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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RAD50 Gene

protein-coding   GIFtS: 67
GCID: GC05P131920

RAD50 Homolog (S. Cerevisiae)

(Previous name: RAD50 (S. cerevisiae) homolog)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RAD50 Homolog (S. Cerevisiae)1 2     EC 3.6.-.-3
NBSLD2 5     hRAD503
RAD50 (S. Cerevisiae) Homolog1     EC 3.6.1.158
RAD5022     EC 3.6.38
DNA Repair Protein RAD502     EC 3.6.3.278
hRad502     

External Ids:    HGNC: 98161   Entrez Gene: 101112   Ensembl: ENSG000001135227   OMIM: 6040405   UniProtKB: Q928783   

Export aliases for RAD50 gene to outside databases

Previous GC identifers: GC05P131414 GC05P132339 GC05P131923 GC05P131968 GC05P127084


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RAD50 Gene:
The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA
double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA
and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein,
cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation,
telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is
essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like
disorder.(provided by RefSeq, Apr 2010)

GeneCards Summary for RAD50 Gene: 
RAD50 (RAD50 homolog (S. cerevisiae)) is a protein-coding gene. Diseases associated with RAD50 include nijmegen breakage syndrome-like disorder, and nijmegen breakage syndrome, and among its related super-pathways are Non-homologous end joining and Fanconi's Anaemia Pathway. GO annotations related to this gene include 3'-5' exonuclease activity and protein binding, bridging.

UniProtKB/Swiss-Prot: RAD50_HUMAN, Q92878
Function: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA
recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease
activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be
required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long
regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases
and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The
complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN
complex may modulate t-loop formation

Gene Wiki entry for RAD50 (Rad50) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RAD50 gene promoter:
         GR   p53   GATA-3   GR-beta   POU3F2 (N-Oct-5b)   C/EBPalpha   GATA-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAD50 promoter sequence
   Search SABiosciences Chromatin IP Primers for RAD50

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RAD50


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q31   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q23-q31

RAD50 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAD50 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P131920:  view genomic region     (about GC identifiers)

Start:
131,891,711 bp from pter      End:
131,980,313 bp from pter
Size:
88,603 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RAD50_HUMAN, Q92878 (See protein sequence)
Recommended Name: DNA repair protein RAD50  
Size: 1312 amino acids; 153892 Da
Cofactor: Binds 1 zinc ion per homodimer (By similarity)
Subunit: Component of the MRN complex composed of two heterodimers RAD50/MRE11A associated with a single NBN.
Component of the BASC complex, at least composed of BRCA1, MSH2, MSH6, MLH1, ATM, BLM, RAD50, MRE11A and NBN.
Found in a complex with TERF2. Interacts with RINT1. Interacts with BRCA1 via its N-terminal domain. Interacts
with DCLRE1C/Artemis
Subcellular location: Nucleus. Chromosome, telomere. Note=Localizes to discrete nuclear foci after treatment with
genotoxic agents
Miscellaneous: In case of infection by adenovirus E4, the MRN complex is inactivated and degraded by viral
oncoproteins, thereby preventing concatenation of viral genomes in infected cells
Sequence caution: Sequence=AAH62603.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence;
Secondary accessions: B9EGF5 O43254 Q6GMT7 Q6P5X3 Q9UP86
Alternative splicing: 3 isoforms:  Q92878-1   Q92878-2   Q92878-3   

Explore the universe of human proteins at neXtProt for RAD50: NX_Q92878

Explore proteomics data for RAD50 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92878

  • 4 DME Specific Peptides for RAD50 (Q92878)
     KDLDIYY  NGAGKTT  GPNGAGKT  ELSKAEKN 

