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

ERCC2 Gene

protein-coding   GIFtS: 72
GCID: GC19M045854

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

(Previous name: xeroderma pigmentosum complementary group D )
(Previous symbol: XPD)
 Explore 141 diseases affiliated with
ERCC2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ERCC2    

Aliases
for ERCC2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 21 2
     TFIIH P802 3
XPD1 2 3 5     COFS22 5
EM91 2 5     MAG1
Xeroderma Pigmentosum Complementary Group D1 2     MGC1027621
Basic Transcription Factor 2 80 KDa Subunit2 3     MGC1262181
Xeroderma Pigmentosum Group D-Complementing Protein2 3     MGC1262191
CXPD2 3     TTD2
BTF2 P802 3     TFIIH Basal Transcription Factor Complex Helicase Subunit2
DNA Excision Repair Protein ERCC-22 3     TFIIH Basal Transcription Factor Complex Helicase XPD Subunit2
DNA Repair Protein Complementing XP-D Cells2 3     EC 3.6.4.123
TFIIH 80 KDa Subunit2 3     XPDC3
TFIIH Basal Transcription Factor Complex 80 KDa Subunit2 3     EC 3.6.18

External Ids:    HGNC: 34341   Entrez Gene: 20682   Ensembl: ENSG000001048847   OMIM: 1263405   UniProtKB: P180743   
ORGUL members:         
NONCODE:n338715    

Export aliases for ERCC2 gene to outside databases

Previous GC identifers: GC19M046497 GC19M046245 GC19M050529 GC19M050546 GC19M042287


Summaries
for ERCC2 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 ERCC2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ERCC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ERCC2 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: 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
Subcellular location: Nucleus. Cytoplasm, cytoskeleton, spindle
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

Post-translational modifications:

  • ISGylated (Probable)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P18074

    • 4/17 DME Specific Peptides for ERCC2 (P18074) (see all 17)
     LCIHPEV  LLVYFPY  SVARGKV  AIKPVFERF 

    ERCC2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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
    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 2): ERCC2
    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 ProSpec Recombinant Proteins
    Uscn Proteins for ERCC2

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (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--


    ERCC2 for ontologies           About GeneDecksing



    ERCC2 Antibody Products: 
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    R&D Systems Antibodies for ERCC2 (XPD)
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    Novus Biologicals ERCC2 Antibodies
    Abcam antibodies for ERCC2 
    Uscn Antibodies for ERCC2
    ThermoFisher Antibodies for ERCC2

    Assay Products for ERCC2: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
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    Uscn ELISAs and CLIAs for ERCC2

    Protein Domains /
    Families
    for ERCC2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ERCC2 for domains           About GeneDecksing

    5/8 InterPro domains/families (see all 8):
     IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3
     IPR010614 DEAD_2
     IPR002464 DNA/RNA_helicase_DEAH_CS
     IPR006554 Helicase-like_DEXD_c2
     IPR001945 XPGD_DNA_repair

    Graphical View of Domain Structure for InterPro Entry P18074

    ProtoNet protein and cluster: P18074

    5/6 Blocks protein families (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


    Function
    for ERCC2 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: 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

    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): ERCC2
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERCC2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ERCC2:
    hsa-miR-1299
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERCC2 (see all 4)
    OriGene shRNA RFP: ERCC2
    OriGene siRNA: ERCC2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERCC2

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

    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 ERCC2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC2 (see all 2)
    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 

    Cell Line
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    Search LifeMap BioReagents cell lines for ERCC2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC2

    Gene Ontology (GO): 5/13 molecular function terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004003ATP-dependent DNA helicase activity IEA--
    GO:0004672contributes to protein kinase activity IDA9852112
    GO:0005515protein binding IPI11445587
    GO:0005524ATP binding IEA--


    ERCC2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Ercc2tm1Jhjh for ERCC2
         15/16 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Ercc2) (see all 16):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size 
     hematopoietic system  homeostasis/metabolism  immune system  integument  mortality/aging 
     nervous system  pigmentation  reproductive system  skeleton  tumorigenesis 

    ERCC2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ERCC2 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 - 5/21 super-pathways (see all 21) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Formation of RNA Pol II elongation complex
    8/26 pathways (see all 26)
    		RNA Polymerase II Transcription Elongation1.00
    		Dual incision reaction in TC-NER0.46
    		Formation of HIV-1 elongation complex in the absence of HIV-1 Tat1.00
    		Formation of transcription-coupled NER (TC-NER) repair complex0.46
    		Formation of RNA Pol II elongation complex 1.00
    		Addition of the fourth nucleotide on the nascent HIV-1 transcript: Second Transition0.40
    		Formation of HIV-1 elongation complex containing HIV-1 Tat0.98
    		RNA Polymerase II Transcription Initiation And Promoter Clearance0.40
    2RNA Polymerase I Chain Elongation
    		RNA Polymerase I Chain Elongation1.00
    		RNA Polymerase I Transcription Termination0.90
    		RNA Polymerase I Promoter Escape0.95
    		RNA Polymerase I Promoter Clearance0.86
    		RNA Polymerase I Transcription Initiation0.90
    		RNA Polymerase I Transcription0.79
    3Global Genomic NER (GG-NER)
    		Global Genomic NER (GG-NER)1.00
    		Dual incision reaction in GG-NER0.61
    		Nucleotide excision repair0.70
    		Formation of incision complex in GG-NER0.61
    4HIV Infection
    		HIV Infection1.00
    		Transcription Ligand-Dependent Transcription of Retinoid-Target genes0.28
    		Transcription_Ligand-Dependent Transcription of Retinoid-Target genes0.28
    5Nucleotide Excision Repair
    		Nucleotide Excision Repair1.00
    		DNA Repair0.46
    		Transcription-coupled NER (TC-NER)0.90

