help  | about  | cite  | software

Gene : ERCC8 Homo sapiens

Name  ? ERCC excision repair 8, CSA ubiquitin ligase complex subunit Cytological Location  5q12.1
Brief Description  ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Description  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]
  • synonyms:
  • Cockayne syndrome 1 (classical),
  • CKN1,
  • ERCC8,
  • CKN1,
  • excision repair cross-complementing rodent repair deficiency, complementation group 8,
  • NM_000082,
  • U28413,
  • CSA,
  • OTTHUMG00000097741,
  • CSA,
  • uc003jsm.4,
  • excision repair cross-complementation group 8,
  • UVSS2,
  • HGNC:3439
  • identifiers:
  • 1161,
  • ENSG00000049167,
  • ERCC8

Genome feature

Region: gene ? Length: 78625  
Location: 5:60866454-60945078 reverse strand Cyto location: 5q12.1


Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer

Function

Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

2 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

Homologue Displayer

Interactions

Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results