catalog number :
MBS1291368
products type :
Recombinant Protein
products full name :
Recombinant Human Fanconi anemia group D2 protein (FANCD2), partial
products short name :
Fanconi anemia group D2 protein (FANCD2), partial
products name syn :
Fanconi anemia group D2 protein; Protein FACD2
other names :
Fanconi anemia group D2 protein isoform b; Fanconi anemia group D2 protein; Fanconi anemia group D2 protein; Fanconi anemia, complementation group D2
products gene name :
FANCD2
products gene name syn :
FANCD2; FACD
other gene names :
FANCD2; FANCD2; FA4; FAD; FACD; FAD2; FA-D2; FANCD; FACD; Protein FACD2
uniprot entry name :
FACD2_HUMAN
host :
E Coli or Yeast or Baculovirus or Mammalian Cell
form :
Liquid containing glycerol; lyophilization may be available upon request.
storage stability :
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
other info1 :
Species: Homo sapiens (Human)
products description :
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.
ncbi acc num :
NP_001018125.1
ncbi gb acc num :
NM_001018115.1
ncbi pathways :
BARD1 Signaling Events Pathway (137959); DNA Repair Pathway (105837); DNA Damage Response Pathway (198788); Fanconi Anemia Pathway (105895); Fanconi Anemia Pathway (377262); Fanconi Anemia Pathway (377128); Regulation Of The Fanconi Anemia Pathway (105896); TNF-alpha/NF-kB Signaling Pathway (198884)
ncbi 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. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
uniprot summary :
FANCD2: 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. Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1 and BLM. Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3. The ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA damage. Interacts with DCLRE1B/Apollo. 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. Highly expressed in testis, where expression is restricted to maturing spermatocytes. 4 isoforms of the human protein are produced by alternative splicing. Protein type: DNA repair, damage. Chromosomal Location of Human Ortholog: 3p26. Cellular Component: nucleoplasm; Golgi apparatus; intracellular membrane-bound organelle; condensed chromosome. Molecular Function: protein binding. Biological Process: gamete generation; synapsis; response to gamma radiation; DNA repair. Disease: Tracheoesophageal Fistula With Or Without Esophageal Atresia; Fanconi Anemia, Complementation Group D2
size2 :
0.05 mg (Baculovirus)
size4 :
0.05 mg (Mammalian-Cell)