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

ERCC3 Gene

protein-coding   GIFtS: 70
GCID: GC02M128014

excision repair cross-complementing rodent repair deficiency,...
 Explore 34 diseases affiliated with
ERCC3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ERCC3    

Aliases
for ERCC3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 31 2
     DNA Repair Protein Complementing XP-B Cells2 3
XPB1 2 3 5     TFIIH 89 KDa Subunit2 3
BTF21 2     TFIIH Basal Transcription Factor Complex 89 KDa Subunit2 3
GTF2H1 2     TFIIH P892 3
RAD251 2     TFIIH Basal Transcription Factor Complex Helicase XPB Subunit2
TFIIH1 2     Xeroderma Pigmentosum, Complementation Group B2
Basic Transcription Factor 2 89 KDa Subunit2 3     EC 3.6.4.123
Xeroderma Pigmentosum Group B-Complementing Protein2 3     XPBC3
BTF2 P892 3     EC 3.6.18
DNA Excision Repair Protein ERCC-32 3     

External Ids:    HGNC: 34351   Entrez Gene: 20712   Ensembl: ENSG000001631617   OMIM: 1335105   UniProtKB: P194473   

Export aliases for ERCC3 gene to outside databases

Previous GC identifers: GC02M125313 GC02M125941 GC02M127919 GC02M128108 GC02M127731 GC02M120322


Summaries
for ERCC3 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 ERCC3:
ERCC3 is an ATP-dependent DNA helicase that functions in nucleotide excision repair and complements xeroderma
pigmentosum group B mutations. It also is the 89 kDa subunit of basal transcription factor 2 (TFIIH) and thus
functions in class II transcription. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447
Function: ATP-dependent 3'-5' DNA helicase, component of the core-TFIIH basal transcription factor, involved in
nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by
opening DNA either around the RNA transcription start site or the DNA damage

Gene Wiki entry for ERCC3 (XPB)


Genomic Views
for ERCC3 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_000002.11  NC_018913.1  NT_022135.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ERCC3 gene promoter:
         E2F-4   E2F-3a   Spz1   E2F-5   p53   E2F-2   CREB   E2F-1   E2F   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ERCC3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ERCC3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERCC3


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

Entrez Gene cytogenetic band: 2q21   Ensembl cytogenetic band:  2q14.3   HGNC cytogenetic band: 2q21

ERCC3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M128014:  view genomic region     (about GC identifiers)

Start:
 128,014,866 bp from pter      End:
 128,051,752 bp from pter
Size:
 36,887 bases      Orientation:
 minus strand

Proteins
for ERCC3 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: ERCC3_HUMAN, P19447 (See protein sequence)
Recommended Name: TFIIH basal transcription factor complex helicase XPB subunit  
Size: 782 amino acids; 89278 Da
Subunit: One of the 6 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. Interacts with PUF60.
Interacts with ATF7IP. Interacts with Epstein-Barr virus EBNA2
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for ERCC3:
4ERN (3D)    
Secondary accessions: Q53QM0

Explore the universe of human proteins at neXtProt for ERCC3: NX_P19447

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P19447

    • 4/29 DME Specific Peptides for ERCC3 (P19447) (see all 29)
     TELITET  EYDFRND  QFKMWST  VSVEQWK 

    ERCC3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000113.1  
    ENSEMBL proteins: 
     ENSP00000415335   ENSP00000285398   ENSP00000390888   ENSP00000408901   ENSP00000444796  
    Reactome Protein details: P19447
    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: ERCC3
    OriGene Custom Protein Services for ERCC3 
    GenScript Custom Purified and Recombinant Proteins Services for ERCC3
    Novus Biologicals ERCC3 Proteins
    Novus Biologicals ERCC3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ERCC3

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000441SSL2-core TFIIH complex IEA--
    GO:0005634nucleus TAS8663148
    GO:0005654nucleoplasm TAS--
    GO:0005675holo TFIIH complex TAS7663514


    ERCC3 for ontologies           About GeneDecksing



    ERCC3 Antibody Products: 
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    OriGene Custom Antibody Services for ERCC3 
    GenScript Custom Superior Antibodies Services for ERCC3
    Novus Biologicals ERCC3 Antibodies
    Abcam antibodies for ERCC3 
    Uscn Antibodies for ERCC3
    ThermoFisher Antibodies for ERCC3

