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RAD52 RAD52 homolog, DNA repair protein [ Homo sapiens (human) ]

Gene ID: 5893, updated on 8-Dec-2018

Summary

Official Symbol
RAD52provided by HGNC
Official Full Name
RAD52 homolog, DNA repair proteinprovided by HGNC
Primary source
HGNC:HGNC:9824
See related
Ensembl:ENSG00000002016 MIM:600392
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
Summary
The protein encoded by this gene shares similarity with Saccharomyces cerevisiae Rad52, a protein important for DNA double-strand break repair and homologous recombination. This gene product was shown to bind single-stranded DNA ends, and mediate the DNA-DNA interaction necessary for the annealing of complementary DNA strands. It was also found to interact with DNA recombination protein RAD51, which suggested its role in RAD51 related DNA recombination and repair. A pseudogene of this gene is present on chromosome 2. Alternative splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Jul 2014]
Expression
Ubiquitous expression in fat (RPKM 4.4), skin (RPKM 4.2) and 25 other tissues See more
Orthologs

Genomic context

See RAD52 in Genome Data Viewer
Location:
12p13.33
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 12 NC_000012.12 (911028..991195, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (1021255..1099774, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101929432 Neighboring gene long intergenic non-protein coding RNA 2455 Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene WNK lysine deficient protein kinase 1 Neighboring gene ELKS/RAB6-interacting/CAST family member 1 Neighboring gene 5-hydroxytryptamine receptor 1D pseudogene 1 Neighboring gene uncharacterized LOC107987182

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls.
NHGRI GWA Catalog

Pathways from BioSystems

  • DNA Damage Response, organism-specific biosystem (from WikiPathways)
    DNA Damage Response, organism-specific biosystemThis is the first pathway out of two pathways which deals with DNA damage response. It has two central gene products (ATM and ATR) which are connected to the sources of DNA damage (in blue). The two ...
  • DNA Double-Strand Break Repair, organism-specific biosystem (from REACTOME)
    DNA Double-Strand Break Repair, organism-specific biosystemNumerous types of DNA damage can occur within a cell due to the endogenous production of oxygen free radicals, normal alkylation reactions, or exposure to exogenous radiations and chemicals. Double-s...
  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. Living organisms are constantly exposed to harmful metabolic by-products, enviro...
  • HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) of replication-independent DNA double strand breaks (DSBs) via homologous recombination repair (HRR) or single strand annealing (SSA) requires the activation of ATM fol...
  • HDR through Single Strand Annealing (SSA), organism-specific biosystem (from REACTOME)
    HDR through Single Strand Annealing (SSA), organism-specific biosystemHomology directed repair (HDR) through single strand annealing (SSA), similar to HDR through homologous recombination repair (HRR), involves extensive resection of DNA double strand break ends (DSBs)...
  • Homologous recombination, organism-specific biosystem (from KEGG)
    Homologous recombination, organism-specific biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homologous recombination, organism-specific biosystem (from WikiPathways)
    Homologous recombination, organism-specific biosystemHomologous recombination, also known as general recombination, is a type of genetic recombination in which nucleotide sequences are exchanged between two similar or identical strands of DNA. Source:...
  • Homologous recombination, conserved biosystem (from KEGG)
    Homologous recombination, conserved biosystemHomologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves...
  • Homology Directed Repair, organism-specific biosystem (from REACTOME)
    Homology Directed Repair, organism-specific biosystemHomology directed repair (HDR) of DNA double strand breaks (DSBs) requires resection of DNA DSB ends. Resection creates 3'-ssDNA overhangs which then anneal with a homologous DNA sequence. This homol...
  • Integrated Pancreatic Cancer Pathway, organism-specific biosystem (from WikiPathways)
    Integrated Pancreatic Cancer Pathway, organism-specific biosystemAn integrated pathway model which displays the protein-protein interactions (PPIs) among the relevant proteins for pancreatic cancer. This pathway is a collection of different mechanistic protein pat...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Post-translational protein modification, organism-specific biosystem (from REACTOME)
    Post-translational protein modification, organism-specific biosystemAfter translation, many newly formed proteins undergo further covalent modifications that alter their functional properties and that are essentially irreversible under physiological conditions in the...
  • SUMO E3 ligases SUMOylate target proteins, organism-specific biosystem (from REACTOME)
    SUMO E3 ligases SUMOylate target proteins, organism-specific biosystemSUMO proteins are conjugated to lysine residues of target proteins via an isopeptide bond with the C-terminal glycine of SUMO (reviewed in Zhao 2007, Gareau and Lima 2010, Hannoun et al. 2010, Citro ...
  • SUMOylation, organism-specific biosystem (from REACTOME)
    SUMOylation, organism-specific biosystemSmall Ubiquitin-like MOdifiers (SUMOs) are a family of 3 proteins (SUMO1,2,3) that are reversibly conjugated to lysine residues of target proteins via a glycine-lysine isopeptide bond (reviewed in Ha...
  • SUMOylation of DNA damage response and repair proteins, organism-specific biosystem (from REACTOME)
    SUMOylation of DNA damage response and repair proteins, organism-specific biosystemSeveral factors that participate in DNA damage response and repair are SUMOylated (reviewed in Dou et al. 2011, Bekker-Jensen and Mailand 2011, Ulrich 2012, Psakhye and Jentsch 2012, Bologna and Ferr...
  • miRNA Regulation of DNA Damage Response, organism-specific biosystem (from WikiPathways)
    miRNA Regulation of DNA Damage Response, organism-specific biosystemThis is the first out of two pathways which deals with the DNA damage response. It is comprised of two central gene products (ATM and ATR) influenced by different sources of DNA damage (in blue). The...
  • miRNAs involved in DNA damage response, organism-specific biosystem (from WikiPathways)
    miRNAs involved in DNA damage response, organism-specific biosystemMicroRNA clusters involved in de DNA damage response. Genes they regulated and genes that regulate them. All genes presented in this pathway can also be found in the pathway "DNA damage response(Homo...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
DNA double-strand break processing involved in repair via single-strand annealing IDA
Inferred from Direct Assay
more info
PubMed 
DNA recombinase assembly IEA
Inferred from Electronic Annotation
more info
 
