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Aliases for ERCC5 Gene

Aliases for ERCC5 Gene

  • ERCC Excision Repair 5, Endonuclease 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 5 2 3
  • Xeroderma Pigmentosum, Complementation Group G 2 3
  • Excision Repair Cross-Complementation Group 5 2 3
  • DNA Excision Repair Protein ERCC-5 3 4
  • ERCM2 3 4
  • XPGC 3 4
  • XPG 3 4
  • Xeroderma Pigmentosum Group G-Complementing Protein 4
  • DNA Repair Protein Complementing XP-G Cells 3
  • XPG-Complementing Protein 3
  • Cockayne Syndrome 2
  • EC 3.1.-.- 4
  • ERCC5-201 3
  • COFS3 3
  • UVDR 3

External Ids for ERCC5 Gene

Previous HGNC Symbols for ERCC5 Gene

  • ERCM2
  • XPGC

Previous GeneCards Identifiers for ERCC5 Gene

  • GC13P101858
  • GC13P097885
  • GC13P102334
  • GC13P101196
  • GC13P102296
  • GC13P103497
  • GC13P084090
  • GC13P103459

Summaries for ERCC5 Gene

Entrez Gene Summary for ERCC5 Gene

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

CIViC summary for ERCC5 Gene

GeneCards Summary for ERCC5 Gene

ERCC5 (ERCC Excision Repair 5, Endonuclease) is a Protein Coding gene. Diseases associated with ERCC5 include Xeroderma Pigmentosum, Complementation Group G and Cerebrooculofacioskeletal Syndrome 3. Among its related pathways are Nucleotide excision repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein N-terminus binding. An important paralog of this gene is BIVM-ERCC5.

UniProtKB/Swiss-Prot for ERCC5 Gene

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

Gene Wiki entry for ERCC5 Gene

Additional gene information for ERCC5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC5 Gene

Genomics for ERCC5 Gene

GeneHancer (GH) Regulatory Elements for ERCC5 Gene

Promoters and enhancers for ERCC5 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13I102844 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 572.9 +1.7 1656 3.9 HDGF PKNOX1 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 ERCC5 BIVM TEX30 METTL21EP TPP2 CCDC168 LINC00283 METTL21C GC13P102835 GC13M102871
GH13I102772 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 28.5 -71.1 -71142 2.6 HDGF ATF1 SIN3A GLI4 YY1 POLR2B ZNF766 GLIS2 CBX5 ZNF207 PIR36999 TEX30 ERCC5 TPP2 METTL21EP
GH13I102594 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 20.7 -247.5 -247526 5.2 PKNOX1 SMAD1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 TPP2 ERCC5 METTL21C GC13P102663
GH13I102830 Enhancer 1 ENCODE dbSUPER 12 -13.8 -13839 1.2 ELF3 FOXA2 MLX ARID4B DMAP1 ZNF48 RAD21 RARA THAP11 MIXL1 BIVM ERCC5 TEX30 LINC00283 GC13P102835 RNY5P8 BIVM-ERCC5
GH13I102606 Enhancer 0.8 dbSUPER 10.7 -238.3 -238323 0.7 HDAC1 PKNOX1 ATF1 ARNT TCF12 GATA2 ATF7 CREM SMAD5 CEBPB BIVM ERCC5 LINC00283 CCDC168 METTL21C TPP2 GC13P102663
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERCC5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERCC5 gene promoter:

Genomic Locations for ERCC5 Gene

Genomic Locations for ERCC5 Gene
31,158 bases
Plus strand

Genomic View for ERCC5 Gene

Genes around ERCC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC5 Gene

Proteins for ERCC5 Gene

  • Protein details for ERCC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DNA repair protein complementing XP-G cells
    Protein Accession:
    Secondary Accessions:
    • A6NGT4
    • Q5JUS4
    • Q5JUS5
    • Q7Z2V3
    • Q8IZL6
    • Q8N1B7
    • Q9HD59
    • Q9HD60

    Protein attributes for ERCC5 Gene

    1186 amino acids
    Molecular mass:
    133108 Da
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with PCNA.

