产品名称
FANCD2 (Phospho Thr691) Rabbit Polyclonal Antibody
别名
Fanconi anemia group D2 protein (Protein FACD2)
蛋白名称
Fanconi anemia group D2 protein (Protein FACD2)
存储缓冲液
Liquid in PBS containing 50% glycerol, and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=2177
Human Swissprot No.
Q9BXW9
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q9BXW9/entry
Mouse Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=211651
Mouse Swissprot No.
Q80V62
Mouse Swissprot Link
https://www.uniprot.org/uniprotkb/Q80V62/entry
Rat Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=312641
Rat Swissprot Link
https://www.uniprot.org/uniprotkb/Q6IV68/entry
特异性
This antibody detects endogenous levels of FANCD2 (Phospho Thr691) Rabbit pAb at Human, Mouse,Rat
稀释度
WB 1:500-2000 IHC 1:50-200
运输及保存条件
-15°C to -25°C/1 year(Do not lower than -25°C)
组织表达
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 placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes.
细胞定位
Nucleus . 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.
功能
developmental stage:Highly expressed in fetal oocytes, and in hematopoietic cells of the fetal liver and bone marrow (at protein level).,disease:Defects in FANCD2 are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage), and defective DNA repair.,domain:The C-terminal 24 residues of isoform 2 are required for its function.,function: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. Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching.,PTM:Monoubiquitinated on Lys-561 during S phase and upon genotoxic stress (isoform 1 and isoform 2). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex, RPA1 and ATR, and is mediated by FANCL/PHF9. Ubiquitination is required for binding to chromatin, interaction with BRCA1 and BRCA2, DNA repair, and normal cell cycle progression, but not for phosphorylation on Ser-222 or interaction with MEN1.,PTM:Phosphorylated in response to various genotoxic stresses by ATM and/or ATR. Upon ionizing radiation, phosphorylated by ATM on Ser-222 and Ser-1404. Phosphorylation on Ser-222 is required for S-phase checkpoint activation, but not for ubiquitination, foci formation, or DNA repair. In contrast, phosphorylation by ATR on other sites may be required for ubiquitination and foci formation.,subcellular location:Concentrates in nuclear foci during S phase and upon genotoxic stress.,subunit:Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1, BRCA2 and BLM.,tissue specificity: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 placenta and exocrine cells of the pancreas (at protein level). Highly expressed in testis, where expression is restricted to maturing spermatocytes.,