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RAD54L Gene

protein-coding   GIFtS: 69
GCID: GC01P046713

RAD54-Like (S. Cerevisiae)

(Previous name: RAD54 (S.cerevisiae)-like)
  See RAD54L-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
RAD54-Like (S. Cerevisiae)1 2     RAD54 (S.Cerevisiae)-Like1
RAD54A2 3     DNA Repair And Recombination Protein RAD54-Like2
hHR542 3     EC 3.6.4.-3
hRAD542 3     HRAD545
RAD54 Homolog2 3     EC 3.6.18
HR542 5     

External Ids:    HGNC: 98261   Entrez Gene: 84382   Ensembl: ENSG000000859997   OMIM: 6036155   UniProtKB: Q926983   
ORGUL members:         

Export aliases for RAD54L gene to outside databases

Previous GC identifers: GC01P046407 GC01P045670 GC01P046099 GC01P046083 GC01P046425 GC01P046485 GC01P044829


(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 RAD54L Gene:
The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with
Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA.
This protein has been shown to play a role in homologous recombination related repair of DNA double-strand
breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to
facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple
transcript variants encoding the same protein.(provided by RefSeq, Dec 2008)

GeneCards Summary for RAD54L Gene:
RAD54L (RAD54-like (S. cerevisiae)) is a protein-coding gene. Diseases associated with RAD54L include lymphoma, non-hodgkin, somatic, and adenocarcinoma, colonic, somatic. GO annotations related to this gene include helicase activity and annealing helicase activity. An important paralog of this gene is RAD54L2.

UniProtKB/Swiss-Prot: RAD54_HUMAN, Q92698
Function: Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52)
pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of
RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and
telomere capping in mammalian cells

Gene Wiki entry for RAD54L (DNA repair and recombination protein RAD54-like) 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 at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RAD54L gene promoter:
         STAT1   NF-1/L   NF-1   STAT1beta   CUTL1   STAT1alpha   YY1   STAT2   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRAD54L promoter sequence
   Search Chromatin IP Primers for RAD54L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RAD54L


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

Entrez Gene cytogenetic band: 1p32   Ensembl cytogenetic band:  1p34.1   HGNC cytogenetic band: 1p32

RAD54L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RAD54L gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P046713:  view genomic region     (about GC identifiers)

Start:
46,713,360 bp from pter      End:
46,744,145 bp from pter
Size:
30,786 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RAD54_HUMAN, Q92698 (See protein sequence)
Recommended Name: DNA repair and recombination protein RAD54-like  
Size: 747 amino acids; 84352 Da
Subunit: Interacts (via N-terminus) with RAD51
Secondary accessions: Q5TE31 Q6IUY3

Explore the universe of human proteins at neXtProt for RAD54L: NX_Q92698

Explore proteomics data for RAD54L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys302
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for RAD54L (Q92698) (see all 7)
     MGLGKTL  GTIEEKI  LMWTLLRQ  LRPHQREG 


    See RAD54L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001136020.1  NP_003570.2  

    ENSEMBL proteins: 
     ENSP00000361043   ENSP00000477172   ENSP00000476642   ENSP00000396113  

    RAD54L Human Recombinant Protein Products:

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    Novus Biologicals RAD54L Protein
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for RAD54L

     
    Search eBioscience for Proteins for RAD54L 

    RAD54L Antibody Products:

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    Cloud-Clone Corp. ELISAs for RAD54L
    Cloud-Clone Corp. CLIAs for RAD54L
    Search eBioscience for ELISAs for RAD54L 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR000330 SNF2_N
     IPR027417 P-loop_NTPase
     IPR013967 Rad54_N
     IPR014001 Helicase_ATP-bd
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q92698

    ProtoNet protein and cluster: Q92698

    1 Blocks protein domain: IPB000330 SNF2 related domain

    UniProtKB/Swiss-Prot: RAD54_HUMAN, Q92698
    Similarity: Belongs to the SNF2/RAD54 helicase family
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    Find genes that share domains with RAD54L           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RAD54_HUMAN, Q92698
    Function: Involved in DNA repair and mitotic recombination. Functions in the recombinational DNA repair (RAD52)
    pathway. Dissociates RAD51 from nucleoprotein filaments formed on dsDNA. Could be involved in the turnover of
    RAD51 protein-dsDNA filaments (By similarity). May play also an essential role in telomere length maintenance and
    telomere capping in mammalian cells
    Induction: Expression increases approximately 3-fold in late G1 phase compared to other phases of the cell cycle

