FANCD2 Antibody
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货号:CSB-PA008416GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q9BXW9
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基因名:FANCD2
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别名:DKFZp762A223 antibody; FA 4 antibody; FA D2 antibody; FA4 antibody; FAC D2 antibody; FACD 2 antibody; FACD antibody; FACD2 antibody; FACD2_HUMAN antibody; FAD antibody; FAD2 antibody; FANC D2 antibody; FANCD 2 antibody; FANCD antibody; FANCD2 antibody; FANCONI ANEMIA COMPLEMENTATION GROUP D antibody; Fanconi anemia complementation group D2 antibody; Fanconi anemia group D2 protein antibody; FANCONI PANCYTOPENIA TYPE 4 antibody; FLJ23826 antibody; OTTHUMP00000158853 antibody; OTTHUMP00000207925 antibody; Protein FACD2 antibody; Type 4 Fanconi pancytopenia antibody
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宿主:Rabbit
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反应种属:Human,Mouse,Rat
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免疫原:Human FANCD2
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免疫原种属:Homo sapiens (Human)
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抗体亚型:IgG
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纯化方式:Antigen Affinity purified
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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产品提供形式:Liquid
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应用范围:ELISA,WB,IHC
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Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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靶点详情
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功能:Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress. Required for the targeting, or stabilization, of BLM to non-centromeric abnormal structures induced by replicative stress. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.
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基因功能参考文献:
- Study reports the first structural insight into the human FANCD2-FANCI complex by obtaining the cryo-EM structure. The complex contains an inner cavity, large enough to accommodate a double-stranded DNA helix, as well as a protruding Tower domain. Disease-causing mutations in the Tower domain are observed in several Fanconi anemia patients. PMID: 27405460
- Our results indicate a potential role in breast cancer predisposition for heterozygous truncating mutations in FANCD2 and TEX15. Based on our results, FANCD2 c.2715 + 1G > A might act as a moderate breast cancer risk allele, adding FANCD2 to the list of shared genes between FA and breast cancer. PMID: 28386063
- demonstrate that the FANC pathway acts downstream MiTF and establish the existence of an epistatic relationship between MiTF and the FANC pathway PMID: 27827420
- we discuss the recent and relevant studies to provide an updated review on the roles of FANCD2 in the DNA damage response. PMID: 28825622
- FANCI phosphorylation activates the FANCI/D2 complex. PMID: 28636932
- FANCD2 and PALB2, as indicators of the upstream and downstream arms, respectively, colocalize independently of each other in response to DNA damage. PMID: 27277787
- FANCD2 has a ubiquitination-independent role in countering endogenous levels of replication stress, a function that is critical for the maintenance of genomic stability. PMID: 29021208
- Data suggest that FANCI and FANCD2 have partially non-overlapping and possibly even opposing roles during the replication stress response. PMID: 29059323
- Fanconi anemia FANCD2 and FANCI proteins regulate the nuclear dynamics of splicing factors, such as SF3B1. PMID: 29030393
- People with Fanconi anemia, or healthy people who develop sporadic mutations in FANCD2, may be hypersensitive to the carcinogenic activity of coffee. PMID: 27399778
- Results indicate the importance of DNA binding and nuclear localization sequences (NLS) residues in Fanconi Anemia Group D2 Protein (FANCD2) to activate an efficient Fanconi anemia (FA) pathway. PMID: 28666371
- FANCB dimer coordinates FANCD2:FANCI monoubiquitination by two FANCL RING-ligases. Deubiquitination of FANCD2:FANCI by USP1:UAF1 occurs only when DNA is removed. PMID: 27986371
- These results reveal a synthetic lethal relationship between FANCD2 and BRCA1/2. PMID: 27264184
- these findings provide a previously unrecognized central player FANCD2-V2 and thus novel insights into human tumorigenesis, and indicate that V2/V1 can act as an effective biomarker in assisting the recognition of tumor malignance PMID: 28157704
- The data demonstrate that FANCD2 protein is required to ensure efficient chromosome fragile sites (CFS) replication and provide mechanistic insight into how FANCD2 regulates CFS stability. PMID: 27768874
- A breakdown in a BRCA/FANCD2/BRG1/SNF-DeltaNP63-mediated DNA repair and differentiation maintenance process in mammary epithelial cells may contribute to sporadic breast cancer development. PMID: 27373334
- High FANCD2 expression is associated with drug Resistance in Malignant Melanoma. PMID: 26980768
- study demonstrates that Fanconi anemia pathway component FANCD2 is recruited to HPV DNA, associates with members of the ATM DNA repair pathway, and is essential for the maintenance of viral episomes in basal epithelial cells PMID: 28196964
- in Alternative Lengthening of Telomeres cells, FANCD2 promotes intramolecular resolution of stalled replication forks in telomeric DNA while BLM facilitates their resection and subsequent involvement in the intermolecular exchanges that drive Alternative Lengthening of Telomeres. PMID: 27427384
- A new role of FANCD2 in limiting constitutive replication stress in BRCA2-deficient cells, thereby affecting cell survival and treatment responses. PMID: 27322732
- Collectively, these findings indicate that FANCD2 plays a novel role in the negative regulation of ferroptosis. FANCD2 could represent an amenable target for the development of novel anticancer therapies aiming to reduce the side effects of ferroptosis inducers. PMID: 27773819
