FANCD2 wt Allele

Preferred Label : FANCD2 wt Allele;

NCIt synonyms : FA-D2; FA4; FAD; FANCD; FLJ23826; FACD; DKFZp762A223; FAD2; FA Complementation Group D2 wt Allele; Fanconi Anemia, Complementation Group D2 Gene; Fanconi Anemia Complementation Group D2 Gene;

NCIt definition : Human FANCD2 wild-type allele is located in the vicinity of 3p26 and is approximately 76 kb in length. This allele, which encodes Fanconi anemia group D2 protein, plays a role in the mediation of homolog pairing in meiosis, cell cycle checkpoint regulation and the modulation of DNA repair. Mutation of the gene is associated with Fanconi anemia.;

GenBank Accession Number : AF340183;

Details

Origin ID

C86550;

UMLS CUI

C2828054;

OMIM relation
- Fancd2 gene [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_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Fanconi Anemia, Complementation Group D2 [NCIt concept]
gene_is_element_in_pathway
- BARD1 Pathway [NCIt concept]
- BARD1 Signaling Pathway [NCIt concept]
- Cancer Susceptibility Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Regulation Process [NCIt concept]
- DNA Maintenance [NCIt concept]
- DNA Repair [NCIt concept]

Keyword's position in hierarchy(ies) :

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