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RECQL4 Gene

protein-coding   GIFtS: 61
GCID: GC08M145743

RecQ Protein-Like 4

  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
RecQ Protein-Like 41 2 3     ATP-Dependent DNA Helicase Q42
RECQ42 3 5     DNA Helicase, RecQ-Like, Type 42
DNA Helicase, RecQ-Like Type 42 3     EC 3.6.4.123
RTS3 5     RecQ43

External Ids:    HGNC: 99491   Entrez Gene: 94012   Ensembl: ENSG000001609577   OMIM: 6037805   UniProtKB: O947613   

Export aliases for RECQL4 gene to outside databases

Previous GC identifers: GC08M143300 GC08M145774 GC08M145341 GC08M145741 GC08M145707 GC08M145738 GC08M140849 GC08M145739


(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 RECQL4 Gene:
The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind
double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly
expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and
Baller-Gerold syndromes. (provided by RefSeq, Jan 2010)

GeneCards Summary for RECQL4 Gene:
RECQL4 (RecQ protein-like 4) is a protein-coding gene. Diseases associated with RECQL4 include recql4-related disorders, and rothmund-thomson syndrome. GO annotations related to this gene include bubble DNA binding and ATP-dependent 3'-5' DNA helicase activity. An important paralog of this gene is WRN.

UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761
Function: DNA-dependent ATPase. May modulate chromosome segregation

Gene Wiki entry for RECQL4 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 RECQL4 gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRECQL4 promoter sequence
   Search Chromatin IP Primers for RECQL4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RECQL4


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

Entrez Gene cytogenetic band: 8q24.3   Ensembl cytogenetic band:  8q24.3   HGNC cytogenetic band: 8q24.3

RECQL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RECQL4 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M145743:  view genomic region     (about GC identifiers)

Start:
145,736,667 bp from pter      End:
145,743,229 bp from pter
Size:
6,563 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761 (See protein sequence)
Recommended Name: ATP-dependent DNA helicase Q4  
Size: 1208 amino acids; 133077 Da
Subunit: Interacts with UBR1 and UBR2. Interacts with MCM10; this interaction regulates RECQL4 unwinding activity
Sequence caution: Sequence=AAH13277.2; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for RECQL4:
2KMU (3D)    
Secondary accessions: Q3Y424 Q96DW2 Q96F55

Explore the universe of human proteins at neXtProt for RECQL4: NX_O94761

Explore proteomics data for RECQL4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RECQL4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004251.3  
    ENSEMBL proteins: 
     ENSP00000476426   ENSP00000477457   ENSP00000476551   ENSP00000476579   ENSP00000476318  
     ENSP00000475456  

    RECQL4 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for RECQL4

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    Cloud-Clone Corp. CLIAs for RECQL4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 7):
     IPR011545 DNA/RNA_helicase_DEAD/DEAH_N
     IPR021110 DNA_rep_checkpnt_protein
     IPR004589 DNA_helicase_ATP-dep_RecQ
     IPR027417 P-loop_NTPase
     IPR014001 Helicase_ATP-bd

    Graphical View of Domain Structure for InterPro Entry O94761

    ProtoNet protein and cluster: O94761

    1 Blocks protein domain: IPB002464 ATP-dependent helicase

    UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761
    Similarity: Belongs to the helicase family. RecQ subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    RECQL4 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: RECQ4_HUMAN, O94761
    Function: DNA-dependent ATPase. May modulate chromosome segregation
    Catalytic activity: ATP + H(2)O = ADP + phosphate
    Induction: Up-regulated in actively dividing cells

         Genatlas biochemistry entry for RECQL4:
    DNA helicase ATP dependent,with E coli RecQ,expressed in thymus and testis as the BLM gene and up-regulated at the
    G1/S and G2/M stage of the cell cycle,involved in the maintenance of genomic integrity

         Enzyme Number (IUBMB): EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000405bubble DNA binding IDA19177149
    GO:0003676nucleic acid binding ----
    GO:0004386helicase activity ----
    GO:0005524ATP binding IDA19177149
    GO:0008026ATP-dependent helicase activity ----
         
    RECQL4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RECQL4:
     Decreased homologous recombina 

