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

ERCC5 Gene

protein-coding   GIFtS: 64
GCID: GC13P103497

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

(Previous names: xeroderma pigmentosum, complementation group G )
(Previous symbols: ERCM2, XPGC)
 Explore 63 diseases affiliated with
ERCC5 via
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 Human Malady Compendium 
Biological research products
for ERCC5    

Aliases
for ERCC5 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 51 2
     COFS32 5
ERCM21 2 3     UVDR2
XPGC1 2 3     DNA Repair Protein Complementing XP-G Cells2
XPG2 3 5     XPG-Complementing Protein2
Xeroderma Pigmentosum, Complementation Group G1 2     EC 3.1.-.-3
DNA Excision Repair Protein ERCC-52 3     Xeroderma Pigmentosum Group G-Complementing Protein3

External Ids:    HGNC: 34371   Entrez Gene: 20732   Ensembl: ENSG000001348997   OMIM: 1335305   UniProtKB: P287153   

Export aliases for ERCC5 gene to outside databases

Previous GC identifers: GC13P101858 GC13P097885 GC13P102334 GC13P101196 GC13P102296 GC13P084090 GC13P103459


Summaries
for ERCC5 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 ERCC5:
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following
UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II
transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum
complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder
characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV
exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental
retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM
(basic, immunoglobulin-like variable motif containing) gene. (provided by RefSeq, Feb 2011)

UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715
Function: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in
DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from
DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase
II, and perhaps in other processes too

Gene Wiki entry for ERCC5


Genomic Views
for ERCC5 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_000013.10  NC_018924.1  NT_009952.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ERCC5 gene promoter:
         Nkx3-1   C/EBPbeta   Nkx3-1 v4   p53   Nkx3-1 v1   HNF-1A   AREB6   Nkx3-1 v2   HNF-1   Nkx3-1 v3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ERCC5 promoter sequence
   Search SABiosciences Chromatin IP Primers for ERCC5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERCC5


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

Entrez Gene cytogenetic band: 13q33   Ensembl cytogenetic band:  13q33.1   HGNC cytogenetic band: 13q22-q34

ERCC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC5 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P103497:  view genomic region     (about GC identifiers)

Start:
 103,497,194 bp from pter      End:
 103,528,345 bp from pter
Size:
 31,152 bases      Orientation:
 plus strand

Proteins
for ERCC5 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: ERCC5_HUMAN, P28715 (See protein sequence)
Recommended Name: DNA repair protein complementing XP-G cells  
Size: 1186 amino acids; 133108 Da
Cofactor: Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme. May
bind an additional third magnesium ion after substrate binding (By similarity)
Subunit: Interacts with PCNA
Subcellular location: Nucleus
Secondary accessions: A6NGT4 Q5JUS4 Q5JUS5 Q7Z2V3 Q8IZL6 Q8N1B7 Q9HD59
Alternative splicing: 2 isoforms:  P28715-1   P28715-2   

Explore the universe of human proteins at neXtProt for ERCC5: NX_P28715

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P28715

    • ERCC5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000114.2  
    ENSEMBL proteins: 
     ENSP00000347978   ENSP00000436083   ENSP00000365121   ENSP00000442117  
    Reactome Protein details: P28715
    Human Recombinant Protein Products: 
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    Uscn Proteins for ERCC5

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA8710877
    GO:0005654nucleoplasm TAS--
    GO:0005675colocalizes with holo TFIIH complex IDA11259578
    GO:0016591colocalizes with DNA-directed RNA polymerase II, holoenzyme IDA16246722


    ERCC5 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ERCC5

    Protein Domains /
    Families
    for ERCC5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ERCC5 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR006084 XPG/Rad2
     IPR006086 XPG-I_dom
     IPR006085 XPG_DNA_repair_N
     IPR001044 XPG/Rad2_eukaryotes
     IPR019974 XPG_CS

    Graphical View of Domain Structure for InterPro Entry P28715

    ProtoNet protein and cluster: P28715

    3 Blocks protein families:
    IPB001044 Xeroderma pigmentosum group G protein signature
    IPB006084 Xeroderma pigmentosum group G/yeast RAD superfamily signature
    IPB008918 Helix-hairpin-helix motif


    UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715
    Similarity: Belongs to the XPG/RAD2 endonuclease family. XPG subfamily


    Function
    for ERCC5 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: ERCC5_HUMAN, P28715
    Function: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3'incision in
    DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from
    DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase
    II, and perhaps in other processes too

