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Aliases for ERCC4 Gene

Aliases for ERCC4 Gene

  • Excision Repair Cross-Complementation Group 4 2 3
  • XPF 3 4 6
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 4 2 3
  • Xeroderma Pigmentosum Group F-Complementing Protein 3 4
  • DNA Repair Protein Complementing XP-F Cells 3 4
  • DNA Excision Repair Protein ERCC-4 3 4
  • ERCC11 3 4
  • FANCQ 3 6
  • Excision-Repair, Complementing Defective, In Chinese Hamster 3
  • Xeroderma Pigmentosum, Complementation Group F 3
  • DNA Repair Endonuclease XPF 3
  • Complementation Group F 2
  • Xeroderma Pigmentosum 2
  • EC 3.1.-.- 4
  • RAD1 3

External Ids for ERCC4 Gene

Previous HGNC Symbols for ERCC4 Gene

  • XPF

Previous GeneCards Identifiers for ERCC4 Gene

  • GC16P013959
  • GC16P014166
  • GC16P013980
  • GC16P013922

Summaries for ERCC4 Gene

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 xfe progeroid syndrome and fanconi anemia, complementation group q. Among its related pathways are Cell Cycle, Mitotic and Chks in Checkpoint Regulation. GO annotations related to this gene include protein C-terminus binding and single-stranded DNA binding.

UniProtKB/Swiss-Prot for ERCC4 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC4 Gene

Genomics for ERCC4 Gene

Regulatory Elements for ERCC4 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ERCC4 Gene

13,920,157 bp from pter
13,952,348 bp from pter
32,192 bases
Plus strand

Genomic View for ERCC4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERCC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC4 Gene

Proteins for ERCC4 Gene

  • Protein details for ERCC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DNA repair endonuclease XPF
    Protein Accession:
    Secondary Accessions:
    • A5PKV6
    • A8K111
    • O00140
    • Q8TD83

    Protein attributes for ERCC4 Gene

    916 amino acids
    Molecular mass:
    104486 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • 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=AAB07689.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ERCC4 Gene

    Alternative splice isoforms for ERCC4 Gene


neXtProt entry for ERCC4 Gene

Proteomics data for ERCC4 Gene at MOPED

Post-translational modifications for ERCC4 Gene

  • Ubiquitination at Lys753
  • Modification sites at PhosphoSitePlus

Other Protein References for ERCC4 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERCC4 (ERCC4)

No data available for DME Specific Peptides for ERCC4 Gene

Domains for ERCC4 Gene

Gene Families for ERCC4 Gene

Protein Domains for ERCC4 Gene

Suggested Antigen Peptide Sequences for ERCC4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 ERCC4 domain.
  • Belongs to the XPF family.
  • Contains 1 ERCC4 domain.
  • Belongs to the XPF family.
genes like me logo Genes that share domains with ERCC4: view

Function for ERCC4 Gene

Molecular function for ERCC4 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for ERCC4 Gene

Gene Ontology (GO) - Molecular Function for ERCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 single-stranded DNA endodeoxyribonuclease activity IBA --
GO:0001094 TFIID-class transcription factor binding IEA --
GO:0003676 nucleic acid binding --
GO:0003677 DNA binding --
GO:0003684 damaged DNA binding IMP 11790111
genes like me logo Genes that share ontologies with ERCC4: view
genes like me logo Genes that share phenotypes with ERCC4: view

Animal Model Products

CRISPR Products

miRNA for ERCC4 Gene

miRTarBase miRNAs that target ERCC4

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERCC4

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ERCC4 Gene

Localization for ERCC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC4 Gene


Subcellular locations from

Jensen Localization Image for ERCC4 Gene COMPARTMENTS Subcellular localization image for ERCC4 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for ERCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000109 nucleotide-excision repair complex IDA 10644440
GO:0000110 nucleotide-excision repair factor 1 complex IDA 10413517
GO:0000781 chromosome, telomeric region IDA 14690602
GO:0000784 nuclear chromosome, telomeric region IDA 14690602
GO:0005634 nucleus IDA 12571280
genes like me logo Genes that share ontologies with ERCC4: view

Pathways for ERCC4 Gene

genes like me logo Genes that share pathways with ERCC4: view

PCR Array Products

Gene Ontology (GO) - Biological Process for ERCC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000712 resolution of meiotic recombination intermediates IBA --
GO:0000718 nucleotide-excision repair, DNA damage removal TAS --
GO:0000723 telomere maintenance IMP 14690602
GO:0000724 double-strand break repair via homologous recombination IMP 14728600
GO:0000737 DNA catabolic process, endonucleolytic --
genes like me logo Genes that share ontologies with ERCC4: view

Drugs for ERCC4 Gene

(1) HMDB Compounds for ERCC4 Gene

Compound Synonyms Cas Number PubMed IDs
  • Magnesium

(8) Novoseek inferred chemical compound relationships for ERCC4 Gene

Compound -log(P) Hits PubMed IDs
psoralen 46.3 6
mitomycin c 41.9 7
cisplatin 35.5 8
melphalan 33.9 1
thymidylate 21.4 1

(1) PharmGKB related drug/compound annotations for ERCC4 Gene

Drug/compound Annotation
Platinum compounds Clinical Annotation
genes like me logo Genes that share compounds with ERCC4: view

