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RAD21 Gene

protein-coding   GIFtS: 69
GCID: GC08M117858

RAD21 Homolog (S. Pombe)

(Previous name: RAD21 (S. pombe) homolog)
  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)
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Aliases
RAD21 Homolog (S. Pombe)1 2     CDLS42 5
NXP12 3 5     SCC12 5
Sister Chromatid Cohesion 11 2     KIAA00783 5
Nuclear Matrix Protein 12 3     RAD21 (S. Pombe) Homolog1
HR212 3     HRAD212
NXP-12 3     MCD12
hHR212 3     Double-Strand-Break Repair Protein Rad21 Homolog2
SCC1 Homolog2 3     Protein Involved In DNA Double-Strand Break Repair2

External Ids:    HGNC: 98111   Entrez Gene: 58852   Ensembl: ENSG000001647547   OMIM: 6064625   UniProtKB: O602163   

Export aliases for RAD21 gene to outside databases

Previous GC identifers: GC08M116846 GC08M117919 GC08M117526 GC08M117814 GC08M117927 GC08M113184


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RAD21 Gene:
The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad21, a gene
involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein
is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated
association of this protein with mitotic chromatin specifically at the centromere region suggests its role in
sister chromatid cohesion in mitotic cells. (provided by RefSeq, Jul 2008)

GeneCards Summary for RAD21 Gene:
RAD21 (RAD21 homolog (S. pombe)) is a protein-coding gene. Diseases associated with RAD21 include rad21-related cornelia de lange syndrome, and cornelia de lange syndrome 4. An important paralog of this gene is RAD21L1.

UniProtKB/Swiss-Prot: RAD21_HUMAN, O60216
Function: Cleavable component of the cohesin complex, involved in chromosome cohesion during cell cycle, in DNA
repair, and in apoptosis. The cohesin complex is required for the cohesion of sister chromatids after DNA
replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can
be trapped. At metaphase-anaphase transition, this protein is cleaved by separase/ESPL1 and dissociates from
chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole
assembly during mitosis. Also plays a role in apoptosis, via its cleavage by caspase-3/CASP3 or caspase-7/CASP7
during early steps of apoptosis: the C-terminal 64 kDa cleavage product may act as a nuclear signal to initiate
cytoplasmic events involved in the apoptotic pathway

Gene Wiki entry for RAD21 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NC_018919.2  NT_008046.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAD21 gene promoter:
         RFX1   FOXF2   Evi-1   PPAR-alpha   POU2F1   POU2F1a   FOXJ2 (long isoform)   FOXJ2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 6): RAD21 promoter sequence
   Search Chromatin IP Primers for RAD21

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAD21


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

Entrez Gene cytogenetic band: 8q24   Ensembl cytogenetic band:  8q24.11   HGNC cytogenetic band: 8q24.11

RAD21 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAD21 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M117858:  view genomic region     (about GC identifiers)

Start:
117,858,173 bp from pter      End:
117,887,105 bp from pter
Size:
28,933 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RAD21_HUMAN, O60216 (See protein sequence)
Recommended Name: Double-strand-break repair protein rad21 homolog  
Size: 631 amino acids; 71690 Da
Subunit: Cohesin complexes are composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge
domain, RAD21 which link them, and one STAG protein (STAG1, STAG2 or STAG3), which interacts with RAD21. Found in
a complex with SMC1A, SMC3, CDCA5, PDS5A/APRIN and PDS5B/SCC-112. Interacts with PDS5B and WAPAL; the interaction
is direct
Sequence caution: Sequence=BAA07554.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A8K0E0 Q15001 Q99568

Explore the universe of human proteins at neXtProt for RAD21: NX_O60216

Explore proteomics data for RAD21 at MOPED

Post-translational modifications: 

  • Cleaved by separase/ESPL1 at the onset of anaphase. Cleaved by caspase-3 and caspase-7 at the beginning of
    apoptosis. The cleavage by ESPL1 and caspase-3 take place at different sites1
  • Phosphorylated; becomes hyperphosphorylated in M phase of cell cycle. The large dissociation of cohesin from
    chromosome arms during prophase may be partly due to its phosphorylation by PLK1
  • Ubiquitination2 at Lys70, Lys72, Lys86, Lys364, Lys371, Lys387, Lys573, Lys596, Lys605
  • Modification sites at PhosphoSitePlus

