DDB2 wt Allele

Preferred Label : DDB2 wt Allele;

NCIt synonyms : FLJ34321; UV-DDB2; Xeroderma Pigmentosum Group E Protein Gene; DDB P48 Subunit Gene; Damage-Specific DNA Binding Protein 2, 48kDa wt Allele; DDBB; UV-Damaged DNA-Binding Protein 2 Gene; XPE;

NCIt definition : Human DDB2 wild-type allele is located within 11p12-p11 and is approximately 24 kb in length. This allele, which encodes DNA damage-binding protein 2, is involved in DNA repair. Mutation of the gene is associated with xeroderma pigmentosum complementation group E.;

GenBank Accession Number : NM_000107;

Details

Origin ID

C93076;

UMLS CUI

C2985424;

OMIM relation
- Dna damage-binding protein 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Xeroderma Pigmentosum [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11p12-p11 [NCIt concept]
gene_is_element_in_pathway
- Nucleotide Excision Repair Pathway [NCIt concept]
- Ubiquitin-mediated Proteolysis Pathway [NCIt concept]
- p53 Effector Pathway [NCIt concept]
- p53 Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- DNA Repair [NCIt concept]
- Nucleotide Excision Repair [NCIt concept]
- Polyubiquitination [NCIt concept]

Keyword's position in hierarchy(ies) :

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