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ERCC2 Gene

protein-coding   GIFtS: 71
GCID: GC19M045854

Excision Repair Cross-Complementation Group 2

(Previous names: xeroderma pigmentosum complementary group D, excision repair...)
(Previous symbol: XPD)
  See ERCC2-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 21 2     TFIIH P802 3
XPD1 2 3 5     COFS22 5
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 21 2
     EM92 5
Xeroderma Pigmentosum Complementary Group D1 2     Complementation Group 2 Protein1
TFIIH Basal Transcription Factor Complex Helicase XPB Subunit1 2     Excision Repair Cross-Complementing Rodent Repair Deficiency1
Basic Transcription Factor 2 80 KDa Subunit2 3     TFIIH2
Xeroderma Pigmentosum Group D-Complementing Protein2 3     TTD2
CXPD2 3     TFIIH Basal Transcription Factor Complex Helicase Subunit2
BTF2 P802 3     TFIIH Basal Transcription Factor Complex Helicase XPD Subunit2
DNA Excision Repair Protein ERCC-22 3     EC 3.6.4.123
DNA Repair Protein Complementing XP-D Cells2 3     XPDC3
TFIIH 80 KDa Subunit2 3     EC 3.6.18
TFIIH Basal Transcription Factor Complex 80 KDa Subunit2 3     

External Ids:    HGNC: 34341   Entrez Gene: 20682   Ensembl: ENSG000001048847   OMIM: 1263405   UniProtKB: P180743   

Export aliases for ERCC2 gene to outside databases

Previous GC identifers: GC19M046497 GC19M046245 GC19M050529 GC19M050546 GC19M042287


(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 ERCC2 Gene:
The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is
involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription
factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD
subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome
xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced
transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Aug 2008)

GeneCards Summary for ERCC2 Gene:
ERCC2 (excision repair cross-complementation group 2) is a protein-coding gene. Diseases associated with ERCC2 include xeroderma pigmentosum, group d, and cerebrooculofacioskeletal syndrome 2. GO annotations related to this gene include protein kinase activity and protein N-terminus binding.

UniProtKB/Swiss-Prot: ERCC2_HUMAN, P18074
Function: ATP-dependent 5'-3' DNA helicase, component of the core-TFIIH basal transcription factor. Involved in
nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA
polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the
core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic
spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and
could play a causative role in the generation of skin cancers

Gene Wiki entry for ERCC2 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 at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERCC2 gene promoter:
         GR   AML1a   p53   LCR-F1   MZF-1   Ik-2   GR-alpha   ZID   CBF(2)   En-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ERCC2 promoter sequence
   Search Chromatin IP Primers for ERCC2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERCC2


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

Entrez Gene cytogenetic band: 19q13.3   Ensembl cytogenetic band:  19q13.32   HGNC cytogenetic band: 19q13.3

ERCC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M045854:  view genomic region     (about GC identifiers)

Start:
45,853,095 bp from pter      End:
45,874,176 bp from pter
Size:
21,082 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: ERCC2_HUMAN, P18074 (See protein sequence)
Recommended Name: TFIIH basal transcription factor complex helicase XPD subunit  
Size: 760 amino acids; 86909 Da
Cofactor: Magnesium
Cofactor: Binds 1 4Fe-4S cluster
Subunit: One of the six subunits forming the core-TFIIH basal transcription factor which associates with the CAK
complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. The interaction
with GTF2H2 results in the stimulation of the 5'-->3' helicase activity. Component of the MMXD complex, which
includes CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with FAM196B; the interaction is direct. Interacts
with ATF7IP. Interacts with Epstein-Barr virus EBNA2
Sequence caution: Sequence=AAM45142.1; Type=Erroneous gene model prediction;
Secondary accessions: Q2TB78 Q2YDY2 Q7KZU6 Q8N721
Alternative splicing: 2 isoforms:  P18074-1   P18074-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ERCC2: NX_P18074

Explore proteomics data for ERCC2 at MOPED

Post-translational modifications: 

