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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
External Ids for ERCC8 Gene
- HGNC: 3439
- Entrez Gene: 1161
- Ensembl: ENSG00000049167
- OMIM: 609412
- UniProtKB: Q13216
Previous HGNC Symbols for ERCC8 Gene
- CKN1
Previous GeneCards Identifiers for ERCC8 Gene
- GC00U990095
- GC05M060206
- GC05M060169
- GC05M057127
- GC05M060873
Summaries 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).
Additional gene information for ERCC8 Gene
- HGNC(3439)
- Entrez Gene(1161)
- Ensembl(ENSG00000049167)
- OMIM(609412)
- UniProtKB(Q13216)
- Open Targets Platform(ENSG00000049167)
- Monarch Initiative
- Search for ERCC8 at DataMed
- Search for ERCC8 at HumanCyc
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
- 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:
-
- 5q12.1 by HGNC
- 5q12.1 by Entrez Gene
- 5q12.1 by Ensembl
ERCC8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for ERCC8 Gene
Post-translational modifications for ERCC8 Gene
Other Protein References for ERCC8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CSA / ERCC8 Antibody
- HUABIO Anti-ERCC8 Antibody
- Novus Biologicals Antibodies for ERCC8
-
Abcam antibodies for ERCC8
- Invitrogen Antibodies for ERCC8 (AFLGC-ERCC8)
-
Boster Bio Antibodies for ERCC8
-
Santa Cruz Biotechnology (SCBT) Antibodies for ERCC8
- Sino Biological Antibodies for ERCC8
Protein Products
-
OriGene Purified Proteins for ERCC8
- Search Origene for MassSpec and Protein Over-expression Lysates for ERCC8
- Origene Custom Protein Services for ERCC8
-
Abcam proteins for ERCC8
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
- InterPro:
- Blocks:
-
- G-protein beta WD-40 repeat signature
- ProtoNet:
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)
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
| 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 |
Phenotypes for ERCC8 Gene
- MGI mutant phenotypes for ERCC8:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ERCC8:
-
- no effect
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Decreased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Decreased viability of wild-type and TP53 knockout cells
- Decreased NF-kappaB reporter expression
- Weakly decreased NFAT1-GFP nuclear translocation
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased homologous recombination repair frequency
- Increased viability with MLN4924 (a NAE inhibitor)
- Increased G1 length
- Increased S length
Animal Models for ERCC8 Gene
- MGI Knock Outs for ERCC8:
-
- Ercc8 Ercc8<tm1Jhjh>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ERCC8 - Select products 50% OFF >
- * ERCC8 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ERCC8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC8
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERCC8
miRNA for ERCC8 Gene
- miRTarBase miRNAs that target ERCC8
-
- hsa-miR-521 (MIRT005022)
- hsa-miR-26b-5p (MIRT029207)
- hsa-miR-1261 (MIRT526868)
- hsa-miR-4789-5p (MIRT526869)
- hsa-miR-563 (MIRT526870)
- hsa-miR-380-5p (MIRT526871)
- hsa-miR-4790-3p (MIRT526872)
- hsa-miR-7852-3p (MIRT526873)
- hsa-miR-758-5p (MIRT526874)
- hsa-miR-186-5p (MIRT526875)
- hsa-miR-3133 (MIRT526876)
- hsa-miR-6738-3p (MIRT560088)
- hsa-miR-544a (MIRT560089)
- hsa-miR-4653-3p (MIRT560090)
- hsa-miR-6077 (MIRT560091)
- hsa-miR-7-5p (MIRT560092)
- hsa-miR-2276-3p (MIRT560093)
- hsa-miR-4645-3p (MIRT560094)
- hsa-miR-4772-3p (MIRT560095)
- hsa-miR-6514-5p (MIRT560096)
- hsa-miR-4802-5p (MIRT560097)
- hsa-miR-3688-3p (MIRT560098)
- hsa-miR-144-3p (MIRT560099)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERCC8
- Browse OriGene Inhibitory RNA Products For ERCC8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC8
Clone Products
- Applied Biological Materials (abm): Clones for ERCC8 - Select products 50% OFF >
- * ERCC8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206229
- MR206229
- MR206229L3
- MR206229L4
- RC203124
- RC203124L3
- RC203124L4
- RC214392
- RC214392L1
- RC214392L2
- RC214392L3
- RC214392L4
- RC236876
- RG203124
- RG214392
- RR214790
- RR214790L3
- RR214790L4
- MR206229L3V
- MR206229L4V
- RC203124L3V
- RC203124L4V
- RC214392L1V
- RC214392L2V
- RC214392L3V
- RC214392L4V
- RR214790L3V
- RR214790L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ERCC8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC8
Cell Line Products
-
Horizon Cell Lines 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| lysosome | 1 |
