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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)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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
Xeroderma Pigmentosum Complementary Group D1 2     EM92 5
Basic Transcription Factor 2 80 KDa Subunit2 3     Complementation Group 2 Protein1
Xeroderma Pigmentosum Group D-Complementing Protein2 3     Excision Repair Cross-Complementing Rodent Repair Deficiency1
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:         
NONCODE14:n338715      

Export aliases for ERCC2 gene to outside databases

Previous GC identifers: GC19M046497 GC19M046245 GC19M050529 GC19M050546 GC19M042287


(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 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-complementing rodent repair deficiency, complementation group 2) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with ERCC2 include xeroderma pigmentosum, group d, and chromosome 19q deletion, and among its related super-pathways are Formation of HIV-1 elongation complex containing HIV-1 Tat and Global Genomic NER (GG-NER). 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
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

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for ERCC2 at MOPED 

Post-translational modifications:

  • UniProtKB: ISGylated (Probable)
  • View modification sites using PhosphoSitePlus
  • 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 MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ERCC2 Protein Expression
    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 for ERCC2: 
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    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. 

    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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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/9 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

    5/6 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


    ERCC2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/16 molecular function terms (GO ID links to tree view) (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
         
    ERCC2 for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-out Ercc2tm1Jhjh for ERCC2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ERCC2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ERCC2:
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    Inhib. RNA
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ERCC2 (NM_000400)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ERCC2 About   (see all 21)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Formation of RNA Pol II elongation complex
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    RNA Polymerase II Pre-transcription Events0.72
    RNA Pol II CTD phosphorylation and interaction with CE0.93
    Transcription of the HIV genome0.70
    mRNA Capping0.93
    RNA Polymerase II Transcription Initiation And Promoter Clearance0.67
    HIV Transcription Elongation0.78
    RNA Polymerase II HIV Promoter Escape0.67
    2Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.70
    Dual incision reaction in GG-NER0.61
    Nucleotide excision repair0.70
    Formation of incision complex in GG-NER0.61
    3RNA Polymerase I Chain Elongation
    RNA Polymerase I Promoter Clearance0.92
    RNA Polymerase I Chain Elongation0.90
    RNA Polymerase I Transcription0.92
    RNA Polymerase I Transcription Initiation0.90
    RNA Polymerase I Promoter Escape0.91
    RNA Polymerase I Transcription Termination0.90
    4HIV Life Cycle
    HIV Life Cycle0.92
    HIV Infection0.61
    Late Phase of HIV Life Cycle0.92
    5Nucleotide Excision Repair
    Nucleotide Excision Repair0.90
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90

    Pathways by source                                                                                                                                                                 See SuperPaths
    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

    5/44        Reactome Pathways for ERCC2 (see all 44)
        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
    Cytosolic Iron-sulfur Cluster Assembly

    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)

    5/212 Interacting proteins for ERCC2 (P180743 ENSP000003758094) via UniProtKB, MINT, STRING, and/or I2D (see all 212)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDX39BQ138383I2D: score=1 
    ENSG00000215425Q138383I2D: score=1 
    ENSG00000225073Q138383I2D: score=1 
    ENSG00000225859Q138383I2D: score=1 
    ENSG00000229496Q138383I2D: score=1 
    About this table

    Gene Ontology (GO): 5/48 biological process terms (GO ID links to tree view) (see all 48):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint ----
    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 ----

    ERCC2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    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 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  

    Search CenterWatch for drugs/clinical trials and news about ERCC2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    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 

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

    NM_000400 CA441707 BX103096 BI518462 CB144373 X52221 BM743465 BC008346 
    BI225966 BQ212102 BQ010191 CR613691 BM769772 BQ953731 BM784840 AW409717 
    BT006883 BX104913 BM801079 T08987 BQ064920 CF125362 AW009798 CD722527 

    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

    (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 <intensity>2/3
    CGAP TAG: GTCTTTGCCG
    ERCC2 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

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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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ERCC2 gene from 8/19 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
    66.31(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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ERCC2 gene
    1 SIMAP similar gene for ERCC2 using alignment to 8 protein entries:     ERCC2_HUMAN (see all proteins):
    BRIP1

    ERCC2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) 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

    10/819 SNPs in ERCC2 are shown (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
    ----------
    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--------
    VAR_0172854
    Xeroderma pigmentosum complementation group D (XP-D)4--see VAR_0172852 R Q mis40--------
    VAR_0172924
    Xeroderma pigmentosum complementation group D (XP-D)4--see VAR_0172922 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ERCC2
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC2

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

  • 20/132 diseases for ERCC2 (see all 132):    About MalaCards
    xeroderma pigmentosum, group d    chromosome 19q deletion    ercc2-related xeroderma pigmentosum    cerebrooculofacioskeletal syndrome 2
    beta-thalassemia - trichothiodystrophy    xeroderma pigmentosum, group b    warsaw breakage syndrome    cockayne syndrome type ii
    xeroderma pigmentosum, group g    cerebro-oculo-facio-skeletal syndrome    bladder cancer susceptibility    xeroderma pigmentosum
    esophageal adenocarcinoma    skin cancer    squamous cell carcinoma of the head and neck    barrett's adenocarcinoma
    oral leukoplakia    myoma    diffuse gastric cancer    microtia

    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

    ERCC2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/45 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

    PubMed articles for ERCC2 gene, integrated from 9 sources (see all 787):
    (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. Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. (PubMed id 11245433)1, 2, 4 Spitz M.R.... Wei Q. (2001)
    6. Association of XPD polymorphisms with prostate cancer in Taiwanese patients. (PubMed id 17695467)1, 4, 9 Bau D.T....Tsai F.J. (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. (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. (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. (1994)
    10. Decreased expression and the Lys751Gln polymorphism o f the XPD gene are associated with extreme longevity. (PubMed id 19707883)1, 4, 9 Polosak J....Puzianowska-Kuznicka M. (2009)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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/

    (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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