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

    Gene ID: 5893, updated on 3-Apr-2024

    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; AllianceGenome:HGNC:9824
    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
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    12p13.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (911736..991122, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (907492..985932, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (1020902..1099207, 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 ATAC-STARR-seq lymphoblastoid active region 5787 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5788 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5790 Neighboring gene H3K27ac hESC enhancers GRCh37_chr12:861758-862476 and GRCh37_chr12:862477-863195 Neighboring gene RNA, U4atac small nuclear 16, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5791 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:917646-918146 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr12:918147-918647 Neighboring gene WNK lysine deficient protein kinase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5792 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:1023012-1024211 Neighboring gene uncharacterized LOC124902855 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:1058032-1058690 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:1058691-1059349 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1067429-1067930 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1067931-1068430 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:1083331-1083878 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:1092618-1092819 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:1099220-1099782 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:1100344-1100905 Neighboring gene Sharpr-MPRA regulatory region 6010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4110 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1115216-1115716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1115717-1116217 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:1181067-1181567 Neighboring gene ELKS/RAB6-interacting/CAST family member 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5795 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:1224566-1225765 Neighboring gene uncharacterized LOC124902857 Neighboring gene 5-hydroxytryptamine receptor 1D pseudogene 1

    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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables single-stranded DNA binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-DNA complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    part_of 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)

    NEW Try the new Transcript table

    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, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q3MI84, 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_001297421.2NP_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
      cl42453
      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, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q3MI84, Q5DR82
      Related
      ENSP00000351284.3, ENST00000358495.8
      Conserved Domains (1) summary
      TIGR00607
      Location:38199
      rad52; recombination protein rad52

    RNA

    1. NR_123713.2 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      911736..991122 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019769.2XP_016875258.1  DNA repair protein RAD52 homolog isoform X1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q3MI84, Q5DR82
      Conserved Domains (1) summary
      TIGR00607
      Location:38199
      rad52; recombination protein rad52
    2. XM_005253720.6XP_005253777.1  DNA repair protein RAD52 homolog isoform X1

      See identical proteins and their annotated locations for XP_005253777.1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q3MI84, Q5DR82
      Conserved Domains (1) summary
      TIGR00607
      Location:38199
      rad52; recombination protein rad52
    3. XM_047429285.1XP_047285241.1  DNA repair protein RAD52 homolog isoform X2

    4. XM_011520991.3XP_011519293.1  DNA repair protein RAD52 homolog isoform X1

      See identical proteins and their annotated locations for XP_011519293.1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q3MI84, Q5DR82
      Conserved Domains (1) summary
      TIGR00607
      Location:38199
      rad52; recombination protein rad52
    5. XM_017019770.2XP_016875259.1  DNA repair protein RAD52 homolog isoform X2

      UniProtKB/TrEMBL
      Q3MI84
      Conserved Domains (1) summary
      TIGR00607
      Location:38199
      rad52; recombination protein rad52
    6. XM_047429284.1XP_047285240.1  DNA repair protein RAD52 homolog isoform X2

    7. XM_011520990.3XP_011519292.1  DNA repair protein RAD52 homolog isoform X1

      See identical proteins and their annotated locations for XP_011519292.1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q3MI84, Q5DR82
      Conserved Domains (1) summary
      TIGR00607
      Location:38199
      rad52; recombination protein rad52
    8. XM_047429283.1XP_047285239.1  DNA repair protein RAD52 homolog isoform X2

    9. XM_005253721.3XP_005253778.1  DNA repair protein RAD52 homolog isoform X1

      See identical proteins and their annotated locations for XP_005253778.1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q3MI84, Q5DR82
      Conserved Domains (1) summary
      TIGR00607
      Location:38199
      rad52; recombination protein rad52
    10. XM_047429282.1XP_047285238.1  DNA repair protein RAD52 homolog isoform X1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q5DR82
    11. XM_011520995.4XP_011519297.1  DNA repair protein RAD52 homolog isoform X5

      UniProtKB/TrEMBL
      B7Z5Q6
      Conserved Domains (1) summary
      cl01936
      Location:14101
      Rad52_Rad22; Rad52/22 family double-strand break repair protein
    12. XM_047429286.1XP_047285242.1  DNA repair protein RAD52 homolog isoform X3

    13. XM_047429287.1XP_047285243.1  DNA repair protein RAD52 homolog isoform X4

    14. XM_047429290.1XP_047285246.1  DNA repair protein RAD52 homolog isoform X7

    15. XM_017019771.2XP_016875260.1  DNA repair protein RAD52 homolog isoform X6

      UniProtKB/TrEMBL
      B7Z2G8, F5GX32
      Conserved Domains (1) summary
      TIGR00607
      Location:38199
      rad52; recombination protein rad52
    16. XM_047429288.1XP_047285244.1  DNA repair protein RAD52 homolog isoform X6

      UniProtKB/TrEMBL
      F5GX32
    17. XM_047429289.1XP_047285245.1  DNA repair protein RAD52 homolog isoform X6

      UniProtKB/TrEMBL
      F5GX32
    18. XM_047429291.1XP_047285247.1  DNA repair protein RAD52 homolog isoform X8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      907492..985932 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372784.1XP_054228759.1  DNA repair protein RAD52 homolog isoform X1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q5DR82
    2. XM_054372789.1XP_054228764.1  DNA repair protein RAD52 homolog isoform X2

    3. XM_054372782.1XP_054228757.1  DNA repair protein RAD52 homolog isoform X1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q5DR82
    4. XM_054372786.1XP_054228761.1  DNA repair protein RAD52 homolog isoform X2

    5. XM_054372788.1XP_054228763.1  DNA repair protein RAD52 homolog isoform X2

    6. XM_054372783.1XP_054228758.1  DNA repair protein RAD52 homolog isoform X1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q5DR82
    7. XM_054372787.1XP_054228762.1  DNA repair protein RAD52 homolog isoform X2

    8. XM_054372785.1XP_054228760.1  DNA repair protein RAD52 homolog isoform X1

      UniProtKB/Swiss-Prot
      P43351, Q13205, Q9Y5T7, Q9Y5T8, Q9Y5T9
      UniProtKB/TrEMBL
      Q5DR82
    9. XM_054372792.1XP_054228767.1  DNA repair protein RAD52 homolog isoform X5

    10. XM_054372790.1XP_054228765.1  DNA repair protein RAD52 homolog isoform X3

    11. XM_054372791.1XP_054228766.1  DNA repair protein RAD52 homolog isoform X4

    12. XM_054372796.1XP_054228771.1  DNA repair protein RAD52 homolog isoform X7

    13. XM_054372793.1XP_054228768.1  DNA repair protein RAD52 homolog isoform X6

      UniProtKB/TrEMBL
      F5GX32
    14. XM_054372794.1XP_054228769.1  DNA repair protein RAD52 homolog isoform X6

      UniProtKB/TrEMBL
      F5GX32
    15. XM_054372795.1XP_054228770.1  DNA repair protein RAD52 homolog isoform X6

      UniProtKB/TrEMBL
      F5GX32
    16. XM_054372797.1XP_054228772.1  DNA repair protein RAD52 homolog isoform X8

    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.