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

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)
  7 related diseases
at
MalaCards
 

Aliases
for SLX4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section
Aliases
SLX4 Structure-Specific Endonuclease Subunit1 2     Complementation Group P1
BTBD121 2 3 5     Fanconi Anemia1
BTB (POZ) Domain Containing 121 2     SLX4 Structure-Specific Endonuclease Subunit Homolog (S. Cerevisiae)1
BTB/POZ Domain-Containing Protein 122 3     FANCP2
MUS3122 5     SLX4 Structure-Specific Endonuclease Subunit Homolog2
KIAA17843 5     Structure-Specific Endonuclease Subunit SLX42
KIAA19873 5     

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

Export aliases for SLX4 gene to outside databases


Summaries
for SLX4 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for 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 hereditary breast cancer. 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




Genomic Views
for SLX4 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.2  NT_010393.16  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for SLX4
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLX4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLX4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for SLX4 gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section
UniProtKB/Swiss-Prot: 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
Subcellular location: Nucleus. Note=Localizes to sites of DNA dammage
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8IY92

    • SLX4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLX4 Protein Expression
    REFSEQ proteins: NP_115820.2  
    ENSEMBL proteins: 
     ENSP00000294008  

    Human Recombinant Protein Products 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. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784colocalizes with nuclear chromosome, telomeric region IDA19596235
    GO:0000790colocalizes with nuclear chromatin IDA19596235
    GO:0033557Slx1-Slx4 complex IDA19595721
    GO:0048476colocalizes with Holliday junction resolvase complex IDA19595721
    GO:0070522colocalizes with ERCC4-ERCC1 complex IDA19595721

    SLX4 for ontologies           About GeneDecksing



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

    Assay Products for SLX4: 
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.

    Protein Domains /
    Families
    for SLX4 gene

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

    3 InterPro protein domains:
     IPR011333 BTB/POZ_fold
     IPR013069 BTB_POZ
     IPR000210 BTB/POZ-like

    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


    Function
    for SLX4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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 1 allele) (MGI details for Slx4):
     cardiovascular system  cellular  craniofacial  endocrine/exocrine gland  growth/size 
     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:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SLX4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SLX4

    miRNA
    Products:        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SLX4
    8/9 QIAGEN miScript miRNA 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 plasmid: SLX4 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for SLX4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SLX4
    Sirion Biotech Custom design and validation of potent shRNA sequences against SLX4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SLX4
    Sirion Biotech Customized adenovirus for overexpression of SLX4
                         Customized adenovirus for potent knockdown of SLX4

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for SLX4 (see all 5)
    OriGene ORF clones in mouse, rat for SLX4
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    GenScript: all cDNA clones in your preferred vector: SLX4 (NM_032444)
    Browse Sino Biological Human cDNA Clones
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SLX4

    Cell Line
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    Search LifeMap BioReagents cell lines for SLX4
    Sirion Biotech Customized stable knockdown cell line services for SLX4
                         Customized inducible knockdown cell line services for SLX4

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLX4


    Pathways & Interactions
    for SLX4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLX4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway
    		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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLX4

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

    5/179 Interacting proteins for SLX4 (Q8IY921, 3 ENSP000002940084) via UniProtKB, MINT, STRING, and/or I2D (see all 179)
    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): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000724double-strand break repair via homologous recombination IMP19595721
    GO:0006260DNA replication IEA--
    GO:0006281DNA repair IMP19595722
    GO:0006289nucleotide-excision repair IMP19596236
    GO:0010792DNA double-strand break processing involved in repair via single-strand annealing IMP19595721

    SLX4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLX4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLX4

    Search CenterWatch for drugs/clinical trials and news about SLX4

    Transcripts
    for SLX4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    8/9 QIAGEN miScript miRNA 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 plasmid: SLX4 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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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 

    24/67 AceView cDNA sequences (see all 67):

    AI143664 BC036335 AA406162 BC029952 CD518367 AK122775 AL704311 BI826182 
    AI553979 AA279053 BM907150 BX279969 BF435035 BF513005 AK095411 BM541728 
    BU521908 AB075867 AI380342 AL442083 AA243144 AW629562 AA811576 BG034020 

    GeneLoc Exon Structure


    Expression
    for SLX4 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See SLX4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLX4

    SOURCE GeneReport for Unigene cluster: Hs.143681
        SABiosciences Expression via Pathway-Focused PCR Array including SLX4: 
              Telomeres & Telomerase in human mouse rat