         14 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Recql4):
     cellular  craniofacial  digestive/alimentary  embryogenesis  growth/size/body 
     hematopoietic system  immune system  integument  limbs/digits/tail  mortality/aging 
     pigmentation  skeleton  tumorigenesis  vision/eye 

    RECQL4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for RECQL4: Recql4tm1Glu Recql4tm1Abe

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RECQL4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RECQL4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RECQL4

    miRNA
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    miRTarBase miRNAs that target RECQL4:
    hsa-mir-615-3p (MIRT039905), hsa-mir-193b-3p (MIRT016439)

    Block miRNA regulation of human, mouse, rat RECQL4 using miScript Target Protectors
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    Predesigned siRNA for gene silencing in human, mouse, rat RECQL4

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    GenScript: all cDNA clones in your preferred vector: RECQL4 (NM_004260)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RECQL4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RECQL4

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RECQL4


    (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
    RECQ4_HUMAN, O94761: Cytoplasm. Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    RECQL4 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 RECQL4 About    
    See pathways by source

    SuperPathContained pathways About
    1Cell Cycle / Checkpoint Control
    Cell Cycle / Checkpoint Control0.32
    DNA Damage0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for RECQL4
        Cell Cycle / Checkpoint Control
    DNA Damage



    RECQL4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RECQL4
    Interactions:

        GeneGlobe Interaction Network for RECQL4

    4 Interacting proteins for RECQL4 (O947612, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRSS23O950842, 3MINT-63244 I2D: score=4 
    EP300Q094723I2D: score=1 
    PPP2R2BQ000053I2D: score=1 
    RECQL5O947623I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000733DNA strand renaturation IDA19177149
    GO:0001501skeletal system development ----
    GO:0006260DNA replication IDA19177149
    GO:0006281DNA repair TAS9878247
    GO:0006310DNA recombination IEA--

    RECQL4 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 RECQL4 (RECQ4)

    2 Novoseek inferred chemical compound relationships for RECQL4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydroxyurea 45 5 18504617 (2), 18693251 (1)
    h2o2 3.36 2 16949575 (1), 18616953 (1)



    RECQL4 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,
    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 RECQL4 gene: 
    NM_004260.3  

    Unigene Cluster for RECQL4:

    RecQ protein-like 4
    Hs.31442  [show with all ESTs]
    Unigene Representative Sequence: BC020496
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532237 ENST00000532269 ENST00000301323 ENST00000531875 ENST00000529424
    ENST00000534626 ENST00000532846 ENST00000524998 ENST00000534538 ENST00000534270
    ENST00000428558(uc003zdj.3)
    miRNA
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    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for RECQL4
    Predesigned siRNA for gene silencing in human, mouse, rat RECQL4
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RECQL4
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      QuantiTect SYBR Green Assays in human, mouse, rat RECQL4
      QuantiFast Probe-based Assays in human, mouse, rat RECQL4

    Additional mRNA sequence: 

    AB006532.1 BC011602.2 BC013277.2 BC020496.2 

    10 DOTS entries:

    DT.409421  DT.91829401  DT.121487236  DT.92425820  DT.100755281  DT.92030793  DT.102843665  DT.121487256 
    DT.95308835  DT.97813869 

    Selected AceView cDNA sequences (see all 88):

    BF513150 AI590776 BE466402 BC011602 BM854499 BE869080 BQ215879 BF909603 
    BC013277 BE513519 BQ649577 AI341050 BM702983 BU902971 BE349634 BX390943 
    BM679729 BM763607 BU957442 BG337750 CA489272 BQ072016 BU171530 BM847781 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RECQL4 (see all 8)    About this scheme

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

    ExUns: 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20a · 20b · 20c
    SP1:                    -                                       
    SP2:                                                            
    SP3:              -     -                                       
    SP4:                                                            
    SP5:                                                            


    ECgene alternative splicing isoforms for RECQL4

    (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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    RECQL4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCTGGTGGG
    RECQL4 Expression
    About this image


    RECQL4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
    RECQL4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RECQL4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.31442

    UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761
    Tissue specificity: Ubiquitously expressed, with highest levels in thymus and testis

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RECQL4

    (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 and fungi.

