Partner and Localizer of BRCA2

Preferred Label : Partner and Localizer of BRCA2;

NCIt synonyms : FANCN protein; PALB2;

NCIt definition : Partner and localizer of BRCA2 (1186 aa, 131 kDa) is encoded by the human PALB2 gene. This protein may play roles in cell cycle checkpoints and the repair of damaged DNA resolved by recombination.;

Details

Origin ID

C84991;

UMLS CUI

C1744034;

OMIM relation
- Partner and localizer of brca2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- PALB2 protein, human [MeSH Supplementary Concept]
- PALB2 protein, human [MeSH concept]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- DNA Repair Gene [NCIt concept]
- PALB2 Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleoplasm [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
- Fanconi Anemia Complementation Group Protein [NCIt concept]
gene_product_has_gene_product_variant
- PALB2 Protein Variant [NCIt concept]
gene_product_has_structural_domain_or_motif
- WD Repeat [NCIt concept]
gene_product_malfunction_associated_with_disease
- Fanconi Anemia [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- DNA Repair [NCIt concept]
- Recombination Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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