DNA recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to DNA damage stimulus IGI
Inferred from Genetic Interaction
more info
PubMed 
cellular response to oxidative stress IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair TAS
Traceable Author Statement
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 single-strand annealing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein homooligomerization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of nucleotide-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
protein-DNA complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA repair protein RAD52 homolog
Names
recombination protein RAD52
rhabdomyosarcoma antigen MU-RMS-40.23

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_017078.2 RefSeqGene

    Range
    45320..83306
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001297419.1NP_001284348.1  DNA repair protein RAD52 homolog isoform a

    See identical proteins and their annotated locations for NP_001284348.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a, also known as alpha).
    Source sequence(s)
    AA402047, AC004803, L33262
    Consensus CDS
    CCDS8507.2
    UniProtKB/Swiss-Prot
    P43351
    UniProtKB/TrEMBL
    Q5DR82
    Related
    ENSP00000387901.2, ENST00000430095.6
    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52
  2. NM_001297420.1NP_001284349.1  DNA repair protein RAD52 homolog isoform b

    See identical proteins and their annotated locations for NP_001284349.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks several coding exons, and contains an alternate exon in the coding region, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (b, also known as beta) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC004803, AF125950
    Consensus CDS
    CCDS76501.1
    UniProtKB/Swiss-Prot
    P43351
    Related
    ENSP00000440268.1, ENST00000545564.5
    Conserved Domains (1) summary
    cl01936
    Location:38156
    Rad52_Rad22; Rad52/22 family double-strand break repair protein
  3. NM_001297421.1NP_001284350.1  DNA repair protein RAD52 homolog isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start codon compared to variant 1. The encoded isoform (c) has a shorter N-terminus compared to isoform a.
    Source sequence(s)
    AA402047, AC004803, AK299283, HY045122
    UniProtKB/TrEMBL
    B7Z5Q6
    Conserved Domains (1) summary
    cl01936
    Location:1122
    Rad52_Rad22; Rad52/22 family double-strand break repair protein
  4. NM_001297422.1NP_001284351.1  DNA repair protein RAD52 homolog isoform d