Transcripts for ERCC4 Gene

Unigene Clusters for ERCC4 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERCC4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC4 Gene

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

Relevant External Links for ERCC4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ERCC4 Gene

mRNA expression in normal human tissues for ERCC4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for ERCC4 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (24.7) and Heart (16.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERCC4 Gene

SOURCE GeneReport for Unigene cluster for ERCC4 Gene Hs.567265

genes like me logo Genes that share expressions with ERCC4: view

Expression partners for ERCC4 Gene

* - Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC4 Gene

Orthologs for ERCC4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia ERCC4 35
  • 85.44 (n)
  • 89.63 (a)
ERCC4 36
  • 90 (a)
(Canis familiaris)
Mammalia ERCC4 35
  • 86.1 (n)
  • 91.05 (a)
ERCC4 36
  • 90 (a)
(Mus musculus)
Mammalia Ercc4 35
  • 80.49 (n)
  • 86.14 (a)
Ercc4 16
Ercc4 36
  • 86 (a)
(Pan troglodytes)
Mammalia ERCC4 35
  • 99.56 (n)
  • 99.56 (a)
ERCC4 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Ercc4l1 35
  • 79.77 (n)
  • 84.67 (a)
(Monodelphis domestica)
Mammalia ERCC4 36
  • 86 (a)
(Ornithorhynchus anatinus)
Mammalia ERCC4 36
  • 84 (a)
(Gallus gallus)
Aves ERCC4 35
  • 74.52 (n)
  • 77.56 (a)
ERCC4 36
  • 77 (a)
(Anolis carolinensis)
Reptilia ERCC4 36
  • 74 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc4 35
  • 70.42 (n)
  • 76.58 (a)
Str.15254 35
(Danio rerio)
Actinopterygii ercc4 35
  • 63.24 (n)
  • 65.43 (a)
wufi03a05 35
ercc4 36
  • 64 (a)
fruit fly
(Drosophila melanogaster)
Insecta mei-9 37
  • 40 (a)
mei-9 35
  • 50.94 (n)
  • 44.87 (a)
mei-9 36
  • 38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002805 35
  • 51.96 (n)
  • 47.16 (a)
(Caenorhabditis elegans)
Secernentea C47D12.8 36
  • 29 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR456C 35
  • 49.19 (n)
  • 44.24 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D12210g 35
  • 46.16 (n)
  • 38.77 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD1 35
  • 46.55 (n)
  • 37.12 (a)
RAD1 36
  • 27 (a)
RAD1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons UVH1 35
  • 49.73 (n)
  • 44.04 (a)
(Oryza sativa)
Liliopsida Os03g0100400 35
  • 48.83 (n)
  • 40.89 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU07440 35
  • 50.89 (n)
  • 45.25 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rad16 35
  • 46.96 (n)
  • 37.89 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
Species with no ortholog for ERCC4:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERCC4 Gene

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

Paralogs for ERCC4 Gene

No data available for Paralogs for ERCC4 Gene

Variants for ERCC4 Gene

Sequence variations from dbSNP and Humsavar for ERCC4 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs31869 -- 13,937,663(-) AATAA(C/T)AAATA intron-variant
rs31870 -- 13,943,873(-) GTAGC(C/T)TTATT intron-variant
rs254941 -- 13,918,397(-) caaag(A/G)ggggt upstream-variant-2KB
rs254942 -- 13,932,150(-) TAATA(C/T)GAAAA intron-variant
rs744154 -- 13,921,224(-) CTTAA(C/G)ACAGC intron-variant

Relevant External Links for ERCC4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for ERCC4 Gene

Disorders for ERCC4 Gene

(3) OMIM Diseases for ERCC4 Gene (133520)


  • 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. {ECO:0000269 PubMed:8797827, ECO:0000269 PubMed:9579555, ECO:0000269 PubMed:9580660}. 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. {ECO:0000269 PubMed:17183314}. 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. {ECO:0000269 PubMed:23623386, ECO:0000269 PubMed:24027083}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(11) Novoseek inferred disease relationships for ERCC4 Gene

Disease -log(P) Hits PubMed IDs
xeroderma pigmentosum 88.1 13
xp, group f 87.6 1
fanconis anemia 54.5 2
cancer 34.5 6
cancer lung 28.8 7

Relevant External Links for ERCC4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with ERCC4: view

No data available for Genatlas for ERCC4 Gene

Publications for ERCC4 Gene

  1. Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. (PMID: 9579555) Sijbers A.M. … Kleijer W.J. (J. Invest. Dermatol. 1998) 2 3 4 23
  2. ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. (PMID: 8887684) Brookman K.W. … Thompson L.H. (Mol. Cell. Biol. 1996) 2 3 4 23
  3. Xeroderma pigmentosum group F caused by a defect in a structure- specific DNA repair endonuclease. (PMID: 8797827) Sijbers A.M. … Wood R.D. (Cell 1996) 3 4 23
  4. Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers. (PMID: 17438655) Cheng J. … Zheng Y. (Biomarkers 2007) 3 23 48
  5. Polymorphism in nucleotide excision repair gene XPC correlates with bleomycin-induced chromosomal aberrations. (PMID: 17685459) Laczmanska I. … Sasiadek M.M. (Environ. Mol. Mutagen. 2007) 3 23 48

Products for ERCC4 Gene

Sources for ERCC4 Gene

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