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  3. See more
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    Wikipedia
    https://en.wikipedia.org/wiki/FANCD2

    FANCD2 | Wikipedia

    Fanconi anemia is a disorder with a recessive Mendelian pattern of inheritance characterized by chromosomal instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not … See more

    Overview

    Fanconi anemia group D2 protein is a protein that in humans is encoded by the FANCD2 gene. The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called … See more

    Clinical significance

    Tobacco smoke suppresses the expression of FANCD2, which codes for a DNA damage "caretaker" or repair mechanism. See more

    Further reading

    • Hejna JA, Timmers CD, Reifsteck C, Bruun DA, Lucas LW, Jakobs PM, et al. (May 2000). "Localization of the Fanconi anemia … See more

    Overview image
    Infertility

    Humans with a FANCD deficiency display hypogonadism, male infertility, impaired spermatogenesis, and reduced female fertility. Similarly, mice deficient in FANCD2 show hypogonadism, impaired fertility and impaired gametogenesis.
    In the non-mutant … See more

    Interactions

    FANCD2 has been shown to interact with:
    • FANCI
    • Ataxia telangiectasia mutated,
    • See more

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    Content
    Overview
    Infertility
    Clinical significance
    Interactions
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  4. Nature
    https://www.nature.com/articles/s41594-0…

    FANCD2–FANCI is a clamp stabilized on DNA by

    WEBFeb 17, 2020 · Together, our work suggests that FANCD2–FANCI is a clamp that is locked onto DNA by ubiquitin, with distinct interfaces that …

    • Author: Pablo Alcón, Shabih Shakeel, Zhuo A. Chen, Juri Rappsilber, Juri Rappsilber, Ketan J. Patel, Lori A....
    • Publish Year: 2020
  5. Nature
    https://www.nature.com/articles/s41586-024-07770-w

    FANCD2–FANCI surveys DNA and recognizes double- to single …

  6. Studies of fancd2 i
    National Center for Biotechnology Information
    The Fanconi Anemia/BRCA Pathway: FANCD2 at the Crossroad between Repair and Checkpoint Responses to DNA Damage
    In 1967 a Swiss physician, Guido Fanconi, reported his observations of a recessively inherited aplastic anemia in two brothers along with several other physical malformations.1 Fanconi anemia (FA) is a rare syndrome characterized by progressive pancytopenia,
    Author: Massimo Bogli…
    Published: 2013
    Affiliations: * Correspo…
    National Center for Biotechnology Information
    FANCD2 and DNA Damage - PMC - National Center for Biotechnology Information
    Investigators have dedicated considerable effort to understanding the molecular basis underlying Fanconi Anemia (FA), a rare human genetic disease featuring an extremely high incidence of cancer and many congenital defects. Among those studies, FA group
    Author: Manoj Nepal, …
    Published: 2017/08
    Publication: Int J Mol …
    PubMed
    Mechanism, specificity, and function of FANCD2-FANCI ubiquitination and deubiquitination
    Fanconi anemia (FA) is a rare genetic disorder caused by mutations in any of the currently 22 known FA genes. The products of these genes, along with other FA-associated proteins, participate in a biochemical pathway, known as the FA pathway. This pathway
    Author: Kimon Lemonidis
    Published: 2022/8
    Keywords: DNA repair…
    PubMed
    FANCD2 and DNA Damage - PubMed
    Investigators have dedicated considerable effort to understanding the molecular basis underlying Fanconi Anemia (FA), a rare human genetic disease featuring an extremely high incidence of cancer and many congenital defects. Among those studies, FA group
    Author: Manoj Nepal
    Published: 2017/08/19
    Keywords: DNA dama…
    National Center for Biotechnology Information
    Expression of FANCD2 is associated with prognosis in patients with nasopharyngeal carcinoma
    The relationship between Fanconi anemia complementation group D2 (FANCD2) and early diagnosis, pathogenesis, recurrence, and prognosis in patients with nasopharyngeal carcinoma (NPC) was investigated in a retrospective case-control study. The clinicopathological
    Author: Shengen Xu, F…
    Published: 2019
    Publication: Int J Clin …
  7. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/books/NBK6087

    The Fanconi Anemia/BRCA Pathway: FANCD2 at the …

    WEBAvailable data indicate that FANCD2 is involved in cell cycle regulation and DNA repair. Our current knowledge on the functional significance of FA …

    • Author: Massimo Bogliolo, Jordi Surrallés
    • Published: 2013
    • Publish Year: 2013
  8. Nature
    https://www.nature.com/articles/s42003-021-01647-8

    FANCD2 modulates the mitochondrial stress response to prevent …

  9. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5578191

    FANCD2 and DNA Damage - PMC | National Center for …

  10. People also ask
    What is FANCD2–FANCI?
    Together, our work suggests that FANCD2–FANCI is a clamp that is locked onto DNA by ubiquitin, with distinct interfaces that may recruit other DNA repair factors. Vertebrates repair DNA interstrand crosslinks through a complex and essential process 1.