    Three dimensional structures from OCA and Proteopedia for ERCC5 Gene

    Alternative splice isoforms for ERCC5 Gene


neXtProt entry for ERCC5 Gene

Post-translational modifications for ERCC5 Gene

  • Ubiquitination at posLast=172172, posLast=293293, posLast=298298, and posLast=313313

Other Protein References for ERCC5 Gene

No data available for DME Specific Peptides for ERCC5 Gene

Domains & Families for ERCC5 Gene

Gene Families for ERCC5 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the XPG/RAD2 endonuclease family. XPG subfamily.
  • Belongs to the XPG/RAD2 endonuclease family. XPG subfamily.
genes like me logo Genes that share domains with ERCC5: view

Function for ERCC5 Gene

Molecular function for ERCC5 Gene

GENATLAS Biochemistry:
excision repair cross-complementing rodent repair defect in CHO cells,complementation group 5,yeast RAD2 homolog (see XPG),deleted in metastatic prostate carcinomas
UniProtKB/Swiss-Prot Function:
Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too.

Enzyme Numbers (IUBMB) for ERCC5 Gene

Gene Ontology (GO) - Molecular Function for ERCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000405 bubble DNA binding IDA 16246722
GO:0003677 DNA binding IEA --
GO:0003690 double-stranded DNA binding IDA 8090225
GO:0003697 single-stranded DNA binding IDA 12644470
GO:0003824 catalytic activity IEA --
genes like me logo Genes that share ontologies with ERCC5: view
genes like me logo Genes that share phenotypes with ERCC5: view

Human Phenotype Ontology for ERCC5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC5 Gene

MGI Knock Outs for ERCC5:

miRNA for ERCC5 Gene

miRTarBase miRNAs that target ERCC5

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for ERCC5 Gene

Localization for ERCC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC5 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERCC5 gene
Compartment Confidence
nucleus 5
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ERCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 8710877
GO:0005654 nucleoplasm TAS --
GO:0005662 colocalizes_with DNA replication factor A complex IDA 7700386
GO:0005675 colocalizes_with holo TFIIH complex IDA 11259578
GO:0016591 colocalizes_with DNA-directed RNA polymerase II, holoenzyme IDA 16246722
genes like me logo Genes that share ontologies with ERCC5: view

Pathways & Interactions for ERCC5 Gene

genes like me logo Genes that share pathways with ERCC5: view

Gene Ontology (GO) - Biological Process for ERCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS,IMP --
GO:0006289 nucleotide-excision repair IEA --
GO:0006293 nucleotide-excision repair, preincision complex stabilization TAS --
GO:0006294 nucleotide-excision repair, preincision complex assembly TAS --
genes like me logo Genes that share ontologies with ERCC5: view

No data available for SIGNOR curated interactions for ERCC5 Gene

Drugs & Compounds for ERCC5 Gene

(5) Drugs for ERCC5 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
platinum Investigational Pharma 0

(4) Additional Compounds for ERCC5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ERCC5: view

Transcripts for ERCC5 Gene

mRNA/cDNA for ERCC5 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ERCC5 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 5:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - - - -
SP2: - -
SP3: -
SP5: - -
SP6: - - -

Relevant External Links for ERCC5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ERCC5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERCC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ERCC5 Gene

This gene is overexpressed in CD8 Tcells (16.3), Peripheral blood mononuclear cells (7.6), and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERCC5 Gene

Protein tissue co-expression partners for ERCC5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ERCC5 Gene:


SOURCE GeneReport for Unigene cluster for ERCC5 Gene:


Evidence on tissue expression from TISSUES for ERCC5 Gene

  • Bone marrow(4.3)
  • Eye(4.1)
  • Nervous system(4)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • pelvis
  • penis
  • testicle
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ERCC5: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC5 Gene

Orthologs for ERCC5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERCC5 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ERCC5 33
  • 99.27 (n)
(Canis familiaris)
Mammalia ERCC5 33
  • 82.2 (n)
  • 54 (a)
(Bos Taurus)
Mammalia ERCC5 33 34
  • 78.92 (n)
(Mus musculus)
Mammalia Ercc5 33 16 34
  • 75.71 (n)
(Rattus norvegicus)
Mammalia Ercc5 33
  • 75.08 (n)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
(Gallus gallus)
Aves ERCC5 34 33
  • 64.14 (n)
(Anolis carolinensis)
Reptilia -- 34
  • 56 (a)
African clawed frog
(Xenopus laevis)
Amphibia XPGC 33
(Danio rerio)
Actinopterygii ercc5 34
  • 47 (a)
fruit fly
(Drosophila melanogaster)
Insecta mus201 35 34
  • 41 (a)
(Caenorhabditis elegans)
Secernentea gen-1 34
  • 27 (a)
xpg-1 34
  • 24 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD2 34
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 31 (a)
Species where no ortholog for ERCC5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ERCC5 Gene