    Assay Products for ERCC3: 
    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ERCC3
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ERCC3

    Protein Domains /
    Families
    for ERCC3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ERCC3 for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR006935 Helicase/UvrB_dom
     IPR001161 Helicase_Ercc3
     IPR014001 Helicase_ATP-bd
     IPR001650 Helicase_C

    Graphical View of Domain Structure for InterPro Entry P19447

    ProtoNet protein and cluster: P19447

    1 Blocks protein family: IPB001161 Xeroderma pigmentosum group B protein signature

    UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447
    Similarity: Belongs to the helicase family. RAD25/XPB subfamily
    Similarity: Contains 1 helicase ATP-binding domain
    Similarity: Contains 1 helicase C-terminal domain


    Function
    for ERCC3 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: ERCC3_HUMAN, P19447
    Function: ATP-dependent 3'-5' DNA helicase, component of the core-TFIIH basal transcription factor, involved in
    nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by
    opening DNA either around the RNA transcription start site or the DNA damage
    Catalytic activity: ATP + H(2)O = ADP + phosphate

         Genatlas biochemistry entry for ERCC3:
    excision repair cross-complementing rodent repair defect in CHO cells (DNA repair helicase),complementation group
    3,yeast RAD25 homolog,D discoidum REPB homolog,with mutations decreasing GTF2H activity in XPB patients

    Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121

    miRNA
    Products:            		miRTarBase miRNAs that target ERCC3:
    hsa-mir-192 (MIRT004849)

    OriGene 3'-UTR Clone: ERCC3
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERCC3
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ERCC3:
    hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmid: ERCC3 3' UTR sequence
    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 ERCC3 (see all 7)
    OriGene shRNA RFP: ERCC3
    OriGene siRNA: ERCC3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERCC3

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ERCC3

    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 ERCC3 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC3 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: ERCC3 (NM_000122)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ERCC3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC3 

    Cell Line
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    Search LifeMap BioReagents cell lines for ERCC3

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC3

    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:0003677DNA binding TAS8663148
    GO:0003684damaged DNA binding NAS2167179
    GO:0004003ATP-dependent DNA helicase activity IEA--
    GO:0004672contributes to protein kinase activity IDA9852112
    GO:0005515protein binding IPI10734143


    ERCC3 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for ERCC3:
     Decreased Tat-dependent transc  Decreased p24 protein expressi  Increased cell death HMECs cel 

    Animal Models:
         11 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ercc3):
     behavior/neurological  cellular  craniofacial  endocrine/exocrine gland  growth/size 
     integument  mortality/aging  muscle  reproductive system  skeleton 
     tumorigenesis 

    ERCC3 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ERCC3 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 - 5/17 super-pathways (see all 17) 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 ERCC3
        Transcription Ligand-Dependent Transcription of Retinoid-Target genes
    Transcription P53 signaling pathway

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ERCC3
        DNA Repair Mechanisms

    3 Cell Signaling Technology (CST) Pathways for ERCC3
        Chromatin Regulation / Acetylation
    Cell Cycle / Checkpoint Control
    DNA Damage

    2 GeneGo (Thomson Reuters) Pathways for ERCC3
        Transcription P53 signaling pathway
    Transcription Ligand-Dependent Transcription of Retinoid-Target genes

    1 BioSystems Pathway for ERCC3 
        Eukaryotic Transcription Initiation

    5/46        Reactome Pathways for ERCC3 (see all 46)
        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         Kegg Pathways  (Kegg details for ERCC3):
        Basal transcription factors
    Nucleotide excision repair


    ERCC3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERCC3

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

    5/138 Interacting proteins for ERCC3 (P194471, 2, 3 ENSP000002853984) via UniProtKB, MINT, STRING, and/or I2D (see all 138)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102752, 3, ENSP000003638224MINT-8142873 I2D: score=1 STRING: ENSP00000363822
    HIST1H2BCP628073I2D: score=1 
    HIST1H2BEP628073I2D: score=1 
    HIST1H2BFP628073I2D: score=1 
    HIST1H2BGP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000075cell cycle checkpoint IMP17088560
    GO:0000717nucleotide-excision repair, DNA duplex unwinding IMP17466626
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0001666response to hypoxia IEA--
    GO:0006200ATP catabolic process ----


