This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of ... See more...

Aliases for ERCC8 Gene

Aliases for ERCC8 Gene

  • ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit 2 3 5
  • CSA 2 3 4
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 8 2 3
  • Excision Repair Cross-Complementation Group 8 2 3
  • Cockayne Syndrome WD Repeat Protein CSA 3 4
  • DNA Excision Repair Protein ERCC-8 3 4
  • CKN1 3 4
  • Cockayne Syndrome WD-Repeat Protein CSA 3
  • Cockayne Syndrome 1 (Classical) 2
  • UVSS2 3
  • ERCC8 5

External Ids for ERCC8 Gene

Previous HGNC Symbols for ERCC8 Gene

  • CKN1

Previous GeneCards Identifiers for ERCC8 Gene

  • GC00U990095
  • GC05M060206
  • GC05M060169
  • GC05M057127
  • GC05M060873

Summaries for ERCC8 Gene

Entrez Gene Summary for ERCC8 Gene

  • This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

GeneCards Summary for ERCC8 Gene

ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit) is a Protein Coding gene. Diseases associated with ERCC8 include Cockayne Syndrome A and Uv-Sensitive Syndrome 2. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and DNA-dependent ATPase activity. An important paralog of this gene is WDR59.

UniProtKB/Swiss-Prot Summary for ERCC8 Gene

  • Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes. Plays a role in DNA single-strand and double-strand breaks (DSSBs) repair; involved in repair of DSSBs by non-homologous end joining (NHEJ) (PubMed:29545921).

Gene Wiki entry for ERCC8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERCC8 Gene

Genomics for ERCC8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ERCC8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J060943 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 612.9 -0.3 -323 4 SP1 CREB1 GATAD2A PRDM10 ZNF629 RFX1 ZNF692 POLR2A FOS FOXA1 ERCC8 NDUFAF2 NONHSAG040481.2 lnc-ELOVL7-1 DEPDC1B ZSWIM6 ELOVL7 piR-60985-091 SMIM15
GH05J060842 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 12.5 +101.3 101253 2.8 RNF2 CREB1 HNRNPL PRDM10 ZNF629 CTCF ZNF692 TARDBP ZHX2 JUND ELOVL7 ERCC8 NDUFAF2 hsa-miR-5095-397 DEPDC1B
GH05J061161 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 -217.2 -217223 4.6 HNRNPL GATAD2A PRDM10 ZNF629 TFE3 IKZF1 NFKBIZ ZNF692 POLR2A TARDBP SMIM15 SMIM15-AS1 ERCC8 ELOVL7 NDUFAF2
GH05J060820 Enhancer 1.1 Ensembl ENCODE 13.3 +124.0 124040 2 LEF1 IKZF1 ETV6 JUND MTA2 PKNOX1 ZNF24 MTA1 NR2C1 DPF2 ELOVL7 ERCC8 hsa-miR-5095-397 DEPDC1B
GH05J060976 Enhancer 1 Ensembl ENCODE 12.9 -33.1 -33072 3.6 LEF1 IKZF1 JUND MTA2 PKNOX1 REST DPF2 HDAC1 SOX6 TCF12 ERCC8 ELOVL7 NDUFAF2 NONHSAG040481.2 piR-60985-091 SMIM15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERCC8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ERCC8

Top Transcription factor binding sites by QIAGEN in the ERCC8 gene promoter:
  • AML1a
  • AREB6
  • Evi-1
  • HEN1
  • MRF-2
  • NF-YC
  • Nkx2-2
  • Sox5
  • TBP
  • XBP-1

Genomic Locations for ERCC8 Gene

Genomic Locations for ERCC8 Gene
chr5:60,866,454-60,945,078
(GRCh38/hg38)
Size:
78,625 bases
Orientation:
Minus strand
chr5:60,169,658-60,240,905
(GRCh37/hg19)
Size:
71,248 bases
Orientation:
Minus strand

Genomic View for ERCC8 Gene

Genes around ERCC8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC8 Gene

Proteins for ERCC8 Gene

  • Protein details for ERCC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13216-ERCC8_HUMAN
    Recommended name:
    DNA excision repair protein ERCC-8
    Protein Accession:
    Q13216
    Secondary Accessions:
    • B2RB64
    • Q6FHX5
    • Q96GB9

    Protein attributes for ERCC8 Gene

    Size:
    396 amino acids
    Molecular mass:
    44055 Da
    Quaternary structure:
    • Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Interacts with ERCC6 and KIAA1530/UVSSA. Interacts with a subunit of RNA polymerase II TFIIH. Interacts directly with DDB1 (PubMed:22118460).