    RAD50 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAD50 Protein Expression
    REFSEQ proteins: NP_005723.2  
    ENSEMBL proteins: 
     ENSP00000389515   ENSP00000431225   ENSP00000265335   ENSP00000400049   ENSP00000390971  
     ENSP00000396100   ENSP00000396860   ENSP00000368100  
    Reactome Protein details: Q92878
    Human Recombinant Protein Products for RAD50: 
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    OriGene Protein Over-expression Lysate for RAD50
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for RAD50
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    Novus Biologicals RAD50 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RAD50 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784nuclear chromosome, telomeric region IDA10888888
    GO:0005634nucleus ----
    GO:0005654nucleoplasm TAS--
    GO:0030870Mre11 complex IDA19151086
    GO:0035861site of double-strand break IDA15916964

    RAD50 for ontologies           About GeneDecksing



    RAD50 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of RAD50
    R&D Systems Antibodies for RAD50
    Cell Signaling Technology (CST) Antibodies for RAD50 
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    Novus Biologicals RAD50 Antibodies
    Abcam antibodies for RAD50
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    ThermoFisher Antibodies for RAD50
    LSBio Antibodies in human, mouse, rat for RAD50 

    Assay Products for RAD50: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RAD50 
    Cloud-Clone Corp. CLIAs for RAD50


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR004584 Rad50
     IPR013134 Zn_hook_Rad50
     IPR027417 P-loop_NTPase
     IPR007517 Rad50_Zn_hook

    Graphical View of Domain Structure for InterPro Entry Q92878

    ProtoNet protein and cluster: Q92878

    1 Blocks protein domain: IPB007517 Rad50 zinc hook motif

    UniProtKB/Swiss-Prot: RAD50_HUMAN, Q92878
    Domain: The zinc-hook, which separates the large intramolecular coiled coil regions, contains 2 Cys residues that
    coordinate one molecule of zinc with the help of the 2 Cys residues of the zinc-hook of another RAD50 molecule,
    thereby forming a V-shaped homodimer. The two heads of the homodimer, which constitute the ATP-binding domain,
    interact with the MRE11A homodimer (By similarity)
    Similarity: Belongs to the SMC family. RAD50 subfamily
    Similarity: Contains 1 zinc-hook domain


    RAD50 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAD50_HUMAN, Q92878
    Function: Component of the MRN complex, which plays a central role in double-strand break (DSB) repair, DNA
    recombination, maintenance of telomere integrity and meiosis. The complex possesses single-strand endonuclease
    activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11A. RAD50 may be
    required to bind DNA ends and hold them in close proximity. This could facilitate searches for short or long
    regions of sequence homology in the recombining DNA templates, and may also stimulate the activity of DNA ligases
    and/or restrict the nuclease activity of MRE11A to prevent nucleolytic degradation past a given point. The
    complex may also be required for DNA damage signaling via activation of the ATM kinase. In telomeres the MRN
    complex may modulate t-loop formation

         Genatlas biochemistry entry for RAD50:
    RAD50 (S cerevisiae) homolog,involved in DNA recombinational repair and meiosis specific double strand break
    formation,complexing with MR11 and NBS1

         Enzyme Numbers (IUBMB): EC 3.6.3.272 EC 3.6.32 EC 3.6.-.-1 EC 3.6.1.152

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000014contributes to single-stranded DNA endodeoxyribonuclease activity IDA9705271
    GO:0003677DNA binding IDA15790808
    GO:0004003contributes to ATP-dependent DNA helicase activity IMP15790808
    GO:0004518nuclease activity ----
    GO:0005515protein binding IPI11096100
         
    RAD50 for ontologies           About GeneDecksing


    Phenotypes:
         13 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Rad50):
     behavior/neurological  cellular  embryogenesis  endocrine/exocrine gland  growth/size 
     hematopoietic system  immune system  liver/biliary system  mortality/aging  nervous system 
     reproductive system  respiratory system  tumorigenesis 

    RAD50 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RAD50: Rad50tm1Flv Rad50tm1Jpt

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAD50 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RAD50

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAD50 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAD50 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RAD50
    8 QIAGEN miScript miRNA Assays for microRNAs that regulate RAD50:
    hsa-miR-3158-3p hsa-miR-3164 hsa-miR-3658 hsa-miR-1207-3p hsa-miR-183 hsa-miR-590-3p hsa-miR-450b-5p hsa-miR-4257
    SwitchGear 3'UTR luciferase reporter plasmidRAD50 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RAD50

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of RAD50

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene ORF clones in mouse, rat for RAD50
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    GenScript: all cDNA clones in your preferred vector: RAD50 (NM_005732)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAD50
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAD50
    Sirion Biotech Customized lentivirus for stable overexpression of RAD50 
                         Customized lentivirus expression plasmids for stable overexpression of RAD50 

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAD50


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RAD50 About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Non-homologous end-joining
    Non-homologous end-joining0.46
    DNA damage NHEJ mechanisms of DSBs repair0.37
    Non-homologous end joining0.46
    2Fanconi Anemia pathway
    Fanconi's Anaemia Pathway0.43
    BARD1 signaling events0.41
    3Homologous recombination
    Homologous recombination0.40
    Homologous recombination0.40
    4Homologous Recombination Repair
    Homologous recombination repair of replication-independent double-strand breaks0.71
    Homologous Recombination Repair0.71
    Double-Strand Break Repair0.71
    5Recruitment of repair and signaling proteins to double-strand breaks
    Recruitment of repair and signaling proteins to double-strand breaks0.62
    MRN complex relocalizes to nuclear foci0.50
    Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for RAD50
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage NHEJ mechanisms of DSBs repair

    5/6 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for RAD50 (see all 6)
        ATM Pathway
    Fanconi's Anaemia Pathway
    BRCA1 Pathway
    DNA Repair Mechanisms
    Chks in Checkpoint Regulation

    2 Cell Signaling Technology (CST) Pathways for RAD50
        Cell Cycle / Checkpoint Control
    DNA Damage

    2 GeneGo (Thomson Reuters) Pathways for RAD50
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage NHEJ mechanisms of DSBs repair

    5/9 BioSystems Pathways for RAD50 (see all 9)
        DNA damage response
    Homologous recombination
    Integrated Breast Cancer Pathway
    Non-homologous end joining
    Prostate Cancer

    5/9        Reactome Pathways for RAD50 (see all 9)
        DNA Repair
    Homologous recombination repair of replication-independent double-strand breaks
    Recruitment of repair and signaling proteins to double-strand breaks
    Meiotic Recombination
    Homologous Recombination Repair


    2         Kegg Pathways  (Kegg details for RAD50):
        Homologous recombination
    Non-homologous end-joining


    RAD50 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAD50

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/899 Interacting proteins for RAD50 (Q928782, 3 ENSP000002653354) via UniProtKB, MINT, STRING, and/or I2D (see all 899)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206481Q146762, 3, ENSP000003730604MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805549 MINT-6805304 MINT-6805376 I2D: score=3 STRING: ENSP00000373060
    ENSG00000237095Q146762, 3, ENSP000004091674MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805549 MINT-6805304 MINT-6805376 I2D: score=3 STRING: ENSP00000409167
    ENSG00000224587Q146762, 3MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805549 MINT-6805304 MINT-6805376 I2D: score=3 
    ENSG00000225589Q146762, 3MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805549 MINT-6805304 MINT-6805376 I2D: score=3 
    ENSG00000228575Q146762, 3MINT-6805435 MINT-6805527 MINT-6805327 MINT-6805250 MINT-6805281 MINT-6805549 MINT-6805304 MINT-6805376 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000019regulation of mitotic recombination IDA8756642
    GO:0000723telomere maintenance TAS10888888
    GO:0000724double-strand break repair via homologous recombination TAS--
    GO:0006281DNA repair TAS--
    GO:0006302double-strand break repair TAS--