         Genatlas biochemistry entry for ERCC5:
    excision repair cross-complementing rodent repair defect in CHO cells,complementation group 5,yeast RAD2 homolog (see
    XPG),deleted in metastatic prostate carcinomas

    Enzyme Number (IUBMB): EC 3.1.-.-1

    miRNA
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    hsa-miR-590-3p hsa-miR-664
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene shRNA RFP: ERCC5
    OriGene siRNA: ERCC5
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000405bubble DNA binding IDA16246722
    GO:0003690double-stranded DNA binding IDA8090225
    GO:0003697single-stranded DNA binding IDA12644470
    GO:0004519endonuclease activity TAS--
    GO:0004520endodeoxyribonuclease activity IDA12644470


    ERCC5 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ERCC5:
     Increased cell death HMECs cel 

    Animal Models:
         Mouse knock-outs for ERCC5: Ercc5tm3Shm Ercc5tm1Shm Ercc5tm2Shm
         8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Ercc5):
     digestive/alimentary  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  liver/biliary system  mortality/aging 

    ERCC5 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ERCC5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Global Genomic NER (GG-NER)
    		Global Genomic NER (GG-NER)1.00
    		Formation of incision complex in GG-NER0.61
    		Nucleotide excision repair0.70
    		Nucleotide Excision Repair Pathway0.49
    		Dual incision reaction in GG-NER0.61
    2Nucleotide Excision Repair
    		Nucleotide Excision Repair1.00
    		DNA Repair0.46
    		Transcription-coupled NER (TC-NER)0.90
    3Formation of RNA Pol II elongation complex
    		Dual incision reaction in TC-NER0.46
    		Formation of transcription-coupled NER (TC-NER) repair complex0.46
    4Chks in Checkpoint Regulation
    		DNA Repair Mechanisms0.32

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ERCC5
        DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway

    5/8        Reactome Pathways for ERCC5 (see all 8)
        DNA Repair
    Transcription-coupled NER (TC-NER)
    Formation of transcription-coupled NER (TC-NER) repair complex
    Dual incision reaction in TC-NER
    Global Genomic NER (GG-NER)


    1         Kegg Pathway  (Kegg details for ERCC5):
        Nucleotide excision repair


    ERCC5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERCC5

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

    5/59 Interacting proteins for ERCC5 (P287152, 3 ENSP000003479784) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EWSR1Q018442, 3, ENSP000003810314MINT-2858666 I2D: score=2 STRING: ENSP00000381031
    ERCC2P180743, ENSP000003758094I2D: score=4 STRING: ENSP00000375809
    ERCC3P194473, ENSP000002853984I2D: score=3 STRING: ENSP00000285398
    NTHL1P785493, ENSP000002190664I2D: score=3 STRING: ENSP00000219066
    PCNAP120043, ENSP000003684384I2D: score=3 STRING: ENSP00000368438
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0006281DNA repair TAS--
    GO:0006283transcription-coupled nucleotide-excision repair TAS--
    GO:0006289nucleotide-excision repair TAS--
    GO:0006295nucleotide-excision repair, DNA incision, 3'-to lesion IMP7657672


    ERCC5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ERCC5 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

    ERCC5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ERCC5
    8 Novoseek chemical compound relationships for ERCC5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thymine glycol 77.2 11 10766805 (2), 9927729 (2), 11554293 (1)
    irofulven 67.3 3 15328203 (3)
    ecteinascidin 743 57.1 4 11479630 (2), 15328203 (1)
    cisplatin 29.7 2 15328203 (1), 16849332 (1)
    phosphodiester 25.2 2 9188507 (1)
    oligonucleotide 0 1 8090225 (1)
    atp 0 3 9618470 (1), 11141066 (1), 16246722 (1)
    histidine 0 2 10517877 (1), 11228268 (1)

    Search CenterWatch for drugs/clinical trials and news about ERCC5 

    Transcripts
    for ERCC5 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 ERCC5 gene: 
    NM_000123.3  

    Unigene Cluster for ERCC5:

    Excision repair cross-complementing rodent repair deficiency, complementation group 5
    Hs.258429  [show with all ESTs]
    Unigene Representative Sequence: NM_001204425
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355739(uc001vpu.2 uc010tjb.2 uc001vpw.3 uc010tjc.1 uc010tjd.1)
    ENST00000472151 ENST00000375958 ENST00000375954 ENST00000481099 ENST00000472247
    ENST00000535557

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    hsa-miR-590-3p hsa-miR-664
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF462447.1 AK294708.1 AK299758.1 BC031522.2 BX647399.1 D16305.1 L20046.1 X69978.1 