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for ERCC2
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    Transcription P53 signaling pathway

    1 Downloadable PowerPoint Slide of QIAGEN 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

    5/49        Reactome Pathways for ERCC2 (see all 49)
        Tat-mediated elongation of the HIV-1 transcript
    RNA Polymerase I Promoter Escape
    RNA Polymerase II Transcription Initiation And Promoter Clearance
    RNA Polymerase I Transcription
    Addition of the fourth nucleotide on the Nascent Transcript: Second Transition

    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


    ERCC2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERCC2

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

    5/206 Interacting proteins for ERCC2 (P180743 ENSP000003758094) via UniProtKB, MINT, STRING, and/or I2D (see all 206)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GTF2H2CQ6P1K83, ENSP000003701054I2D: score=2 STRING: ENSP00000370105
    CDK7P506133, ENSP000002564434I2D: score=7 STRING: ENSP00000256443
    MNAT1P519483, ENSP000002612454I2D: score=5 STRING: ENSP00000261245
    GCN1L1Q926163, ENSP000003006484I2D: score=4 STRING: ENSP00000300648
    MMS19Q96T763, ENSP000003598184I2D: score=4 STRING: ENSP00000359818
    About this table

    Gene Ontology (GO): 5/47 biological process terms (GO ID links to tree view) (see all 47):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint IMP17088560
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0001666response to hypoxia IEA--
    GO:0001701in utero embryonic development IEA--
    GO:0006281DNA repair TAS--


    ERCC2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ERCC2 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

    ERCC2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ERCC2

    1 HMDB Compound for ERCC2    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--
    10/23 Novoseek 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
    Drug/compound PharmGKB Annotation
    Platinum compoundsCA  
    cisplatinCA  
    cyclophosphamideCA  
    fluorouracilCA  
    leucovorinCA  
    oxaliplatinCA  
    platinumCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about ERCC2 

    Transcripts
    for ERCC2 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 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


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERCC2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ERCC2:
    hsa-miR-1299
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERCC2 (see all 4)
    OriGene shRNA RFP: ERCC2
    OriGene siRNA: ERCC2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERCC2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC2 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC2 (see all 2)
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC2 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ERCC2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERCC2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERCC2

    Additional cDNA 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 

    24/173 AceView cDNA sequences (see all 173):

    X52221 BQ064920 BT006883 CR613691 BM769772 AW009798 BX103096 BM743465 
    BQ953731 BI518462 BM801079 NM_000400 AW409717 CA441707 BM784840 CD722527 
    BQ962204 BC008346 BM904338 BQ212102 CB144373 CA440400 BX104913 BM829927 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for ERCC2 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

    ERCC2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTCTTTGCCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ERCC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERCC2

    SOURCE GeneReport for Unigene cluster: Hs.487294
        SABiosciences Expression via Pathway-Focused 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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ERCC2
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERCC2
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC2

    Orthologs
    for ERCC2 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 ERCC2 gene from 8/31 species (see all 31)    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
    66.31(n)1
    68.82(a)1    		   57C73
    374141  NM_166429.21  NP_726036.21 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y50D7A.21 , 3 Protein 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
    Rad3p1    		 51.62(n)1
    52.87(a)1    		   5(527082-529418)4
    8569181, 4  NP_011098.31  NP_011098.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons UVH61 DNA repair helicase UVH6 56.11(n)
    55.3(a)    		   839557  NM_179253.1  NP_849584.1 
    rice
    (Oryza sativa)    		 Liliopsida Os05g01448001 hypothetical protein 57.95(n)
    55.51(a)    		   4337788  NM_001061162.1  NP_001054627.1 


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

    Paralogs
    for ERCC2 gene

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

    Genomic Variants
    for ERCC2 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