    See identical proteins and their annotated locations for NP_001284351.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks several coding exons and uses an alternate 3' terminal exon, resulting in a novel 3' coding region and 3' UTR compared to variant 1. The encoded isoform (d) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AC004803, AK294709, HY045122
    Consensus CDS
    CCDS76500.1
    UniProtKB/TrEMBL
    B7Z2G8, F5GX32
    Related
    ENSP00000440486.1, ENST00000536177.5
    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52
  5. NM_134424.3NP_602296.2  DNA repair protein RAD52 homolog isoform a

    See identical proteins and their annotated locations for NP_602296.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a, also known as alpha). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AA402047, AC004803, HY045122, U12134
    Consensus CDS
    CCDS8507.2
    UniProtKB/Swiss-Prot
    P43351
    UniProtKB/TrEMBL
    Q5DR82
    Related
    ENSP00000351284.3, ENST00000358495.7
    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52

RNA

  1. NR_123713.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) contains two alternate internal exons, and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA402047, AC004803, BC042136, HY045122

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p12 Primary Assembly

    Range
    911028..991195 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019769.1XP_016875258.1  DNA repair protein RAD52 homolog isoform X1

    UniProtKB/Swiss-Prot
    P43351
    UniProtKB/TrEMBL
    Q5DR82
    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52
  2. XM_005253720.5XP_005253777.1  DNA repair protein RAD52 homolog isoform X1

    See identical proteins and their annotated locations for XP_005253777.1

    UniProtKB/Swiss-Prot
    P43351
    UniProtKB/TrEMBL
    Q5DR82
    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52
  3. XM_011520990.2XP_011519292.1  DNA repair protein RAD52 homolog isoform X1

    See identical proteins and their annotated locations for XP_011519292.1

    UniProtKB/Swiss-Prot
    P43351
    UniProtKB/TrEMBL
    Q5DR82
    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52
  4. XM_011520991.2XP_011519293.1  DNA repair protein RAD52 homolog isoform X1

    See identical proteins and their annotated locations for XP_011519293.1

    UniProtKB/Swiss-Prot
    P43351
    UniProtKB/TrEMBL
    Q5DR82
    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52
  5. XM_017019770.1XP_016875259.1  DNA repair protein RAD52 homolog isoform X2

    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52
  6. XM_005253721.2XP_005253778.1  DNA repair protein RAD52 homolog isoform X1

    See identical proteins and their annotated locations for XP_005253778.1

    UniProtKB/Swiss-Prot
    P43351
    UniProtKB/TrEMBL
    Q5DR82
    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52
  7. XM_011520995.3XP_011519297.1  DNA repair protein RAD52 homolog isoform X3

    Conserved Domains (1) summary
    cl01936
    Location:14101
    Rad52_Rad22; Rad52/22 family double-strand break repair protein
  8. XM_017019771.1XP_016875260.1  DNA repair protein RAD52 homolog isoform X4

    UniProtKB/TrEMBL
    F5GX32
    Conserved Domains (1) summary
    TIGR00607
    Location:38199
    rad52; recombination protein rad52

RNA

  1. XR_931522.2 RNA Sequence

  2. XR_001748837.1 RNA Sequence

  3. XR_001748836.1 RNA Sequence

  4. XR_001748839.1 RNA Sequence

  5. XR_001748838.2 RNA Sequence

  6. XR_002957366.1 RNA Sequence

    Related
    ENST00000463750.5
  7. XR_002957367.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_134422.1: Suppressed sequence

    Description
    NM_134422.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_134423.1: Suppressed sequence

    Description
    NM_134423.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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