    11 DOTS entries:

    DT.117699  DT.100684017  DT.40284853  DT.92431332  DT.117701  DT.86843311  DT.120788615  DT.95335234 
    DT.95374634  DT.100711460  DT.91698693 

    9 AceView cDNA sequences:

    AA708780 AW404132 AW574626 AA708523 BQ067419 BQ707436 BF908784 AA161242 
    AA521132 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ERCC5 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for ERCC5

    Expression
    for ERCC5 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

    ERCC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGGTGGATTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See ERCC5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERCC5

    SOURCE GeneReport for Unigene cluster: Hs.258429
        SABiosciences Expression via Pathway-Focused PCR Arrays including ERCC5: 
              Cancer PathwayFinder in human mouse rat
              DNA Repair in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    Orthologs
    for ERCC5 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 ERCC5 gene from 9/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ercc51 , 5 excision repair cross-complementing rodent repair deficiency, more1, 5 75.75(n)1
    69.72(a)1    		   1 (23.55 cM)5
    225921  NM_011729.21  NP_035859.21 
     441478475 
    chicken
    (Gallus gallus)    		 Aves ERCC51 excision repair cross-complementing rodent repair deficiency, more 63.64(n)
    59.43(a)    		   428019  NM_001034823.1  NP_001029995.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ERCC56
    		 --
    		 28(a)
    		 1 ↔ 1
    		 3(101079517-101089619)
    African clawed frog
    (Xenopus laevis)    		 Amphibia XPGC2 XP-G related factor 75.14(n)    X69977.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii ercc51 excision repair cross-complementing rodent repair deficiency, more 53.92(n)
    51.63(a)    		   541502  XM_003197605.1  XP_003197653.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta mus2013
    Chrac-141    		 base-excision repair single-stranded DNA
    specific more3
    CG13399-PA1    		 41(a)3
    46.08(n)1
    33.62(a)1    		   37723291  NM_001032059.11  NP_001027230.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes RAD21 Rad2p 46.28(n)
    33.09(a)    		   853174   NP_011774.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons UVH36
    		 DNA repair protein UVH3
    		 16(a)
    		 1 ↔ 1
    		 3(10424253-10431204)
    rice
    (Oryza sativa)    		 Liliopsida --
    		 flap endonuclease, putative, expressed
    		 14(a)
    		 1 ↔ 1
    		 3(5507792-5515943)


    ENSEMBL Gene Tree for ERCC5 (if available)
    TreeFam Gene Tree for ERCC5 (if available) 

    Paralogs
    for ERCC5 gene

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

    Genomic Variants
    for ERCC5 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

    10/602 NCBI SNPs in ERCC5 are shown (see all 602)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 13 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1214345761,2
    		Cpathogenic101802750(+) TAACCA/GCCATG 2 T A mis10--------
    rs1214345721,2
    		C,pathogenic101809328(+) ACATCC/TGAAGG 2 R * stg10--------
    rs1143837661,2
    		C,F,--84088604(+) GTGAAC/TCATCT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs801513441,2
    		C,F,--84088659(+) GAGCAC/TGGTGG 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs41502461,2
    		C,F,--84090125(+) TTCCAG/AGCTGC 1 -- us2k1 ese34Minor allele frequency- A:0.03NS NA WA EA 362
    rs41502471,2
    		C,F,A,--84090144(+) AAGAAT/CGCGCC 1 -- us2k1 ese32Minor allele frequency- C:0.10NS NA 236
    rs561112501,2
    		F,--84090298(+) CAAGGC/TATCAC 1 -- us2k12Minor allele frequency- T:0.01WA EA 238
    rs169606191,2
    		C,F,--84090398(+) TATTAG/CACGGA 1 -- us2k1 ese34Minor allele frequency- C:0.02NA WA 260
    rs741096901,2
    		C,--84090404(+) ACGGAA/CACCGA 1 -- us2k12Minor allele frequency- C:0.12WA 120
    rs22961471,2
    		C,F,O,A,H,--84090602(+) GGACCT/CGTCTT 1 -- ut5134Minor allele frequency- C:0.22EA NA NS MN CSA WA 5104

    HapMap Linkage Disequilibrium report for ERCC5 (103497194 - 103528345 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ERCC5: --
    Human Gene Mutation Database (HGMD): ERCC5

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERCC5
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC5

    Disorders / Diseases
    for ERCC5 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
    ERCC5 for disorders           About GeneDecksing