    ERCC3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ERCC3 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

    ERCC3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ERCC3
    6 Novoseek chemical compound relationships for ERCC3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cpds 61.1 3 18676829 (2), 11705987 (1)
    phosphodiester 53.1 8 9256425 (2), 8631733 (2), 9405375 (1), 10872452 (1) (see all 5)
    cisplatin 28.5 9 9784390 (4), 8647649 (1)
    melphalan 11.3 1 8647649 (1)
    atp 0 14 8631733 (4), 19199647 (3), 9698541 (1), 16246722 (1) (see all 5)
    arginine 0 2 8196650 (1)

    Search CenterWatch for drugs/clinical trials and news about ERCC3 

    Transcripts
    for ERCC3 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 ERCC3 gene: 
    NM_000122.1  

    Unigene Cluster for ERCC3:

    Excision repair cross-complementing rodent repair deficiency, complementation group 3
    Hs.469872  [show with all ESTs]
    Unigene Representative Sequence: AK127469
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000426778(uc002tof.1) ENST00000285398(uc002toe.1 uc002toh.1 uc010yzh.1)
    ENST00000491292 ENST00000445889 ENST00000494464(uc010flx.1) ENST00000456257
    ENST00000460485 ENST00000462306(uc010fly.3) ENST00000490062 ENST00000493187(uc002tog.1)


    miRNA
    Products:             		 OriGene 3'-UTR Clone: ERCC3
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERCC3
    1 QIAGEN miScript miRNA Assays for microRNA that regulate ERCC3:
    hsa-let-7f-2*
    SwitchGear 3'UTR luciferase reporter plasmid: ERCC3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERCC3 (see all 7)
    OriGene shRNA RFP: ERCC3
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERCC3
    Clone
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    GenScript: all cDNA clones in your preferred vector: ERCC3 (NM_000122)
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERCC3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERCC3

    Additional cDNA sequence: 

    AK091500.1 AK095557.1 AK126697.1 AK127469.1 AK222465.1 AK290474.1 AK300250.1 AK307338.1 
    AK309405.1 BC008820.2 M31899.1 

    20 DOTS entries:

    DT.100798024  DT.316961  DT.92440532  DT.100798012  DT.100697311  DT.121016666  DT.100798025  DT.121016641 
    DT.100798014  DT.100720316  DT.100798023  DT.121016588  DT.121016643  DT.95305911  DT.121016637  DT.95150136 
    DT.95173028  DT.97852982  DT.86850901  DT.91750167 

    24/323 AceView cDNA sequences (see all 323):

    NM_000122 BM783775 BM552465 AI076193 CF125280 BM711174 BM783073 BM761907 
    CB129030 AK091500 BX345504 CA487487 BM835385 AI222871 CO247173 BP379549 
    AL527680 BM910389 BX324539 BM839876 BG394618 CR612390 CD369543 BP351207 

    GeneLoc Exon Structure

    5/25 Alternative Splicing Database (ASD) splice patterns (SP) for ERCC3 (see all 25)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b ·
    SP1:                                            -     -     -     -                                               -     -     -           -     -               
    SP2:                                                                                                              -     -     -           -     -               
    SP3:                                                              -                                               -     -     -           -     -               
    SP4:                                                                                                                                                            
    SP5:                                            -     -     -     -                 -     -                       -     -     -           -     -               

    ExUns: 9c · 9d · 9e · 9f ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^ 20 ^ 21a · 21b
    SP1:              -     -     -                                                                 -                 -           -                     
    SP2:              -     -     -                                                                 -                 -           -                     
    SP3:              -     -     -                                                                 -                 -           -                     
    SP4:                                                                                            -                 -           -                     
    SP5:              -     -     -                                                                                                                     


    ECgene alternative splicing isoforms for ERCC3

    Expression
    for ERCC3 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

    ERCC3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TACACCCGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ERCC3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERCC3

    SOURCE GeneReport for Unigene cluster: Hs.469872
        SABiosciences Expression via Pathway-Focused PCR Arrays including ERCC3: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Apoptosis 384HT in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ERCC3
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC3

