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ERCC6 Gene

protein-coding   GIFtS: 66
GCID: GC10M050663

Excision Repair Cross-Complementation Group 6

(Previous names: excision repair cross-complementing rodent repair deficiency,...)
(Previous symbol: CKN2)
  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
Excision Repair Cross-Complementation Group 61 2     UVSS12 5
CKN21 2 5     Cockayne Syndrome B Protein1
CSB2 3 5     COFS2
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 61 2
     RAD262
Cockayne Syndrome Protein CSB2 3     Cockayne Syndrome Group B Protein2
ATP-Dependent Helicase ERCC62 3     DNA Excision Repair Protein ERCC-62
ARMD52 5     EC 3.6.4.-3
COFS12 5     EC 3.6.18

External Ids:    HGNC: 34381   Entrez Gene: 20742   Ensembl: ENSG000002258307   OMIM: 6094135   UniProtKB: Q034683   

Export aliases for ERCC6 gene to outside databases

Previous GC identifers: GC10M049571 GC10M050559 GC10M050011 GC10M050336 GC10M044929


(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 ERCC6 Gene:
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded
protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins,
and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne
syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs
between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares
sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544.
(provided by RefSeq, Mar 2013)

GeneCards Summary for ERCC6 Gene:
ERCC6 (excision repair cross-complementation group 6) is a protein-coding gene. Diseases associated with ERCC6 include cerebro-oculo-facio-skeletal syndrome, and cockayne syndrome type ii. GO annotations related to this gene include chromatin binding and protein complex binding. An important paralog of this gene is ERCC6L.

UniProtKB/Swiss-Prot: ERCC6_HUMAN, Q03468
Function: Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA
polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon
DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the
interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex
formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the
at sites of RNA polymerase II-blocking lesions

Gene Wiki entry for ERCC6 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERCC6 gene promoter:
         Sp1   SREBP-1c   POU6F1 (c2)   GATA-1   SREBP-1a   POU2F1   HSF2   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): ERCC6 promoter sequence
   Search Chromatin IP Primers for ERCC6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERCC6


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

Entrez Gene cytogenetic band: 10q11.23   Ensembl cytogenetic band:  10q11.23   HGNC cytogenetic band: 10q11

ERCC6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC6 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M050663:  view genomic region     (about GC identifiers)

Start:
50,663,414 bp from pter      End:
50,747,584 bp from pter
Size:
84,171 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: ERCC6_HUMAN, Q03468 (See protein sequence)
Recommended Name: DNA excision repair protein ERCC-6  
Size: 1493 amino acids; 168416 Da
Subunit: Homodimer. Binds DNA. Interacts with ERCC8. Interacts with a subunit of RNA polymerase II TFIIH.
Component of the B-WICH complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6,
MYBBP1A and DDX21. Interacts with KIAA1530/UVSSA
Secondary accessions: D3DX94 Q5W0L9

Explore the universe of human proteins at neXtProt for ERCC6: NX_Q03468

Explore proteomics data for ERCC6 at MOPED

Post-translational modifications: 

  • Ubiquitinated at the C-terminus. Ubiquitination by the CSA complex leads to ERCC6 proteasomal degradation in a
    UV-dependent manner. Stabilized following interaction with KIAA1530/UVSSA, which promotes recruitment of
    deubiquitinating enzyme USP7, leading to deubiquitination of ERCC6 thereby preventing UV-induced degradation of
    ERCC6 by the proteasome1
  • Ubiquitination2 at Lys1457
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for ERCC6 (Q03468)
     QVTVYRL  GTIEEKI  MGLGKTIQ  DEMGLGKT 


    See ERCC6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000115.1  
    ENSEMBL proteins: 
     ENSP00000348089   ENSP00000422827   ENSP00000445134  
    Reactome Protein details: Q03468

    ERCC6 Human Recombinant Protein Products:

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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ERCC6
    OriGene Protein Over-expression Lysate for ERCC6
    OriGene MassSpec for ERCC6
    OriGene Custom Protein Services for ERCC6
    GenScript Custom Purified and Recombinant Proteins Services for ERCC6
    Novus Biologicals ERCC6 Protein
    Novus Biologicals ERCC6 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ERCC6