    FANCD2–FANCI is a clamp stabilized on DNA by ... - Nature

    nature.com
    What does FANCD2 do?
    FANCD2 is a central node between repair and cell cycle response to DNA damage. A) In response to DNA damage induced by DNA crosslinkers, the FA nuclear complex activates FANCD2 monoubiquitination and, via FANCC, the RMN complex assembly. FANCD2, the RMN (more...)

    The Fanconi Anemia/BRCA Pathway: FANCD2 at the Crossroad betwee…

    ncbi.nlm.nih.gov
    How is FANCD2 cleaved?
    FANCD2 is cleaved specifically by caspase 3 during DNA damage-induced apoptosis. Mutations in FANCI that impair its DNA binding activity compromise DNA-stimulated FANCD2 monoubiquitination.

    2177 - Gene ResultFANCD2 FA complementation group D2 [ (human)] - …

    ncbi.nlm.nih.gov
    What diseases are associated with FANCD2?
    Diseases associated with FANCD2 include Fanconi Anemia, Complementation Group D2 and Fanconi Anemia, Complementation Group A . Among its related pathways are Gene expression (Transcription) and miRNA regulation of DNA damage response . Gene Ontology (GO) annotations related to this gene include binding and DNA polymerase binding .

    FANCD2 Gene - GeneCards | FACD2 Protein | FACD2 Antibody

    genecards.org
    Is there a link between FANCE and FANCD2?
    Direct interaction between FANCE and FANCD2 involving an amino-terminal region of FANCD2 was demonstrated; this interaction may provide a link between the FA protein complex and its downstream targets. Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair.

    2177 - Gene ResultFANCD2 FA complementation group D2 [ (human)] - …

    ncbi.nlm.nih.gov
    Where is FANCD2 expressed?
    In the non-mutant mouse, FANCD2 is expressed in spermatogonia, pre-leptotene spermatocytes, and in spermatocytes in the leptotene, zygotene and early pachytene stages of meiosis. In synaptonemal complexes of meiotic chromosomes, activated FANCD2 protein co-localizes with BRCA1 (breast cancer susceptibility protein).

    FANCD2 - Wikipedia

    en.wikipedia.org
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  11. PubMed
    https://pubmed.ncbi.nlm.nih.gov/34137174

    Mechanism, specificity, and function of FANCD2-FANCI ... | PubMed

  12. EMBO Press
    https://www.embopress.org/doi/full/10.152…

    Differential functions of FANCI and FANCD2

    WEBJun 8, 2020 · Our above results demonstrate separate functions for the two monoubiquitination events occurring on the ID2 complex. FANCD2 ubiquitination was found to modulate ID2‐dsDNA binding affinity, …

  13. PubMed
    https://pubmed.ncbi.nlm.nih.gov/28825622

    FANCD2 and DNA Damage | PubMed

  14. Cell Press
    https://www.cell.com/cell-reports/fulltext/S2211-1247(23)01622-4

    The FANCI/FANCD2 complex links DNA damage response to R …

  15. Nature
    https://www.nature.com/articles/s41594-022-00820-9

    The DNA-damage kinase ATR activates the FANCD2-FANCI …

  16. Science | AAAS
    https://www.science.org/doi/10.1126/science.1205805

    Structure of the FANCI-FANCD2 Complex: Insights into the

  17. Cell Press
    https://www.cell.com/cell-reports/fulltext/S2211-1247(14)00292-7

    FANCD2 Binds CtIP and Regulates DNA-End Resection during …

  18. Oxford Academic
    https://academic.oup.com/nar/article/45/20/11837/4559113

    FANCI and FANCD2 have common as well as independent …

  19. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/gene/2177

    FANCD2 FA complementation group D2 [ (human)] | National …

  20. Nature
    https://www.nature.com/articles/s41594-022-00826-3

    The key to the FANCD2–FANCI lock | Nature

  21. Science | AAAS
    https://www.science.org/doi/10.1126/science.1192656

    FAN1 Acts with FANCI-FANCD2 to Promote DNA Interstrand …

  22. Nature
    https://www.nature.com/articles/s41419-022-04952-0

    FANCD2 maintains replication fork stability during ... | Nature

  23. National Center for Biotechnology Information
    https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6949855

    Expression of FANCD2 is associated with prognosis in patients …

  24. GeneCards
    https://www.genecards.org/cgi-bin/carddisp.pl?gene=FANCD2

    FANCD2 Gene - GeneCards | FACD2 Protein | FACD2 Antibody

  25. Nature
    https://www.nature.com/articles/srep45626

    Fancd2 in vivo interaction network reveals a non-canonical role in ...

  26. Nature
    https://www.nature.com/articles/s41594-021-00602-9

    Fanconi anemia proteins participate in a break-induced ... | Nature

  27. Nature
    https://www.nature.com/articles/s42003-022-04360-2

    FANCD2 promotes mitotic rescue from transcription-mediated

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