    Orthologs
    for ERCC3 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 ERCC3 gene from 10/39 species (see all 39)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ercc31 , 5 excision repair cross-complementing rodent repair deficiency, complementation group 3 less1, 5 87.43(n)1
    95.91(a)1    		   18 (17.97 cM)5
    138721  NM_133658.11  NP_598419.11 
     322403005 
    chicken
    (Gallus gallus)    		 Aves ERCC31 excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) less 78.69(n)
    91.7(a)    		   424226  NM_001006523.1  NP_001006523.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ERCC36
    		 --
    		 91(a)
    		 1 ↔ 1
    		 GL343344.1(819032-841705)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BJ085418.12   -- 83.41(n)    BJ085418.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BC045400.12   -- 77.56(n)    BC045400.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta hay1 , 3 transcription initiation from Pol II
    promoter helicase less3
    haywire1    		 68(a)3
    64.64(n)1
    71.02(a)1    		   3 67E53
    392021  NM_001144459.21  NP_001137931.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y66D12A.151 , 3 Protein Y66D12A.151 63(a)3
    62.89(n)1
    66.8(a)1    		   III(11598328-11606086)3
    1765841  NM_067086.21  NP_499487.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes SSL2(YIL143C)4
    SSL21    		 Component of the holoenzyme form of RNA polymerase transcription factor TFIIH, has DNA-dependent ATPase/helicase activity and is required, with Rad3p, for unwinding promoter DNA; involved in DNA repair; homolog of human ERCC3 less4
    Ssl2p1    		 58.32(n)1
    59.14(a)1    		   9(83041-80510)4
    8546631, 4  NP_012123.11, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons XPB21 DNA repair helicase XPB2 56.94(n)
    57.81(a)    		   834138  NM_123501.2  NP_568591.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.326722 Oryza sativa (japonica cultivar-group) cDNA cloneJ033125B04, full insert sequence less 76.01(n)    AK103297.1 


    ENSEMBL Gene Tree for ERCC3 (if available)
    TreeFam Gene Tree for ERCC3 (if available) 

    Paralogs
    for ERCC3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ERCC3 gene

    ERCC3 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for ERCC3
    PGOHUM00000238419 PGOHUM00000245280


    Genomic Variants
    for ERCC3 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

    10/762 NCBI SNPs in ERCC3 are shown (see all 762)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs92826781,2
    		F--120322135(-) TGTACA/CAGTGT 1 -- int15Minor allele frequency- C:0.01MN 404
    rs18035411,2
    		C,F,H,--120322194(-) AAGGTG/ATATTT 1 -- ut3115Minor allele frequency- A:0.02NS EA NA MN 1264
    rs41505251,2
    		C,H,--120322276(-) TTTATA/GAAGGA 1 -- ut31 ese3 trp35Minor allele frequency- G:0.00NS EA 594
    rs41505241,2
    		C,F,H,--120322347(-) CAGCGT/CTGGCC 1 -- ut31 ese310Minor allele frequency- C:0.02NS NA WA 1230
    rs1133074401,2
    		F,--120322675(+) TAAGAC/TTTACA 1 -- int13Minor allele frequency- T:0.08CSA WA 122
    rs1117119421,2
    		--120323779(+) GGCCAC/TAGCCA 1 -- int12Minor allele frequency- T:0.03CSA WA 120
    rs2016171341,2
    		C--120323937(+) ACCAGC/TCACAG 1 -- int10--------
    rs41505201,2
    		C,F,--120324572(-) CATACA/GTGATC 1 -- int15Minor allele frequency- G:0.01NS NA WA 440
    rs41505191,2
    		C,F,--120324663(-) AGTCAC/ATTGTC 1 -- int11Minor allele frequency- A:0.01NS 180
    rs22765841,2
    		H--120324735(+) GGCTTC/TCAGCA 1 -- int14Minor allele frequency- T:0.00NS EA 418

    HapMap Linkage Disequilibrium report for ERCC3 (128014866 - 128051752 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ERCC3: --
    Human Gene Mutation Database (HGMD): ERCC3

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERCC3
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC3

    Disorders / Diseases
    for ERCC3 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
    ERCC3 for disorders           About GeneDecksing