  • ISGylated (Probable)1
  • Ubiquitination2 at Lys113, Lys181, Lys268, Lys507, Lys603
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ERCC2 (P18074) (see all 17)
     LCIHPEV  LLVYFPY  SVARGKV  AIKPVFERF 


    See ERCC2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000391.1  NP_001124339.1  

    ENSEMBL proteins: 
     ENSP00000375809   ENSP00000375805   ENSP00000465593   ENSP00000431229   ENSP00000464887  
     ENSP00000465207   ENSP00000466998   ENSP00000375808   ENSP00000375804   ENSP00000221481  
    Reactome Protein details: P18074

    ERCC2 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ERCC2
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ERCC2
    GenScript Custom Purified and Recombinant Proteins Services for ERCC2
    Novus Biologicals ERCC2 Proteins
    Novus Biologicals ERCC2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for ERCC2 

    ERCC2 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for ERCC2 (XPD)
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    Novus Biologicals ERCC2 Antibodies
    Abcam antibodies for ERCC2
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ERCC2
    LSBio Antibodies in human, mouse, rat for ERCC2

    ERCC2 Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for ERCC2 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TFIIH: General transcription factor IIH complex subunits

    Selected InterPro protein domains (see all 9):
     IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
     IPR010614 DEAD_2
     IPR002464 DNA/RNA_helicase_DEAH_CS
     IPR027417 P-loop_NTPase
     IPR006554 Helicase-like_DEXD_c2

    Graphical View of Domain Structure for InterPro Entry P18074

    ProtoNet protein and cluster: P18074

    Selected Blocks protein domains (see all 6):
    IPB001945 Xeroderma pigmentosum group D protein signature
    IPB002464 ATP-dependent helicase
    IPB006554 DEXDc2
    IPB006555 Helicase c2
    IPB010614 DEAD_2


    UniProtKB/Swiss-Prot: ERCC2_HUMAN, P18074
    Similarity: Belongs to the helicase family. RAD3/XPD subfamily
    Similarity: Contains 1 helicase ATP-binding domain


    Find genes that share domains with ERCC2           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ERCC2_HUMAN, P18074
    Function: ATP-dependent 5'-3' DNA helicase, component of the core-TFIIH basal transcription factor. Involved in
    nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA
    polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the
    core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic
    spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and
    could play a causative role in the generation of skin cancers
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for ERCC2:
    excision repair cross-complementing rodent repair defect in CHO cells (includes overlapping antisense
    sequence),complementation group 2,yeast RAD3 homolog (see XPD) mutations modify GTFIIH stoichiometry in XPD
    patients

         Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

         Gene Ontology (GO): Selected molecular function terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity IEA--
    GO:0004672contributes to protein kinase activity IDA9852112
    GO:0005515protein binding IPI11445587
         
    Find genes that share ontologies with ERCC2           About GenesLikeMe


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ercc2) (see all 16):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     nervous system  pigmentation  reproductive system  skeleton  tumorigenesis 

    Find genes that share phenotypes with ERCC2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ercc2tm1Jhjh for ERCC2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ERCC2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ERCC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERCC2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERCC2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ERCC2:
    hsa-mir-1226-3p (MIRT036466), hsa-mir-17-5p (MIRT050977)

    Block miRNA regulation of human, mouse, rat ERCC2 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate ERCC2:
    hsa-miR-1299
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ERCC2
    Predesigned siRNA for gene silencing in human, mouse, rat ERCC2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ERCC2

    Clone
    Products:
         
    OriGene clones in human, mouse for ERCC2 (see all 12)
    OriGene ORF clones in mouse, rat for ERCC2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ERCC2 (NM_000400)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC2
    Addgene plasmids for ERCC2 

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ERCC2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC2

    Flow Cytometry
    Products:
       

     
    eBioscience FlowRNA Probe Sets ( VA1-12346) for ERCC2 


    (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
    ERCC2_HUMAN, P18074: Nucleus. Cytoplasm, cytoskeleton, spindle
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    nucleus5
    cytosol3
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000441SSL2-core TFIIH complex IEA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005675holo TFIIH complex TAS7663514
    GO:0005737cytoplasm IDA--

