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ERCC4 Gene

protein-coding   GIFtS: 68
GCID: GC16P014014

Excision Repair Cross-Complementation Group 4

(Previous names: excision repair cross-complementing rodent repair deficiency,...)
(Previous symbol: XPF)
  See ERCC4-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Excision Repair Cross-Complementation Group 41 2     Complementation Group F1
XPF1 2 3 5     Xeroderma Pigmentosum1
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 41 2
     RAD12
Xeroderma Pigmentosum Group F-Complementing Protein2 3     DNA Repair Endonuclease XPF2
ERCC112 3     Excision-Repair, Complementing Defective, In Chinese Hamster2
DNA Excision Repair Protein ERCC-42 3     Xeroderma Pigmentosum, Complementation Group F2
DNA Repair Protein Complementing XP-F Cells2 3     EC 3.1.-.-3
FANCQ2 5     

External Ids:    HGNC: 34361   Entrez Gene: 20722   Ensembl: ENSG000001755957   OMIM: 1335205   UniProtKB: Q928893   

Export aliases for ERCC4 gene to outside databases

Previous GC identifers: GC16P013959 GC16P014166 GC16P013980 GC16P013922


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ERCC4 Gene:
The protein encoded by this gene forms a complex with ERCC1 and is involved in the 5' incision made during
nucleotide excision repair. This complex is a structure specific DNA repair endonuclease that interacts with
EME1. Defects in this gene are a cause of xeroderma pigmentosum complementation group F (XP-F), or xeroderma
pigmentosum VI (XP6).(provided by RefSeq, Mar 2009)

GeneCards Summary for ERCC4 Gene:
ERCC4 (excision repair cross-complementation group 4) is a protein-coding gene. Diseases associated with ERCC4 include fanconi anemia, complementation group q, and xeroderma pigmentosum, group f. GO annotations related to this gene include single-stranded DNA binding and protein C-terminus binding.

UniProtKB/Swiss-Prot: XPF_HUMAN, Q92889
Function: Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision
during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link

Gene Wiki entry for ERCC4 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000016.9  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ERCC4 gene promoter:
         AhR   c-Fos   RFX1   NF-1   p53   AP-1   Arnt   FOXO4   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidERCC4 promoter sequence
   Search Chromatin IP Primers for ERCC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ERCC4


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

Entrez Gene cytogenetic band: 16p13.12   Ensembl cytogenetic band:  16p13.12   HGNC cytogenetic band: 16p13.3

ERCC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ERCC4 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P014014:  view genomic region     (about GC identifiers)

Start:
14,014,014 bp from pter      End:
14,046,205 bp from pter
Size:
32,192 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: XPF_HUMAN, Q92889 (See protein sequence)
Recommended Name: DNA repair endonuclease XPF  
Size: 916 amino acids; 104486 Da
Cofactor: Magnesium
Subunit: Heterodimer composed of ERCC1 and XPF/ERCC4. Interacts with SLX4/BTBD12; this interaction is direct and
links the ERCC1-XPF/ERCC1 complex to SLX4, which may coordinate the action of the structure-specific endonuclease
during DNA repair
Sequence caution: Sequence=AAB07689.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
4 PDB 3D structures from and Proteopedia for ERCC4:
1Z00 (3D)        2A1J (3D)        2AQ0 (3D)        2KN7 (3D)    
Secondary accessions: A8K111 O00140 Q8TD83

Explore the universe of human proteins at neXtProt for ERCC4: NX_Q92889

Explore proteomics data for ERCC4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys753
  • Modification sites at PhosphoSitePlus

  • See ERCC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005227.1  
    ENSEMBL proteins: 
     ENSP00000459933   ENSP00000310520   ENSP00000461883   ENSP00000461322  
    Reactome Protein details: Q92889

    ERCC4 Human Recombinant Protein Products:

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    Novus Biologicals ERCC4 Lysate
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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for ERCC4

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR006167 Rad1
     IPR011335 Restrct_endonuc-II-like
     IPR020819 DNA_repair_nuc_XPF/helicase
     IPR006166 ERCC4_domain
     IPR010994 RuvA_2-like

