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

ERCC4 Gene

protein-coding   GIFtS: 65
GCID: GC16P014014

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


(Previous symbol: XPF)
 Explore 56 diseases affiliated with
ERCC4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ERCC4    

Aliases
for ERCC4 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 41 2
     DNA Repair Protein Complementing XP-F Cells2 3
XPF1 2 3 5     DNA Repair Endonuclease XPF2
RAD11 2     Excision-Repair, Complementing Defective, In Chinese Hamster2
Xeroderma Pigmentosum Group F-Complementing Protein2 3     Xeroderma Pigmentosum, Complementation Group F2
ERCC112 3     EC 3.1.-.-3
DNA Excision Repair Protein ERCC-42 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


Summaries
for ERCC4 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 ERCC4:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
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 plasmid: ERCC4 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

Proteins
for ERCC4 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: 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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92889

    • ERCC4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005227.1  
    ENSEMBL proteins: 
     ENSP00000459933   ENSP00000310520   ENSP00000461883   ENSP00000461322  
    Reactome Protein details: Q92889
    Human Recombinant Protein Products: 
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    Browse Sino Biological Recombinant Proteins
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    Uscn Proteins for ERCC4

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    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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    Uscn Antibodies for ERCC4
    ThermoFisher Antibodies for ERCC4

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    Uscn ELISAs and CLIAs for ERCC4

    Protein Domains /
    Families
    for ERCC4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ERCC4 for domains           About GeneDecksing

    5 InterPro domains/families:
     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 family: IPB006166 ERCC4 domain

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


    Function
    for ERCC4 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: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ERCC4
    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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERCC4 (see all 4)
    OriGene shRNA RFP: ERCC4
    OriGene siRNA: ERCC4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERCC4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ERCC4

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC4 (see all 3)
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    In Situ Assay
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000014single-stranded DNA specific endodeoxyribonuclease activity IBA--
    GO:0003684damaged DNA binding IMP11790111
    GO:0003697single-stranded DNA binding IDA10413517
    GO:0004520contributes to endodeoxyribonuclease activity IDA8797827
    GO:0005515protein binding IPI14690602


    ERCC4 for ontologies           About GeneDecksing


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

    Animal Models:
         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


    Pathways & Interactions
    for ERCC4 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
    4Ethanol oxidation
    		Cyclophosphamide Pathway, Pharmacodynamics0.42
    5Chks 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 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

    1         Kegg Pathway  (Kegg details for ERCC4):
        Nucleotide excision repair


    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)

    5/225 Interacting proteins for ERCC4 (Q928891, 2, 3 ENSP000003105204) via UniProtKB, MINT, STRING, and/or I2D (see all 225)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLX4Q8IY921, 3, ENSP000002940084EBI-2370770,EBI-2560942 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



    Drugs & Compounds
    for ERCC4 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

    ERCC4 for compounds           About GeneDecksing

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

    Browse Tocris compounds for ERCC4

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

    Transcripts
    for ERCC4 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 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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    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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    Inhib. RNA
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    OriGene shRNA RFP: ERCC4
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERCC4
    Clone
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    Additional cDNA 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):

    AA284141 AW271424 NM_005236 BM710111 BC020741 BQ013114 BE695780 BX503907 
    AA291199 AA255461 AA829830 AI279564 BM671280 BQ011470 BP348009 BI522552 
    AI962974 AI334426 AA808363 BV183921 BP346826 AI431784 AI653508 AW118718 

    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

    Expression
    for ERCC4 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

    ERCC4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGGACTGAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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

    Primer
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    In Situ
    Assay Products:     
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    Orthologs
    for ERCC4 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 ERCC4 gene from 10/34 species (see all 34)    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
    		 --
    		 74(a)
    		 1 ↔ 1
    		 GL343649.1(284899-298316)
    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
    		 --
    		 27(a)
    		 1 ↔ 1
    		 II(11696107-11705297)
    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
    for ERCC4 gene