    ERCC6 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ERCC6
    OriGene Custom Antibody Services for ERCC6
    Novus Biologicals ERCC6 Antibodies
    Abcam antibodies for ERCC6 (Q03468, Q5W0L9)
    Cloud-Clone Corp. Antibodies for ERCC6
    ThermoFisher Antibody for ERCC6
    LSBio Antibodies in human, mouse, rat for ERCC6

    ERCC6 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ERCC6
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ERCC6
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ERCC6
    Cloud-Clone Corp. CLIAs for ERCC6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    4 InterPro protein domains:
     IPR000330 SNF2_N
     IPR027417 P-loop_NTPase
     IPR014001 Helicase_ATP-bd
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry Q03468

    ProtoNet protein and cluster: Q03468

    1 Blocks protein domain: IPB000330 SNF2 related domain

    UniProtKB/Swiss-Prot: ERCC6_HUMAN, Q03468
    Domain: A C-terminal ubiquitin-binding domain (UBD) is essential for transcription-coupled nucleotide excision
    repair to proceed
    Similarity: Belongs to the SNF2/RAD54 helicase family
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    ERCC6 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: ERCC6_HUMAN, Q03468
    Function: Essential factor involved in transcription-coupled nucleotide excision repair which allows RNA
    polymerase II-blocking lesions to be rapidly removed from the transcribed strand of active genes. Upon
    DNA-binding, it locally modifies DNA conformation by wrapping the DNA around itself, thereby modifying the
    interface between stalled RNA polymerase II and DNA. It is required for transcription-coupled repair complex
    formation. It recruits the CSA complex (DCX(ERCC8) complex), nucleotide excision repair proteins and EP300 to the
    at sites of RNA polymerase II-blocking lesions

         Genatlas biochemistry entry for ERCC6:
    excision repair cross-complementing rodent repair defect in CHO cells,complementation group 6,preferential repair
    of transcribed strand,yeast RAD26 homolog (see CKN2)

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.-1

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IDA12560492
    GO:0003678NOT DNA helicase activity IDA8999876
    GO:0003682chromatin binding IDA16916636
    GO:0004386helicase activity ----
         
    ERCC6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ERCC6:
     Wnt reporter downregulated 

         Selected MGI mutant phenotypes (inferred from 1 allele(MGI details for Ercc6) (see all 16):
     adipose tissue  behavior/neurological  cellular  growth/size/body  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 
     mortality/aging  muscle  nervous system  skeleton  tumorigenesis 

    ERCC6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ercc6tm1Gvh for ERCC6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERCC6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERCC6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERCC6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERCC6

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ERCC6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERCC6 (see all 27):
    hsa-miR-361-5p hsa-miR-125a-5p hsa-let-7d hsa-miR-202 hsa-miR-29c hsa-miR-29a hsa-let-7c hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidERCC6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERCC6
    Predesigned siRNA for gene silencing in human, mouse, rat ERCC6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ERCC6

    Clone
    Products:
         
    OriGene clones in human, mouse for ERCC6 (see all 6)
    OriGene ORF clones in mouse, rat for ERCC6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ERCC6 (NM_000124)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC6

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ERCC6
    Browse ESI BIO Cell Lines and PureStem Progenitors for ERCC6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC6


    (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
    ERCC6_HUMAN, Q03468: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA12560492
    GO:0005654nucleoplasm TAS--
    GO:0005730nucleolus IDA16107709
    GO:0008023transcription elongation factor complex IDA9326587

    ERCC6 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 ERCC6 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Global Genomic NER (GG-NER)
    Nucleotide excision repair0.69
    Nucleotide Excision Repair Pathway0.48
    2DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Dual incision reaction in TC-NER0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    3RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73
    RNA Polymerase I Promoter Clearance0.78
    4RNA Polymerase I Promoter Escape
    RNA Polymerase I Transcription Initiation0.55
    5Gene Expression
    Gene Expression0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ERCC6
        DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway

    3 Reactome Pathways for ERCC6
        Formation of transcription-coupled NER (TC-NER) repair complex
    Dual incision reaction in TC-NER
    RNA Polymerase I Transcription Initiation


    1 Kegg Pathway  (Kegg details for ERCC6):
        Nucleotide excision repair


    ERCC6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC6: 
              Oxidative Stress in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERCC6

