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SLX4 Gene

protein-coding   GIFtS: 49
GCID: GC16M003632

SLX4 Structure-Specific Endonuclease Subunit

(Previous names: BTB (POZ) domain containing 12, SLX4 structure-specific...)
(Previous symbol: BTBD12)
  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
SLX4 Structure-Specific Endonuclease Subunit1 2     KIAA19873 5
BTBD121 2 3 5     Complementation Group P1
BTB (POZ) Domain Containing 121 2     Fanconi Anemia1
BTB/POZ Domain-Containing Protein 122 3     SLX4 Structure-Specific Endonuclease Subunit Homolog (S. Cerevisiae)1
FANCP2 5     SLX4 Structure-Specific Endonuclease Subunit Homolog2
MUS3122 5     Structure-Specific Endonuclease Subunit SLX42
KIAA17843 5     

External Ids:    HGNC: 238451   Entrez Gene: 844642   Ensembl: ENSG000001888277   OMIM: 6132785   UniProtKB: Q8IY923   

Export aliases for SLX4 gene to outside databases


(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 SLX4 Gene:
This gene encodes a structure-specific endonuclease subunit. The encoded protein contains a central BTB domain and
it forms a multiprotein complex with the ERCC4(XPF)-ERCC1, MUS81-EME1, and SLX1 endonucleases, and also
associates with MSH2/MSH3 mismatch repair complex, telomere binding complex TERF2(TRF2)-TERF2IP(RAP1), the
protein kinase PLK1 and the uncharacterized protein C20orf94. The multiprotein complex is required for repair of
specific types of DNA lesions and is critical for cellular responses to replication fork failure. The encoded
protein acts as a docking platform for the assembly of multiple structure-specific endonucleases.(provided by
RefSeq, Jan 2011)

GeneCards Summary for SLX4 Gene:
SLX4 (SLX4 structure-specific endonuclease subunit) is a protein-coding gene. Diseases associated with SLX4 include slx4-related fanconi anemia, and fanconi anemia, complementation group p. GO annotations related to this gene include enzyme activator activity and crossover junction endodeoxyribonuclease activity.

UniProtKB/Swiss-Prot: SLX4_HUMAN, Q8IY92
Function: Regulatory subunit that interacts with and increases the activity of different structure-specific
endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of
deleterious DNA structures originating from replication and recombination intermediates and from DNA damage.
Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated
during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing
single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and
promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two
pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and
promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and
promotes the cleavage of 3'-flap and replication fork-like structures. SLX4 is required for recovery from
alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks




(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_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for SLX4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLX4 promoter sequence
   Search Chromatin IP Primers for SLX4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLX4


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

SLX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLX4 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M003632:  view genomic region     (about GC identifiers)

Start:
3,631,182 bp from pter      End:
3,661,599 bp from pter
Size:
30,418 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: SLX4_HUMAN, Q8IY92 (See protein sequence)
Recommended Name: Structure-specific endonuclease subunit SLX4  
Size: 1834 amino acids; 200012 Da
Subunit: Forms a heterodimer with SLX1A/GIYD1. Interacts with ERCC4; catalytic subunit of the ERCC4-ERCC1
endonuclease. Interacts with MUS81; catalytic subunit of the MUS81-EME1 endonuclease. Interacts with MSH2;
component of the MSH2-MSH3 mismatch repair complex. Interacts with TERF2-TERF2IP. Interacts with PLK1 and SLX4IP
1 PDB 3D structure from and Proteopedia for SLX4:
4M7C (3D)    
Secondary accessions: Q69YT8 Q8TF15 Q96JP1
Alternative splicing: 2 isoforms:  Q8IY92-1   Q8IY92-2   

Explore the universe of human proteins at neXtProt for SLX4: NX_Q8IY92

Explore proteomics data for SLX4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SLX4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115820.2  
    ENSEMBL proteins: 
     ENSP00000294008  

    SLX4 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    OriGene Custom Protein Services for SLX4
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    Novus Biologicals SLX4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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    Novus Biologicals SLX4 Antibodies
    Abcam antibodies for SLX4
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    LSBio Antibodies in human, mouse, rat for SLX4

    SLX4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SLX4
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BTBD: BTB/POZ domain containing
    FANC: Fanconi anemia, complementation groups

    4 InterPro protein domains:
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR018574 Structure-sp_endonuc_su_Slx4
     IPR013069 BTB_POZ

    Graphical View of Domain Structure for InterPro Entry Q8IY92

    ProtoNet protein and cluster: Q8IY92

    1 Blocks protein domain: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: SLX4_HUMAN, Q8IY92
    Similarity: Belongs to the SLX4 family
    Similarity: Contains 1 BTB (POZ) domain


    SLX4 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: SLX4_HUMAN, Q8IY92
    Function: Regulatory subunit that interacts with and increases the activity of different structure-specific
    endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of
    deleterious DNA structures originating from replication and recombination intermediates and from DNA damage.
    Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated
    during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing
    single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5'-flap structures, and
    promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two
    pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and
    promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and
    promotes the cleavage of 3'-flap and replication fork-like structures. SLX4 is required for recovery from
    alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI19595721
    GO:0008047enzyme activator activity IDA19596235
    GO:0008821contributes to crossover junction endodeoxyribonuclease activity IDA19595721
    GO:0017108contributes to 5'-flap endonuclease activity IDA19595721
    GO:0048257contributes to 3'-flap endonuclease activity IDA19595721
         
