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
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 Uv-Sensitive Syndrome 2 and Cockayne Syndrome A. Among its related pathways are Ubiquitin mediated proteolysis and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and DNA-dependent ATPase activity.
UniProtKB/Swiss-Prot 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.
Additional gene information for ERCC8 Gene
- Monarch Initiative
- Search for ERCC8 at DataMed
- Search for ERCC8 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC8 Gene
Genomics for ERCC8 Gene
GeneHancer (GH) Regulatory Elements for ERCC8 Gene
Promoters and enhancers for ERCC8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around ERCC8 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ERCC8 gene promoter:
-
- MRF-2
- AML1a
- TBP
- Evi-1
- Sox5
- XBP-1
- HEN1
- Nkx2-2
- AREB6
- NF-YC
Regulatory Element Products
Genomic Locations for ERCC8 Gene
Genomic Locations for ERCC8 Gene
- chr5:60,873,831-60,945,078
- (GRCh38/hg38)
- Size:
- 71,248 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 Entrez Gene
- 5q12.1 by HGNC
- 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
- Novus Biologicals Antibodies for ERCC8
-
Abcam antibodies for ERCC8
- Invitrogen Antibodies for ERCC8
- GeneTex ERCC8 Antibody 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
- Search GeneTex for Proteins for ERCC8
-
Abcam proteins for ERCC8
Assay Products
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)
Graphical View of Domain Structure for InterPro Entry
No data available for 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.
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 | IDA | 12732143 |
| GO:0005515 | protein binding | IPI,IEA | 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:
-
- Moderately decreased NFAT1-GFP nuclear translocation
- Increased shRNA abundance (Z-score > 2)
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased shRNA abundance (Z-score < -2)
- Increased G1 length, increased G2 length
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased homologous recombination repair frequency
- Decreased NF-kappaB reporter expression
- shRNA abundance <= 50%
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
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
- Cyagen custom Knockout/knockin (KOKI) mouse models for ERCC8
-
CRISPR Products
-
OriGene CRISPR knockouts for ERCC8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC8
- genomics-online: gRNA clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
- Applied Biological Materials CRISPR for ERCC8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERCC8
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ERCC8
- VectorBuilder custom plasmid, inducible vectors for ERCC8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERCC8
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC8
- Applied Biological Materials Clones for ERCC8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 2 |
- Nuclear speckles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000109 | nucleotide-excision repair complex | IDA | 12732143 |
| GO:0005634 | nucleus | IDA | 11782547 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0016363 | nuclear matrix | IDA | 11782547 |
Pathways & Interactions for ERCC8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
| 2 | Nucleotide excision repair | ||
| 3 | Ubiquitin mediated proteolysis | ||
| 4 | Chks in Checkpoint Regulation | ||
| 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
UniProtKB/Swiss-Prot Q13216-ERCC8_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for ERCC8 Gene
Selected Interacting proteins:
ENSP00000265038
Q13216-ERCC8_HUMAN
for ERCC8 Gene via
STRING
MINT
UniProtKB
IID
GPS-Prot Interaction Network for ERCC8
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000209 | protein polyubiquitination | IDA | 12732143 |
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006283 | transcription-coupled nucleotide-excision repair | TAS,IDA | -- |
| GO:0006289 | nucleotide-excision repair | IMP | 17297471 |
| GO:0006974 | cellular response to DNA damage stimulus | IDA,IEA | 11782547 |
No data available for SIGNOR curated interactions for ERCC8 Gene
Transcripts for ERCC8 Gene
mRNA/cDNA for ERCC8 Gene
- (4) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (85) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000381118 2236 bps (uc063dwl.1)
- ENST00000265038 2017 bps (uc003jsm.4)
- ENST00000643034 2095 bps
- ENST00000462279 3424 bps (uc063dwm.1)
- ENST00000647431 2023 bps
Unigene Clusters for ERCC8 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ERCC8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC8
- genomics-online: gRNA clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
- Applied Biological Materials CRISPR for ERCC8
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ERCC8
- GenScript: Design CRISPR guide RNA sequences 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
- genomics-online: shRNA clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ERCC8
- VectorBuilder custom plasmid, inducible vectors for ERCC8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERCC8
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC8
- Applied Biological Materials Clones for ERCC8
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||||||||||||||
| SP2: | - | - | - | ||||||||||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||||||||||
| SP4: |
Expression 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
NURSA nuclear receptor signaling pathways regulating expression of ERCC8 Gene:
ERCC8SOURCE GeneReport for Unigene cluster for ERCC8 Gene:
Hs.435237Phenotype-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 and template standards for ERCC8
-
OriGene qPCR primer pairs for ERCC8