    RAD50 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RAD50 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RAD50

    8 Novoseek inferred chemical compound relationships for RAD50 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 79.8 2 12007281 (1), 18077792 (1)
    mononucleotide 71.4 3 16025146 (1), 16542220 (1), 11196187 (1)
    methylmethanesulfonate 53.2 1 12944481 (1)
    camptothecin 49 3 18075304 (1)
    hydroxyurea 38.4 1 12944481 (1)
    atp 0.0662 8 14698290 (3), 19308707 (2), 10346816 (1)
    nitric oxide 0 7 14550546 (3)
    serine 0 2 14698290 (2)

    Search CenterWatch for drugs/clinical trials and news about RAD50

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RAD50 gene (2 alternative transcripts): 
    NM_005732.3  NM_133482.1  

    Unigene Cluster for RAD50:

    RAD50 homolog (S. cerevisiae)
    Hs.633509  [show with all ESTs]
    Unigene Representative Sequence: NM_005732
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000416135(uc003kxg.1) ENST00000533482 ENST00000265335 ENST00000453394
    ENST00000423956 ENST00000487596 ENST00000434288 ENST00000496204 ENST00000489420
    ENST00000455677 ENST00000378823(uc003kxi.3 uc003kxh.3)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAD50
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAD50
    Sirion Biotech Customized lentivirus for stable overexpression of RAD50 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAD50

    Additional mRNA sequence: 

    AF057299.1 AF057300.1 AK290597.1 AK307439.1 BC062603.1 BC073850.1 BC108282.1 BC136436.1 
    BC140005.1 DQ655928.2 U63139.1 

    24/25 DOTS entries (see all 25):

    DT.100781410  DT.214264  DT.100781409  DT.120846100  DT.97762068  DT.120846103  DT.120846112  DT.100781411 
    DT.120846145  DT.75126706  DT.107197  DT.120846084  DT.40232006  DT.120846194  DT.120846236  DT.92436975 
    DT.120846028  DT.120846090  DT.120846255  DT.40127609  DT.91849555  DT.92436969  DT.101971429  DT.102913 

    24/196 AceView cDNA sequences (see all 196):

    BU152957 CB152639 AU139365 CB111439 BU740393 AL037130 BU155100 BU622162 
    BC062603 BF969257 BU634308 AL524979 NM_005732 CB850919 AI566018 U63139 
    BU618983 CB216410 BU619256 AW803491 CB306651 CA448870 BM698750 BM013995 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for RAD50    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                                      -                                                                                                                     
    SP2:                          -           -                                                                                                                     
    SP3:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25a · 25b
    SP1:                        
    SP2:                        
    SP3:                        


    ECgene alternative splicing isoforms for RAD50

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RAD50 expression in normal human tissues (normalized intensities)      RAD50 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGCCCCGTT
    RAD50 Expression
    About this image


    RAD50 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, post-menopause ; glandular cells   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 4 entries
             salivary gland ; glandular cells   
             mouth   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   

    See RAD50 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAD50

    SOURCE GeneReport for Unigene cluster: Hs.633509

    UniProtKB/Swiss-Prot: RAD50_HUMAN, Q92878
    Tissue specificity: Expressed at very low level in most tissues, except in testis where it is expressed at higher
    level. Expressed in fibroblasts