    10/549 NCBI SNPs in ERCC2 are shown (see all 549)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219130261,2
    		Cpathogenic42288338(-) TCCTGC/TGGCAG 2 R W mis11Minor allele frequency- T:0.00NA 4534
    rs415565191,2
    		Cpathogenic42288455(-) CACAGC/TGGTTT 2 R W mis13Minor allele frequency- T:0.00NA 4532
    rs1219130241,2
    		Cpathogenic42288905(-) ACGGGC/TGGGCC 2 R W mis11Minor allele frequency- T:0.00NA 4536
    rs1219130191,2
    		C,pathogenic42290877(-) TCACCA/CGCTAC 2 S R mis10--------
    rs1219130161,2
    		C,Fpathogenic42293470(-) AGACAC/GTGTCC 2 L V mis11Minor allele frequency- G:0.00NA 4550
    rs1219130201,2
    		Cpathogenic42304817(-) CTCCCA/GCAAAA 4 H R mis10--------
    rs39168981,2
    		C,F,--42287180(-) CCTCAT/GCTCTG 1 -- ds50012Minor allele frequency- G:0.04NS NA 246
    rs39168971,2
    		C,F,H,--42287211(-) CTCCAC/ACACTG 1 -- ds50018Minor allele frequency- A:0.00NS EA NA CSA 553
    rs39168961,2
    		C,F,--42287213(-) GACTCC/TANNNN 1 -- ds50012Minor allele frequency- T:0.02NS NA 248
    rs39168941,2
    		C,--42287302(-) CAACTA/CTCCAA 1 -- ds50011Minor allele frequency- C:0.01NS 128

    HapMap Linkage Disequilibrium report for ERCC2 (45853095 - 45874176 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ERCC2
         3 CNVs: 9802 50181 37708
    Human Gene Mutation Database (HGMD): ERCC2

    Locus Specific Mutation Databases (LSDB): ERCC2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERCC2
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC2

    Disorders / Diseases
    for ERCC2 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
    ERCC2 for disorders           About GeneDecksing

    OMIM gene information: 126340   
    OMIM disorders: 278730  601675  610756  
    UniProtKB/Swiss-Prot: ERCC2_HUMAN, P18074
  • Defects in ERCC2 are the cause of xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]; also
    • known as XP group D (XPD). Xeroderma pigmentosum is 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. Some XP-D patients present features of Cockayne syndrome, including dwarfism,
    sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia, decreased nerve conduction
    velocities
  • Defects in ERCC2 are a cause of 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
  • Defects in ERCC2 are the cause of cerebro-oculo-facio-skeletal syndrome type 2 (COFS2) [MIM:610756]. COFS is a
    • degenerative autosomal recessive disorder of prenatal onset affecting the brain, eye and spinal cord. After birth, it
    leads to brain atrophy, hypoplasia of the corpus callosum, hypotonia, cataracts, microcornea, optic atrophy,
    progressive joint contractures and growth failure. Facial dysmorphism is a constant feature. Abnormalities of the
    skull, eyes, limbs, heart and kidney also occur

    20/141 diseases for ERCC2 (see all 141):    About MalaCards
    xeroderma pigmentosum    xeroderma pigmentosum, group d    cockayne syndrome    open-angle glaucoma
    xeroderma pigmentosum, group b    ehlers-danlos syndrome    warsaw breakage syndrome    diffuse large b-cell lymphoma
    primary open angle glaucoma    photosensitive trichthiodystrophy    age related macular degeneration    cerebrooculofacioskeletal syndrome
    cerebrooculofacioskeletal syndrome 2    b-cell lymphomas    pre-eclampsia    acoustic neuroma
    mutagen sensitivity    non-hodgkin lymphoma    squamous cell carcinoma    corpus callosum

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

    10/45 Novoseek 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
    Xeroderma Pigmentosum

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

    Export disorders for ERCC2 gene to outside databases

    Publications
    for ERCC2 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 ERCC2 gene, integrated from 9 sources (see all 748):
    (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. (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. (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. (1990)
    4. Human Xeroderma pigmentosum group D gene encodes a DNA helicase. (PubMed id 8413672)1, 2, 3, 9 Sung P.... Prakash S. (1993)
    5. 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. (2003)
    6. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. (PubMed id 7849702)1, 2, 9 Frederick G.D.... Friedberg E.C. (1994)
    7. Mutations in the XPD gene leading to Xeroderma pigmentosum symptoms. (PubMed id 9101292)1, 2, 9 Kobayashi T.... Tanaka K. (1997)
    8. [Polymorphisms in nucleotide excision repair genes XPC and XPD and clinical responses to platinum-based chemotherapy in advanced non-small cell lung cancer] (PubMed id 16061005)1, 4, 9 Yuan P....Lin D.X. (2005)
    9. Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer. (PubMed id 15837542)1, 4, 9 Vogel U....Raaschou-Nielsen O. (2005)
    10. Associations between XRCC1 and ERCC2 polymorphisms and DNA damage in peripheral blood lymphocyte among coke oven workers. (PubMed id 15764301)1, 4, 9 Leng S....Zheng Y. (2004)

    External Searches for ERCC2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ERCC2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2068 HGNC: 3434 AceView: ERCC2 Ensembl:ENSG00000104884 euGenes: HUgn2068
    ECgene: ERCC2 Kegg: 2068 H-InvDB: ERCC2

    Other Databases showing ERCC2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ERCC2 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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/sites/GeneTests/lab/gene/ERCC2
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ercc2/

    Intellectual Property
    for ERCC2 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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



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