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    In Situ
    Assay Products:     
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    Orthologs
    for SLX4 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for SLX4 gene from 5/12 species (see all 12)    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 71.47(n)1
    61.91(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 58.42(n)
    49.67(a)    		   416665  XM_414962.3  XP_414962.3 
    lizard
    (Anolis carolinensis)    		 Reptilia SLX46
    		 Uncharacterized protein
    		 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 LOC1005381531 structure-specific endonuclease subunit SLX4-like 46.57(n)
    36.86(a)    		   100538153  XM_003201098.1  XP_003201146.1 


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

    Paralogs
    for SLX4 gene

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

    Genomic Variants
    for SLX4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1150 SNPs in SLX4 are shown (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
    ----------
    VAR_0690074
    		----see VAR_0690072 R W mis40--------
    VAR_0689874
    		----see VAR_0689872 H R mis40--------
    VAR_0690164
    		----see VAR_0690162 R C mis40--------
    VAR_0689954
    		----see VAR_0689952 S N mis40--------
    VAR_0689964
    		----see VAR_0689962 V M mis40--------
    VAR_0689974
    		----see VAR_0689972 L P mis40--------
    VAR_0690154
    		----see VAR_0690152 A V mis40--------
    VAR_0689944
    		----see VAR_0689942 A T mis40--------
    VAR_0689914
    		----see VAR_0689912 A V mis40--------
    VAR_0689884
    		----see VAR_0689882 P T mis40--------

    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
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SLX4

    Disorders / Diseases
    for SLX4 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLX4 for disorders           About GeneDecksing

    OMIM gene information: 613278    OMIM disorders: --

    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

    7 diseases for SLX4:    About MalaCards
    slx4-related fanconi anemia    hereditary breast cancer    fanconi's anemia    leukopenia
    familial breast cancer    anemia    breast cancer


    Export disorders for SLX4 gene to outside databases

    Publications
    for SLX4 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLX4 gene, integrated from 9 sources (see all 34) (see top 10):
    (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. (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. (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. (2013)
    4. SLX4, a coordinator of structure-specific endonucleas es, is mutated in a new Fanconi anemia subtype. (PubMed id 21240277)1, 2 Stoepker C....de Winter J.P. (2011)
    5. Mutations of the SLX4 gene in Fanconi anemia. (PubMed id 21240275)1, 2 Kim Y....Smogorzewska A. (2011)
    6. 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. (2009)
    7. 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. (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. (2009)
    9. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)1, 2 Martin J.... Pennacchio L.A. (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. (2001)
    11. Regulation of multiple DNA repair pathways by the Fanc oni anemia protein SLX4. (PubMed id 23093618)1 Kim Y....Smogorzewska A. (2013)
    12. Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast c ancer families. (PubMed id 22401137)1 Fernandez-Rodriguez J....Pujana M.A. (2012)
    13. Proliferating cell nuclear antigen (PCNA)-binding protein C1orf124 is a regulator of translesion synthesis. (PubMed id 22902628)1 Ghosal G.... Chen J. (2012)
    14. Sequencing analysis of SLX4/FANCP gene in Italian fami lial breast cancer cases. (PubMed id 22383991)1 Catucci I....Peterlongo P. (2012)
    15. The nuclease hSNM1B/Apollo is linked to the Fanconi an emia pathway via its interaction with FANCP/SLX4. (PubMed id 22907656)1 Salewsky B....Demuth I. (2012)
    16. Mutation analysis of the SLX4/FANCP gene in hereditary breast cancer. (PubMed id 21805310)1 Landwehr R....Dork T. (2011)
    17. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    18. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    19. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    20. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    21. Comparative proteomic analysis identifies a role for S UMO in protein quality control. (PubMed id 21693764)1 Tatham M.H....Hay R.T. (2011)
    22. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    23. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    24. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    25. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)
    26. Large-scale proteomics analysis of the human kinome. (PubMed id 19369195)2 Oppermann F.S.... Daub H. (2009)
    27. Direct binding of CoREST1 to SUMO-2/3 contributes to gene-specific repression by the LSD1/CoREST1/HDAC complex. (PubMed id 19394292)1 Ouyang J....Gill G. (2009)
    28. Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis. (PubMed id 18220336)2 Cantin G.T....Yates J.R. III (2008)
    29. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    30. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (2007)
    31. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    32. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1 Gerhard D.S....Malek J. (2004)

    External Searches for SLX4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing SLX4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84464 HGNC: 23845 AceView: BTBD12andKIAA1987 Ensembl:ENSG00000188827 euGenes: HUgn84464
    ECgene: SLX4 Kegg: 84464 H-InvDB: SLX4

    Other Databases showing SLX4 gene

    (According to HUGE)
    About This Section
    HUGE: KIAA1987 KIAA1784

    Specialized Databases showing SLX4 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLX4 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLX4 gene

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

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