    Orthologs for RECQL4 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Recql41 , 5 RecQ protein-like 41, 5 73.3(n)1
    67.69(a)1
      15 (36.28 cM)5
    794561  NM_058214.31  NP_478121.21 
     767035535 
    chicken
    (Gallus gallus)
    Aves RECQL46
    RecQ protein-like 4
    56(a)
    1 ↔ 1
    AADN03021853.1(21-6277)
    lizard
    (Anolis carolinensis)
    Reptilia RECQL46
    RecQ protein-like 4
    46(a)
    1 ↔ 1
    GL343636.1(210138-275375)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.333792 Xenopus laevis transcribed sequence with weak similarity more 72.09(n)    CA980961.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5673831 ATP-dependent DNA helicase Q4-like 56.14(n)
    50.69(a)
      567383  XM_001920596.4  XP_001920631.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta RecQ43 ATP dependent DNA helicase 41(a)   66B10   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SGS16
    Nucleolar DNA helicase of the RecQ family; involve...
    13(a)
    1 → many
    XIII(640915-645258) YMR190C


    ENSEMBL Gene Tree for RECQL4 (if available)
    TreeFam Gene Tree for RECQL4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RECQL4 gene
    WRN2  RECQL52  RECQL2  BLM2  

    RECQL4 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), 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 RECQL4 (see all 462)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0265914
    Baller-Gerold syndrome (BGS)4--see VAR_0265912 R W mis40--------
    rs1378532291,2
    Cpathogenic1141985249(-) GGGTAC/TAGCGA 2 Q * stg10--------
    rs1378532321,2
    Cpathogenic1141986340(-) GTGTGC/TGGCGT 2 R W mis10--------
    rs1502894241,2
    C--140849335(+) CCCAGG/TGTCAG 1 -- ds50011Minor allele frequency- T:0.00NA 4538
    rs1379081541,2
    C,F--140849373(+) TCTTGG/AGAGGC 1 -- ds50012Minor allele frequency- A:0.00NA EU 5679
    rs1490484241,2
    F--140849408(+) GGGATG/AATGCG 1 -- ds50011Minor allele frequency- A:0.00NA 4544
    rs733776271,2
    C,F--140849412(+) TGATGC/TGCTGC 1 -- ds50013Minor allele frequency- T:0.01WA NA EU 5591
    rs1910442061,2
    C--140849413(+) GATGCA/GCTGCA 1 -- ds50010--------
    rs1387733711,2
    C,F--140849425(+) CCAGCT/CGGCCC 1 -- ds50011Minor allele frequency- C:0.00NA 4536
    rs1513120821,2
    --140849468(+) GACAC-/AAGAGAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for RECQL4 (145736667 - 145743229 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RECQL4 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1092376CNV Insertion17803354
    esv1544139CNV Insertion17803354
    dgv907n27CNV Loss19166990
    dgv7966n71CNV Loss21882294
    dgv7977n71CNV Loss21882294
    dgv7976n71CNV Loss21882294
    dgv7978n71CNV Loss21882294
    dgv7983n71CNV Loss21882294
    dgv7982n71CNV Loss21882294
    nsv891911CNV Loss21882294

    Human Gene Mutation Database (HGMD): RECQL4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RECQL4
    DNA2.0 Custom Variant and Variant Library Synthesis for RECQL4

    (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.)
    About This Section

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    OMIM gene information: 603780   
    OMIM disorders: 268400  266280  218600  
    UniProtKB/Swiss-Prot: RECQ4_HUMAN, O94761
  • Rothmund-Thomson syndrome (RTS) [MIM:268400]: Characterized by dermatological features such as atrophy,
    pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone
    defects, disturbances of hair growth, and hypogonadism. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • RAPADILINO syndrome (RAPADILINOS) [MIM:266280]: Disease characterized by radial and patellar aplasia or
    hypoplasia. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Baller-Gerold syndrome (BGS) [MIM:218600]: An autosomal recessive syndrome characterized by short
    stature, craniosynostosis, absent or hypoplastic radii, short and curved ulna, fused carpal bones and absent
    carpals, metacarpals and phalanges. Some patients manifest poikiloderma. Cases reported as Baller-Gerold syndrome
    have phenotypic overlap with several other disorders, including Saethre-Chotzen syndrome. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for RECQL4 (see all 36):    
    About MalaCards
    recql4-related disorders    rothmund-thomson syndrome    rapadilino syndrome    baller-gerold syndrome
    rothmund-thomson syndrome type 2    craniosynostosis - hydrocephalus - chiari i malformation - radioulnar synostosis    radioulnar synostosis    xeroderma pigmentosum, group a
    imperforate anus    poikiloderma with neutropenia    bloom syndrome    werner syndrome
    synostosis    saethre-chotzen syndrome    craniosynostosis    neutropenia
    hydrocephalus    osteosarcoma    xeroderma pigmentosum    cervical cancer