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

    Selected Interacting proteins for ERCC6 (Q034681, 2, 3 ENSP000003480894) via UniProtKB, MINT, STRING, and/or I2D (see all 168)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4AP628053, ENSP000003529804I2D: score=1 STRING: ENSP00000352980
    HIST1H4HP628053, ENSP000002893524I2D: score=1 STRING: ENSP00000289352
    HIST1H4FP628053, ENSP000003669744I2D: score=1 STRING: ENSP00000366974
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000303response to superoxide IEA--
    GO:0006200ATP catabolic process IDA12560492
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006284base-excision repair IMP9973627

    ERCC6 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 ERCC6

    7 Novoseek inferred chemical compound relationships for ERCC6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    8-hydroxyguanine 76.2 7 11581270 (2), 12060667 (1), 12665480 (1), 12531019 (1)
    8-oxoguanine 72.1 6 9973627 (2), 17110932 (1), 11809892 (1), 19389114 (1)
    8-hydroxyadenine 68.9 2 12060667 (1), 12665480 (1)
    thymine glycol 59.6 2 17110932 (1)
    atp 24.9 15 19580815 (6), 15548521 (2), 16128801 (1), 9565609 (1) (see all 6)
    glutamate 0 1 10564257 (1)
    h2o2 0 3 12606941 (1), 17626041 (1)



    ERCC6 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ERCC6 gene: 
    NM_000124.3  

    Unigene Cluster for ERCC6:

    Excision repair cross-complementing rodent repair deficiency, complementation group 6
    Hs.49063  [show with all ESTs]
    Unigene Representative Sequence: NM_000124
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355832(uc009xod.3 uc010qgr.2 uc001jhr.4 uc001jhs.4)
    ENST00000465653 ENST00000475116 ENST00000479652 ENST00000462247 ENST00000542458

    miRNA
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    Block miRNA regulation of human, mouse, rat ERCC6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERCC6 (see all 27):
    hsa-miR-361-5p hsa-miR-125a-5p hsa-let-7d hsa-miR-202 hsa-miR-29c hsa-miR-29a hsa-let-7c hsa-miR-519a
    SwitchGear 3'UTR luciferase reporter plasmidERCC6 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ERCC6
    Predesigned siRNA for gene silencing in human, mouse, rat ERCC6
    Clone
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    OriGene clones in human, mouse for ERCC6 (see all 6)
    OriGene ORF clones in mouse, rat for ERCC6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ERCC6 (NM_000124)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC6
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for ERCC6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERCC6
      QuantiTect SYBR Green Assays in human, mouse, rat ERCC6
      QuantiFast Probe-based Assays in human, mouse, rat ERCC6

    Additional mRNA sequence: 

    AK074682.1 AK094670.1 AK130100.1 AK303022.1 AL133084.1 BC028954.1 BC063690.1 BC127104.1 
    CR749388.1 L04791.1 

    9 DOTS entries:

    DT.70103399  DT.401613  DT.75174125  DT.403698  DT.204374  DT.121269973  DT.75170914  DT.91753123 
    DT.95335805 

    Selected AceView cDNA sequences (see all 98):

    AI638391 AA417626 AI150981 AL039860 BI495980 AL133084 NM_000124 AA421758 
    AI246353 AA732050 BX091366 AA765970 Z38185 BQ012752 AW003131 AA305555 
    AA765217 AI261278 AL135499 BF512384 CB111847 Z41882 AI688306 NM_170753 

    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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    ERCC6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGAAGTGTTC
    ERCC6 Expression
    About this image

    ERCC6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERCC6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.49063
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC6: 
              Oxidative Stress in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for ERCC6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERCC6
    QuantiTect SYBR Green Assays in human, mouse, rat ERCC6
    QuantiFast Probe-based Assays in human, mouse, rat ERCC6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC6

    (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 eukaryotes.

