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

RAD54L Gene

protein-coding   GIFtS: 67
GCID: GC01P046713

RAD54-Like (S. Cerevisiae)

(Previous name: RAD54 (S.cerevisiae)-like)
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
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   

Export aliases for RAD54L gene to outside databases

Previous GC identifers: GC01P046407 GC01P045670 GC01P046099 GC01P046083 GC01P046425 GC01P046485 GC01P044829


(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 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 breast cancer, invasive ductal, and familial chronic lymphocytic leukemia, and among its related super-pathways are Homologous recombination. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for RAD54L

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Nucleus
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92698

  • 4/7 DME Specific Peptides for RAD54L (Q92698) (see all 7)
     MGLGKTL  GTIEEKI  LMWTLLRQ  LRPHQREG 

    RAD54L Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RAD54L Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001136020.1  NP_003570.2  

    ENSEMBL proteins: 
     ENSP00000361043   ENSP00000396113  

    Human Recombinant Protein Products for RAD54L: 
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    OriGene MassSpec for RAD54L 
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    Novus Biologicals RAD54L Protein
    Novus Biologicals RAD54L Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RAD54L 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--

    RAD54L for ontologies           About GeneDecksing



    RAD54L Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for RAD54L 

    Assay Products for RAD54L: 
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    Cloud-Clone Corp. ELISAs for RAD54L 
    Cloud-Clone Corp. CLIAs for RAD54L


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    RAD54L 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: 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): 5/9 molecular function terms (GO ID links to tree view) (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--
         
    RAD54L for ontologies           About GeneDecksing


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

    RAD54L for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rad54ltm1Jhjh for RAD54L

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RAD54L 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    6 QIAGEN miScript miRNA 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
    Products:
        
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RAD54L


    (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 RAD54L About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for RAD54L
        Meiosis


    1 BioSystems Pathway for RAD54L
        Integrated Breast Cancer Pathway


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


    RAD54L for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RAD54L

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

    5/91 Interacting proteins for RAD54L (Q926981, 3 ENSP000003610434) via UniProtKB, MINT, STRING, and/or I2D (see all 91)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RAD51Q066093, ENSP000002678684I2D: score=4 STRING: ENSP00000267868
    FEN1P397483, ENSP000003054804I2D: score=2 STRING: ENSP00000305480
    H3F3AP842433I2D: score=2 
    H3F3BP842433I2D: score=2 
    ASF1AQ9Y2943, ENSP000002295954I2D: score=1 STRING: ENSP00000229595
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (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

    RAD54L 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

    RAD54L for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about RAD54L / RAD54

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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 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)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    6 QIAGEN miScript miRNA 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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    OriGene ORF clones in mouse, rat for RAD54L
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    GenScript: all cDNA clones in your preferred vector (see all 2): RAD54L (NM_003579)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RAD54L
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RAD54L
    Sirion Biotech Customized lentivirus for stable overexpression of RAD54L 
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RAD54L

    Additional mRNA sequence: 

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

    24/26 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 

    24/132 AceView cDNA sequences (see all 132):

    BQ225695 BU165801 BU553867 AL520104 AW079580 BM772100 BP338308 BQ441836 
    BM753165 BF108535 BU932121 BQ277879 CR594300 BM745768 BX333113 BM773411 
    BU932120 AI474694 BU170678 BU855314 BM746228 BU160045 BX403014 CA414068 

    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™, 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

    RAD54L expression in normal human tissues (normalized intensities)      RAD54L embryonic expression: see
    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 
     5/10 selected tissues (see all 10) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Smooth Muscle (Muscoskeletal System)
             Human Intestinal Smooth Muscle Cells (HISMC)   
     
     Bone (Muscoskeletal System)
             bone marrow   
     
     Intestine (Muscoskeletal System)
             Human Intestinal Smooth Muscle Cells (HISMC)   
     
     Umbilical Cord (Extraembryonic Tissues)
             Human Umbilical Mesenchymal Stem Cells (HUMSC)   

    See RAD54L Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RAD54L

    SOURCE GeneReport for Unigene cluster: Hs.642042
        SABiosciences Expression via Pathway-Focused 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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RAD54L gene from 10/24 species (see all 24)    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_001122958.11  NP_001116430.11 
     1160942645 
    chicken
    (Gallus gallus)
    Aves RAD54L1 RAD54-like (S. cerevisiae) 76.34(n)
    85.02(a)
      424611  XM_422447.2  XP_422447.2 
    lizard
    (Anolis carolinensis)
    Reptilia RAD54L6
    Uncharacterized protein
    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
    58.16(n)1
    56.34(a)1
      2 23C43
    335071  NM_057313.41  NP_476661.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y116A8C.133
    rad-541
    Protein RAD-541 34(a)3
    54.99(n)1
    56.64(a)1
      IV(16950225-16962960)3
    1727281  NM_060037.31  NP_492438.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD54(YGL163C)4
    RAD541
    DNA-dependent ATPase, stimulates strand exchange by more4
    Rad54p1
    54.44(n)1
    53.51(a)1
      7(196403-193707)4
    8527131, 4  NP_011352.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons RAD541 Rad54-like protein 53.41(n)
    49.25(a)
      821455  NM_112808.3  NP_188552.3 
    rice
    (Oryza sativa)
    Liliopsida Os02g07628001 hypothetical protein 51.9(n)
    46.72(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)
    About This Section
    Paralogs for RAD54L gene
    RAD54L22  ATRX2  
    3 SIMAP similar genes for RAD54L using alignment to 2 protein entries:     RAD54_HUMAN (see all proteins):
    DKFZp434J1672    RAD54B    HELLS

    RAD54L for paralogs           About GeneDecksing



    (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

    10/702 SNPs in RAD54L are shown (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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603615   
    OMIM disorders: 114480  605027  
    20/21 diseases for RAD54L (see all 21):    About MalaCards
    breast cancer, invasive ductal    familial chronic lymphocytic leukemia    chronic lymphocytic leukemia    bloom syndrome
    werner syndrome    parathyroid adenoma    xeroderma pigmentosum    severe combined immunodeficiency
    oligodendroglioma    meningioma    pneumonia    adenoma
    pancreatic cancer    multiple sclerosis    tuberculosis    breast cancer
    pancreatitis    adenocarcinoma    ovarian cancer    leukemia

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

    RAD54L for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for RAD54L gene, integrated from 9 sources (see all 51):
    (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. (1996)
    2. Homologous DNA pairing by human recombination factors Rad51 and Rad54. (PubMed id 12205100)1, 2, 9 Sigurdsson S.... Sung P. (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. (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. (2001)
    5. Gamma-radiation sensitivity and polymorphisms in RAD5 1L1 modulate glioma risk. (PubMed id 20610542)1, 4 Liu Y....Bondy M.L. (2010)
    6. Polymorphisms in DNA repair genes and risk of non-Hod gkin lymphoma in a pooled analysis of three studies. (PubMed id 20813000)1, 4 Shen M....Zheng T. (2010)
    7. Comprehensive screen of genetic variation in DNA repa ir pathway genes and postmenopausal breast cancer risk. (PubMed id 20496165)1, 4 Monsees G.M....Han J. (2010)
    8. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    9. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PubMed id 20522537)1, 4 Briggs F.B....Barcellos L.F. (2010)
    10. DNA repair gene polymorphisms and risk of pancreatic cancer. (PubMed id 19147782)1, 4 Li D....Abbruzzese J.L. (2009)

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

    (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 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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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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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