- In both patient and knockout cell lines reduced localisation of BLM to ultra fine DNA bridges and FANCD2 at foci linking bridges are observed. Overall, loss of RMI2 produces a partially active BLM complex with mild features of Bloom syndrome. PMID: 27977684
- FANCD2 may have a role in progression of hepatocellular carcinoma PMID: 28314268
- Alpha-spectrin is critical for recruitment of non-ubiquitinated FANCD2 to sites of damage, which has an important role in the repair response and interstrand cross-link repair. PMID: 26297932
- FANCJ protein is important for the stability of FANCD2/FANCI proteins and protects them from proteasome and caspase-3 dependent degradation. PMID: 26336824
- Using small interfering RNA (siRNA), knockdown of FANCF, FANCL, or FANCD2 inhibited function of the FA/BRCA pathway in A549, A549/DDP and SK-MES-1 cells, and potentiated sensitivity of the three cells to cisplatin. PMID: 26385482
- while dispensable for cell survival, FANCD2 selectively safeguards chromosomal stability after UV-triggered replication stress PMID: 26765540
- These findings indicate that FANCI functions upstream of FA core complex recruitment independently of FANCD2, and alter the current view of the FA-BRCA pathway. PMID: 26430909
- FANCD2 is a key factor in genome stability maintenance in response to high-LET radiation PMID: 26083937
- describe a mechanism of interstrand crosslink (ICL) sensing and propose that UHRF1 is a critical factor that binds to ICLs. In turn, this binding is necessary for the subsequent recruitment of FANCD2, which allows the DNA repair process to initiate PMID: 25801034
- Defective FANCI binding is associated with fanconi anemia-related FANCD2 mutant. PMID: 25489943
- FANCD2 expression levels are strongly associated with tumour grade, revealing a potential exploitable therapeutic window to allow inhibition of the FA pathway in tumour cells, whilst sparing normal brain tissue. PMID: 25071006
- FANCJ and BRCA2 share FANCD2's role in replication fork restart. PMID: 25659033
- these purification methods for human FANCI and FANCD2 provide novel procedures to facilitate structural and biochemical studies of human FANCI and FANCD2. PMID: 25168188
- Celastrol is a FANCD2 inhibitor that could interfere with the monoubiquitination and protein stability of FANCD2. PMID: 25891850
- FANCD2 may have a significant role in the radiation resistance and virulence of alveolar rhabdomyosarcoma. PMID: 24787670
- FANCD2 plays a role in gemcitabine drug resistance in biliary tract cancer. PMID: 25736055
- By inhibiting the monoubiquitination and nuclear foci formation of FANCD2, curcumin enhances DDP-induced growth inhibitory effect and cell apoptosis in A549/DDP cells. PMID: 25542235
- Data indicate that FANCD2 primes CtIP-dependent resection during HR after ICL induction but that CtIP helps prevent illegitimate recombination in FA cells. PMID: 24794434
- Our results suggest not only that FANCD2 regulates FANCJ chromatin localization but also that FANCJ is necessary for efficient loading of FANCD2 onto chromatin following DNA damage caused by mitomycin C treatment. PMID: 25070891
- The assessment of FANCD2, RAD51, BRCA1 and BRIP1 nuclear proteins could provide important information about the patients at risk for treatment failure. PMID: 24708616
- Study identified CtIP as a novel interaction partner of FANCD2. CtIP binds and stabilizes FANCD2 in a DNA damage- and FA core complex-independent manner, suggesting that FANCD2 monoubiquitination is dispensable for its interaction with CtIP. PMID: 24556218
- Our results demonstrate that the monoubiquitinated FANCD2 in each S-phase of normal cell cycle is required to maintain an enough number of licensed origins to initiate the normal DNA replication. PMID: 24658369
- Our studies reveal a previously unknown mechanism for the coordinate nuclear import of a subset of FANCD2 and FANCI, a key early step in the cellular ICL response. PMID: 24278431
- Results indicate that FANCD2 restricts inappropriate access of FAN1 to stalled forks to prevent degradation of nascent DNA strands. PMID: 25135477
- FANCD2 is cleaved specifically by caspase 3 during DNA damage-induced apoptosis. PMID: 25176410
- Mutations in FANCI that impair its DNA binding activity compromise DNA-stimulated FANCD2 monoubiquitination. PMID: 24623813
- Results document a novel role of an inactivated FANCD2 in upregulating DeltaNp63, advancing our understanding of how an impaired FA pathway contributes to the pathogenesis of human cancer. PMID: 23965832
- a phenylalanine located at the highly conserved extreme C terminus, referred to as Phe-522, is a critical residue for mediating the monoubiquitination of the FANCD2-FANCI complex. PMID: 24451376
- mitotic catastrophe might be an important cell-death mechanism involved in the response of FA fibroblasts to ionizing radiation PMID: 24512567
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相关疾病:Fanconi anemia complementation group D2 (FANCD2)
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亚细胞定位:Nucleus. Note=Concentrates in nuclear foci during S phase and upon genotoxic stress. At the onset of mitosis, excluded from chromosomes and diffuses into the cytoplasm, returning to the nucleus at the end of cell division. Observed in a few spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites and could be sites of replication fork stalling. The foci are frequently interlinked through BLM-associated ultra-fine DNA bridges. Following aphidicolin treatment, targets chromatid gaps and breaks.
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组织特异性:Highly expressed in germinal center cells of the spleen, tonsil, and reactive lymph nodes, and in the proliferating basal layer of squamous epithelium of tonsil, esophagus, oropharynx, larynx and cervix. Expressed in cytotrophoblastic cells of the placent
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数据库链接:
HGNC: 3585
OMIM: 227646
KEGG: hsa:2177
STRING: 9606.ENSP00000287647
UniGene: Hs.208388
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