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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:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for SLX4
    GenScript Custom Purified and Recombinant Proteins Services for SLX4
    Novus Biologicals SLX4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    SLX4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SLX4
    Novus Biologicals SLX4 Antibodies
    Abcam antibodies for SLX4
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for SLX4
    LSBio Antibodies in human, mouse, rat for SLX4

    SLX4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SLX4
    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
    Products:
         
    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) (see top 5)
    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
    CSNK2BP678703I2D: score=1 
    ENSG00000206406P678703I2D: score=1 
    ENSG00000224398P678703I2D: score=1 
    ENSG00000224774P678703I2D: score=1 
    ENSG00000228875P678703I2D: score=1 
    ENSG00000230700P678703I2D: score=1 
    ENSG00000137197Q155173, ENSP000002597264I2D: score=1 STRING: ENSP00000259726
    ENSG00000226589P266403, ENSP000004033594I2D: score=1 STRING: ENSP00000403359
    CDSNQ155173I2D: score=1 
    ENSG00000096171P266403I2D: score=1 
    ENSG00000224264P266403I2D: score=1 
    ENSG00000231116P266403I2D: score=1 
    ENSG00000237114Q155173I2D: score=1 
    ENSG00000237123Q155173I2D: score=1 
    ENSG00000237165Q155173I2D: score=1 
    VARSP266403I2D: score=1 
    SLX1BQ9BQ831, 3, ENSP000003289404EBI-2370740,EBI-2370858 I2D: score=3 STRING: ENSP00000328940
    SLX1AQ9BQ831, 3, ENSP000002513034EBI-2370740,EBI-2370858 I2D: score=3 STRING: ENSP00000251303
    EME1Q96AY21, 3, ENSP000003398974EBI-2370740,EBI-2370825 I2D: score=2 STRING: ENSP00000339897
    ERCC1P079921, 3, ENSP000000138074EBI-2370740,EBI-750962 I2D: score=2 STRING: ENSP00000013807
    ERCC4Q928891, 3, ENSP000003105204EBI-2370740,EBI-2370770 I2D: score=3 STRING: ENSP00000310520
    PLK1P533501, 3, ENSP000003000934EBI-2370740,EBI-476768 I2D: score=2 STRING: ENSP00000300093
    TERF2IPQ9NYB01, 3, ENSP000003000864EBI-2370740,EBI-750109 I2D: score=2 STRING: ENSP00000300086
    DCAF10Q5QP823, ENSP000003669534I2D: score=2 STRING: ENSP00000366953
    GID8Q9NWU23, ENSP000002660694I2D: score=2 STRING: ENSP00000266069
    GLTSCR2Q9NZM53, ENSP000002468024I2D: score=2 STRING: ENSP00000246802
    LRRC1Q9BTT63, ENSP000003599254I2D: score=2 STRING: ENSP00000359925
    NUP188Q5SRE53, ENSP000003616584I2D: score=2 STRING: ENSP00000361658
    PGAM5Q96HS13, ENSP000003215034I2D: score=2 STRING: ENSP00000321503
    PSMB4P280703, ENSP000002905414I2D: score=2 STRING: ENSP00000290541
    AASDHPPTQ9NRN73, ENSP000002786184I2D: score=1 STRING: ENSP00000278618
    AHCYL2Q96HN23, ENSP000003159314I2D: score=1 STRING: ENSP00000315931
    ALKBH2Q6NS383, ENSP000003430214I2D: score=1 STRING: ENSP00000343021
    ATG7O953523, ENSP000003464374I2D: score=1 STRING: ENSP00000346437
    CALML5Q9NZT13, ENSP000003696894I2D: score=1 STRING: ENSP00000369689
    CHEK1O147573, ENSP000002789164I2D: score=1 STRING: ENSP00000278916
