|
ORF cDNA clones
|
CRISPR / TALEN
|
Lentivirus
|
AAV
|
TALE-TF
|
ORF knockin clones
|
|
Antibody
|
Proteins
|
miRNA target clones
|
qPCR primers
|
shRNA clones
|
miRNA products
|
Promoter clones
|
Validated All-in-One™ qPCR Primer for FANCD2(NM_033084.6) Search again
Powered by BiozBy default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair.
Gene References into function
- may be a branch point in DNA damage response
- interacts with BRCA1 and RAD51 in S phase cell lines
- NBS1 and FANCD2 cooperate in two distinct cellular functions, one involved in the DNA crosslink response and one involved in the S-phase checkpoint response
- 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.
- Fancd2 is essential during embryogenesis to prevent inappropriate apoptosis in neural cells and other tissues undergoing high levels of proliferative expansion, implicating this mechanism in the congenital abnormalities observed in human infants with FA.
- The transient slow-down of DNA synthesis was abolished in cells lacking ATR, whereas CHK1-siRNA-treated cells, NBS1 or Fanconi anemia cells showed partial S-phase arrest.
- FANCD2 may have a role in the cellular response to stalled replication forks or in the repair of replication-associated double-strand breaks, irrespective of the type of primary DNA lesion
- Bloom syndrome protein and FANCD2 colocalise and co-immunoprecipitate following treatment with either DNA crosslinkers or agents inducing replication arrest
- ATR checkpoint kinase and RPA1 are required for efficient FANCD2 monoubiquitination
- FANCD2, which is activated by the Fanconi anemia complex, is required to maintain the G2 checkpoint
- The carboxy terminus of FANCD2-44 plays a critical role in sensing or repairing DNA damage.
- Human Fanconi anemia monoubiquitination pathway promotes homologous DNA repair.
- FANCD2 mediates double strand DNA break repair independently of BRCA2- and Rad51-associated homologous recombination
- FANCD2 bound to DNA with specificity for certain structures: double strand DNA ends and Holliday junctions
- FANCD2 mutations were also common in Microsatellite instability+ Therapy-related acute myeloid leukemia/myelodysplastic syndrome
- FANCC, FANCE, and FANCD2 form a ternary complex in the Fanconi anemia DNA damage response pathway
- FANCL, via its WD40 region, binds the FA complex and, via its PHD, recruits an as-yet-unidentified E2 for mono-ubiquitination of FANCD2
- FANCD2 single nucleotide polymorphisms may be associated with sporadic breast cancer risk
- These findings support the functional connection of ATM/ATR kinases and FANCD2 in the DNA damage response and support a role for the FA pathway in the coordination of the S phase of the cell cycle.
- FANCD2 expression is absent in 10-20% of sporadic and BRCA1-related breast cancers, indicating that somatic inactivating (epi)genetic events in FANCD2 may be important in both sporadic and hereditary breast carcinogenesis
- total absence of FANCD2 does not exist in FA-D2 patients, because of constraints on viable combinations of FANCD2 mutations
- Knocking-down FANCD2 gene expression increases sensitivity of cancer cells to mitomycin C and to less extent to gamma-rays. Cell lines with significant FANCD2 depletion revealed decreased recurrence capacity.
- Study found that Fanconi anemia pathway activation is triggered mainly by the HPV type 16 (HPV-16) E7 oncoprotein and is associated with an enhanced formation of large FANCD2 foci and recruitment of FANCD2 as well as FANCD1/BRCA2 to chromatin.
- Loss of CHK1 function impedes DNA dmage-induced FANCD2 monoubiquitination but normalizes the abnormal G2 arrest in Fanconi anemia.
- FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3.
- chromatin remodeling protein, Tip60, interacts directly with the FANCD2 protein
- Snm1B interacts with the Mre11-Rad50-Nbs1 (MRN) complex and with FancD2 further substantiating its role as a checkpoint/DNA repair protein.
- Carcinogen-mediated suppression of FANCD2 gene expression provides a plausible molecular mechanism for CIN in bronchogenic carcinogenesis.
- In contrast to other DNA damaging agents, ethanol/acetaldehyde generated DNA strand breaks without inducing ubiquitination of FANCD2, despite increasing protein levels in the nucleus.
- Following ERCC1 depletion, FANCD2-Ub formation is reduced and FANCD2 foci are eliminated.
- Resutls show a role of FANCD2 in ALT, evidence shows that knockdown of FANCD2 rapidly causes telomere dysfunction in cells that rely on ALT to maintain telomeres.