FANCE

Not to be confused with France.

Fanconi anemia, complementation group E
PDB rendering based on 2ilr.
Available structures PDB 2ilr
Identifiers
Symbols	FANCE; FACE; FAE
External IDs	OMIM: 600901 MGI: 1920025 HomoloGene: 11066 GeneCards: FANCE Gene
Gene Ontology Molecular function • molecular_function • protein binding Cellular component • nucleus • nucleoplasm Biological process • DNA repair Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2178	72775
Ensembl	ENSG00000112039	n/a
UniProt	Q9HB96	n/a
RefSeq (mRNA)	NM_021922	XM_915490
RefSeq (protein)	NP_068741	XP_920583
Location (UCSC)	Chr 6: 35.42 – 35.43 Mb	n/a
PubMed search	[1]	[2]

Fanconi anemia group E protein is a protein that in humans is encoded by the FANCE gene.

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, and FANCL. 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 E.

Interactions

FANCE has been shown to interact with Fanconi anemia, complementation group C, FANCG, FANCD2, FANCF and FANCA.

Further reading

• Wegner RD, Henrichs I, Joenje H, Schroeder-Kurth T (1997). "Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient". Clin. Genet. 50 (6): 479–82. doi:10.1111/j.1399-0004.1996.tb02716.x. PMID 9147877. 
• Joenje H, Oostra AB, Wijker M, et al. (1997). "Evidence for at least eight Fanconi anemia genes". Am. J. Hum. Genet. 61 (4): 940–4. doi:10.1086/514881. PMC 1715980. PMID 9382107. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1715980. 
• Waisfisz Q, Saar K, Morgan NV, et al. (1999). "The Fanconi anemia group E gene, FANCE, maps to chromosome 6p". Am. J. Hum. Genet. 64 (5): 1400–5. doi:10.1086/302385. PMC 1377877. PMID 10205272. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377877. 
• Medhurst AL, Huber PA, Waisfisz Q, et al. (2001). "Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway". Hum. Mol. Genet. 10 (4): 423–9. doi:10.1093/hmg/10.4.423. PMID 11157805. 
• Pace P, Johnson M, Tan WM, et al. (2002). "FANCE: the link between Fanconi anaemia complex assembly and activity". EMBO J. 21 (13): 3414–23. doi:10.1093/emboj/cdf355. PMC 125396. PMID 12093742. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=125396. 
• Taniguchi T, D'Andrea AD (2002). "The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC". Blood 100 (7): 2457–62. doi:10.1182/blood-2002-03-0860. PMID 12239156. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Gordon SM, Buchwald M (2003). "Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems". Blood 102 (1): 136–41. doi:10.1182/blood-2002-11-3517. PMID 12649160. 
• Meetei AR, Sechi S, Wallisch M, et al. (2003). "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome". Mol. Cell. Biol. 23 (10): 3417–26. doi:10.1128/MCB.23.10.3417-3426.2003. PMC 164758. PMID 12724401. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=164758. 
• Meetei AR, de Winter JP, Medhurst AL, et al. (2003). "A novel ubiquitin ligase is deficient in Fanconi anemia". Nat. Genet. 35 (2): 165–70. doi:10.1038/ng1241. PMID 12973351. 
• Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature 425 (6960): 805–11. doi:10.1038/nature02055. PMID 14574404. 
• Hussain S, Wilson JB, Medhurst AL, et al. (2004). "Direct interaction of FANCD2 with BRCA2 in DNA damage response pathways". Hum. Mol. Genet. 13 (12): 1241–8. doi:10.1093/hmg/ddh135. PMID 15115758. 
• Wang X, Andreassen PR, D'Andrea AD (2004). "Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in chromatin". Mol. Cell. Biol. 24 (13): 5850–62. doi:10.1128/MCB.24.13.5850-5862.2004. PMC 480901. PMID 15199141. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=480901. 
• Léveillé F, Blom E, Medhurst AL, et al. (2004). "The Fanconi anemia gene product FANCF is a flexible adaptor protein". J. Biol. Chem. 279 (38): 39421–30. doi:10.1074/jbc.M407034200. PMID 15262960. 
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928. 
• Meetei AR, Levitus M, Xue Y, et al. (2004). "X-linked inheritance of Fanconi anemia complementation group B". Nat. Genet. 36 (11): 1219–24. doi:10.1038/ng1458. PMID 15502827. 
• Meetei AR, Medhurst AL, Ling C, et al. (2005). "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M". Nat. Genet. 37 (9): 958–63. doi:10.1038/ng1626. PMC 2704909. PMID 16116422. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2704909. 
• Gordon SM, Alon N, Buchwald M (2006). "FANCC, FANCE, and FANCD2 form a ternary complex essential to the integrity of the Fanconi anemia DNA damage response pathway". J. Biol. Chem. 280 (43): 36118–25. doi:10.1074/jbc.M507758200. PMID 16127171.