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

ERCC4 Gene

protein-coding   GIFtS: 67
GCID: GC16P014014

Excision Repair Cross-Complementing Rodent Repair Deficiency,...


(Previous symbol: XPF)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Excision Repair Cross-Complementing Rodent Repair Deficiency,
Complementation Group 41 2
     Xeroderma Pigmentosum1
XPF1 2 3 5     FANCQ2
Xeroderma Pigmentosum Group F-Complementing Protein2 3     RAD12
ERCC112 3     DNA Repair Endonuclease XPF2
DNA Excision Repair Protein ERCC-42 3     Excision-Repair, Complementing Defective, In Chinese Hamster2
DNA Repair Protein Complementing XP-F Cells2 3     Xeroderma Pigmentosum, Complementation Group F2
Complementation Group F1     EC 3.1.-.-3

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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-complementing rodent repair deficiency, complementation group 4) is a protein-coding gene. Diseases associated with ERCC4 include xeroderma pigmentosum, group f, and ercc4-related xeroderma pigmentosum, and among its related super-pathways are Global Genomic NER (GG-NER) and Nucleotide Excision Repair. GO annotations related to this gene include single-stranded DNA binding and protein C-terminus binding.

UniProtKB/Swiss-Prot: XPF_HUMAN, Q92889
Function: 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ERCC4

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

UniProtKB/Swiss-Prot: 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 EME1. 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
Subcellular location: Nucleus (Probable)
Sequence caution: Sequence=AAB07689.1; Type=Erroneous initiation;
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q92889

  • ERCC4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ERCC4 Protein Expression
    REFSEQ proteins: NP_005227.1  
    ENSEMBL proteins: 
     ENSP00000459933   ENSP00000310520   ENSP00000461883   ENSP00000461322  
    Reactome Protein details: Q92889
    Human Recombinant Protein Products for ERCC4: 
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    Novus Biologicals ERCC4 Lysate
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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

    ERCC4 for ontologies           About GeneDecksing



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


    ERCC4 for domains           About GeneDecksing


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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: XPF_HUMAN, Q92889
    Function: 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): 5/13 molecular function terms (GO ID links to tree view) (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
         
    ERCC4 for ontologies           About GeneDecksing


    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  liver/biliary system  mortality/aging 

    ERCC4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ERCC4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ERCC4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ERCC4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ERCC4 

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

    SuperPaths for ERCC4 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Global Genomic NER (GG-NER)
    Global Genomic NER (GG-NER)0.70
    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 Repair0.90
    DNA Repair0.46
    Transcription-coupled NER (TC-NER)0.90
    3Formation of RNA Pol II elongation complex
    Dual incision reaction in TC-NER0.64
    Formation of transcription-coupled NER (TC-NER) repair complex0.64
    4Ifosfamide Pathway, Pharmacodynamics
    Cyclophosphamide Pathway, Pharmacodynamics0.72
    5Chks in Checkpoint Regulation
    DNA Repair Mechanisms0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    5/8        Reactome Pathways for ERCC4 (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 PharmGKB Pathway for ERCC4
        Cyclophosphamide Pathway, Pharmacodynamics

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


    ERCC4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERCC4

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

    5/226 Interacting proteins for ERCC4 (Q928891, 2, 3 ENSP000003105204) via UniProtKB, MINT, STRING, and/or I2D (see all 226)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLX4Q8IY921, 3, ENSP000002940084EBI-2370770,EBI-2370740 I2D: score=3 STRING: ENSP00000294008
    PCNAP120042, 3, ENSP000003684384MINT-6542674 I2D: score=1 STRING: ENSP00000368438
    EEF2P136392, 3MINT-6542674 I2D: score=3 
    GCN1L1Q926162, 3MINT-6542674 I2D: score=1 
    HIST1H2BCP628073I2D: score=1 
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    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

    ERCC4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ERCC4 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about ERCC4 / XPF

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

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    8/34 QIAGEN miScript miRNA 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 

    24/64 AceView cDNA sequences (see all 64):

    BC020741 NM_005236 AA291199 AI279564 AW271424 BX503907 BM710111 BQ013114 
    AA255461 BM671280 AA829830 BE695780 AA284141 AI367240 BQ011470 AI431784 
    BV183921 AI034199 BV183923 BP346826 AI694544 CF529228 BG181154 CD674166 

    GeneLoc Exon Structure

    5/6 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™, 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

    ERCC4 expression in normal human tissues (normalized intensities)      ERCC4 embryonic expression: see
    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 
     5/23 selected tissues (see all 23) fully expand
     
     Testis (Reproductive System)    fully expand to see all 5 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
             sperm   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Breast
             breast ; adipocytes   
             MAMMARY GLAND   
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterus, pre-menopause ; glandular cells   
     
     Thyroid (Endocrine System)    fully expand to see all 2 entries
             thyroid gland ; glandular cells   

    See ERCC4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ERCC4

    SOURCE GeneReport for Unigene cluster: Hs.567265
        SABiosciences Expression via Pathway-Focused PCR Arrays including ERCC4: 
              Telomeres & Telomerase in human mouse rat
              DNA Repair in human mouse rat

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    In Situ
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    (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 ERCC4 gene from 10/23 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 80.42(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 74.76(n)
    77.61(a)
      416420  XM_414734.3  XP_414734.3 
    lizard
    (Anolis carolinensis)
    Reptilia ERCC46
    Uncharacterized protein
    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
    49.78(n)1
    43.43(a)1
      1 4B63
    313731  NM_080329.31  NP_525068.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C47D12.86
    Protein C47D12.8
    28(a)
    1 ↔ 1
    II(11696171-11705359)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RAD1(YPL022W)4
    RAD11
    Single-stranded DNA endonuclease (with Rad10p), cleaves more4
    Rad1p1
    45.89(n)1
    35.33(a)1
      16(506697-509999)4
    8560851, 4  NP_015303.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UVH11 DNA repair endonuclease UVH1 46.92(n)
    38.93(a)
      834117  NM_123480.3  NP_198931.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g01004001 hypothetical protein 47.89(n)
    38.43(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
      --

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

    10/976 SNPs in ERCC4 are shown (see all 976)    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_0348024
    XFE progeroid syndrome (XFEPS)4--see VAR_0348022 R P mis40--------
    VAR_0082014
    Xeroderma pigmentosum complementation group F (XP-F)4--see VAR_0082012 R W 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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 133520   
    OMIM disorders: 278760  610965  
    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

  • 20/49 diseases for ERCC4 (see all 49):    About MalaCards
    xeroderma pigmentosum, group f    ercc4-related xeroderma pigmentosum    xfe progeroid syndrome    xeroderma pigmentosum
    xeroderma pigmentosum, group a    acoustic neuroma    conduct disorder    neuroma
    squamous cell carcinoma of the head and neck    progeria    autosomal recessive disease    breast disease
    fanconi's anemia    follicular lymphoma    neurologic diseases    skin cancer
    dwarfism    diffuse large b-cell lymphoma    microcephaly    male infertility

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

    ERCC4 for disorders           About GeneDecksing


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

    10/11 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)
    About This Section

    PubMed articles for ERCC4 gene, integrated from 9 sources (see all 234):
    (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. (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. (1998)
    3. A novel XPF -357A>C polymorphism predicts risk and recurrence of bladder cancer. (PubMed id 20062074)1, 4, 9 Wang M....Zhang Z. (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. (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. (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. (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. (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. (1996)
    9. DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma. (PubMed id 17210993)1, 4, 9 Povey J.E....Melton D.W. (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. (2006)

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

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

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

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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/sites/GeneTests/lab/gene/ERCC4
    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.)
    About This Section
    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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