RGD Reference Report - Positional cloning of a novel Fanconi anemia gene, FANCD2. - Rat Genome Database

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Positional cloning of a novel Fanconi anemia gene, FANCD2.

Authors: Timmers, C  Taniguchi, T  Hejna, J  Reifsteck, C  Lucas, L  Bruun, D  Thayer, M  Cox, B  Olson, S  D'Andrea, AD  Moses, R  Grompe, M 
Citation: Timmers C, etal., Mol Cell. 2001 Feb;7(2):241-8.
RGD ID: 1601137
Pubmed: PMID:11239453   (View Abstract at PubMed)

Fanconi anemia (FA) is a genetic disease with birth defects, bone marrow failure, and cancer susceptibility. To date, genes for five of the seven known complementation groups have been cloned. Complementation group D is heterogeneous, consisting of two distinct genes, FANCD1 and FANCD2. Here we report the positional cloning of FANCD2. The gene consists of 44 exons, encodes a novel 1451 amino acid nuclear protein, and has two protein isoforms. Similar to other FA proteins, the FANCD2 protein has no known functional domains, but unlike other known FA genes, FANCD2 is highly conserved in A. thaliana, C. elegans, and Drosophila. Retroviral transduction of the cloned FANCD2 cDNA into FA-D2 cells resulted in functional complementation of MMC sensitivity.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Fanconi anemia  IAGP 1601137DNA:missense mutations more ...RGD 
Fanconi anemia  ISOFANCD2 (Homo sapiens)1601137; 1601137DNA:missense mutations more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fancd2  (FA complementation group D2)

Genes (Mus musculus)
Fancd2  (Fanconi anemia, complementation group D2)

Genes (Homo sapiens)
FANCD2  (FA complementation group D2)


Additional Information