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

Gene ID: 7516, updated on 7-Jun-2020

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
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
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

Genomic context

See XRCC2 in Genome Data Viewer
Location:
7q36.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (152644776..152676141, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (152343583..152373250, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 250 Neighboring gene ribosomal protein L36a pseudogene 28 Neighboring gene ATP synthase peripheral stalk-membrane subunit b pseudogene 3 Neighboring gene RNA, 7SL, cytoplasmic 845, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Fanconi anemia, complementation group U
MedGen: C4310651 OMIM: 617247 GeneReviews: Fanconi Anemia
Compare labs

NHGRI 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
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781P0919

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
DNA-dependent ATPase activity IEA
Inferred from Electronic Annotation
more info
 
contributes_to four-way junction DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to four-way junction DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair IGI
Inferred from Genetic Interaction
more info
PubMed 
centrosome cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
double-strand break repair via homologous recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
meiotic cell cycle TAS
Traceable Author Statement
more info
PubMed 
mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of neurogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of fibroblast apoptotic process IEA
Inferred from Electronic Annotation
more info
 
response to X-ray IEA
Inferred from Electronic Annotation
more info
 
response to gamma radiation IEA
Inferred from Electronic Annotation
more info
 
somitogenesis IEA
Inferred from Electronic Annotation
more info
 
strand invasion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
strand invasion IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Rad51B-Rad51C-Rad51D-XRCC2 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rad51B-Rad51C-Rad51D-XRCC2 complex IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
replication fork IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
replication fork IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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

  1. NG_027988.2 RefSeqGene

    Range
    5025..36390
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005431.2NP_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
    O43543
    Related
    ENSP00000352271.1, ENST00000359321.2
    Conserved Domains (1) summary
    cl28885
    Location:41196
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    152644776..152676141 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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