    Find genes that share ontologies with ERCC2           About GenesLikeMe


    (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 ERCC2 About   (see all 18)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Formation of RNA Pol II elongation complex
    mRNA Capping0.93
    RNA Polymerase II Pre-transcription Events0.73
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    Transcription of the HIV genome0.71
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    RNA Polymerase II Transcription Initiation And Promoter Clearance0.67
    Formation of the Early Elongation Complex0.77
    RNA Polymerase II Transcription Initiation0.67
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Dual incision reaction in GG-NER0.62
    Nucleotide excision repair0.69
    Formation of incision complex in GG-NER0.62
    3Pyrimidine metabolism
    Fluoropyrimidine Activity0.69
    Fluoropyrimidine Pathway, Pharmacodynamics0.00
    4DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Dual incision reaction in TC-NER0.65
    5RNA Polymerase I Promoter Opening
    RNA Polymerase I Transcription0.78
    RNA Polymerase I Promoter Clearance0.78
    RNA Polymerase I Chain Elongation0.78
    RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription0.73


    Find genes that share SuperPaths with ERCC2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ERCC2
        DNA Repair Mechanisms

    3 Cell Signaling Technology (CST) Pathways for ERCC2
        Chromatin Regulation / Acetylation
    Cell Cycle / Checkpoint Control
    DNA Damage

    2 GeneGo (Thomson Reuters) Pathways for ERCC2
        Transcription P53 signaling pathway
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    2 BioSystems Pathways for ERCC2
        Fluoropyrimidine Activity
    Eukaryotic Transcription Initiation

    Selected Reactome Pathways for ERCC2 (see all 28)
        Formation of RNA Pol II elongation complex
    Tat-mediated elongation of the HIV-1 transcript
    RNA Polymerase I Promoter Escape
    NoRC negatively regulates rRNA expression
    RNA Polymerase II Transcription Initiation And Promoter Clearance

    2 PharmGKB Pathways for ERCC2
        Doxorubicin Pathway (Cancer Cell), Pharmacodynamics
    Fluoropyrimidine Pathway, Pharmacodynamics

    2 Kegg Pathways  (Kegg details for ERCC2):
        Basal transcription factors
    Nucleotide excision repair

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC2 (see all 6): 
              DNA Damage Signaling Pathway in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              Apoptosis 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERCC2

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

    Selected Interacting proteins for ERCC2 (P180743 ENSP000003758094) via UniProtKB, MINT, STRING, and/or I2D (see all 284)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX39BQ138383, ENSP000003794754I2D: score=1 STRING: ENSP00000379475
    ENSG00000225073Q138383, ENSP000004003264I2D: score=1 STRING: ENSP00000400326
    ENSG00000215425Q138383I2D: score=1 
    ENSG00000225859Q138383I2D: score=1 
    ENSG00000229496Q138383I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 49):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0001666response to hypoxia IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0006139nucleobase-containing compound metabolic process ----
    GO:0006200ATP catabolic process TAS8663148

    Find genes that share ontologies with ERCC2           About GenesLikeMe



    (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 ERCC2

    1 HMDB Compound for ERCC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    Selected Novoseek inferred chemical compound relationships for ERCC2 gene (see all 23)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sarcnu 67.4 6 10632359 (3), 11783015 (1)
    chloroethylnitrosourea 61.5 4 9351972 (1)
    cisplatin 52.8 43 14624713 (4), 12839662 (3), 17151930 (3), 12359753 (3) (see all 18)
    oxaliplatin 45.8 9 18085999 (4), 18204222 (2), 11751380 (1), 17166391 (1)
    ecteinascidin 743 42.8 3 11479630 (1), 15328203 (1)
    gemcitabine 36.5 10 18494946 (3), 14624713 (2), 15217961 (1), 18347182 (1) (see all 5)
    thymidylate 35.3 6 17111423 (1), 12749725 (1), 19388510 (1), 17166391 (1) (see all 5)
    bcnu 31.9 8 9588557 (2), 17151930 (2), 9351972 (1)
    platinum 20.7 6 16649224 (4), 18085999 (1)
    mspi 20.5 1 17418242 (1)