         Genatlas biochemistry entry for RAD54L:
    yeast (S cerevisiae) RAD54 homolog,93kDa,SNF2/SW12 family,highly expressed in organs of germ cells and lymphoid
    development,recombinational protein associated with RAD51,involved in nucleotide excision repair of double-strand
    break and in meiotic recombination,RAD52 epistasis group,localized in a region of high loss of heterozygosity in
    breast cancer,potential tumor suppressor in parathyroid adenomas (see TSG1J) and in breast cancer with poor
    prognosis

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0004386helicase activity IEA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
         
    Find genes that share ontologies with RAD54L           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rad54l):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 

    Find genes that share phenotypes with RAD54L           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Rad54ltm1Jhjh for RAD54L

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RAD54L
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for RAD54L

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RAD54L
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RAD54L

    miRNA
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    miRTarBase miRNAs that target RAD54L:
    hsa-mir-26b-5p (MIRT028893)

    Block miRNA regulation of human, mouse, rat RAD54L using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate RAD54L:
    hsa-miR-3163 hsa-miR-629* hsa-miR-561 hsa-miR-3919 hsa-miR-3925-5p hsa-miR-1248
    SwitchGear 3'UTR luciferase reporter plasmidRAD54L 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RAD54L

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    GenScript: all cDNA clones in your preferred vector (see all 2): RAD54L (NM_003579)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAD54L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAD54L

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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAD54L


    (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
    RAD54_HUMAN, Q92698: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--

    Find genes that share ontologies with RAD54L           About GenesLikeMe


    (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 RAD54L About    
    See pathways by source

    SuperPathContained pathways About
    1Homologous recombination
    Homologous recombination0.40
    2Meiosis (EMD)
    Meiosis
    3Integrated Breast Cancer Pathway
    Integrated Breast Cancer Pathway


    Find genes that share SuperPaths with RAD54L           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for RAD54L
        Integrated Breast Cancer Pathway


    1 Kegg Pathway  (Kegg details for RAD54L):
        Homologous recombination

        Pathway & Disease-focused RT2 Profiler PCR Array including RAD54L: 
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for RAD54L

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

    Selected Interacting proteins for RAD54L (Q926981, 3 ENSP000003610434) via UniProtKB, MINT, STRING, and/or I2D (see all 181)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAD51Q066093, ENSP000002678684I2D: score=4 STRING: ENSP00000267868
    H3F3AP842433I2D: score=2 
    H3F3BP842433I2D: score=2 
    ACTR8Q9H9813, ENSP000003368424I2D: score=1 STRING: ENSP00000336842
    ASF1AQ9Y2943, ENSP000002295954I2D: score=1 STRING: ENSP00000229595
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IEA--
    GO:0000733DNA strand renaturation IDA--
    GO:0006281DNA repair TAS8805304
    GO:0006302double-strand break repair ----
    GO:0006310DNA recombination TAS8805304

    Find genes that share ontologies with RAD54L           About GenesLikeMe



    (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 RAD54L (RAD54)

    1 Novoseek inferred chemical compound relationship for RAD54L gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atp 47.2 9 15466868 (1), 10209103 (1), 12205100 (1), 11884632 (1)



    Find genes that share compounds with RAD54L           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for RAD54L gene (2 alternative transcripts): 
    NM_001142548.1  NM_003579.3  

    Unigene Cluster for RAD54L:

    RAD54-like (S. cerevisiae)
    Hs.642042  [show with all ESTs]
    Unigene Representative Sequence: NM_003579
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463715 ENST00000493985 ENST00000371975(uc001cpl.2) ENST00000469835
    ENST00000493032 ENST00000487700 ENST00000472889 ENST00000473251 ENST00000476687
    ENST00000488942 ENST00000459678 ENST00000442598(uc009vye.2)
    miRNA
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    Block miRNA regulation of human, mouse, rat RAD54L using miScript Target Protectors
    6 qRT-PCR Assays for microRNAs that regulate RAD54L:
    hsa-miR-3163 hsa-miR-629* hsa-miR-561 hsa-miR-3919 hsa-miR-3925-5p hsa-miR-1248
    SwitchGear 3'UTR luciferase reporter plasmidRAD54L 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): RAD54L (NM_003579)
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      QuantiFast Probe-based Assays in human, mouse, rat RAD54L

