PALB2 wt Allele

Preferred Label : PALB2 wt Allele;

NCIt synonyms : FANCN; Partner and Localizer of BRCA2 wt Allele; DKFZp667I166; DKFZp686E1054; PNCA3; FLJ21816; Fanconi Anemia, Complementation Group N Gene;

NCIt definition : Human PALB2 wt allele is located in the vicinity of 16p12.1 and is approximately 38 kb in length. This allele, which encodes partner and localizer of BRCA2 protein, may play roles in the repair of damaged DNA and DNA damage-induced checkpoints. Mutations in this gene are associated with about 3% of pancreatic carcinomas.;

GenBank Accession Number : NM_024675;

Details

Origin ID

C84946;

UMLS CUI

C2827559;

OMIM relation
- Partner and localizer of brca2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 16p12.1 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fanconi Anemia, Complementation Group N [NCIt concept]
- PALB2-Associated Breast Carcinoma [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Recombination Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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