    7 PharmGKB related drug/compound annotations for ERCC2 gene    About this table
    Drug/compound PharmGKB Annotation
    Platinum compoundsCA  
    cisplatinCA  
    cyclophosphamideCA  
    fluorouracilCA  
    leucovorinCA  
    oxaliplatinCA  
    platinumCA  



    Find genes that share compounds with ERCC2           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ERCC2 gene (2 alternative transcripts): 
    NM_000400.3  NM_001130867.1  

    Unigene Cluster for ERCC2:

    Excision repair cross-complementing rodent repair deficiency, complementation group 2
    Hs.487294  [show with all ESTs]
    Unigene Representative Sequence: NM_000400
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000391945(uc002pbj.2 uc010ejz.2 uc010xxj.1) ENST00000588652
    ENST00000391942(uc002pbh.2 uc002pbi.2) ENST00000391941(uc002pbk.2 uc002pbl.4)
    ENST00000587376 ENST00000485403 ENST00000586131 ENST00000591309 ENST00000586737
    ENST00000586441 ENST00000586856 ENST00000391944 ENST00000391940 ENST00000221481

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    1 qRT-PCR Assays for microRNA that regulate ERCC2:
    hsa-miR-1299
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    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): ERCC2 (NM_000400)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ERCC2
      QuantiTect SYBR Green Assays in human, mouse, rat ERCC2
      QuantiFast Probe-based Assays in human, mouse, rat ERCC2
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-12346) for ERCC2 

    Additional mRNA sequence: 

    AK092872.1 AK130849.1 AK303358.1 BC008346.1 BC108255.1 BC110522.1 BC110523.1 BT006883.1 

    8 DOTS entries:

    DT.409967  DT.100023942  DT.102832553  DT.100781635  DT.91655947  DT.100818854  DT.100699769  DT.40282211 

    Selected AceView cDNA sequences (see all 173):

    BM829927 BQ212102 CD722527 AW009798 T08987 CB144373 BX103096 CA440400 
    CA441707 BQ962204 BX104913 BM743465 BC008346 CF125362 CR613691 BT006883 
    BQ010191 BQ953731 BM801079 NM_000400 BM904338 BI225966 AW409717 X52221 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ERCC2 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^
    SP1:                                                                                -           -     -                                                         
    SP2:                                                                                            -     -                                                         
    SP3:                                                                                -           -                                                               
    SP4:                                                                                                                                                            
    SP5:                                                                                -           -     -                       -                                 

    ExUns: 22 ^ 23
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for ERCC2

    (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)
    About This Section

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    ERCC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTTTGCCG
    ERCC2 Expression
    About this image

    ERCC2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERCC2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.487294
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC2 (see all 6): 
              DNA Damage Signaling Pathway in human mouse rat
              Oxidative Stress in human mouse rat
              Nitric Oxide Signaling Pathway in human mouse rat
              DNA Repair in human mouse rat
              Apoptosis 384HT in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC2

    (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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ERCC2 gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ercc21 , 5 excision repair cross-complementing rodent repair deficiency, more1, 5 89.21(n)1
    97.5(a)1
      7 (9.62 cM)5
    138711  NM_007949.41  NP_031975.21 
     193820105 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX694006.12   -- 74.53(n)    BX694006.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563652 similar to excision repair cross-complementing rodent more 76.64(n)   393900  BC049410.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Xpd1 , 3 transcription initiation from Pol II
    promoter more3
    Xeroderma pigmentosum D1
    68(a)3
    66.3(n)1
    69.26(a)1
      57C73
    374141  NM_166429.21  NP_726036.21 
    worm
    (Caenorhabditis elegans)
    Secernentea Y50D7A.21 , 3 Y50D7A.21 58(a)3
    58.06(n)1
    61.53(a)1
      III(265096-282872)3
    1751901  NM_064781.21  NP_497182.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD3(YER171W)4
    RAD31
    5' to 3' DNA helicase, involved in nucleotide excision more4
    RAD31
    52.03(n)1
    53.5(a)1
      5(527082-529418)4
    8569181, 4  NP_011098.31  NP_011098.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UVH61 UVH6 56.3(n)
    55.62(a)
      839557  NM_100201.2  NP_171818.1 
    rice
    (Oryza sativa)
    Liliopsida Os05g01448001 Os05g0144800 58.42(n)
    56.46(a)
      4337788  NM_001061162.1  NP_001054627.1 