    OMIM gene information: 133530   
    OMIM disorders: 278780  
    UniProtKB/Swiss-Prot: ERCC5_HUMAN, P28715
  • Defects in ERCC5 are the cause of xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]; also
    • known as xeroderma pigmentosum VII (XP7). 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-G patients present features of Cockayne syndrome,
    including dwarfism, sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia,
    decreased nerve conduction velocities

    20/63 diseases for ERCC5 (see all 63):    About MalaCards
    xeroderma pigmentosum    cockayne syndrome    xeroderma pigmentosum, group g    skin cancer
    xeroderma pigmentosum, group c    diffuse large b-cell lymphoma    photosensitive trichthiodystrophy    cerebrooculofacioskeletal syndrome
    cerebrooculofacioskeletal syndrome 3    b-cell lymphomas    acoustic neuroma    mutagen sensitivity
    non-hodgkin lymphoma    soft tissue sarcoma    pigmentary retinopathy    neuroma
    female breast cancer    hodgkin's lymphoma    transitional cell carcinoma    ataxia telangiectasia

    4 diseases from the University of Copenhagen DISEASES database for ERCC5:
    Xeroderma pigmentosum     Cockayne syndrome     Photosensitive trichothiodystrophy     Xanthogranulomatous pyelonephritis

    10/12 Novoseek disease relationships for ERCC5 gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum, complementation group g 95.3 7 7951246 (1), 10395909 (1), 17208056 (1), 10766805 (1) (see all 5)
    xeroderma pigmentosum 93.9 32 11479630 (2), 11841555 (2), 7510366 (2), 7951246 (1) (see all 24)
    cockayne syndrome 93.6 20 9864391 (2), 16246722 (2), 8855246 (1), 16167068 (1) (see all 12)
    trichothiodystrophy 82.6 1 11104904 (1)
    cofs syndrome 80.3 2 11443545 (1)
    genetic disorder 14.6 1 11479630 (1)
    cancer lung 13.3 9 12869423 (3), 16550608 (2), 14694596 (1), 19289372 (1)
    cancer 11.3 2 12869423 (1), 11479630 (1)
    growth retardation 8.47 1 15082767 (1)
    tumors 0 4 8703115 (1), 10517877 (1), 15328203 (1), 19157633 (1)

    GeneTests: ERCC5
    Xeroderma Pigmentosum

    Genetic Association Database (GAD): ERCC5
    Human Genome Epidemiology (HuGE) Navigator: ERCC5 (112 documents)

    Export disorders for ERCC5 gene to outside databases

    Publications
    for ERCC5 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 ERCC5 gene, integrated from 9 sources (see all 262):
    (articles sorted by number of sources associating them with ERCC5)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization. (PubMed id 8088806)1, 2, 3 Samec S....Clarkson S.G. (1994)
    2. An ERCC5 gene with homology to yeast RAD2 is involved in group G Xeroderma pigmentosum. (PubMed id 7510366)1, 2, 9 Shiomi T.... Yamaizumi M. (1994)
    3. Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe. (PubMed id 8413238)1, 2, 9 Macinnes M.A....Yu J.Y. (1993)
    4. The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. (PubMed id 11841555)1, 2, 9 Lalle P.... Clarkson S.G. (2002)
    5. XPG protein has a structure-specific endonuclease activity. (PubMed id 7651464)1, 2, 9 Cloud K.G.... Park M.S. (1995)
    6. Relationship between XPG codon 1104 polymorphism and risk of primary lung cancer. (PubMed id 12869423)1, 4, 9 Jeon H.S....Park J.Y. (2003)
    7. Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. (PubMed id 7951246)1, 2, 9 Nouspikel T. and Clarkson S.G. (1994)
    8. The XPG story. (PubMed id 14726017)1, 2, 9 Clarkson S.G. (2003)
    9. Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. (PubMed id 11228268)1, 2, 9 Zafeiriou D.I.... Clarkson S.G. (2001)
    10. Isolation of active recombinant XPG protein, a human DNA repair endonuclease. (PubMed id 8206890)1, 2, 9 O'Donovan A.... Wood R.D. (1994)

    External Searches for ERCC5 gene

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

    Genome Databases showing ERCC5 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 2073 HGNC: 3437 AceView: ERCC5.1 Ensembl:ENSG00000134899 euGenes: HUgn2073
    ECgene: ERCC5 Kegg: 2073 H-InvDB: ERCC5

    Other Databases showing ERCC5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ERCC5 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 ERCC5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERCC5 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/ERCC5
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ercc5/

    Intellectual Property
    for ERCC5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for ERCC5 gene:
    Search GeneIP for patents involving ERCC5

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



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