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

Paralogs for ERCC5 Gene

Paralogs for ERCC5 Gene

(1) SIMAP similar genes for ERCC5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ERCC5: view

Variants for ERCC5 Gene

Sequence variations from dbSNP and Humsavar for ERCC5 Gene

SNP ID Clin Chr 13 pos Variation AA Info Type
rs1047768 conflicting-interpretations-of-pathogenicity, benign, not specified, Xeroderma pigmentosum 102,852,167(+) T/C coding_sequence_variant, synonymous_variant
rs1047769 not-provided, conflicting-interpretations-of-pathogenicity, likely-benign, not specified, Xeroderma pigmentosum 102,861,594(+) A/G coding_sequence_variant, missense_variant
rs1057518813 likely-pathogenic, Abnormality of the corpus callosum, Cerebellar atrophy, Cognitive impairment, Dysarthria, Pectus excavatum, Pes cavus, Polyneuropathy, Spastic paraplegia 102,873,305(+) TCTCT/TCT coding_sequence_variant, frameshift
rs121434570 pathogenic, Xeroderma pigmentosum, group G 102,872,397(+) G/A/T coding_sequence_variant, missense_variant, stop_gained
rs121434571 pathogenic, Xeroderma pigmentosum, group G, Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780] 102,866,687(+) C/A/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for ERCC5 Gene

Variant ID Type Subtype PubMed ID
esv2661939 CNV deletion 23128226
esv3633382 CNV loss 21293372
nsv562981 CNV gain 21841781

Variation tolerance for ERCC5 Gene

Residual Variation Intolerance Score: 97.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.30; 88.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERCC5 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC5 Gene

Disorders for ERCC5 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ERCC5 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ERCC5 in MalaCards View complete list of genes associated with diseases


  • Cerebro-oculo-facio-skeletal syndrome 3 (COFS3) [MIM:616570]: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. {ECO:0000269 PubMed:24700531}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]: 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. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. {ECO:0000269 PubMed:10447254, ECO:0000269 PubMed:11228268, ECO:0000269 PubMed:11841555, ECO:0000269 PubMed:12060391, ECO:0000269 PubMed:23255472, ECO:0000269 PubMed:7951246, ECO:0000269 PubMed:9096355}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ERCC5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ERCC5: view

No data available for Genatlas for ERCC5 Gene

Publications for ERCC5 Gene

  1. Association and impact of XPG Asp 1104 His gene polymorphism in HIV 1 disease progression to AIDS among north Indian HIV seropositive individuals. (PMID: 19693700) Sobti RC … Wanchu A (Molecular biology reports 2010) 3 22 44 58
  2. Polymorphisms in XRCC1 and XPG and response to platinum-based chemotherapy in advanced non-small cell lung cancer patients. (PMID: 19157633) Sun X … Yingfeng Z (Lung cancer (Amsterdam, Netherlands) 2009) 3 22 44 58
  3. Polymorphisms in nucleotide excision repair genes, polycyclic aromatic hydrocarbon-DNA adducts, and breast cancer risk. (PMID: 17932351) Crew KD … Santella RM (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007) 3 22 44 58
  4. Single nucleotide polymorphism analysis of the nucleotide excision repair genes XPC, XPA, and XPG in the Indian population. (PMID: 18478970) Gowda S … Rao MR (Human biology 2007) 3 22 44 58
  5. Influence of polymorphisms in xenobiotic-metabolizing genes and DNA-repair genes on diepoxybutane-induced SCE frequency. (PMID: 17078101) Laczmanska I … Sasiadek MM (Environmental and molecular mutagenesis 2006) 3 22 44 58

Products for ERCC5 Gene

  • Addgene plasmids for ERCC5

Sources for ERCC5 Gene

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