- Nuclear speckles (2)
| 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 |
Pathways & Interactions for ERCC8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
| 2 | Nucleotide excision repair |
Nucleotide Excision Repair Pathway
.39
|
|
| 3 | Ubiquitin mediated proteolysis | ||
| 4 | Chks in Checkpoint Regulation |
DNA Repair Mechanisms
.31
|
|
| 5 | DNA Double-Strand Break Repair |
.53
|
|
Pathways by source for ERCC8 Gene
6 Reactome pathways for ERCC8 Gene
2 KEGG pathways 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.
Interacting Proteins for ERCC8 Gene
Selected Interacting proteins:
Q13216-ERCC8_HUMAN
ENSP00000265038
for ERCC8 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ERCC8
| 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 |
No data available for SIGNOR curated interactions for ERCC8 Gene
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 :
-
- ENST00000265038 2017 nts (view in UCSC)
- ENST00000381118 2236 nts (view in UCSC)
- ENST00000439176 684 nts (view in UCSC)
- ENST00000462279 3424 nts (view in UCSC)
- ENST00000477893 752 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ERCC8 - Select products 50% OFF >
- * ERCC8 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ERCC8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC8
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERCC8
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERCC8
- Browse OriGene Inhibitory RNA Products For ERCC8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC8
Clone Products
- Applied Biological Materials (abm): Clones for ERCC8 - Select products 50% OFF >
- * ERCC8 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206229
- MR206229
- MR206229L3
- MR206229L4
- RC203124
- RC203124L3
- RC203124L4
- RC214392
- RC214392L1
- RC214392L2
- RC214392L3
- RC214392L4
- RC236876
- RG203124
- RG214392
- RR214790
- RR214790L3
- RR214790L4
- MR206229L3V
- MR206229L4V
- RC203124L3V
- RC203124L4V
- RC214392L1V
- RC214392L2V
- RC214392L3V
- RC214392L4V
- RR214790L3V
- RR214790L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ERCC8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC8
| 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 embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ERCC8
SOURCE GeneReport for Unigene cluster for ERCC8 Gene:
Hs.435237Evidence 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
Primer Products
-
OriGene qPCR primer pairs for ERCC8
-
OriGene qPCR primer pairs and template standards for ERCC8
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ERCC8 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ERCC8 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ERCC8 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ercc8 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ERCC8 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ercc8 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ERCC8 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ERCC8 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ercc8 30 |
|
||
| Str.20460 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.5566 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ercc8 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD28 31 33 33 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G19750 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os01g0857900 30 |
|
||
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ckn1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2623 31 |
|
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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC8 Gene
Disorders for ERCC8 Gene
(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 |
|
|
| uv-sensitive syndrome 2 |
|
|
| cockayne syndrome b |
|
|
| cockayne syndrome type iii |
|
|
| uv-sensitive syndrome |
|
|
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
No data available for Genatlas for ERCC8 Gene
Publications for ERCC8 Gene
- 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
- 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
- CSA and CSB play a role in the response to DNA breaks. (PMID: 29545921) Pascucci B … D'Errico M (Oncotarget 2018) 3 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
- 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
ExternalLinks
Products for ERCC8 Gene
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Sources for ERCC8 Gene
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