    Orthologs for ERCC6 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ercc61 , 5 excision repair cross-complementing rodent repair deficiency, more1, 5 81.9(n)1
    79.31(a)1
      14 (19.40 cM)5
    3199551  NM_001081221.11  NP_001074690.11 
     325135215 
    chicken
    (Gallus gallus)
    Aves ERCC61 excision repair cross-complementing rodent repair deficiency, more 69.96(n)
    68.75(a)
      423785  XM_421656.4  XP_421656.2 
    lizard
    (Anolis carolinensis)
    Reptilia ERCC66
    excision repair cross-complementing rodent repair ...
    60(a)
    1 ↔ 1
    GL343297.1(934287-987945)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.127072 Transcribed sequence with weak similarity to protein more 81.62(n)    BX717700.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ercc61 excision repair cross-complementing rodent repair deficiency, more 65.27(n)
    65.91(a)
      560477  XM_005156946.1  XP_005157003.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD26(YJR035W)4 Protein involved in transcription-coupled nucleotide more   --   10(497355-500612) 853492  NP_012569.1 
    Alicante grape
    (Vitis vinifera)
    eudicotyledons CB349473.22   -- 71.62(n)    CB349473.2 
    rice
    (Oryza sativa)
    Liliopsida Os.248862 Oryza sativa (japonica cultivar-group) cDNA clone0 more 71.03(n)    AB111944.1 


    ENSEMBL Gene Tree for ERCC6 (if available)
    TreeFam Gene Tree for ERCC6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ERCC6 gene
    ERCC6L2  ERCC6L22  
    7 SIMAP similar genes for ERCC6 using alignment to 4 protein entries:     ERCC6_HUMAN (see all proteins):
    ERCC6-PGBD3    HELLS    SMARCA5    ATRX    BTAF1    DKFZp434J1672
    RAD26L

    ERCC6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ERCC6 (see all 1989)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0635124
    Cockayne syndrome B (CSB)4--see VAR_0635122 W C mis40--------
    VAR_0360254
    A breast cancer sample4--see VAR_0360252 E V mis40--------
    VAR_0012214
    Cockayne syndrome B (CSB)4--see VAR_0012212 P L mis40--------
    VAR_0360244
    A breast cancer sample4--see VAR_0360242 E Q mis40--------
    VAR_0012194
    Cockayne syndrome B (CSB)4--see VAR_0012192 W R mis40--------
    VAR_0635114
    Cockayne syndrome B (CSB)4--see VAR_0635112 N D mis40--------
    VAR_0635144
    Cerebro-oculo-facio-skeletal syndrome 1 (COFS1)4--see VAR_0635142 L P mis40--------
    VAR_0012184
    Cockayne syndrome B (CSB)4--see VAR_0012182 R W mis40--------
    VAR_0360224
    A colorectal cancer sample4--see VAR_0360222 R L mis40--------
    VAR_0012204
    Cockayne syndrome B (CSB)4--see VAR_0012202 V G mis40--------

    HapMap Linkage Disequilibrium report for ERCC6 (50663414 - 50747584 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ERCC6 (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2339896CNV Deletion18987734
    esv2736573CNV Deletion23290073
    esv2736585CNV Deletion23290073
    nsv6632CNV Insertion18451855
    nsv895365CNV Loss21882294
    nsv895377CNV Gain21882294
    esv5944CNV Gain19470904
    nsv895375CNV Gain21882294
    nsv831867CNV Gain17160897
    nsv895369CNV Gain21882294

    Human Gene Mutation Database (HGMD): ERCC6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERCC6
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609413   
    OMIM disorders: 133540  214150  278800  613761  600630  211980  
    UniProtKB/Swiss-Prot: ERCC6_HUMAN, Q03468
  • Cockayne syndrome B (CSB) [MIM:133540]: A rare disorder characterized by cutaneous sensitivity to
    sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy
    and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration
    resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome
    type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less
    common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne
    syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients
    with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and
    have no significant increase in skin cancer. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Cerebro-oculo-facio-skeletal syndrome 1 (COFS1) [MIM:214150]: A disorder of prenatal onset characterized
    by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe
    psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that
    include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • De Sanctis-Cacchione syndrome (DSC) [MIM:278800]: An autosomal recessive syndrome consisting of xeroderma
    pigmentosum associated with severe neurological and developmental involvement. In addition to the clinical signs
    of xeroderma pigmentosum, patients present with mental retardation, dwarfism, gonadal hypoplasia, microcephaly
    and various neurologic complications of early onset. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Macular degeneration, age-related, 5 (ARMD5) [MIM:613761]: A form of age-related macular degeneration, a
    multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most
    patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid
    that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch
    membrane. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry
  • UV-sensitive syndrome 1 (UVSS1) [MIM:600630]: An autosomal recessive disorder characterized by cutaneous
    photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ERCC6 (see all 56):    
    About MalaCards
    cerebro-oculo-facio-skeletal syndrome    cockayne syndrome type ii    xeroderma pigmentosum    age-related macular degeneration 5
    ercc6-related cockayne syndrome    uv-sensitive syndrome 1    lung cancer    cockayne syndrome
    uv sensitive syndrome    psammomatous meningioma    baller-gerold syndrome    ossifying fibroma
    tracheal stenosis    age related macular degeneration    transient cerebral ischemia    richter's syndrome
    progeria    pigmentary retinopathy    dwarfism    optic atrophy