    SLX4 for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for SLX4:
     Actin fiber cells  Increased G1 DNA content  Increased cell number in S and 

         14 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Slx4):
     cardiovascular system  cellular  craniofacial  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  mortality/aging 
     nervous system  reproductive system  skeleton  vision/eye 

    SLX4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Slx4tm1Jrou for SLX4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLX4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SLX4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLX4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLX4

    miRNA
    Products:
        
    miRTarBase miRNAs that target SLX4:
    hsa-mir-32-5p (MIRT028283), hsa-mir-340-5p (MIRT019533), hsa-mir-744-5p (MIRT037462)

    Block miRNA regulation of human, mouse, rat SLX4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLX4 (see all 9):
    hsa-miR-3163 hsa-miR-137 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-513b hsa-miR-363
    SwitchGear 3'UTR luciferase reporter plasmidSLX4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SLX4
    Predesigned siRNA for gene silencing in human, mouse, rat SLX4

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SLX4

    Clone
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    OriGene clones in human, mouse for SLX4 (see all 5)
    OriGene ORF clones in mouse, rat for SLX4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SLX4 (NM_032444)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLX4
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SLX4

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SLX4
    Browse ESI BIO Cell Lines and PureStem Progenitors for SLX4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLX4


    (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
    SLX4_HUMAN, Q8IY92: Nucleus. Note=Localizes to sites of DNA dammage

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784colocalizes with nuclear chromosome, telomeric region IDA19596235
    GO:0000790colocalizes with nuclear chromatin IDA19596235
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--

    SLX4 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 SLX4 About    
    See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for SLX4):
        Fanconi anemia pathway


    SLX4 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including SLX4: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SLX4

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

    Selected Interacting proteins for SLX4 (Q8IY921, 3 ENSP000002940084) via UniProtKB, MINT, STRING, and/or I2D (see all 181)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MUS81Q96NY91, 3, ENSP000003078534EBI-2370740,EBI-2370806 I2D: score=3 STRING: ENSP00000307853
    MSH2P432461, 3, ENSP000002331464EBI-2370740,EBI-355888 I2D: score=2 STRING: ENSP00000233146
    SLX4IPQ5VYV71, 3, ENSP000003355574EBI-2370740,EBI-2370881 I2D: score=2 STRING: ENSP00000335557
    TERF2Q155541, 3, ENSP000002549424EBI-2370740,EBI-706637 I2D: score=2 STRING: ENSP00000254942
    ENSG00000232960P678703, ENSP000003955464I2D: score=1 STRING: ENSP00000395546
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IMP19595721
    GO:0000737DNA catabolic process, endonucleolytic IDA19595721
    GO:0006260DNA replication IEA--
    GO:0006281DNA repair IMP19595722
    GO:0006289nucleotide-excision repair IMP19596236

    SLX4 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 SLX4



    (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 SLX4 gene: 
    NM_032444.2  

    Unigene Cluster for SLX4:

    SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)
    Hs.143681  [show with all ESTs]
    Unigene Representative Sequence: NM_032444
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000294008(uc002cvp.2) ENST00000466154 ENST00000486524(uc002cvq.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SLX4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLX4 (see all 9):
    hsa-miR-3163 hsa-miR-137 hsa-miR-92a hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-513b hsa-miR-363
    SwitchGear 3'UTR luciferase reporter plasmidSLX4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat SLX4
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SLX4 (NM_032444)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SLX4
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SLX4
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLX4
      QuantiTect SYBR Green Assays in human, mouse, rat SLX4
      QuantiFast Probe-based Assays in human, mouse, rat SLX4

    Additional mRNA sequence: 

    AK095411.1 AK122775.1 AL442083.1 BC029952.1 BC036335.1 BC104222.2 BC104223.2 BC112989.1 
    BC112990.1 

    5 DOTS entries:

    DT.95366775  DT.434494  DT.100778016  DT.91913738  DT.75191051 

    Selected AceView cDNA sequences (see all 67):

    BF435035 BC029952 AK122775 BM541728 CD518367 BX279969 BI826182 BM907150 
    AI143664 AA406162 BC036335 AL442083 AI380342 AB075867 BF513005 AA279053 
    BU521908 AK095411 AL704311 AI553979 BE887716 AA631943 AA811576 BQ883421 

    GeneLoc Exon Structure


    (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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    SLX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCACTAGCG
    SLX4 Expression
    About this image

    SLX4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLX4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.143681
        Pathway & Disease-focused RT2 Profiler PCR Array including SLX4: 
              Telomeres & Telomerase in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SLX4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SLX4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLX4

    (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 chordates.