  • See RAD21 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006256.1  
    ENSEMBL proteins: 
     ENSP00000297338   ENSP00000428513   ENSP00000430273   ENSP00000428003   ENSP00000429342  
     ENSP00000427923   ENSP00000430524   ENSP00000428158  
    Reactome Protein details: O60216

    RAD21 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for RAD21
    OriGene Custom MassSpec
    OriGene Custom Protein Services for RAD21
    GenScript Custom Purified and Recombinant Proteins Services for RAD21
    Novus Biologicals RAD21 Protein
    Novus Biologicals RAD21 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RAD21

    RAD21 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of RAD21
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for RAD21 
    OriGene Antibodies for RAD21
    OriGene Custom Antibody Services for RAD21
    Novus Biologicals RAD21 Antibodies
    Abcam antibodies for RAD21
    Cloud-Clone Corp. Antibodies for RAD21
    ThermoFisher Antibody for RAD21
    LSBio Antibodies in human, mouse, rat for RAD21

    RAD21 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RAD21
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RAD21
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RAD21
    Cloud-Clone Corp. CLIAs for RAD21


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR023093 Rad21/Rec8_C
     IPR006909 Rad21/Rec8_C_eu
     IPR006910 Rad21_Rec8_N

    Graphical View of Domain Structure for InterPro Entry O60216

    ProtoNet protein and cluster: O60216

    UniProtKB/Swiss-Prot: RAD21_HUMAN, O60216
    Domain: The C-terminal part associates with the head of SMC1A, while the N-terminal part binds to the head of SMC3
    (By similarity)
    Similarity: Belongs to the rad21 family


    RAD21 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAD21_HUMAN, O60216
    Function: Cleavable component of the cohesin complex, involved in chromosome cohesion during cell cycle, in DNA
    repair, and in apoptosis. The cohesin complex is required for the cohesion of sister chromatids after DNA
    replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can
    be trapped. At metaphase-anaphase transition, this protein is cleaved by separase/ESPL1 and dissociates from
    chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole
    assembly during mitosis. Also plays a role in apoptosis, via its cleavage by caspase-3/CASP3 or caspase-7/CASP7
    during early steps of apoptosis: the C-terminal 64 kDa cleavage product may act as a nuclear signal to initiate
    cytoplasmic events involved in the apoptotic pathway

         Genatlas biochemistry entry for RAD21:
    yeast (S pombe),RAD21 homolog,highly expressed in testis,thymus,involved in nucleotide excision repair of ionizing
    radiation induced DNA double-strand break

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12672959
         
    RAD21 for ontologies           About GeneDecksing


    Phenotypes:
         5 GenomeRNAi human phenotypes for RAD21:
     Decreased TP53 protein express  Increased ID2::GFP protein exp  Increased cell death in breast  Low eccentricity cells 
     Upregulation of Wnt/beta-caten 

         4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Rad21):
     hematopoietic system  immune system  mortality/aging  reproductive system 

    RAD21 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAD21
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RAD21

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAD21
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAD21

    miRNA
    Products:
        
    miRTarBase miRNAs that target RAD21:
    hsa-let-7a-5p (MIRT052491), hsa-mir-192-5p (MIRT026196), hsa-mir-191-5p (MIRT045808), hsa-mir-215-5p (MIRT024779)

    Block miRNA regulation of human, mouse, rat RAD21 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAD21 (see all 27):
    hsa-miR-320a hsa-miR-16-2* hsa-miR-181c hsa-miR-25 hsa-let-7a-2* hsa-miR-511 hsa-let-7g* hsa-miR-18b*
    SwitchGear 3'UTR luciferase reporter plasmidRAD21 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for RAD21
    Predesigned siRNA for gene silencing in human, mouse, rat RAD21

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RAD21

    Clone
    Products:
         
    OriGene clones in human, mouse for RAD21 (see all 7)
    OriGene ORF clones in mouse, rat for RAD21
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RAD21 (NM_006265)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAD21
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAD21

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RAD21
    Browse ESI BIO Cell Lines and PureStem Progenitors for RAD21 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAD21


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RAD21_HUMAN, O60216: Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase
    it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin
    probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase,
    it is cleaved by separase/ESPL1, leading to the dissociation of the complex from chromosomes, allowing chromosome
    separation. Once cleaved by caspase-3, the C-terminal 64 kDa cleavage product translocates to the cytoplasm,
    where it may trigger apoptosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    cytoskeleton1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000228nuclear chromosome ----
    GO:0000775chromosome, centromeric region TAS--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005694chromosome TAS--

