ERCC8 Gene
protein-coding GIFtS: 63
GCID: GC05M060169
|
|
excision repair cross-complementing rodent repair deficiency,...(Previous name: Cockayne syndrome 1 (classical) ) (Previous symbol: CKN1)
| |
Aliases for ERCC8 gene
(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 |
Export aliases for ERCC8 gene to outside databasesPrevious GC identifers: GC00U990095 GC05M060206 GC05M057127 |
Summaries for ERCC8 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 ERCC8: This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified inpatients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiationand are defective in the repair of transcriptionally active genes. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216Function: Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligasecomplex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotesthe ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation isessential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment ofXAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesionsfrom the transcribed strand of active genes Gene Wiki entry for ERCC8
|
Genomic Views for ERCC8 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 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
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: 5q12.1ERCC8 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

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:
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minus strand |
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Proteins for ERCC8 gene
(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 COP9signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Interacts with ERCC6 andKIAA1530/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 Q96GB9Alternative 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 PhosphoSitePlus2View neXtProt modification sites for NX_Q13216 ERCC8 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000073.1 ENSEMBL proteins: ENSP00000370510 ENSP00000265038 ENSP00000408344 ENSP00000400110 ENSP00000441732 Reactome Protein details: Q13216 Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
ERCC8 for ontologies About GeneDecksing
ERCC8 Antibody Products: Assay Products for ERCC8: |
Protein
Domains / Families for ERCC8 gene(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:Graphical View of Domain Structure for InterPro Entry Q13216ProtoNet protein and cluster: Q13216 1 Blocks protein family: IPB001680 G-protein beta WD-40 repeat signature
UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216Similarity: Contains 5 WD repeats |
Function for ERCC8 gene
(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, Q13216Function: Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligasecomplex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotesthe ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation isessential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment ofXAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesionsfrom the transcribed strand of active genes
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC8 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC8 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ERCC8 (NM_000082) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ERCC8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC8  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC8 |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
ERCC8 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for ERCC8: Animal Models: Mouse knock-out Ercc8tm1Jhjh for ERCC8 10 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Ercc8):
ERCC8 for phenotypes About GeneDecksing
|
Pathways & Interactions for ERCC8 gene
(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-pathway | contained gene-specific pathways |
|---|
| 1 | Nucleotide Excision Repair | | | 2 | Formation of RNA Pol II elongation complex | | | 3 | Global Genomic NER (GG-NER) | | | 4 | Antigen processing: Ubiquitination & Proteasome degradation | |
Pathway sources See GeneCards unified pathways Show all pathways
5
Reactome Pathways for ERCC8
2
Kegg Pathways (Kegg details for ERCC8): UniProtKB/Swiss-Prot: ERCC8_HUMAN, Q13216Pathway: 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)
| Interactant | Interaction Details |
|---|
| GeneCard | External ID(s) |
|---|
| CBR1 | P161522, 3, ENSP000002903494 | MINT-63481 I2D:
score=4 STRING: ENSP00000290349 | | ERCC6 | Q034681, 3, ENSP000003480894 | EBI-596556,EBI-295284 I2D:
score=2 STRING: ENSP00000348089 | | CSNK2B | P678702, 3 | MINT-8253264 I2D:
score=2 | | XAB2 | Q9HCS71, 3, ENSP000003511374 | EBI-295260,EBI-295232 I2D:
score=3 STRING: ENSP00000351137 | | UQCRQ | O149492, 3, ENSP000003679344 | MINT-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
ERCC8 for ontologies About GeneDecksing
|
Drugs & Compounds for ERCC8 gene(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 Tocris compounds for ERCC8 Search CenterWatch for drugs/clinical trials and news about ERCC8 
|
Transcripts for ERCC8 gene(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: AK22612910 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
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC8 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC8 (see all 3) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ERCC8 (NM_000082) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ERCC8 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC8  |
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
|
Expression for ERCC8 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
| ERCC8 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AAATGCTGTA
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:
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ERCC8 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ERCC8 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERCC8 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERCC8 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC8 |
Orthologs for ERCC8 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 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 → 1many → 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-16AT1G197506 |
DNA excision repair protein ERCC-8 |
31(a)30(a) |
many → 1many → 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 → 1many → 1 |
2(12054829-12057368) 1(37075424-37078495) |
ENSEMBL Gene Tree for ERCC8 (if available) TreeFam Gene Tree for ERCC8 (if available)  |
Paralogs for ERCC8 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for ERCC8 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 5 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
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 |
|
Disorders
/ Diseases for ERCC8 gene
(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 raredisorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroidappearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development andsevere progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in theclassical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within thefirst few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms thatmanifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlikexeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentationabnormalities 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 recessivedisorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalitiesor skin tumors 18 diseases for ERCC8: About MalaCardscockayne 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
GeneTests: ERCC8 Cockayne Syndrome Human Genome Epidemiology (HuGE) Navigator: ERCC8 (7 documents) Export disorders for ERCC8 gene to outside databases
|
Publications for ERCC8 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 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 |
- 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)
- 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)
- Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. (PubMed id 19894250)1, 2 Laugel V....Dollfus H. (2010)
- 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)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- 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)
- 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)
- 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)
- Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A. (PubMed id 8596535)1, 3 Itoh T....Yamaizumi M. (1996)
|
External Searches for ERCC8 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ERCC8 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ERCC8 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ERCC8 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
|
| Name | Description |
| 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 genes | http://www.xpmutations.org/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ERCC8 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/ckn1/ |
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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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Products for ERCC8 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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| | | | OriGene Antibodies for ERCC8 | | OriGene shRNA RFP for ERCC8 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERCC8 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ERCC8 | | OriGene Protein Over-expression Lysate for ERCC8 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for ERCC8 | | OriGene 3'-UTR Clone for ERCC8 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC8 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC8 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for ERCC8 | | OriGene Custom Protein Services for ERCC8 | | OriGene Custom Immunoassay Development | | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ERCC8 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERCC8 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERCC8 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERCC8 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERCC8 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERCC8 |
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| | | Search Tocris compounds for ERCC8 |
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 | | ERCC8 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC8 |
|  |  |  | | | ThermoFisher Antibody for ERCC8 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC8 |
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