    Three dimensional structures from OCA and Proteopedia for ERCC8 Gene

    Alternative splice isoforms for ERCC8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC8 Gene

Post-translational modifications for ERCC8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ERCC8 Gene

Domains & Families for ERCC8 Gene

Gene Families for ERCC8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ERCC8 Gene

Suggested Antigen Peptide Sequences for ERCC8 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ32369 fis, clone PUAEN1000276, highly similar to DNA excision repair protein ERCC-8 (B3KPW7_HUMAN)
  • cDNA FLJ52883, highly similar to DNA excision repair protein ERCC-8 (B4DGZ9_HUMAN)
  • cDNA FLJ56290, highly similar to DNA excision repair protein ERCC-8 (B4E383_HUMAN)
  • Cockayne syndrome WD repeat protein CSA (ERCC8_HUMAN)
genes like me logo Genes that share domains with ERCC8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ERCC8 Gene

Function for ERCC8 Gene

Molecular function for ERCC8 Gene

UniProtKB/Swiss-Prot Function:
Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes. Plays a role in DNA single-strand and double-strand breaks (DSSBs) repair; involved in repair of DSSBs by non-homologous end joining (NHEJ) (PubMed:29545921).

Phenotypes From GWAS Catalog for ERCC8 Gene

Gene Ontology (GO) - Molecular Function for ERCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003678 NOT DNA helicase activity IDA 8999876
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA,IDA 12732143
GO:0005515 protein binding IEA,IPI 10944529
GO:0008094 NOT DNA-dependent ATPase activity IDA 8999876
GO:0044877 protein-containing complex binding IDA 16916636
genes like me logo Genes that share ontologies with ERCC8: view
genes like me logo Genes that share phenotypes with ERCC8: view

Human Phenotype Ontology for ERCC8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC8 Gene

MGI Knock Outs for ERCC8:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC8

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ERCC8 Gene

Localization for ERCC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC8 Gene

Nucleus. Nucleus matrix. Note=UV-induced translocation to the nuclear matrix is dependent on ERCC6. {ECO:0000269 PubMed:26620705}.

Subcellular locations from

COMPARTMENTS
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 ERCC8 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ERCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000109 nucleotide-excision repair complex IBA,IDA 12732143
GO:0005634 nucleus IDA 11782547
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0016363 nuclear matrix IEA,IDA 11782547
genes like me logo Genes that share ontologies with ERCC8: view

Pathways & Interactions for ERCC8 Gene

genes like me logo Genes that share pathways with ERCC8: view

Pathways by source for ERCC8 Gene

2 Qiagen pathways for ERCC8 Gene
  • DNA Repair Mechanisms
  • Nucleotide Excision Repair Pathway

UniProtKB/Swiss-Prot Q13216-ERCC8_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for ERCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000012 single strand break repair IDA 29545921
GO:0000209 protein polyubiquitination IDA 12732143
GO:0006281 DNA repair IEA --
GO:0006283 transcription-coupled nucleotide-excision repair IEA,TAS --
GO:0006289 nucleotide-excision repair IMP 17297471
genes like me logo Genes that share ontologies with ERCC8: view

No data available for SIGNOR curated interactions for ERCC8 Gene

Drugs & Compounds for ERCC8 Gene

No Compound Related Data Available

Transcripts for ERCC8 Gene

mRNA/cDNA for ERCC8 Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC8

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for ERCC8 Gene

GeneLoc Exon Structure for
ERCC8

Expression for ERCC8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ERCC8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

Protein differential expression in normal tissues from HIPED for ERCC8 Gene

This gene is overexpressed in Adipocyte (29.0), Brain (20.1), and Urinary Bladder (17.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ERCC8 Gene



Protein tissue co-expression partners for ERCC8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERCC8

SOURCE GeneReport for Unigene cluster for ERCC8 Gene:

Hs.435237

Evidence on tissue expression from TISSUES for ERCC8 Gene

  • Nervous system(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC8 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • jaw
  • lacrimal apparatus
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • 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
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with ERCC8: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC8 Gene