    ENSEMBL Gene Tree for ERCC2 (if available)
    TreeFam Gene Tree for ERCC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ERCC2 gene
    1 SIMAP similar gene for ERCC2 using alignment to 8 protein entries:     ERCC2_HUMAN (see all proteins):
    BRIP1

    Find genes that share paralogs with ERCC2           About GenesLikeMe



    (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 ERCC2 (see all 819)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs415565191,2,,4
    CXeroderma pigmentosum complementation group D (XP-D)4 pathogenic146045295(-) CACAGC/TGGTTT 2 R W mis13Minor allele frequency- T:0.00NA 4532
    rs1219130191,2,,4
    CXeroderma pigmentosum complementation group D (XP-D)4 pathogenic146047717(-) TCACCA/CGCTAC 2 S R mis10--------
    VAR_0081934
    Xeroderma pigmentosum complementation group D (XP-D)4--see VAR_0081932 R W mis40--------
    VAR_0081894
    Trichothiodystrophy photosensitive (TTDP)4--see VAR_0081892 C Y mis40--------
    VAR_0081964
    Trichothiodystrophy photosensitive (TTDP)4--see VAR_0081962 D G mis40--------
    VAR_0172834
    Xeroderma pigmentosum complementation group D (XP-D)4--see VAR_0172832 L P mis40--------
    VAR_0036264
    Xeroderma pigmentosum complementation group D (XP-D)4--see VAR_0036262 R P mis40--------
    VAR_0172904
    Trichothiodystrophy photosensitive (TTDP)4--see VAR_0172902 R G mis40--------
    VAR_0081954
    Trichothiodystrophy photosensitive (TTDP)4--see VAR_0081952 R H mis40--------
    VAR_0036304
    Trichothiodystrophy photosensitive (TTDP)4--see VAR_0036302 R W mis40--------

    HapMap Linkage Disequilibrium report for ERCC2 (45853095 - 45874176 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ERCC2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv470146CNV Loss18288195
    nsv833845CNV Loss17160897
    nsv833844CNV Loss17160897
    nsv912146CNV Loss21882294
    nsv515681CNV Loss19592680
    nsv458711CNV Gain19166990
    dgv29n64CNV Gain17921354
    nsv428365CNV Gain+Loss18775914
    nsv442466CNV CNV18776908

    Human Gene Mutation Database (HGMD): ERCC2
    Locus Specific Mutation Databases (LSDB): ERCC2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERCC2
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    (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: 126340   
    OMIM disorders: 278730  601675  610756  
    UniProtKB/Swiss-Prot: ERCC2_HUMAN, P18074
  • Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]: An autosomal recessive pigmentary skin
    disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas
    exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other
    pigmentation abnormalities. Some XP-D patients present features of Cockayne syndrome, including cachectic
    dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining
    xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Trichothiodystrophy photosensitive (TTDP) [MIM:601675]: TTDP is an autosomal recessive disease
    characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual
    development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER)
    defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity
    of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic
    phenotype. There are no reports of skin cancer associated with TTDP. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756]: 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

  • 20 diseases for ERCC2:    
    About MalaCards
    xeroderma pigmentosum, group d    cerebrooculofacioskeletal syndrome 2    ercc2-related xeroderma pigmentosum    chromosome 19q deletion
    warsaw breakage syndrome    xeroderma pigmentosum, group b    photosensitive trichothiodystrophy    trichothiodystrophy, complementation group a
    cerebro-oculo-facio-skeletal syndrome    cockayne syndrome    cutaneous fibrous histiocytoma    cockayne syndrome type ii
    bladder cancer susceptibility    xeroderma pigmentosum    microtia    diffuse gastric cancer
    mutagen sensitivity    squamous cell carcinoma of the head and neck    lung cancer    breast cancer

    7 diseases from the University of Copenhagen DISEASES database for ERCC2:
    Xeroderma pigmentosum     Photosensitive trichothiodystrophy     Cockayne syndrome     Lung cancer
    Skin cancer     Urinary bladder cancer     Carcinoma