    Graphical View of Domain Structure for InterPro Entry Q92889

    ProtoNet protein and cluster: Q92889

    1 Blocks protein domain: IPB006166 ERCC4 domain

    UniProtKB/Swiss-Prot: XPF_HUMAN, Q92889
    Similarity: Belongs to the XPF family
    Similarity: Contains 1 ERCC4 domain


    Find genes that share domains with ERCC4           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XPF_HUMAN, Q92889
    Function: Catalytic component of a structure-specific DNA repair endonuclease responsible for the 5-prime incision
    during DNA repair. Involved in homologous recombination that assists in removing interstrand cross-link

         Genatlas biochemistry entry for ERCC4:
    excision repair 103 kDa,single strand DNA endonuclease,cross-complementing rodent repair defect in CHO
    cells,complementation group 4 and group 11,yeast RAD1 homolog,same as ERCC11,homologous with eukaryotic DNA
    repair and recombination proteins MEI-9 from Drosophila,RAD16 S pombe,RAD1 S cerevisiae

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

         Gene Ontology (GO): Selected molecular function terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000014single-stranded DNA endodeoxyribonuclease activity IBA--
    GO:0001094TFIID-class transcription factor binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding ----
    GO:0003684damaged DNA binding IMP11790111
         
    Find genes that share ontologies with ERCC4           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ERCC4:
     Decreased TP53 protein express  Increased gamma-H2AX phosphory 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ercc4):
     cellular  growth/size/body  liver/biliary system  mortality/aging 

    Find genes that share phenotypes with ERCC4           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ERCC4

    miRNA
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    miRTarBase miRNAs that target ERCC4:
    hsa-mir-192-5p (MIRT006456)

    Block miRNA regulation of human, mouse, rat ERCC4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ERCC4 (see all 34):
    hsa-miR-300 hsa-let-7d hsa-miR-3616-5p hsa-let-7g hsa-miR-298 hsa-let-7a hsa-miR-4280 hsa-miR-98
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    XPF_HUMAN, Q92889: Nucleus (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000109nucleotide-excision repair complex IDA10644440
    GO:0000110nucleotide-excision repair factor 1 complex IDA10413517
    GO:0000781chromosome, telomeric region IDA14690602
    GO:0000784nuclear chromosome, telomeric region IDA14690602
    GO:0005634nucleus IDA12571280

    Find genes that share ontologies with ERCC4           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ERCC4 About    
    See pathways by source

    SuperPathContained pathways About
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.69
    Formation of incision complex in GG-NER0.62
    Nucleotide excision repair0.69
    Nucleotide Excision Repair Pathway0.48
    Dual incision reaction in GG-NER0.62
    2DNA Repair
    Transcription-coupled NER (TC-NER)0.90
    Dual incision reaction in TC-NER0.65
    Nucleotide Excision Repair0.90
    DNA Repair0.45
    Formation of transcription-coupled NER (TC-NER) repair complex0.65
    3Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32
    4Fanconi anemia pathway (KEGG)
    Fanconi anemia pathway
    5Cyclophosphamide Pathway, Pharmacodynamics
    Cyclophosphamide Pathway, Pharmacodynamics


    Find genes that share SuperPaths with ERCC4           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ERCC4
        DNA Repair Mechanisms
    Nucleotide Excision Repair Pathway

    4 Reactome Pathways for ERCC4
        Formation of transcription-coupled NER (TC-NER) repair complex
    Dual incision reaction in TC-NER
    Formation of incision complex in GG-NER
    Dual incision reaction in GG-NER

    1 PharmGKB Pathway for ERCC4
        Cyclophosphamide Pathway, Pharmacodynamics

    2 Kegg Pathways  (Kegg details for ERCC4):
        Nucleotide excision repair
    Fanconi anemia pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC4: 
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ERCC4