    Additional mRNA sequence: 

    AK292611.1 AK297204.1 BC121059.1 BC121060.1 X97795.1 

    Selected DOTS entries (see all 26):

    DT.100880544  DT.99987751  DT.101984839  DT.100871286  DT.455773  DT.95258380  DT.95258338  DT.99954029 
    DT.100880548  DT.102843187  DT.121326417  DT.121326420  DT.121326506  DT.121326364  DT.121326465  DT.40213611 
    DT.404972  DT.91948319  DT.99982975  DT.121326382  DT.91814854  DT.91847320  DT.92452538  DT.95258333 

    Selected AceView cDNA sequences (see all 132):

    BU160045 BQ225695 CA414068 AL040507 BM765732 BX363303 BU855314 BM720371 
    BX363903 BM746228 BG258318 BU552753 AV656808 BU633988 BM825772 BF115972 
    BU165801 BU553867 AL520104 AW079580 BM772100 BP338308 BQ441836 BM753165 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for RAD54L    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16
    SP1:                                                                                                      
    SP2:                                                                    -                                 
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for RAD54L

    (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)
    About This Section

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    RAD54L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATGTTTGCCC
    RAD54L Expression
    About this image


    RAD54L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    RAD54L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RAD54L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.642042
        Pathway & Disease-focused RT2 Profiler PCR Array including RAD54L: 
              DNA Repair in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAD54L

    (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 eukaryotes.

    Orthologs for RAD54L gene from Selected species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rad54l1 , 5 RAD54 like (S. cerevisiae)1, 5 89.54(n)1
    94.5(a)1
      4 (53.10 cM)5
    193661  NM_009015.31  NP_033041.31 
     1160942645 
    chicken
    (Gallus gallus)
    Aves RAD54L1 RAD54-like (S. cerevisiae) 76.34(n)
    85.02(a)
      424611  XM_422447.3  XP_422447.3 
    lizard
    (Anolis carolinensis)
    Reptilia RAD54L6
    RAD54-like (S. cerevisiae)
    84(a)
    1 ↔ 1
    4(112128562-112147944)
    African clawed frog
    (Xenopus laevis)
    Amphibia BI442106.12   -- 74.7(n)    BI442106.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc562892 similar to RAD54-like (S. cerevisiae) 76.23(n)   394119  BC046050.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta okr1 , 3 dorsal appendage formation ATP
    dependent DNA helicase3
    okra1
    54(a)3
    58.02(n)1
    55.98(a)1
      2 23C43
    335071  NM_057313.51  NP_476661.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y116A8C.133
    rad-541
    rad-541 34(a)3
    56.84(n)1
    59.43(a)1
      IV(16950225-16962960)3
    1727281  NM_060037.41  NP_492438.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD54(YGL163C)4
    RAD541
    DNA-dependent ATPase, stimulates strand exchange by more4
    RAD541
    54.26(n)1
    53.13(a)1
      7(196403-193707)4
    8527131, 4  NP_011352.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAD541 RAD54 53.41(n)
    49.25(a)
      821455  NM_112808.3  NP_188552.3 
    rice
    (Oryza sativa)
    Liliopsida Os02g07628001 Os02g0762800 54.37(n)
    50.2(a)
      4330819  NM_001054742.2  NP_001048207.2 


    ENSEMBL Gene Tree for RAD54L (if available)
    TreeFam Gene Tree for RAD54L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RAD54L gene
    RAD54L22  ATRX2  RAD54B2  
    3 SIMAP similar genes for RAD54L using alignment to 4 protein entries:     RAD54_HUMAN (see all proteins):
    DKFZp434J1672    RAD54B    HELLS