    COPG1Q9Y6783, ENSP000003250024I2D: score=1 STRING: ENSP00000325002
    CTTNQ142473, ENSP000003018434I2D: score=1 STRING: ENSP00000301843
    DDX39AO001483, ENSP000002427764I2D: score=1 STRING: ENSP00000242776
    DMWDQ090193, ENSP000002702234I2D: score=1 STRING: ENSP00000270223
    DNAJB6O751903, ENSP000002621774I2D: score=1 STRING: ENSP00000262177
    F7P087093, ENSP000003647314I2D: score=1 STRING: ENSP00000364731
    GFM1Q96RP93, ENSP000004190384I2D: score=1 STRING: ENSP00000419038
    GYS1P138073, ENSP000003179044I2D: score=1 STRING: ENSP00000317904
    HPP007383, ENSP000003481704I2D: score=1 STRING: ENSP00000348170
    IGLC1P0CG043, ENSP000003748554I2D: score=1 STRING: ENSP00000374855
    KEAP1Q141453, ENSP000001711114I2D: score=1 STRING: ENSP00000171111
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=1 STRING: ENSP00000364847
    MEPCEQ7L2J03, ENSP000003085464I2D: score=1 STRING: ENSP00000308546
    MKLN1Q9UL633, ENSP000003235274I2D: score=1 STRING: ENSP00000323527
    MRPL15Q9P0153, ENSP000002601024I2D: score=1 STRING: ENSP00000260102
    MRPL44Q9H9J23, ENSP000002583834I2D: score=1 STRING: ENSP00000258383
    MRPS16Q9Y3D33, ENSP000003620364I2D: score=1 STRING: ENSP00000362036
    MRPS21P829213, ENSP000003123954I2D: score=1 STRING: ENSP00000312395
    NMD3Q96D463, ENSP000003075254I2D: score=1 STRING: ENSP00000307525
    PARK7Q994973, ENSP000003402784I2D: score=1 STRING: ENSP00000340278
    PLS3P137973, ENSP000003481634I2D: score=1 STRING: ENSP00000348163
    POLR2GP624873, ENSP000003017884I2D: score=1 STRING: ENSP00000301788
    PPM1GO153553, ENSP000002647144I2D: score=1 STRING: ENSP00000264714
    PPP2R3AQ061903, ENSP000002649774I2D: score=1 STRING: ENSP00000264977
    PRPF31Q8WWY33, ENSP000003241224I2D: score=1 STRING: ENSP00000324122
    RANP628263, ENSP000003961274I2D: score=1 STRING: ENSP00000396127
    RANBP9Q96S593, ENSP000000116194I2D: score=1 STRING: ENSP00000011619
    S100A8P051093, ENSP000003577214I2D: score=1 STRING: ENSP00000357721
    SERPINA1P010093, ENSP000003480684I2D: score=1 STRING: ENSP00000348068
    SERPINB4P485943, ENSP000003434454I2D: score=1 STRING: ENSP00000343445
    SERPINB5P369523, ENSP000003722214I2D: score=1 STRING: ENSP00000372221
    SLC25A1P530073, ENSP000002158824I2D: score=1 STRING: ENSP00000215882
    SLC5A3P537943, ENSP000003705434I2D: score=1 STRING: ENSP00000370543
    SQSTM1Q135013, ENSP000003744554I2D: score=1 STRING: ENSP00000374455
    TBC1D4O603433, ENSP000003668634I2D: score=1 STRING: ENSP00000366863
    TIMM44O436153, ENSP000002705384I2D: score=1 STRING: ENSP00000270538
    TTLL12Q141663, ENSP000002161294I2D: score=1 STRING: ENSP00000216129
    UBA5Q9GZZ93, ENSP000003485654I2D: score=1 STRING: ENSP00000348565
    UBE2OQ9C0C93, ENSP000003236874I2D: score=1 STRING: ENSP00000323687
    UBR5O950713, ENSP000002209594I2D: score=1 STRING: ENSP00000220959
    USMG5Q96IX53, ENSP000003112454I2D: score=1 STRING: ENSP00000311245
    ZNF282Q9UDV73, ENSP000002620854I2D: score=1 STRING: ENSP00000262085
    ZYXQ159423, ENSP000003244224I2D: score=1 STRING: ENSP00000324422
    SUMO2P619563, ENSP000004059654I2D: score=1 STRING: ENSP00000405965
    AHCYL1O438653, ENSP000003588144I2D: score=1 STRING: ENSP00000358814