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

    Selected Interacting proteins for ERCC4 (Q928891, 2, 3 ENSP000003105204) via UniProtKB, MINT, STRING, and/or I2D (see all 323)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EEF2P136392, 3, ENSP000003079404MINT-6542674 I2D: score=3 STRING: ENSP00000307940
    SLX4Q8IY921, 3, ENSP000002940084EBI-2370770,EBI-2370740 I2D: score=3 STRING: ENSP00000294008
    PCNAP120042, 3, ENSP000003684384MINT-6542674 I2D: score=1 STRING: ENSP00000368438
    XPCQ018312, 3, ENSP000002850214MINT-7263772 I2D: score=1 STRING: ENSP00000285021
    GCN1L1Q926162, 3MINT-6542674 I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000710meiotic mismatch repair IBA--
    GO:0000712resolution of meiotic recombination intermediates IBA--
    GO:0000718nucleotide-excision repair, DNA damage removal TAS--
    GO:0000723telomere maintenance IMP14690602
    GO:0000724double-strand break repair via homologous recombination IMP14728600

    Find genes that share ontologies with ERCC4           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ERCC4 (XPF)

    1 HMDB Compound for ERCC4    About this table
    CompoundSynonyms CAS #PubMed Ids
    MagnesiumMagnesium (see all 2)7439-95-4--

    8 Novoseek inferred chemical compound relationships for ERCC4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    psoralen 46.3 6 14728600 (3), 11790111 (2), 11884621 (1)
    mitomycin c 41.9 10 9862190 (4), 14729965 (1), 9088342 (1), 19217883 (1)
    cisplatin 35.5 11 20372803 (5), 8647649 (1), 15095299 (1), 19434073 (1)
    melphalan 33.9 1 8647649 (1)
    thymidylate 21.4 1 16243820 (1)
    5fluorouracil 8.88 2 15837757 (1), 16243820 (1)
    thymidine 3.38 1 16243820 (1)
    cyclophosphamide 0 1 8765433 (1)



    Find genes that share compounds with ERCC4           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ERCC4 gene: 
    NM_005236.2  

    Unigene Cluster for ERCC4:

    Excision repair cross-complementing rodent repair deficiency, complementation group 4
    Hs.567265  [show with all ESTs]
    Unigene Representative Sequence: NM_005236
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000575156(uc010bva.3) ENST00000311895(uc002dce.2 uc010uyz.1)
    ENST00000576348 ENST00000574194 ENST00000574781 ENST00000389138 ENST00000573018
    ENST00000462862
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ERCC4 (see all 34):
    hsa-miR-300 hsa-let-7d hsa-miR-3616-5p hsa-let-7g hsa-miR-298 hsa-let-7a hsa-miR-4280 hsa-miR-98
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    Additional mRNA sequence: 

    AK289726.1 AK301930.1 AK308341.1 BC020741.1 BC142631.1 U64315.1 

    8 DOTS entries:

    DT.112251  DT.40199428  DT.456350  DT.102823500  DT.112253  DT.120681599  DT.40129450  DT.86841601 

    Selected AceView cDNA sequences (see all 64):

    AA284141 BM671280 AI279564 NM_005236 AA291199 BX503907 BE695780 AA829830 
    BM710111 AW271424 BQ013114 BC020741 AA255461 BV183270 BV183921 CB956135 
    AI653508 AI962974 AA256859 AI034199 AV715933 AI694544 BG181154 BV183922 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ERCC4 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for ERCC4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ERCC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGGACTGAA
    ERCC4 Expression
    About this image


    ERCC4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
     
     Neural Tube (Nervous System)
             Primitive Spinal Cord
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ERCC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ERCC4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.567265
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ERCC4: 
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC4