    RAD21 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RAD21 About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    Separation of Sister Chromatids0.94
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    3Mitotic Prometaphase
    Mitotic Prometaphase0.92
    Resolution of Sister Chromatid Cohesion0.92
    4CDK-mediated phosphorylation and removal of Cdc6
    S Phase0.78
    Establishment of Sister Chromatid Cohesion0.00
    5Packaging Of Telomere Ends
    Meiotic Synapsis0.66
    Chromosome Maintenance0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for RAD21
        Chromatin Regulation / Acetylation
    Cell Cycle / Checkpoint Control
    DNA Damage

    1 GeneGo (Thomson Reuters) Pathway for RAD21
        Cell cycle Spindle assembly and chromosome separation

    5 Reactome Pathways for RAD21
        Cohesin Loading onto Chromatin
    Establishment of Sister Chromatid Cohesion
    Resolution of Sister Chromatid Cohesion
    Separation of Sister Chromatids
    Meiotic synapsis


    1 Kegg Pathway  (Kegg details for RAD21):
        Cell cycle


    RAD21 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including RAD21: 
              Cell Cycle in human mouse rat
              TGFB Signaling Targets in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for RAD21

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

    Selected Interacting proteins for RAD21 (O602161, 2, 3 ENSP000002973384) via UniProtKB, MINT, STRING, and/or I2D (see all 898)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMC3Q9UQE71, 2, 3, ENSP000003547204EBI-80739,EBI-80718 MINT-6178106 MINT-8081286 MINT-8385079 MINT-8081321 MINT-7914988 MINT-6178206 MINT-7945693 MINT-8080160 MINT-6178091 MINT-8081303 MINT-8385100 I2D: score=3 STRING: ENSP00000354720
    SSU72Q9NP771, 2, 3, ENSP000002913864EBI-80739,EBI-2515416 MINT-8081286 MINT-8081321 MINT-8081344 MINT-8081406 MINT-8081393 MINT-8080160 MINT-8081303 MINT-8081377 MINT-8080156 I2D: score=2 STRING: ENSP00000291386
    SMC2O953472, 3, ENSP000002863984MINT-7945693 I2D: score=2 STRING: ENSP00000286398
    CHD3Q128732, 3, ENSP000003697164MINT-7945693 I2D: score=1 STRING: ENSP00000369716
    STAG2Q8N3U42, 3, ENSP000002180894MINT-6178106 MINT-8081286 MINT-8081321 MINT-7914988 MINT-8080160 MINT-8081377 I2D: score=9 STRING: ENSP00000218089
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006302double-strand break repair TAS8812457
    GO:0006310DNA recombination TAS8812457
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA19468298
    GO:0006915apoptotic process IEA--

    RAD21 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RAD21

    1 Novoseek inferred chemical compound relationship for RAD21 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycolipid 45 1 9820479 (1)



    RAD21 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RAD21 gene: 
    NM_006265.2  

    Unigene Cluster for RAD21:

    RAD21 homolog (S. pombe)
    Hs.81848  [show with all ESTs]
    Unigene Representative Sequence: NM_006265
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297338(uc003yod.3) ENST00000523986 ENST00000517749 ENST00000518055
    ENST00000520992 ENST00000517485 ENST00000523547 ENST00000519837 ENST00000522699
    ENST00000519469
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat RAD21 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RAD21 (see all 27):
    hsa-miR-320a hsa-miR-16-2* hsa-miR-181c hsa-miR-25 hsa-let-7a-2* hsa-miR-511 hsa-let-7g* hsa-miR-18b*
    SwitchGear 3'UTR luciferase reporter plasmidRAD21 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for RAD21
    Predesigned siRNA for gene silencing in human, mouse, rat RAD21
    Clone
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    OriGene clones in human, mouse for RAD21 (see all 7)
    OriGene ORF clones in mouse, rat for RAD21
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: RAD21 (NM_006265)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAD21
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAD21
    Primer
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    OriGene qPCR primer pairs and template standards for RAD21
    OriGene qSTAR qPCR primer pairs in human, mouse for RAD21
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RAD21
      QuantiTect SYBR Green Assays in human, mouse, rat RAD21
      QuantiFast Probe-based Assays in human, mouse, rat RAD21

    Additional mRNA sequence: 

    AK097915.1 AK098521.1 AK125620.1 AK289505.1 BC001229.2 BC050381.1 D38551.1 X98294.1 

    Selected DOTS entries (see all 29):