    5 diseases from the University of Copenhagen DISEASES database for RECQL4:
    Rothmund-Thomson syndrome     Rapadilino syndrome     Werner syndrome     Bloom syndrome
    Synostosis

    RECQL4 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for RECQL4 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rothmund-thomson syndrome 98.7 42 12218919 (2), 15960976 (2), 10552928 (2), 19177149 (2) (see all 34)
    rapadilino syndrome 97.7 7 15964893 (2), 15317757 (2), 17250975 (1), 19291770 (1)
    baller-gerold syndrome 93.3 8 19299466 (1), 17250975 (1), 17364146 (1), 15964893 (1) (see all 6)
    bloom syndrome 90.6 10 15702347 (1), 16793396 (1), 17623900 (1), 18719387 (1) (see all 10)
    werner syndrome 89.8 11 15702347 (1), 16271439 (1), 16793396 (1), 16949575 (1) (see all 11)
    small stature 79 1 16630167 (1)
    osteosarcoma 63.1 13 12734318 (4), 15221963 (2), 17264332 (1), 18647888 (1) (see all 8)
    craniosynostosis 60.7 1 19022412 (1)
    genetic disorder 53.6 2 10552928 (1), 11032027 (1)
    growth retardation 52.5 1 15317757 (1)

    GeneTests: RECQL4
    GeneReviews: RECQL4
    Genetic Association Database (GAD): RECQL4
    Human Genome Epidemiology (HuGE) Navigator: RECQL4 (4 documents)

    Export disorders for RECQL4 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

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    PubMed articles for RECQL4 gene, integrated from 10 sources (see all 116):
    (articles sorted by number of sources associating them with RECQL4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of two new human helicase genes of the RecQ family: biological significance of multiple species in higher eukaryotes. (PubMed id 9878247)1, 2, 3, 9 Kitao S.... Shimamoto A. (Genomics 1998)
    2. Rothmund-Thomson syndrome responsible gene, RECQL4: genomic structure and products. (PubMed id 10552928)1, 2, 9 Kitao S.... Shimamoto A. (Genomics 1999)
    3. RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. (PubMed id 15317757)1, 2, 9 Yin J.... Wang W. (Hum. Mol. Genet. 2004)
    4. Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status. (PubMed id 18647888)1, 4, 9 Mehollin-Ray A.R....Wang L.L. (AJR Am J Roentgenol 2008)
    5. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. (PubMed id 12734318)1, 4, 9 Wang L.L....Plon S.E. (J. Natl. Cancer Inst. 2003)
    6. Mutation analysis of the RECQL4 gene in sporadic osteosarcomas. (PubMed id 15221963)1, 2, 9 Nishijo K.... Toguchida J. (Int. J. Cancer 2004)
    7. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. (PubMed id 15964893)1, 2, 9 Van Maldergem L.... Verloes A. (J. Med. Genet. 2006)
    8. Identification of two novel RECQL4exonic SNPs and genomic characterization of the IVS12 minisatellite. (PubMed id 12601557)1, 2, 9 Roversi G.... Larizza L. (J. Hum. Genet. 2003)
    9. Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome. (PubMed id 15960976)1, 3, 9 Sangrithi M.N....Venkitaraman A.R. (Cell 2005)
    10. Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (PubMed id 12952869)1, 2, 9 Siitonen H.A.... Kestilae M. (Hum. Mol. Genet. 2003)

    (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: 9401 HGNC: 9949 AceView: RECQL4 Ensembl:ENSG00000160957 euGenes: HUgn9401
    ECgene: RECQL4 H-InvDB: RECQL4

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for RECQL4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RECQL4 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RECQL4[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/recql4/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RECQL4 gene:
    Search GeneIP for patents involving RECQL4

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



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