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ERCC4 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ercc41 , 5 excision repair cross-complementing rodent repair deficiency, more1, 5 80.49(n)1
    86.14(a)1
      16 (8.93 cM)5
    505051  NM_015769.21  NP_056584.21 
     131096845 
    chicken
    (Gallus gallus)
    Aves ERCC41 excision repair cross-complementing rodent repair deficiency, more 74.52(n)
    77.56(a)
      416420  XM_414734.4  XP_414734.3 
    lizard
    (Anolis carolinensis)
    Reptilia ERCC46
    excision repair cross-complementing rodent repair ...
    74(a)
    1 ↔ 1
    GL343649.1(284899-298558)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.152542 Transcribed sequence with moderate similarity to protein more 73.69(n)    BX718303.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi03a052 wufi03a05 73.85(n)   327322  BC054895.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mei-91 , 3 chromosome segregation3
    meiotic 91
    40(a)3
    50.94(n)1
    44.87(a)1
      1 4B63
    313731  NM_080329.31  NP_525068.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C47D12.86
    Protein C47D12.8 (C47D12.8) mRNA, complete cds
    29(a)
    1 ↔ 1
    II(11696171-11705359) WBGene00008140
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD1(YPL022W)4
    RAD11
    Single-stranded DNA endonuclease (with Rad10p), cleaves more4
    RAD11
    46.55(n)1
    37.12(a)1
      16(506697-509999)4
    8560851, 4  NP_015303.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UVH11 UVH1 49.73(n)
    44.04(a)
      834117  NM_123480.3  NP_198931.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g01004001 Os03g0100400 48.83(n)
    40.89(a)
      4331279  NM_001055180.1  NP_001048645.1 


    ENSEMBL Gene Tree for ERCC4 (if available)
    TreeFam Gene Tree for ERCC4 (if available)

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

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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ERCC4 (see all 980)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0082034
    Xeroderma pigmentosum complementation group F (XP-F)4--see VAR_0082032 E K mis40--------
    VAR_0082004
    Xeroderma pigmentosum complementation group F (XP-F)4--see VAR_0082002 I M mis40--------
    VAR_0133984
    Xeroderma pigmentosum complementation group F (XP-F)4--see VAR_0133982 L P mis40--------
    VAR_0082064
    Xeroderma pigmentosum complementation group F (XP-F)4--see VAR_0082062 T A mis40--------
    VAR_0082054
    Xeroderma pigmentosum complementation group F (XP-F)4--see VAR_0082052 I T mis40--------
    VAR_0058504
    Xeroderma pigmentosum complementation group F (XP-F)4--see VAR_0058502 R W mis40--------
    VAR_0082044
    Xeroderma pigmentosum complementation group F (XP-F)4--see VAR_0082042 G R mis40--------
    VAR_0082024
    Xeroderma pigmentosum complementation group F (XP-F)4--see VAR_0082022 R Q mis40--------
    VAR_0700894
    Fanconi anemia complementation group Q (FANCQ)4--see VAR_0700892 R S mis40--------
    VAR_0700864
    Fanconi anemia complementation group Q (FANCQ)4--see VAR_0700862 L P mis40--------

    HapMap Linkage Disequilibrium report for ERCC4 (14014014 - 14046205 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ERCC4: --
    Human Gene Mutation Database (HGMD): ERCC4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ERCC4
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 133520   
    OMIM disorders: 278760  610965  615272  
    UniProtKB/Swiss-Prot: XPF_HUMAN, Q92889
  • Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]: 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. XP-F patients show a mild phenotype. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • XFE progeroid syndrome (XFEPS) [MIM:610965]: A syndrome characterized by aged bird-like facies, lack of
    subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth,
    learning disabilities, hearing loss, and visual impairment. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760]: A variant form of Cockayne
    syndrome, a disorder characterized by growth retardation, microcephaly, impairment of nervous system development,
    pigmentary retinopathy, peculiar facies, and progeria together with abnormal skin photosensitivity. Cockayne
    syndrome dermatological features are milder than those in xeroderma pigmentosum and skin cancers are not found in
    affected individuals. XPF/CS patients, however, present with severe skin phenotypes, including severe
    photosensitivity, abnormal skin pigmentation, and skin cancer predisposition. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Fanconi anemia complementation group Q (FANCQ) [MIM:615272]: A disorder affecting all bone marrow
    elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb
    malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the
    cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased
    chromosome breakage) and defective DNA repair. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 10 diseases for ERCC4:    
    About MalaCards
    fanconi anemia, complementation group q    xeroderma pigmentosum, group f    ercc4-related xeroderma pigmentosum    xeroderma pigmentosum, type f/cockayne syndrome
    xfe progeroid syndrome    xeroderma pigmentosum    fanconi anemia, complementation group c    cockayne syndrome type ii
    cockayne syndrome    photosensitive trichothiodystrophy