    Find genes that share paralogs with RAD54L           About GenesLikeMe



    (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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    Selected SNPs for RAD54L (see all 702)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0195594
    A colon adenocarcinoma sample4--see VAR_0195592 P H mis40--------
    VAR_0195614
    A breast cancer sample4--see VAR_0195612 G R mis40--------
    VAR_0195624
    A non-Hodgkin lymphoma sample4--see VAR_0195622 V E mis40--------
    rs1136213401,2
    C,F--46711519(+) GTAGAG/AACGGG 2 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1117169281,2
    C,F--46711876(+) ATCCGC/TCCGTC 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs283631881,2
    C,F--46713052(+) TCTAGC/GCCAAC 2 -- us2k11Minor allele frequency- G:0.01NS 160
    rs283631891,2
    C,F--46713139(+) GCTCCT/CCGCTG 2 -- us2k11Minor allele frequency- C:0.03NS 158
    rs800653591,2
    C,F--46718572(+) ACCCTA/GTTTCT 2 -- int11Minor allele frequency- G:0.01EA 120
    rs1126382551,2
    C,F--46725373(+) AACCTA/GGGAGG 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs1120211241,2
    C--46725989(+) GGAGG-/AGGAGTGA 2 -- int11Minor allele frequency- AGG:0.00CSA 2

    HapMap Linkage Disequilibrium report for RAD54L (46713360 - 46744145 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RAD54L:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829748CNV Loss17160897
    nsv470711CNV Gain18288195

    Human Gene Mutation Database (HGMD): RAD54L
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RAD54L
    DNA2.0 Custom Variant and Variant Library Synthesis for RAD54L

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603615   
    OMIM disorders: 114480  605027  
    9 diseases for RAD54L:    
    About MalaCards
    lymphoma, non-hodgkin, somatic    adenocarcinoma, colonic, somatic    breast cancer, invasive ductal    familial chronic lymphocytic leukemia
    brca1 and brca2 hereditary breast and ovarian cancer    brca2 hereditary breast and ovarian cancer    bloom syndrome    werner syndrome
    ovarian cancer

    1 disease from the University of Copenhagen DISEASES database for RAD54L:
    Bloom syndrome

    Find genes that share disorders with RAD54L           About GenesLikeMe

    5 Novoseek inferred disease relationships for RAD54L gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    bloom syndrome 72.1 2 10640146 (1)
    werner syndrome 68.3 2 10640146 (1)
    allelic imbalance 68.2 2 10640146 (1)
    xeroderma pigmentosum 59 2 10640146 (1)
    tumors 4.24 14 9192813 (2), 10640146 (2), 10326867 (2), 15056673 (1) (see all 5)

    Genetic Association Database (GAD): RAD54L
    Human Genome Epidemiology (HuGE) Navigator: RAD54L (18 documents)

    Export disorders for RAD54L 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 RAD54L gene, integrated from 10 sources (see all 52):
    (articles sorted by number of sources associating them with RAD54L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human and mouse homologs of the Saccharomyces cerevisiae RAD54 DNA repair gene: evidence for functional conservation. (PubMed id 8805304)1, 2, 3 Kanaar R.... Hoeijmakers J.H.J. (Curr. Biol. 1996)
    2. Homologous DNA pairing by human recombination factors Rad51 and Rad54. (PubMed id 12205100)1, 2, 9 Sigurdsson S.... Sung P. (J. Biol. Chem. 2002)
    3. Characterization of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors. (PubMed id 9192813)1, 2, 9 Rasio D.... Croce C.M. (Cancer Res. 1997)
    4. The architecture of the human Rad54-DNA complex provides evidence for protein translocation along DNA. (PubMed id 11459989)1, 2, 9 Ristic D.... Kanaar R. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    5. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (Breast Cancer Res. Treat. 2011)
    6. Gamma-radiation sensitivity and polymorphisms in RAD51L1 modulate glioma risk. (PubMed id 20610542)1, 4 Liu Y....Bondy M.L. (Carcinogenesis 2010)
    7. Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies. (PubMed id 20813000)1, 4 Shen M....Zheng T. (Br. J. Haematol. 2010)
    8. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    9. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (Am. J. Epidemiol. 2010)
    10. DNA repair gene polymorphisms and risk of pancreatic cancer. (PubMed id 19147782)1, 4 Li D....Abbruzzese J.L. (Clin. Cancer Res. 2009)

    (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: 8438 HGNC: 9826 AceView: RAD54L Ensembl:ENSG00000085999 euGenes: HUgn8438
    ECgene: RAD54L Kegg: 8438 H-InvDB: RAD54L

    (According to HUGE)
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      --

    (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 RAD54L Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RAD54L Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPshttp://egp.gs.washington.edu/data/rad54l/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RAD54L gene:
    Search GeneIP for patents involving RAD54L

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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