    Orthologs for SLX4 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slx41 , 5 SLX4 structure-specific endonuclease subunit homolog more1, 5 70.59(n)1
    60.89(a)1
      16 (2.34 cM)5
    528641  NM_177472.41  NP_803423.21 
     39791055 
    chicken
    (Gallus gallus)
    Aves SLX41 SLX4 structure-specific endonuclease subunit homolog more 52.58(n)
    42.13(a)
      416665  XM_414962.4  XP_414962.4 
    lizard
    (Anolis carolinensis)
    Reptilia SLX46
    SLX4 structure-specific endonuclease subunit
    52(a)
    1 ↔ 1
    GL343507.1(510934-511176)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.162842 Transcribed sequences 73.91(n)    BX703142.1 
    zebrafish
    (Danio rerio)
    Actinopterygii SLX4 (2 of 2)6
    slx46
    SLX4 structure-specific endonuclease subunit
    SLX4 structure-specific endonuclease subunit homol...
    42(a)
    26(a)
    many → 1
    many → 1
    22(27426300-27428319) ENSDARG00000092927
    22(27421884-27441486) ENSDARG00000061414


    ENSEMBL Gene Tree for SLX4 (if available)
    TreeFam Gene Tree for SLX4 (if available)

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

    (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 SLX4 (see all 1150)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2010367671,2
    C--3568237(+) CCCTGC/TGGGTG 2 H R mis10--------
    rs2004738111,2
    --3568242(+) CGGGTA/GGCGGC 2 A syn10--------
    rs2016870451,2
    --3568290(+) AACAGC/GCTGCG 2 S R mis10--------
    rs1438188241,2
    C,F--3568397(+) GGAGCG/AGATGT 2 /R /C mis12Minor allele frequency- A:0.01NA EU 5659
    rs1447760831,2
    C,F--3568419(+) GCCTCG/ATCTGT 2 /D syn12Minor allele frequency- A:0.00NA EU 5705
    rs2012140171,2
    --3568439(+) CTGCAC/TGGCTG 2 M V mis10--------
    rs1998386701,2
    C--3568490(+) TGCAGA/GCTCAA 2 P S mis10--------
    rs1835104031,2
    C--3568559(+) AACCCC/GTTTCT 1 -- int10--------
    rs767176161,2
    C,F--3568576(+) CCCCTG/CAGACC 1 -- int11Minor allele frequency- C:0.05WA 118
    rs1449387221,2
    C--3568597(+) TTAAA-/GGAAGG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SLX4 (3631182 - 3661599 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for SLX4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv905213CNV Loss21882294
    nsv833128CNV Loss17160897
    nsv517451CNV Loss19592680
    nsv905216CNV Loss21882294
    nsv518509CNV Gain19592680

    Human Gene Mutation Database (HGMD): SLX4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLX4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLX4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613278   
    OMIM disorders: 613951  
    UniProtKB/Swiss-Prot: SLX4_HUMAN, Q8IY92
  • Fanconi anemia complementation group P (FANCP) [MIM:613951]: A disorder affecting all bone marrow
    elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb
    malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the
    cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased
    chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation
    group P have skeletal anomalies. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 9 diseases for SLX4:    
    About MalaCards
    slx4-related fanconi anemia    fanconi anemia, complementation group p    fanconi anemia, complementation group c    fanconi's anemia
    familial breast cancer    leukopenia    breast cancer    multiple myeloma
    myeloma


    SLX4 for disorders           About GeneDecksing


    Export disorders for SLX4 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 SLX4 gene, integrated from 10 sources (see all 37):
    (articles sorted by number of sources associating them with SLX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. (PubMed id 19595721)1, 2, 3 Munoz I.M.... Rouse J. (Mol. Cell 2009)
    2. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11347906)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2001)
    3. Analysis of the novel Fanconi anemia gene SLX4/FANCP in familial breast cancer cases. (PubMed id 22911665)1, 2 Bakker J.L.... Waisfisz Q. (Hum. Mutat. 2013)
    4. SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. (PubMed id 21240277)1, 2 Stoepker C....de Winter J.P. (Nat. Genet. 2011)
    5. Mutations of the SLX4 gene in Fanconi anemia. (PubMed id 21240275)1, 2 Kim Y....Smogorzewska A. (Nat. Genet. 2011)
    6. Mammalian BTBD12/SLX4 assembles a Holliday junction resolvase and is required for DNA repair. (PubMed id 19596235)1, 2 Svendsen J.M.... Harper J.W. (Cell 2009)
    7. Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. (PubMed id 19596236)1, 2 Fekairi S.... Gaillard P.-H.L. (Cell 2009)
    8. Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination. (PubMed id 19595722)1, 2 Andersen S.L....Sekelsky J. (Mol. Cell 2009)
    9. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (Nature 2004)
    10. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 84464 HGNC: 23845 AceView: BTBD12andKIAA1987 Ensembl:ENSG00000188827 euGenes: HUgn84464
    ECgene: SLX4 Kegg: 84464 H-InvDB: SLX4

    (According to HUGE)
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    HUGE: KIAA1987 KIAA1784

    (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 SLX4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLX4 gene:
    Search GeneIP for patents involving SLX4

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



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