    AKAP11Q9UKA43, ENSP000000253014I2D: score=1 STRING: ENSP00000025301
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    ANKRD17O751793, ENSP000003514164I2D: score=1 STRING: ENSP00000351416
    AP3M1Q9Y2T23, ENSP000003474084I2D: score=1 STRING: ENSP00000347408
    ASPRV1Q53RT33, ENSP000003153834I2D: score=1 STRING: ENSP00000315383
    ATP5OP480473, ENSP000002902994I2D: score=1 STRING: ENSP00000290299
    BAG5Q9UL153, ENSP000003388144I2D: score=1 STRING: ENSP00000338814
    C11orf58O001933, ENSP000002281364I2D: score=1 STRING: ENSP00000228136
    CALML3P274823, ENSP000003152994I2D: score=1 STRING: ENSP00000315299
    CNN3Q154173, ENSP000003592254I2D: score=1 STRING: ENSP00000359225
    CSNK2A1P684003, ENSP000002172444I2D: score=1 STRING: ENSP00000217244
    DDX24Q9GZR73, ENSP000003286904I2D: score=1 STRING: ENSP00000328690
    DEPDC7Q96QD53, ENSP000002410514I2D: score=1 STRING: ENSP00000241051
    DNAJC9Q8WXX53, ENSP000003620414I2D: score=1 STRING: ENSP00000362041
    DSC1Q085543, ENSP000002571984I2D: score=1 STRING: ENSP00000257198
    EPB41L3Q9Y2J23, ENSP000003411384I2D: score=1 STRING: ENSP00000341138
    FABP5Q014693, ENSP000002972584I2D: score=1 STRING: ENSP00000297258
    FAM192AQ9GZU83, ENSP000003358084I2D: score=1 STRING: ENSP00000335808
    FARSBQ9NSD93, ENSP000002818284I2D: score=1 STRING: ENSP00000281828
    FLGP209303, ENSP000003577894I2D: score=1 STRING: ENSP00000357789
    FLNAP213333, ENSP000003588664I2D: score=1 STRING: ENSP00000358866
    FTOQ9C0B13, ENSP000004188234I2D: score=1 STRING: ENSP00000418823
    GFM2Q969S93, ENSP000002968054I2D: score=1 STRING: ENSP00000296805
    GNPATO152283, ENSP000003556074I2D: score=1 STRING: ENSP00000355607
    GPATCH4Q5T3I03, ENSP000003964414I2D: score=1 STRING: ENSP00000396441
    GPHNQ9NQX33, ENSP000003030194I2D: score=1 STRING: ENSP00000303019
    GPN3Q9UHW53, ENSP000002288274I2D: score=1 STRING: ENSP00000228827
    HCFC1P516103, ENSP000003095554I2D: score=1 STRING: ENSP00000309555
    HOXB9P174823, ENSP000003094394I2D: score=1 STRING: ENSP00000309439
    HOXC9P312743, ENSP000003028364I2D: score=1 STRING: ENSP00000302836
    HSPB1P047923, ENSP000002485534I2D: score=1 STRING: ENSP00000248553
    ICT1Q141973, ENSP000003015854I2D: score=1 STRING: ENSP00000301585
    IGHA1P018763, ENSP000003749894I2D: score=1 STRING: ENSP00000374989
    IGKV1-5P016023, ENSP000004204364I2D: score=1 STRING: ENSP00000420436
    IPO7O953733, ENSP000003690424I2D: score=1 STRING: ENSP00000369042
    KPNA1P522943, ENSP000003437014I2D: score=2 STRING: ENSP00000343701
    KPNA3O005053, ENSP000002616674I2D: score=1 STRING: ENSP00000261667
    KPNA4O006293, ENSP000003343734I2D: score=1 STRING: ENSP00000334373
    KRT4P190133, ENSP000002937744I2D: score=1 STRING: ENSP00000293774
    LARP7Q4G0J33, ENSP000003143114I2D: score=1 STRING: ENSP00000314311
    MRPL41Q8IXM33, ENSP000003604984I2D: score=1 STRING: ENSP00000360498
    MRPL9Q9BYD23, ENSP000003578234I2D: score=1 STRING: ENSP00000357823
    MRPS11P829123, ENSP000003173764I2D: score=1 STRING: ENSP00000317376
    MRPS31Q926653, ENSP000003153974I2D: score=1 STRING: ENSP00000315397
    MSH3P205853, ENSP000002650814I2D: score=2 STRING: ENSP00000265081