    DT.97771208  DT.100670854  DT.452774  DT.100670857  DT.92414550  DT.92412530  DT.92464093  DT.100670867 
    DT.95095804  DT.95168507  DT.121468904  DT.100670863  DT.95325953  DT.95168515  DT.121468959  DT.100670866 
    DT.121468905  DT.91952378  DT.100723214  DT.121468816  DT.92393545  DT.95083595  DT.100044821  DT.121468853 

    Selected AceView cDNA sequences (see all 837):

    BM739843 AW239251 AW503107 AW849657 BU623195 BP367901 AA890674 BQ229673 
    BF590668 AI335826 BP376009 AA331424 BC050381 AA459209 AI637554 BX474007 
    BX437743 BM927599 AA748368 BM833939 BQ222984 BM693157 BG527438 AW662956 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RAD21 (see all 9)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^
    SP1:        -     -     -     -     -     -                                                                                         -     -                     
    SP2:                          -     -     -                                                                                                                     
    SP3:                                                                                                                                                            
    SP4:              -     -     -     -     -                       -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP5:              -     -     -     -     -                                                                                                                     

    ExUns: 16a · 16b ^ 17a · 17b · 17c
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:  -                           
    SP5:                              


    ECgene alternative splicing isoforms for RAD21

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RAD21 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGACTGTTAT
    RAD21 Expression
    About this image


    RAD21 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Granulocytes Peripheral Blood
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
             Metanephros
    RAD21 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAD21 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.81848
        Pathway & Disease-focused RT2 Profiler PCR Arrays including RAD21: 
              Cell Cycle in human mouse rat
              TGFB Signaling Targets in human mouse rat
              DNA Damage Signaling Pathway 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)
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    This gene was present in the common ancestor of animals.

    Orthologs for RAD21 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rad211 , 5 RAD21 homolog (S. pombe)1, 5 87.8(n)1
    97.31(a)1
      15 (19.54 cM)5
    193571  NM_009009.41  NP_033035.31 
     519626055 
    chicken
    (Gallus gallus)
    Aves RAD211 RAD21 homolog (S. pombe) 83.02(n)
    93.49(a)
      420286  NM_001030950.1  NP_001026121.1 
    lizard
    (Anolis carolinensis)
    Reptilia RAD216
    RAD21 homolog (S. pombe)
    92(a)
    1 ↔ 1
    4(7050808-7082307)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.60462 Xenopus laevis 14S cohesin RAD21 subunit mRNA, complete more 79.75(n)    AF051786.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rad212 RAD21 homolog (S. pombe) 76.37(n)   322275  BC045311.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rad213
    vtd1
    mitotic sister chromatid cohesion3
    verthandi1
    37(a)3
    55.23(n)1
    52.78(a)1
      33548961  NM_001015132.21  NP_001015132.11 
    worm
    (Caenorhabditis elegans)
    Secernentea coh-13 S. pombe double-strand-break repair
    protein, RAD21
    34(a)
    (best of 2)
        --


    ENSEMBL Gene Tree for RAD21 (if available)
    TreeFam Gene Tree for RAD21 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAD21 gene
    RAD21L12  
    2 SIMAP similar genes for RAD21 using alignment to 8 protein entries:     RAD21_HUMAN (see all proteins):
    RAD21L    RAD21L1

    RAD21 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for RAD21
    PGOHUM00000241906


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    RAD21_HUMAN, O60216: Some radiosensitive cancer patients seem to have Arg-481 instead of the conserved Gly-481. It may be
    that this mutation could contribute to radiosensitivity


    Selected SNPs for RAD21 (see all 776)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0686914
    Cornelia de Lange syndrome 4 (CDLS4)4--see VAR_0686912 P R mis40--------
    VAR_0686924
    Cornelia de Lange syndrome 4 (CDLS4)4--see VAR_0686922 C R mis40--------
    rs168939921,2
    C,F--113196270(-) GAATTAAAGTT/-
            
    TAAAC
    1 -- int11Minor allele frequency- -:0.17NS 170
    rs676801231,2
    C--117861000(+) TAATA-/A/AA  
            
