Target intelligence / Profile preview

Fanconi anemia group D2 protein (FANCD2)

Target
FANCD2
Molecular classification
DNA repair protein, Fanconi anemia pathway component, Ubiquitin pathway substrate
01

Overview

The Fanconi anemia group D2 protein (FANCD2) is a core component of the Fanconi anemia DNA repair pathway, which detects and repairs DNA interstrand cross-links—a particularly cytotoxic form of DNA damage. Upon DNA damage, FANCD2 forms a heterodimer with FANCI, and is subsequently monoubiquitinated by the Fanconi anemia (FA) core complex. This modification enables the complex to recruit downstream DNA repair factors to chromatin and coordinate repair, preserving genomic stability. Mutations in the FANCD2 gene cause Fanconi anemia (FA), characterized by progressive bone marrow failure and increased cancer risk. The term "opposite strand" does not refer to any recognized molecular entity and is likely an annotation artifact rather than a legitimate therapeutic target.

Other names
Fanconi anemia group D2FA-D2
02

Mechanism of action

For the pathway: monoubiquitination of FANCD2 (and FANCI) initiates repair of DNA interstrand cross-links

03

Biological functions

DNA damage recognition and repairMonoubiquitination (key post-translational modification)Recruitment of repair complexes to DNA interstrand crosslinksMaintenance of genomic stability
04

Disease associations

Fanconi anemia (bone marrow failure syndrome)Cancer (mutation in FANCD2 is linked to cancer predisposition)
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Safety considerations

Defects in FANCD2 lead to heightened genomic instability, cancer predisposition, and bone marrow failure.Targeting this pathway for therapy may raise concerns about bone marrow suppression and hematologic toxicity
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Biomarkers

FANCD2 monoubiquitination status is used as a biomarker for Fanconi anemia pathway functionality

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