- genomics-online: primer clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES 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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ERCC8 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ERCC8 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ercc8 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ERCC8 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ercc8 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ERCC8 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ERCC8 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ercc8 33 |
|
||
| Str.20460 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.5566 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ercc8 34 33 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD28 36 34 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G19750 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os01g0857900 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ckn1 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.2623 34 |
|
OneToOne |
- Species where no ortholog for ERCC8 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)
- 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 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
No data available for Paralogs for ERCC8 Gene
Variants for ERCC8 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1043679457 | pathogenic, Cockayne syndrome type A | 60,927,745(-) | C/A/G | intron_variant | |
| rs121434323 | pathogenic, Cockayne syndrome type A | 60,890,964(-) | G/C/T | coding_sequence_variant, genic_downstream_transcript_variant, stop_gained | |
| rs121434324 | pathogenic, Cockayne syndrome type A | 60,944,972(-) | C/A | 5_prime_UTR_variant, coding_sequence_variant, stop_gained | |
| rs121434325 | pathogenic, likely-pathogenic, Cockayne syndrome type A, not provided, Cockayne syndrome A (CSA) [MIM:216400] | 60,904,794(-) | G/A | coding_sequence_variant, intron_variant, missense_variant | |
| rs121434326 | pathogenic, not-provided, Cockayne syndrome type A, not provided, Cockayne syndrome A (CSA) [MIM:216400] | 60,902,446(-) | C/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv598308 | CNV | gain | 21841781 |
| nsv520871 | CNV | loss | 19592680 |
| nsv462200 | CNV | loss | 19166990 |
| nsv462199 | CNV | gain | 19166990 |
| nsv1161251 | CNV | deletion | 26073780 |
| nsv1161250 | CNV | deletion | 26073780 |
| nsv1077987 | CNV | duplication | 25765185 |
| nsv1025896 | CNV | loss | 25217958 |
| esv3605199 | CNV | loss | 21293372 |
| esv2762523 | CNV | loss | 21179565 |
| esv2673115 | CNV | deletion | 23128226 |
| dgv9811n54 | CNV | loss | 21841781 |
| dgv9810n54 | CNV | loss | 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
(11) MalaCards diseases for ERCC8 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| uv-sensitive syndrome 2 |
|
|
| cockayne syndrome a |
|
|
| cockayne syndrome type i |
|
|
| cockayne syndrome type iii |
|
|
| cockayne syndrome type ii |
|
|
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
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 22 58
- 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 22 58
- 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 58
- Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PMID: 20496165) Monsees GM … Han J (Breast cancer research and treatment 2011) 3 44 58
- Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. (PMID: 19894250) Laugel V … Dollfus H (Human mutation 2010) 3 4 58
Products for ERCC8 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for ERCC8
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ERCC8
- Search Origene for MassSpec and Protein Over-expression Lysates for ERCC8
- Origene Custom Protein Services for ERCC8
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ERCC8
- Browse OriGene Inhibitory RNA Products For ERCC8
- OriGene qPCR primer pairs and template standards for ERCC8
- OriGene qPCR primer pairs for ERCC8
- OriGene CRISPR knockouts for ERCC8
- OriGene ORF clones in human for ERCC8
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ERCC8
- GenScript: Next-day shipping of latest version cDNA ORF clones for ERCC8 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ERCC8
- GenScript Custom Assay Services for ERCC8
- GenScript Custom overexpressing Cell Line Services for ERCC8
- GenScript: Design CRISPR guide RNA sequences for ERCC8
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ERCC8
- Sino Biological Human cDNA Clone for ERCC8
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for ERCC8
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for ERCC8
- Novus Biologicals proteins and lysates for ERCC8
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for ERCC8
- Abcam proteins for ERCC8
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Cyagen custom Knockout/knockin (KOKI) mouse models for ERCC8
- VectorBuilder custom plasmid, inducible vectors for ERCC8
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ERCC8
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 97 available ERCC8 Antibodies ranked by validation data
- Compare Top ERCC8 Antibodies
- antibodies-online: Search results for available ERCC8 related products ranked by validation data
- antibodies-online: Search results for 6 available ERCC8 Proteins ranked by validation data
- Compare Top ERCC8 Proteins
- GeneTex ERCC8 Antibody for ERCC8
- Search GeneTex for Proteins for ERCC8
- Santa Cruz Biotechnology (SCBT) Antibodies for ERCC8
- Search Santa Cruz Biotechnology (SCBT) for ERCC8 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ERCC8
- Horizon Cell Lines for ERCC8
- genomics-online: cdna clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
- orf clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
- genomics-online: gRNA clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
- genomics-online: primer clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
- genomics-online: shRNA clones - Search results for 95 available ERCC8 gene related products
- Overview of 95 available ERCC8 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ERCC8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ERCC8
- GeneCopoeia miRNA 3'UTR Target clone products for ERCC8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ERCC8
Sources for ERCC8 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt