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

ERCC8 Gene

protein-coding   GIFtS: 63
GCID: GC05M060169

excision repair cross-complementing rodent repair deficiency,...

(Previous name: Cockayne syndrome 1 (classical) )
(Previous symbol: CKN1)
 Explore 18 diseases affiliated with
ERCC8 via our new
 Human Malady Compendium 
Biological research products
for ERCC8
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 81 2
     Cockayne Syndrome 1 (Classical)1
CKN11 2 3 5     UVSS22
CSA1 2 3 5     Cockayne Syndrome WD-Repeat Protein CSA2
Cockayne Syndrome WD Repeat Protein CSA2 3     DNA Excision Repair Protein ERCC-82

External Ids:    HGNC: 34391   Entrez Gene: 11612   Ensembl: ENSG000000491677   OMIM: 6094125   UniProtKB: Q132163   

Export aliases for ERCC8 gene to outside databases

Previous GC identifers: GC00U990095 GC05M060206 GC05M057127


(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 ERCC8:
This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44
protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in
patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation
and are defective in the repair of transcriptionally active genes. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216
Function: Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase
complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes
the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is
essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of
XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions
from the transcribed strand of active genes

Gene Wiki entry for ERCC8


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006713.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ERCC8 gene promoter:
         TBP   Sox5   AML1a   Nkx2-2   NF-YC   XBP-1   Evi-1   HEN1   AREB6   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERCC8 promoter sequence
   Search SABiosciences Chromatin IP Primers for ERCC8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERCC8


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

Entrez Gene cytogenetic band: 5q12.1   Ensembl cytogenetic band:  5q12.1   HGNC cytogenetic band: 5q12.1

ERCC8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC8 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M060169:  view genomic region     (about GC identifiers)

Start:
60,169,658 bp from pter      End:
60,240,905 bp from pter
Size:
71,248 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216 (See protein sequence)
Recommended Name: DNA excision repair protein ERCC-8  
Size: 396 amino acids; 44055 Da
Subunit: Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8,
RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9
signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Interacts with ERCC6 and
KIAA1530/UVSSA. Interacts with a subunit of RNA polymerase II TFIIH. Interacts with DDB1
Subcellular location: Nucleus (Probable)
1 PDB 3D structure from and Proteopedia for ERCC8:
4A11 (3D)    
Secondary accessions: B2RB64 Q6FHX5 Q96GB9
Alternative splicing: 2 isoforms:  Q13216-1   Q13216-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ERCC8: NX_Q13216

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q13216

  • ERCC8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000073.1  
    ENSEMBL proteins: 
     ENSP00000370510   ENSP00000265038   ENSP00000408344   ENSP00000400110   ENSP00000441732  
    Reactome Protein details: Q13216
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ERCC8

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000109nucleotide-excision repair complex IDA12732143
    GO:0005634nucleus IDA11782547
    GO:0005654nucleoplasm TAS--
    GO:0016363nuclear matrix IDA11782547
    GO:0031464Cul4A-RING ubiquitin ligase complex IDA12732143


    ERCC8 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ERCC8 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR019775 WD40_repeat_CS
     IPR001680 WD40_repeat
     IPR020472 G-protein_beta_WD-40_rep
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q13216

    ProtoNet protein and cluster: Q13216

    1 Blocks protein family: IPB001680 G-protein beta WD-40 repeat signature

    UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216
    Similarity: Contains 5 WD repeats


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

    Function Summary:

         UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216
    Function: Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase
    complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes
    the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is
    essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of
    XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions
    from the transcribed strand of active genes

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERCC8
    3 QIAGEN miScript miRNA Assays for microRNAs that regulate ERCC8:
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    SwitchGear 3'UTR luciferase reporter plasmidERCC8 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003678NOT DNA helicase activity IDA8999876
    GO:0004842contributes to ubiquitin-protein ligase activity IDA12732143
    GO:0005515protein binding IPI7664335
    GO:0008094NOT DNA-dependent ATPase activity IDA8999876
    GO:0032403protein complex binding IDA16916636


    ERCC8 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for ERCC8:
     Decreased homologous recombina  Decreased viability of wild-ty 

    Animal Models:
         Mouse knock-out Ercc8tm1Jhjh for ERCC8
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ercc8):
     cellular  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  nervous system  tumorigenesis  vision/eye 

    ERCC8 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Nucleotide Excision Repair
    Nucleotide Excision Repair1.00
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90
    2Formation of RNA Pol II elongation complex
    Dual incision reaction in TC-NER0.46
    Formation of transcription-coupled NER (TC-NER) repair complex0.46
    3Global Genomic NER (GG-NER)
    Nucleotide excision repair0.70
    4Antigen processing: Ubiquitination & Proteasome degradation
    Ubiquitin mediated proteolysis0.36