    AAAAA
    1 -- int10--------
    rs168939901,2
    C,F--117862202(-) ATCGGAT/-ATGTT 1 -- int11Minor allele frequency- -:0.01NS 166
    rs1506119141,2
    C--117863366(+) TAATA-/AA    
       T
    /ATA
    GGAGT
    2 -- cds10--------
    rs340004221,2
    C--117867947(+) TTTTT-/TAAAAA 1 -- int10--------
    rs355461271,2
    C--117868237(+) AGAAG-/CCTAGT 1 -- int10--------
    rs583762511,2
    C--117868824(+) ATGGT-/TAAGTA 1 -- int10--------
    rs344494461,2
    C--117870472(+) ATGAA-/AATGCAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for RAD21 (117858173 - 117887105 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RAD21:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv6359CNV Insertion18451855
    esv271630CNV Insertion20981092
    dgv7871n71CNV Loss21882294
    nsv831434CNV Gain17160897

    Human Gene Mutation Database (HGMD): RAD21
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAD21
    DNA2.0 Custom Variant and Variant Library Synthesis for RAD21

    (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.)
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    OMIM gene information: 606462   
    OMIM disorders: 614701  
    UniProtKB/Swiss-Prot: RAD21_HUMAN, O60216
  • Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701]: A form of Cornelia de Lange syndrome, a clinically
    heterogeneous developmental disorder associated with malformations affecting multiple systems. It is
    characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism,
    gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for RAD21 (see all 28):    
    About MalaCards
    rad21-related cornelia de lange syndrome    cornelia de lange syndrome 4    roberts syndrome    cornelia de lange syndrome 1
    cornelia de lange syndrome    familial breast cancer    kaposi's sarcoma    fanconi's anemia
    oral squamous cell carcinoma    chronic lymphocytic leukemia    sarcoma    tonsillitis
    schizophrenia    squamous cell carcinoma    hypoxia    pancreatic cancer
    pancreatitis    prostatitis    prostate cancer    hiv-1

    2 diseases from the University of Copenhagen DISEASES database for RAD21:
    Cornelia de Lange syndrome     Roberts syndrome

    RAD21 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for RAD21 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 3 11483345 (2), 15767545 (1)

    Genetic Association Database (GAD): RAD21
    Human Genome Epidemiology (HuGE) Navigator: RAD21 (4 documents)

    Export disorders for RAD21 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)
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    PubMed articles for RAD21 gene, integrated from 10 sources (see all 111):
    (articles sorted by number of sources associating them with RAD21)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequence conservation of the rad21 Schizosaccharomyces pombe DNA double-strand break repair gene in human and mouse. (PubMed id 8812457)1, 2, 3 McKay M.J.... Hoeijmakers J.H.J. (Genomics 1996)
    2. Human chromatid cohesin component hRad21 is phosphorylated in M phase and associated with metaphase centromeres. (PubMed id 11073952)1, 2, 9 Hoque M.T. and Ishikawa F. (J. Biol. Chem. 2001)
    3. Novel DNA sequence variants in the hHR21 DNA repair gene in radiosensitive cancer patients. (PubMed id 11483345)1, 2, 9 Severin D.M.... McKay M. (Int. J. Radiat. Oncol. Biol. Phys. 2001)
    4. Cohesin cleavage by separase required for anaphase and cytokinesis in human cells. (PubMed id 11509732)1, 2, 9 Hauf S.... Peters J.-M. (Science 2001)
    5. RAD21 mutations cause a human cohesinopathy. (PubMed id 22633399)1, 2 Deardorff M.A.... Kaiser F.J. (Am. J. Hum. Genet. 2012)
    6. Genetic variants in apoptosis and immunoregulation-related genes are associated with risk of chronic lymphocytic leukemia. (PubMed id 19074885)1, 4 Enjuanes A....Campo E. (Cancer Res. 2008)
    7. Single nucleotide polymorphisms, apoptosis, and the development of severe late adverse effects after radiotherapy. (PubMed id 18829510)1, 4 Azria D....Rosenstein B.S. (Clin. Cancer Res. 2008)
    8. Sororin, a substrate of the anaphase-promoting complex, is required for sister chromatid cohesion in vertebrates. (PubMed id 15837422)1, 2 Rankin S.... Kirschner M.W. (Mol. Cell 2005)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 5885 HGNC: 9811 AceView: RAD21 Ensembl:ENSG00000164754 euGenes: HUgn5885
    ECgene: RAD21 Kegg: 5885 H-InvDB: RAD21

    (According to HUGE)
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    HUGE: KIAA0078

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RAD21 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAD21 Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/rad21/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAD21 gene:
    Search GeneIP for patents involving RAD21

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



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