        SABiosciences Expression via Pathway-Focused PCR Arrays including RAD50: 
              DNA Damage Signaling Pathway in human mouse rat
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RAD50 gene from 10/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rad501 , 5 RAD50 homolog (S. cerevisiae)1, 5 87.91(n)1
    92.3(a)1
      11 (31.98 cM)5
    193601  NM_009012.21  NP_033038.21 
     536495195 
    chicken
    (Gallus gallus)
    Aves RAD501 RAD50 homolog (S. cerevisiae) 74.82(n)
    77.21(a)
      416329  XM_414645.3  XP_414645.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAD506
    Uncharacterized protein
    79(a)
    1 ↔ 1
    2(127651281-127701239)
    African clawed frog
    (Xenopus laevis)
    Amphibia 480364802   -- 74.5(n)    48036480 
    zebrafish
    (Danio rerio)
    Actinopterygii rad501 RAD50 homolog (S. cerevisiae) 67.35(n)
    70.96(a)
      553029  XM_691767.4  XP_696859.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta rad501 , 3 DNA repair3
    CG6339-PD1
    28(a)3
    44.22(n)1
    30.69(a)1
      58E13
    375641  NM_166533.31  NP_726199.31 
    worm
    (Caenorhabditis elegans)
    Secernentea rad-503 DNA repair protein RAD50 like 25(a)   V(12249212-12253655)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD50(YNL250W)4
    RAD501
    Subunit of MRX complex, with Mre11p and Xrs2p, involved more4
    Rad50p1
    44.33(n)1
    29.28(a)1
      14(175410-179348)4
    8554711, 4  NP_014149.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAD501 DNA repair protein RAD50 45.65(n)
    32.6(a)
      817756  NM_128757.3  NP_565733.1 
    rice
    (Oryza sativa)
    Liliopsida Os.72972 Oryza sativa (japonica cultivar-group) DNA repair-recombination more 72.62(n)    AY277897.1 


    ENSEMBL Gene Tree for RAD50 (if available)
    TreeFam Gene Tree for RAD50 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1745 SNPs in RAD50 are shown (see all 1745)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs747697211,2
    C,Funtested1132188270(+) CTGGTG/ACTTAT 1 -- int12Minor allele frequency- A:0.01WA EU 1291
    rs1048950431,2
    Cuntested1132191691(+) AATAGC/TTTAAG 1 -- int10--------
    rs756396321,2
    C,Funtested1132192124(+) AAAAAA/GTTTAA 1 -- int11Minor allele frequency- G:0.07NA 120
    rs1048950451,2
    C,Funtested1132201187(+) AGCACC/TAGTTG 1 -- int11Minor allele frequency- T:0.03NA 120
    rs1048950471,2
    Cuntested1132221122(+) ATATTA/GTATAA 1 -- int10--------
    rs1048950481,2
    Cuntested1132228703(+) ATAAAC/TGTCTT 1 -- int11Minor allele frequency- T:0.00EU 1269
    rs1048950501,2
    Cuntested1132230604(+) TTTTTA/TCAGTG 1 -- int10--------
    rs77057401,2
    C--127086668(+) cccccA/Ccaaaa 1 -- int10--------
    rs27063521,2
    C,F--127103260(+) taaaaC/Acatca 1 -- int11Minor allele frequency- A:0.27WA 118
    rs2004192711,2
    C--131891684(-) AGGTTA/TAAAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RAD50 (131891711 - 131980313 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for RAD50: --

    Human Gene Mutation Database (HGMD): RAD50
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RAD50
    DNA2.0 Custom Variant and Variant Library Synthesis for RAD50

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604040   
    OMIM disorders: 613078  
    UniProtKB/Swiss-Prot: RAD50_HUMAN, Q92878
  • Nijmegen breakage syndrome-like disorder (NBSLD) [MIM:613078]: A disorder similar to Nijmegen breakage
    syndrome and characterized by chromosomal instability, radiation sensitivity, microcephaly, growth retardation,
    short stature and bird-like face. Immunodeficiency is absent. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 20/37 diseases for RAD50 (see all 37):    About MalaCards
    nijmegen breakage syndrome-like disorder    nijmegen breakage syndrome    ataxia telangiectasia    hereditary breast cancer
    lynch syndrome    hereditary pancreatitis    familial breast cancer    fanconi's anemia
    werner syndrome    breast cancer susceptibility    ataxia    sporadic breast cancer
    microcephaly    short stature    breast cancer    bronchiolitis
    ovarian cancer    anemia    malaria    non-hodgkin lymphoma