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for ERCC8
        DNA Repair
    Transcription-coupled NER (TC-NER)
    Formation of transcription-coupled NER (TC-NER) repair complex
    Dual incision reaction in TC-NER
    Nucleotide Excision Repair


    2         Kegg Pathways  (Kegg details for ERCC8):
        Nucleotide excision repair
    Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216
    Pathway: Protein modification; protein ubiquitination


    ERCC8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERCC8

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

    5/64 Interacting proteins for ERCC8 (Q132161, 2, 3 ENSP000002650384) via UniProtKB, MINT, STRING, and/or I2D (see all 64)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CBR1P161522, 3, ENSP000002903494MINT-63481 I2D: score=4 STRING: ENSP00000290349
    ERCC6Q034681, 3, ENSP000003480894EBI-596556,EBI-295284 I2D: score=2 STRING: ENSP00000348089
    CSNK2BP678702, 3MINT-8253264 I2D: score=2 
    XAB2Q9HCS71, 3, ENSP000003511374EBI-295260,EBI-295232 I2D: score=3 STRING: ENSP00000351137
    UQCRQO149492, 3, ENSP000003679344MINT-64126 I2D: score=4 STRING: ENSP00000367934
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IDA12732143
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006289nucleotide-excision repair TAS--
    GO:0006974response to DNA damage stimulus IDA11782547


    ERCC8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ERCC8
    Search CenterWatch for drugs/clinical trials and news about ERCC8 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, 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 ERCC8 gene (3 alternative transcripts): 
    NM_000082.3  NM_001007233.1  NM_001007234.1  

    Unigene Cluster for ERCC8:

    Excision repair cross-complementing rodent repair deficiency, complementation group 8
    Hs.435237  [show with all ESTs]
    Unigene Representative Sequence: AK226129
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381118 ENST00000265038(uc003jsm.3 uc011cqp.1) ENST00000462279(uc003jsk.2)
    ENST00000495985 ENST00000484330 ENST00000439176 ENST00000497892(uc003jsn.3)
    ENST00000477893 ENST00000426742(uc003jsl.3) ENST00000543101

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    hsa-miR-561 hsa-miR-1183 hsa-miR-32*
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    Inhib. RNA
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    Additional cDNA sequence: 

    AK056931.1 AK226129.1 AK290726.1 AK294856.1 AK304610.1 AK314511.1 BC009793.1 BC093802.1 
    BC112227.1 BT020021.1 CR536563.1 U28413.1 

    10 DOTS entries:

    DT.40111452  DT.453944  DT.86846342  DT.40118717  DT.95345963  DT.40118449  DT.91702243  DT.91702250 
    DT.91702251  DT.91730051 

    24/85 AceView cDNA sequences (see all 85):

    BQ014661 N79609 AW469891 AU125283 CK904716 NM_024994 CR536563 CB242410 
    BM835908 AK022657 AW418819 AA160339 BM833676 AL712255 AA129369 AI570815 
    AK056931 AI373342 CA314910 U28413 BM017684 AA868882 BX116922 BC009793 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ERCC8    About this scheme

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


    ECgene alternative splicing isoforms for ERCC8

    (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

    ERCC8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAATGCTGTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ERCC8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERCC8

    SOURCE GeneReport for Unigene cluster: Hs.435237
        SABiosciences Expression via Pathway-Focused PCR Arrays including ERCC8: 
              DNA Repair in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC8

    (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 eukaryotes.

    Orthologs for ERCC8 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ercc81 , 5 excision repaiross-complementing rodent repair deficiency, more1, 5 85.77(n)1
    89.9(a)1
      13 (59.69 cM)5
    719911  NM_028042.31  NP_082318.21 
     1081587315 
    chicken
    (Gallus gallus)
    Aves ERCC81 excision repair cross-complementing rodent repair deficiency, more 81.1(n)
    83.29(a)
      427153  XM_424742.3  XP_424742.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    80(a)
    68(a)
    many → 1
    many → 1
    2(8871856-8887023)
    AAWZ02038288(334-2531)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.55662 Xenopus laevis transcribed sequence with moderate similarity more 79.07(n)    48031021 
    zebrafish
    (Danio rerio)
    Actinopterygii 570519082   -- 75.79(n)    57051908 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ATCSA-16
    AT1G197506
    DNA excision repair protein ERCC-8
    31(a)
    30(a)
    many → 1
    many → 1
    1(9693008-9696412)
    1(6826997-6830063)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    WD domain, G-beta repeat domain containing protein...
    WD domain, G-beta repeat domain containing protein...
    32(a)
    31(a)
    many → 1
    many → 1
    2(12054829-12057368)
    1(37075424-37078495)


    ENSEMBL Gene Tree for ERCC8 (if available)
    TreeFam Gene Tree for ERCC8 (if available) 