    5 diseases from the University of Copenhagen DISEASES database for ERCC4:
    Xeroderma pigmentosum     Fanconi's anemia     Cockayne syndrome     Photosensitive trichothiodystrophy
    Cancer

    Find genes that share disorders with ERCC4           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ERCC4 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xeroderma pigmentosum 88.1 13 20062074 (1), 20101267 (1), 9579555 (1), 10873627 (1) (see all 13)
    xp, group f 87.6 1 15336632 (1)
    fanconis anemia 54.5 3 12571280 (1), 11884621 (1)
    cancer 34.5 6 20372803 (2), 16315315 (1), 15095299 (1), 16103444 (1) (see all 5)
    cancer lung 28.8 11 18068852 (3), 16550608 (2), 18709642 (1), 19297315 (1)
    bladder cancer 14.1 6 20062074 (4), 16537713 (1)
    prostate cancer 13.8 1 19902366 (1)
    carcinoma squamous cell 11.3 1 20372803 (1)
    adenocarcinoma 8.5 2 16892554 (1), 16243820 (1)
    breast cancer 0 5 15886521 (3), 17932351 (1), 16823510 (1)

    GeneTests: ERCC4
    GeneReviews: ERCC4
    Genetic Association Database (GAD): ERCC4
    Human Genome Epidemiology (HuGE) Navigator: ERCC4 (79 documents)

    Export disorders for ERCC4 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)
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    PubMed articles for ERCC4 gene, integrated from 10 sources (see all 240):
    (articles sorted by number of sources associating them with ERCC4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. (PubMed id 8887684)1, 2, 3, 9 Brookman K.W.... Thompson L.H. (Mol. Cell. Biol. 1996)
    2. Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. (PubMed id 9579555)1, 2, 3, 9 Sijbers A.M.... Kleijer W.J. (J. Invest. Dermatol. 1998)
    3. A novel XPF -357A&gt;C polymorphism predicts risk and recurrence of bladder cancer. (PubMed id 20062074)1, 4, 9 Wang M....Zhang Z. (Oncogene 2010)
    4. Polymorphisms in the DNA repair genes XPD (ERCC2) and XPF (ERCC4) are not associated with sporadic late-onset Alzheimer's disease. (PubMed id 16806697)1, 4, 9 Dogru-Abbasoglu S....Uysal M. (Neurosci. Lett. 2006)
    5. Polymorphisms in excision repair cross-complementing group 4 (ERCC4) and susceptibility to primary lung cancer in a Chinese Han population. (PubMed id 18068852)1, 4, 9 Shao M....Lu D. (Lung Cancer 2008)
    6. Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer. (PubMed id 15886521)1, 4, 9 Lee S.A....Kang D. (amp 2005)
    7. Characterization of molecular defects in Xeroderma pigmentosum group F in relation to its clinically mild symptoms. (PubMed id 9580660)1, 2, 9 Matsumura Y.... Takebe H. (Hum. Mol. Genet. 1998)
    8. Xeroderma pigmentosum group F caused by a defect in a structure- specific DNA repair endonuclease. (PubMed id 8797827)1, 2, 9 Sijbers A.M....Wood R.D. (Cell 1996)
    9. DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma. (PubMed id 17210993)1, 4, 9 Povey J.E....Melton D.W. (Carcinogenesis 2007)
    10. Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study for metabolic and DNA repair gene polymorphisms. (PubMed id 16393248)1, 4, 9 Sugimura T....Ishizaki K. (amp 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2072 HGNC: 3436 AceView: ERCC4 Ensembl:ENSG00000175595 euGenes: HUgn2072
    ECgene: ERCC4 Kegg: 2072 H-InvDB: ERCC4

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ERCC4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ERCC4 Genetics and Cytogenetics in Oncology and Haematology
    Allelic variations of the XP geneshttp://www.xpmutations.org/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ERCC4[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/ercc4/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ERCC4 gene:
    Search GeneIP for patents involving ERCC4

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



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