    4 diseases from the University of Copenhagen DISEASES database for ERCC6:
    Cockayne syndrome     Ossifying fibroma     Psammomatous meningioma     Baller-Gerold syndrome

    ERCC6 for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for ERCC6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    group b cockayne syndrome 98.9 32 10882116 (2), 12531019 (2), 11452033 (1), 12482989 (1) (see all 23)
    cockayne syndrome 98.4 60 9312053 (3), 17854076 (2), 18183039 (2), 10872452 (2) (see all 40)
    group a cockayne syndrome 94 6 17981804 (1), 19309286 (1), 7664335 (1), 11782547 (1) (see all 6)
    xeroderma pigmentosum 79.6 6 11782547 (1), 12665480 (1), 11104904 (1), 10767341 (1) (see all 5)
    trichothiodystrophy 71.7 1 11104904 (1)
    genetic disorder 71.7 4 8811173 (1), 9880486 (1), 14639525 (1), 19329487 (1)
    neurodegenerative diseases 31.2 1 17055654 (1)
    tumors 3.27 2 8876669 (1)
    cancer 0 11 17854076 (2), 16701013 (1), 10872452 (1), 19221478 (1)

    GeneTests: ERCC6
    GeneReviews: ERCC6
    Genetic Association Database (GAD): ERCC6
    Human Genome Epidemiology (HuGE) Navigator: ERCC6 (50 documents)

    Export disorders for ERCC6 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 ERCC6 gene, integrated from 10 sources (see all 233):
    (articles sorted by number of sources associating them with ERCC6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-Cacchione variant of xeroderma pigmentosum. (PubMed id 10767341)1, 2, 4, 9 Colella S.... Stefanini M. (Hum. Mol. Genet. 2000)
    2. Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. (PubMed id 16754848)1, 2, 4 Tuo J.... Chan C.-C. (Proc. Natl. Acad. Sci. U.S.A. 2006)
    3. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. (PubMed id 1339317)1, 2, 3 Troelstra C....Hoeijmakers J.H.J. (Cell 1992)
    4. The Cockayne syndrome group B protein is a functional dimer. (PubMed id 16128801)1, 2, 9 Christiansen M.... Stevnsner T. (FEBS J. 2005)
    5. The CSB protein actively wraps DNA. (PubMed id 15548521)1, 2, 9 Beerens N.... Wyman C. (J. Biol. Chem. 2005)
    6. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. (PubMed id 9443879)1, 2, 9 Mallery D.L.... Lehmann A.R. (Am. J. Hum. Genet. 1998)
    7. A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer. (PubMed id 17854076)1, 4, 9 Lin Z....Ning B. (Hum. Mutat. 2008)
    8. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. (PubMed id 15486090)1, 2, 9 Horibata K.... Tanaka K. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    9. ERCC6/CSB gene polymorphisms and lung cancer risk. (PubMed id 18789574)1, 4, 9 Ma H....Shen H. (Cancer Lett. 2009)
    10. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. (PubMed id 16916636)1, 2, 9 Fousteri M.... Mullenders L.H. (Mol. Cell 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2074 HGNC: 3438 AceView: ERCC6 Ensembl:ENSG00000225830 euGenes: HUgn2074
    ECgene: ERCC6 Kegg: 2074 H-InvDB: ERCC6

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ERCC6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERCC6 Genetics and Cytogenetics in Oncology and Haematology
    Allelic variations of the XP geneshttp://www.xpmutations.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ERCC6[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ercc6/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ERCC6 gene:
    Search GeneIP for patents involving ERCC6

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



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