Fanconi Anemia Group D2 Protein

Preferred Label : Fanconi Anemia Group D2 Protein;

NCIt synonyms : Protein FACD2; FANCD2;

NCIt definition : Fanconi anemia group D2 protein (1471 aa, 166 kDa) is encoded by the human FANCD2 gene. This protein plays a role in chromosome pairing during meiosis, repair of DNA double-strand breaks and cell cycle checkpoint regulation.;

Details

Origin ID

C85886;

UMLS CUI

C1568210;

Automatic exact mappings (from CISMeF team)
- Fancd2 gene [OMIM gene]
- Fanconi anemia complementation group D2 [DO Concept]
- Fanconi anemia, complementation group d2 [OMIM Phenotype]
Currated CISMeF NLP mapping
- FA complementation group D2 [ORDO Gene]
- fanconi anemia complementation group D2 protein [MeSH concept]
- fanconi anemia complementation group D2 protein [MeSH Descriptor]
OMIM relation
- Fancd2 gene [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- FA complementation group D2 [ORDO Gene]
- FANCD2 protein, human [MeSH Supplementary Concept]
- FANCD2 protein, human [MeSH concept]
- fanconi anemia complementation group D2 protein [MeSH concept]
- fanconi anemia complementation group D2 protein [MeSH Descriptor]
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]
- FANCD2 Gene [NCIt concept]
gene_product_has_biochemical_function
- Fanconi Anemia Complementation Group Protein [NCIt concept]
gene_product_is_element_in_pathway
- BARD1 Pathway [NCIt concept]
- BARD1 Signaling Pathway [NCIt concept]
- Cancer Susceptibility Pathway [NCIt concept]
gene_product_malfunction_associated_with_disease
- Fanconi Anemia [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Cycle Regulation Process [NCIt concept]
- DNA Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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