    Find genes that share disorders with ERCC2           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ERCC2 gene (see all 45)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trichothiodystrophy 96.2 45 12820975 (2), 9238033 (2), 18470933 (2), 19085937 (2) (see all 30)
    xeroderma pigmentosum, complementation group d 95.3 17 9101292 (2), 8033104 (2), 9426063 (1), 15982307 (1) (see all 14)
    xeroderma pigmentosum 94.9 95 11709541 (3), 19933257 (2), 16331501 (2), 12820975 (2) (see all 76)
    cockayne syndrome 91.2 17 11710928 (2), 9426063 (1), 15982307 (1), 19442249 (1) (see all 15)
    skin cancer 68.6 12 15941969 (3), 9192652 (1), 11606376 (1), 18817897 (1) (see all 8)
    genetic disorder 58.8 9 10667598 (1), 11955452 (1), 19442249 (1), 11746743 (1) (see all 9)
    cancer 56.8 52 16054878 (3), 15182505 (3), 18349268 (3), 18825991 (3) (see all 33)
    ichthyosis 55.1 1 7629061 (1)
    cancer lung 54.7 72 15182505 (4), 16054657 (4), 12692111 (4), 17705814 (4) (see all 29)
    nsclc 49.9 25 16061005 (2), 19458053 (2), 16875604 (2), 15173214 (2) (see all 14)

    GeneTests: ERCC2
    GeneReviews: ERCC2
    Genetic Association Database (GAD): ERCC2
    Human Genome Epidemiology (HuGE) Navigator: ERCC2 (448 documents)

    Export disorders for ERCC2 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

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    PubMed articles for ERCC2 gene, integrated from 10 sources (see all 805):
    (articles sorted by number of sources associating them with ERCC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Associations between ercc2 polymorphisms and gliomas. (PubMed id 11319176)1, 2, 4, 9 Caggana M.... Wrensch M.R. (Cancer Epidemiol. Biomarkers Prev. 2001)
    2. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. (PubMed id 9238033)1, 2, 4, 9 Taylor E.M.... Lehmann A.R. (Proc. Natl. Acad. Sci. U.S.A. 1997)
    3. ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. (PubMed id 2184031)1, 2, 3, 9 Weber C.A.... Thompson L.H. (EMBO J. 1990)
    4. Human Xeroderma pigmentosum group D gene encodes a DNA helicase. (PubMed id 8413672)1, 2, 3, 9 Sung P.... Prakash S. (Nature 1993)
    5. Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. (PubMed id 11245433)1, 2, 4 Spitz M.R.... Wei Q. (Cancer Res. 2001)
    6. Association of XPD polymorphisms with prostate cancer in Taiwanese patients. (PubMed id 17695467)1, 4, 9 Bau D.T....Tsai F.J. (Anticancer Res. 2007)
    7. Assessment of nucleotide excision repair XPD polymorphisms in the peripheral blood of gemcitabine/cisplatin-treated advanced non-small-cell lung cancer patients. (PubMed id 14624713)1, 4, 9 Camps C....Rosell R. (Clin Lung Cancer 2003)
    8. XPD codon 751 polymorphism, metabolism genes, smoking, and bladder cancer risk. (PubMed id 12376500)1, 4, 9 Stern M.C....Taylor J.A. (amp 2002)
    9. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. (PubMed id 7849702)1, 2, 9 Frederick G.D.... Friedberg E.C. (Hum. Mol. Genet. 1994)
    10. Decreased expression and the Lys751Gln polymorphism of the XPD gene are associated with extreme longevity. (PubMed id 19707883)1, 4, 9 Polosak J....Puzianowska-Kuznicka M. (Biogerontology 2010)

    (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: 2068 HGNC: 3434 AceView: ERCC2 Ensembl:ENSG00000104884 euGenes: HUgn2068
    ECgene: ERCC2 Kegg: 2068 H-InvDB: ERCC2

    (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)
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    NameDescription
    PharmGKB entry for ERCC2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERCC2 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=ERCC2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ercc2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ERCC2 gene:
    Search GeneIP for patents involving ERCC2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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