Orthologs for ERCC8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ERCC8 30 31
  • 99.24 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ERCC8 30 31
  • 93.1 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ERCC8 30 31
  • 92.34 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ercc8 30
  • 86.7 (n)
Oppossum
(Monodelphis domestica)
Mammalia ERCC8 31
  • 86 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ercc8 30 17 31
  • 85.77 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ERCC8 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ERCC8 30 31
  • 81.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 79 (a)
OneToMany
-- 31
  • 67 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ercc8 30
  • 73.48 (n)
Str.20460 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.5566 30
Zebrafish
(Danio rerio)
Actinopterygii ercc8 30 31
  • 69.8 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD28 31 33 33
  • 18 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G19750 30
  • 52.87 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0857900 30
  • 54.93 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ckn1 30
  • 46.74 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.2623 31
  • 37 (a)
OneToOne
Species where no ortholog for ERCC8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for ERCC8 Gene

ENSEMBL:
Gene Tree for ERCC8 (if available)
TreeFam:
Gene Tree for ERCC8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ERCC8: view image

Paralogs for ERCC8 Gene

Paralogs for ERCC8 Gene

genes like me logo Genes that share paralogs with ERCC8: view

Variants for ERCC8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ERCC8 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
635323 Pathogenic: Cockayne syndrome type A 60,918,343(-) C/CCACT NONSENSE,FIVE_PRIME_UTR_VARIANT
640063 Pathogenic: not provided 60,899,694(-) TC/T FRAMESHIFT_VARIANT
645783 Likely Pathogenic: not provided 60,904,792(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
697676 Benign: not provided 60,922,092(-) T/C SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
701917 Benign: Cockayne syndrome type A; not provided 60,903,694(-) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ERCC8 Gene

Structural Variations from Database of Genomic Variants (DGV) for ERCC8 Gene

Variant ID Type Subtype PubMed ID
dgv9810n54 CNV loss 21841781
dgv9811n54 CNV loss 21841781
esv2673115 CNV deletion 23128226
esv2762523 CNV loss 21179565
esv3605199 CNV loss 21293372
nsv1025896 CNV loss 25217958
nsv1077987 CNV duplication 25765185
nsv1161250 CNV deletion 26073780
nsv1161251 CNV deletion 26073780
nsv462199 CNV gain 19166990
nsv462200 CNV loss 19166990
nsv520871 CNV loss 19592680
nsv598308 CNV gain 21841781

Variation tolerance for ERCC8 Gene

Residual Variation Intolerance Score: 53.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.78; 79.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERCC8 Gene

Human Gene Mutation Database (HGMD)
ERCC8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC8 Gene

Disorders for ERCC8 Gene

MalaCards: The human disease database

(19) MalaCards diseases for ERCC8 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cockayne syndrome a
  • csa
uv-sensitive syndrome 2
  • uvss2
cockayne syndrome b
  • csb
cockayne syndrome type iii
  • cockayne syndrome type 3
uv-sensitive syndrome
  • uv sensitive syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ERCC8 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERCC8_HUMAN
  • Cockayne syndrome A (CSA) [MIM:216400]: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. {ECO:0000269 PubMed:14661080, ECO:0000269 PubMed:15744458, ECO:0000269 PubMed:19894250}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • UV-sensitive syndrome 2 (UVSS2) [MIM:614621]: An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. {ECO:0000269 PubMed:19329487}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ERCC8

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ERCC8: view

No data available for Genatlas for ERCC8 Gene

Publications for ERCC8 Gene

  1. Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (PMID: 15744458) Ridley AJ … Jones CJ (Journal of human genetics 2005) 3 4 23
  2. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. (PMID: 7664335) Henning KA … Friedberg EC (Cell 1995) 3 4 23
  3. CSA and CSB play a role in the response to DNA breaks. (PMID: 29545921) Pascucci B … D'Errico M (Oncotarget 2018) 3 4
  4. The C-terminal Region and SUMOylation of Cockayne Syndrome Group B Protein Play Critical Roles in Transcription-coupled Nucleotide Excision Repair. (PMID: 26620705) Sin Y … Saijo M (The Journal of biological chemistry 2016) 3 4
  5. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. (PMID: 22466612) Zhang X … Tanaka K (Nature genetics 2012) 3 4

Products for ERCC8 Gene

Sources for ERCC8 Gene