    OMIM gene information: 133510   
    OMIM disorders: 610651  601675  
    UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447
  • Defects in ERCC3 are the cause of xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]; also
    • known as xeroderma pigmentosum II (XP2) or XP group B (XPB) or xeroderma pigmentosum group B combined with Cockayne
    syndrome (XP-B/CS). 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-B patients present features of Cockayne syndrome, including dwarfism,
    sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia, decreased nerve conduction
    velocities
  • Defects in ERCC3 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

    20/34 diseases for ERCC3 (see all 34):    About MalaCards
    xeroderma pigmentosum, group b    xeroderma pigmentosum    xeroderma pigmentosum, group c    photosensitive trichthiodystrophy
    cockayne syndrome    pigmentary retinopathy    autosomal recessive disease    sporadic breast cancer
    bloom syndrome    epithelial ovarian cancer    hepatitis b    skin cancer
    ovarian cancer    dwarfism    ichthyosis    down syndrome
    multiple sclerosis    hepatitis c    microcephaly    lung cancer

    3 diseases from the University of Copenhagen DISEASES database for ERCC3:
    Cockayne syndrome     Xeroderma pigmentosum     Photosensitive trichothiodystrophy

    10/19 Novoseek disease relationships for ERCC3 gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    trichothiodystrophy 96.6 21 11062469 (1), 12221129 (1), 19008953 (1), 9422774 (1) (see all 17)
    cockayne syndrome 95.3 26 16947863 (2), 12221129 (1), 1916809 (1), 8663148 (1) (see all 22)
    xeroderma pigmentosum 94.5 63 16947863 (3), 1454518 (2), 11027286 (2), 11077043 (2) (see all 47)
    group b cockayne syndrome 80.6 1 11077043 (1)
    group a cockayne syndrome 75.5 1 9774388 (1)
    xeroderma pigmentosum, complementation group d 70.3 1 15982307 (1)
    genetic disorder 64.8 8 20429618 (3), 15354295 (1), 17156731 (1), 7613092 (1) (see all 6)
    hair disorder 54.9 1 9651581 (1)
    skin cancer 53.1 6 18470933 (2), 18817897 (1)
    skin tumor 14.7 1 9427533 (1)

    GeneTests: ERCC3
    Xeroderma Pigmentosum

    Genetic Association Database (GAD): ERCC3
    Human Genome Epidemiology (HuGE) Navigator: ERCC3 (19 documents)

    Export disorders for ERCC3 gene to outside databases

    Publications
    for ERCC3 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 ERCC3 gene, integrated from 9 sources (see all 289):
    (articles sorted by number of sources associating them with ERCC3)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. (PubMed id 8304337)1, 2, 4, 9 Vermeulen W.... Weeda G. (1994)
    2. RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription. (PubMed id 8202161)1, 3, 9 Guzder S.N....Prakash S. (1994)
    3. Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population. (PubMed id 10862089)1, 2, 9 Butkiewicz D.... Chorazy M. (2000)
    4. Molecular cloning and biological characterization of the human excision repair gene ERCC-3. (PubMed id 2111438)1, 2, 9 Weeda G.... Hoeijmakers J.H.J. (1990)
    5. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. (PubMed id 9012405)1, 2, 9 Weeda G.... Sarasin A. (1997)
    6. Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH). (PubMed id 8157004)1, 2, 9 van Vuuren A.J.... Egly J.-M. (1994)
    7. MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity. (PubMed id 19106100)1, 2 Liu L....Nakao M. (2009)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer. (PubMed id 12865926)1, 4 Mort R....Melton D.W. (2003)
    10. Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7. (PubMed id 10024882)1, 2 Tirode F.... Egly J.-M. (1999)

    External Searches for ERCC3 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 ERCC3 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2071 HGNC: 3435 AceView: ERCC3 Ensembl:ENSG00000163161 euGenes: HUgn2071
    ECgene: ERCC3 Kegg: 2071 H-InvDB: ERCC3

    Other Databases showing ERCC3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ERCC3 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 ERCC3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERCC3 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/ERCC3
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ercc3/

    Intellectual Property
    for ERCC3 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ERCC3 gene:
    Search GeneIP for patents involving ERCC3

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



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