    4 diseases from the University of Copenhagen DISEASES database for RAD50:
    Nijmegen breakage syndrome     Ataxia telangiectasia     Microcephaly     Fanconi's anemia

    RAD50 for disorders           About GeneDecksing

    10/11 Novoseek inferred disease relationships for RAD50 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nijmegen breakage syndrome 88.6 5 10888888 (1), 15026416 (1), 9705271 (1), 10346816 (1) (see all 5)
    ataxia telangiectasia 70.8 4 16971555 (1), 15064416 (1), 17932350 (1), 17429352 (1)
    microsatellite instability 59.7 2 11196187 (1), 18606567 (1)
    fanconis anemia 45.5 2 17524422 (2)
    colorectal cancer 32.7 1 18830935 (1)
    breast cancer 26.4 13 16385572 (5), 16474176 (1), 17292821 (1), 19383352 (1) (see all 6)
    cancer 22.6 6 18606567 (2), 16385572 (1), 12957814 (1), 17143500 (1) (see all 5)
    tumors 17.2 19 16025146 (3), 14550546 (2), 18606567 (2), 12654199 (1) (see all 11)
    gastric carcinoma 8.26 4 12007281 (3), 11196187 (1)
    carcinoma 0 1 12007281 (1)

    Genetic Association Database (GAD): RAD50
    Human Genome Epidemiology (HuGE) Navigator: RAD50 (31 documents)

    Export disorders for RAD50 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RAD50 gene, integrated from 9 sources (see all 259):
    (articles sorted by number of sources associating them with RAD50)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Rad50 is physically associated with human Mre11: identification of a conserved multiprotein complex implicated in recombinational DNA repair. (PubMed id 8756642)1, 2, 3, 9 Dolganov G.M.... Petrini J.H.J. (1996)
    2. Nuclease activities in a complex of human recombination and DNA repair factors Rad50, Mre11, and p95. (PubMed id 9705271)1, 2, 3, 9 Trujillo K.M....Sung P. (1998)
    3. Molecular cloning and characterization of splice variants of human RAD50 gene. (PubMed id 10415333)1, 2, 9 Kim K.K....Park B.R. (1999)
    4. Evaluation of RAD50 in familial breast cancer predisposition. (PubMed id 16385572)1, 4, 9 Tommiska J....Rahman N. (2006)
    5. RINT-1, a novel Rad50-interacting protein, participates in radiation- induced G2/M checkpoint control. (PubMed id 11096100)1, 2, 9 Xiao J.... Lee W.-H. (2001)
    6. Genetic variation in the NBS1, MRE11, RAD50 and BLM g enes and susceptibility to non-Hodgkin lymphoma. (PubMed id 19917125)1, 4, 9 Schuetz J.M....Brooks-Wilson A.R. (2009)
    7. Cell-cycle-regulated association of RAD50/MRE11/NBS1 with TRF2 and human telomeres. (PubMed id 10888888)1, 2, 9 Zhu X.-D.... de Lange T. (2000)
    8. Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response. (PubMed id 10426999)1, 2, 9 Zhong Q.... Lee W.-H. (1999)
    9. Breast cancer risk is associated with the genes encoding the DNA double-strand break repair Mre11/Rad50/Nbs1 complex. (PubMed id 17932350)1, 4, 9 Hsu H.M....Yu J.C. (2007)
    10. DNA end-binding specificity of human Rad50/Mre11 is influenced by ATP. (PubMed id 12384589)1, 2, 9 de Jager M.... Kanaar R. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10111 HGNC: 9816 AceView: RAD50 Ensembl:ENSG00000113522 euGenes: HUgn10111
    ECgene: RAD50 Kegg: 10111 H-InvDB: RAD50

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RAD50 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAD50 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RAD50 gene:
    Search GeneIP for patents involving RAD50

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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