Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:XPD
|
| gptkbp:associatedWith |
gptkb:Cockayne_syndrome
gptkb:trichothiodystrophy gptkb:xeroderma_pigmentosum |
| gptkbp:discoveredBy |
Jean-Marc Egly
|
| gptkbp:encodes |
DNA excision repair protein ERCC-2
|
| gptkbp:Entrez_Gene_ID |
2068
ENSG00000104884 |
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:hasBiologicalActivity |
DNA helicase activity
|
| gptkbp:HGNC_ID |
3434
|
| https://www.w3.org/2000/01/rdf-schema#label |
ERCC2
|
| gptkbp:involvedIn |
nucleotide excision repair
|
| gptkbp:locatedOnChromosome |
19q13.32
|
| gptkbp:memberOf |
TFIIH complex
|
| gptkbp:mutationAssociatedWith |
increased cancer risk
|
| gptkbp:OMIM |
126340
|
| gptkbp:orthologInMouse |
Ercc2
|
| gptkbp:RefSeq |
NM_000400
|
| gptkbp:UniProtID |
P18074
|
| gptkbp:bfsParent |
gptkb:XPD
|
| gptkbp:bfsLayer |
7
|