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

    Genomic Variants
    for ERCC4 gene

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

    10/762 NCBI SNPs in ERCC4 are shown (see all 762)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219130491,2
    		C,Fpathogenic13959344(+) GACTAC/TGGATT 2 R W mis12Minor allele frequency- T:0.00NA EU 5873
    rs72005251,2
    		C,F,A,H,--13929617(+) AGTGCC/TCGTTC 1 -- us2k110Minor allele frequency- T:0.06NS EA NA WA 1212
    rs2549411,2
    		H--13929783(-) caaagG/Aggggt 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs1124670451,2
    		--13929848(+) GCCGAC/TATTCT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1125465141,2
    		--13930175(+) ATTAAG/ACAGTA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1112465061,2
    		--13930241(+) TAGGCC/TTTCTA 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs799547921,2
    		--13931307(+) CTTCGG/ACTTTC 1 -- us2k11Minor allele frequency- A:0.01WA 118
    rs31360401,2
    		C,F,--13931334(+) GTGGCC/GTCGGC 1 -- us2k14Minor allele frequency- G:0.03NS NA WA 296
    rs342050981,2
    		C,F--13931606(-) CACTAC/GTAGCC 2 L V mis13Minor allele frequency- G:0.03NA 78
    rs31360431,2
    		C,F,H,--13931795(+) TGACAG/CGGATG 1 -- int15Minor allele frequency- C:0.01NS EA 592

    HapMap Linkage Disequilibrium report for ERCC4 (14014014 - 14046205 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ERCC4: --
    Human Gene Mutation Database (HGMD): ERCC4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERCC4
    DNA2.0 Custom Variant and Variant Library Synthesis for ERCC4

    Disorders / Diseases
    for ERCC4 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
    ERCC4 for disorders           About GeneDecksing

    OMIM gene information: 133520   
    OMIM disorders: 278760  610965  
    UniProtKB/Swiss-Prot: XPF_HUMAN, Q92889
  • Defects in ERCC4 are the cause of xeroderma pigmentosum complementation group F (XP-F) [MIM:278760]; also
    • known as xeroderma pigmentosum VI (XP6). XP-F is an autosomal recessive disease characterized by hypersensitivity of
    the skin to sunlight followed by high incidence of skin cancer and frequent neurologic abnormalities
  • Defects in ERCC4 are a cause of XFE progeroid syndrome (XFEPS) [MIM:610965]. This syndrome is illustrated by
    • one patient who presented with dwarfism, cachexia and microcephaly

    20/56 diseases for ERCC4 (see all 56):    About MalaCards
    xeroderma pigmentosum    xeroderma pigmentosum, group f    xfe progeroid syndrome    xeroderma pigmentosum, group a
    diffuse large b-cell lymphoma    photosensitive trichthiodystrophy    b-cell lymphomas    acoustic neuroma
    fanconi's anemia    autosomal recessive disease    squamous cell carcinoma of the head and neck    neuroma
    squamous cell carcinoma    female breast cancer    male infertility    acute lymphoblastic leukemia
    conduct disorder    chronic lymphocytic leukemia    lymphoblastic leukemia    progeria

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

    10/11 Novoseek 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
    Xeroderma Pigmentosum

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

    Export disorders for ERCC4 gene to outside databases

    Publications
    for ERCC4 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 ERCC4 gene, integrated from 9 sources (see all 220):
    (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. 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)
    4. 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)
    5. 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)
    6. 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)
    7. Variable continental distribution of polymorphisms in the coding regions of DNA-repair genes. (PubMed id 14625810)1, 4, 9 Mathonnet G....Sinnett D. (2003)
    8. Polymorphisms in genes encoding drugs and xenobiotic metabolizing enzymes, DNA repair enzymes, and response to treatment of childhood acute lymphoblastic leukemia. (PubMed id 11895912)1, 4, 9 Krajinovic M....Sinnett D. (2002)
    9. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. (PubMed id 9485007)1, 2, 9 Shen M.R.... Mohrenweiser H. (1998)
    10. Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. (PubMed id 19595721)1, 2 Munoz I.M.... Rouse J. (2009)

    External Searches for ERCC4 gene

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

    Genome Databases showing ERCC4 gene

    (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

    Other Databases showing ERCC4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ERCC4 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 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/

    Intellectual Property
    for ERCC4 gene

    (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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