    MYH11P357493, ENSP000003796164I2D: score=1 STRING: ENSP00000379616
    MYO1CO001593, ENSP000003528344I2D: score=1 STRING: ENSP00000352834
    NRD1O438473, ENSP000003468904I2D: score=1 STRING: ENSP00000346890
    NUP153P497903, ENSP000002620774I2D: score=1 STRING: ENSP00000262077
    NUP155O756943, ENSP000002314984I2D: score=1 STRING: ENSP00000231498
    NUP50Q9UKX73, ENSP000003458954I2D: score=2 STRING: ENSP00000345895
    NUP93Q8N1F73, ENSP000003106684I2D: score=1 STRING: ENSP00000310668
    PARP1P098743, ENSP000003557594I2D: score=1 STRING: ENSP00000355759
    PDCD2LQ9BRP13, ENSP000002465354I2D: score=1 STRING: ENSP00000246535
    PEX5P505423, ENSP000004074014I2D: score=1 STRING: ENSP00000407401
    PIN1Q135263, ENSP000002479704I2D: score=1 STRING: ENSP00000247970
    PPP2R2CQ9Y2T43, ENSP000003350834I2D: score=1 STRING: ENSP00000335083
    PRKCIP417433, ENSP000002957974I2D: score=1 STRING: ENSP00000295797
    RAD54L2Q9Y4B43, ENSP000003865204I2D: score=1 STRING: ENSP00000386520
    RANGAP1P460603, ENSP000003485774I2D: score=1 STRING: ENSP00000348577
    RNF138Q8WVD33, ENSP000002615934I2D: score=1 STRING: ENSP00000261593
    RNH1P134893, ENSP000003464024I2D: score=1 STRING: ENSP00000346402
    RRBP1Q9P2E93, ENSP000003540454I2D: score=1 STRING: ENSP00000354045
    SART1O432903, ENSP000003104484I2D: score=1 STRING: ENSP00000310448
    SCRIBQ141603, ENSP000003494864I2D: score=1 STRING: ENSP00000349486
    SDE2Q6IQ493, ENSP000002720914I2D: score=1 STRING: ENSP00000272091
    SEH1LQ96EE33, ENSP000003827794I2D: score=1 STRING: ENSP00000382779
    SLC25A13Q9UJS03, ENSP000002656314I2D: score=1 STRING: ENSP00000265631
    SRPXP785393, ENSP000003677944I2D: score=1 STRING: ENSP00000367794
    TCOF1Q134283, ENSP000004068884I2D: score=1 STRING: ENSP00000406888
    TEX10Q9NXF13, ENSP000003640374I2D: score=2 STRING: ENSP00000364037
    TFP027873, ENSP000002649984I2D: score=1 STRING: ENSP00000264998
    TGM3Q081883, ENSP000003708674I2D: score=1 STRING: ENSP00000370867
    TIPRLO756633, ENSP000003568074I2D: score=1 STRING: ENSP00000356807
    TK1P041833, ENSP000003016344I2D: score=1 STRING: ENSP00000301634
    TSPYL1Q9H0U93, ENSP000003575974I2D: score=2 STRING: ENSP00000357597
    PNMA2Q9UL423I2D: score=2 
    UBE2IP632793I2D: score=2 
    CAND1Q86VP63I2D: score=1 
    CWC15Q9P0133I2D: score=1 
    IGHMP018713I2D: score=1 
    MICU1Q9BPX63I2D: score=1 
    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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    (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
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    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

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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)
    About This Section

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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)
    About This Section

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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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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