanconi Anemia	Compare labs
Premature ovarian failure 17 MedGen: C5436889 OMIM: 619146 GeneReviews: Not available	Compare labs
Spermatogenic failures 50 MedGen: C5436888 OMIM: 619145 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

G64488 (e-PCR)
- UniSTS:163939

D7S3207 (e-PCR)
- UniSTS:229489

RH36905 (e-PCR)
- UniSTS:87932

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP-dependent DNA damage sensor activity	IEA Inferred from Electronic Annotation more info
contributes_to four-way junction DNA binding	IBA Inferred from Biological aspect of Ancestor more info
contributes_to four-way junction DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA repair	IGI Inferred from Genetic Interaction more info	PubMed
involved_in DNA strand invasion	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA strand invasion	IDA Inferred from Direct Assay more info	PubMed
involved_in centrosome cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in meiotic cell cycle	TAS Traceable Author Statement more info	PubMed
involved_in mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of fibroblast apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in response to X-ray	IEA Inferred from Electronic Annotation more info
involved_in response to gamma radiation	IEA Inferred from Electronic Annotation more info
involved_in somitogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of Rad51B-Rad51C-Rad51D-XRCC2 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Rad51B-Rad51C-Rad51D-XRCC2 complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in replication fork	IBA Inferred from Biological aspect of Ancestor more info
located_in replication fork	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: DNA repair protein XRCC2

Names: X-ray repair complementing defective repair in Chinese hamster cells 2; X-ray repair cross-complementing protein 2; epididymis secretory sperm binding protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_027988.2 RefSeqGene

Range

5025..36390

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_323

mRNA and Protein(s)

NM_005431.2 → NP_005422.1 DNA repair protein XRCC2

See identical proteins and their annotated locations for NP_005422.1

Status: REVIEWED

Source sequence(s)

AC003109, AF035587

Consensus CDS

CCDS5933.1

UniProtKB/Swiss-Prot

B2R925, O43543

UniProtKB/TrEMBL

A0A384MEK2, Q68DV8

Related

ENSP00000352271.1, ENST00000359321.2

Conserved Domains (1) summary

cl28885
Location:41 → 196

RecA-like_NTPases; RecA-like NTPases. This family includes the NTP binding domain of F1 and V1 H+ATPases, DnaB and related helicases as well as bacterial RecA and related eukaryotic and archaeal recombinases. This group also includes bacterial conjugation proteins and ...