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

Gene ID: 5893, updated on 1-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 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 CRISPRi-validated cis-regulatory element chr12.51 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 Functions

What'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 PubChem

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 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 
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
    45348..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_001297422.2NP_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_134424.4NP_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, ENST00000358495.8
    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 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_000012.12 Reference GRCh38.p13 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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