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1286 NCBI SNPs in ERCC8 are shown (see all 1286    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs46471661,2
    C,F,--57127428(-) gttgcG/Aaactg 1 -- ds50013Minor allele frequency- A:0.04NS NA 300
    rs46471651,2
    C,--57127456(-) atgggG/Atttca 1 -- ds50011Minor allele frequency- A:0.01NS 178
    rs46471641,2
    C,F,--57127489(-) cgcccG/Agttaa 1 -- ds50014Minor allele frequency- A:0.06NS NA WA 418
    rs46471611,2
    C,--57127577(-) cagctC/Tactgc 1 -- ds50011Minor allele frequency- T:0.01NS 178
    rs46471601,2
    C,--57127603(-) caggcC/Tggagt 1 -- ds50011Minor allele frequency- T:0.01NS 178
    rs46471591,2
    C,F,--57127611(-) CTGTCG/TCTCAG 1 -- ds50013Minor allele frequency- T:0.08NS WA 298
    rs46471581,2
    C,F,H,--57127988(-) AGGCTT/CTTAAC 1 -- ut31 ese36Minor allele frequency- C:0.01NS EA WA 716
    rs46471571,2
    C,F,H,--57128052(-) CCATGC/ATTTAT 1 -- ut3117Minor allele frequency- A:0.10NS MN EA NA CSA WA 1813
    rs46471561,2
    C,F,--57128113(-) AAAATT/CATTTT 1 -- ut314Minor allele frequency- C:0.01NS NA 320
    rs46471551,2
    C,F,H,--57128132(-) TAGTTG/TAAATG 1 -- ut3123Minor allele frequency- T:0.14NS MN EA NA WA CSA 2398

    HapMap Linkage Disequilibrium report for ERCC8 (60169658 - 60240905 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ERCC8: --
    Human Gene Mutation Database (HGMD): ERCC8

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERCC8
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC8

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

    ERCC8 for disorders           About GeneDecksing

    OMIM gene information: 609412   
    OMIM disorders: 216400  
    UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216
  • Defects in ERCC8 are the cause of Cockayne syndrome type A (CSA) [MIM:216400]. Cockayne syndrome is 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
  • Defects in ERCC8 are the cause of UV-sensitive syndrome type 2 (UVSS2) [MIM:614621]. An autosomal recessive
  • disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities
    or skin tumors

    18 diseases for ERCC8:    About MalaCards
    cockayne syndrome    xeroderma pigmentosum, group c    xeroderma pigmentosum    uv sensitive syndrome
    pigmentary retinopathy    neurodegenerative disease    chronic myeloid leukemia    myeloid leukemia
    dwarfism    multiple sclerosis    microcephaly    skin cancer
    meningioma    leukemia    prostate cancer    breast cancer
    hypoxia    prostatitis

    1 disease from the University of Copenhagen DISEASES database for ERCC8:
    Cockayne syndrome

    5 Novoseek disease relationships for ERCC8 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    group a cockayne syndrome 98.4 8 19309286 (2), 17981804 (1), 11782547 (1), 15744458 (1) (see all 6)
    cockayne syndrome 95.4 10 8811173 (1), 15211661 (1), 17055654 (1), 18668526 (1) (see all 10)
    xeroderma pigmentosum 78 4 11782547 (1), 12665480 (1), 11104904 (1)
    genetic disorder 47.6 2 8811173 (1), 19329487 (1)
    neurodegenerative diseases 38.2 1 17055654 (1)

    GeneTests: ERCC8
    Cockayne Syndrome

    Human Genome Epidemiology (HuGE) Navigator: ERCC8 (7 documents)

    Export disorders for ERCC8 gene to outside databases

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

    PubMed articles for ERCC8 gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with ERCC8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (PubMed id 15744458)1, 2, 9 Ridley A.J.... Jones C.J. (2005)
    2. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. (PubMed id 7664335)1, 2, 9 Henning K.A.... Friedberg E.C. (1995)
    3. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. (PubMed id 19894250)1, 2 Laugel V....Dollfus H. (2010)
    4. CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. (PubMed id 16751180)1, 2 Groisman R....Nakatani Y. (2006)
    5. 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 Fousteri M....Mullenders L.H. (2006)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. (PubMed id 14661080)1, 2 Cao H.... Hegele R.A. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. (PubMed id 12732143)1, 2 Groisman R.... Nakatani Y. (2003)
    10. Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A. (PubMed id 8596535)1, 3 Itoh T....Yamaizumi M. (1996)

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

      Query String
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    OMIM
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      (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)
    About This Section
    Entrez Gene: 1161 HGNC: 3439 AceView: CKN1 Ensembl:ENSG00000049167 euGenes: HUgn1161
    ECgene: ERCC8 Kegg: 1161 H-InvDB: ERCC8

    (According to HUGE)
    About This Section
      --

    (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 ERCC8 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERCC8 Genetics and Cytogenetics in Oncology and Haematology
    Allelic variations of the XP geneshttp://www.xpmutations.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ERCC8
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ckn1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ERCC8 gene:
    Search GeneIP for patents involving ERCC8

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



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