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Gene Review

FANCE  -  Fanconi anemia, complementation group E

Homo sapiens

Synonyms: FACE, FAE, Fanconi anemia group E protein, Protein FACE
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Disease relevance of FANCE

  • The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC [1].
  • However, the mutant FANCE protein fails to complement the mitomycin C hypersensitivity of the transfected cells [2].
  • SAFE-Surgery, Antibiotics, Face-washing, and Environmental improvement-has incorporated sound research on elements likely to reduce trachoma, and trachomatis blindness, in endemic communities [3].
  • Most strikingly, cataplexy was best differentiated from other types of muscle weakness when triggered by only three typical situations: "when hearing and telling a joke," "while laughing," or "when angry." Face or neck, rather than limbs, were also more specifically involved in clear-cut cataplexy [4].
  • CONCLUSIONS: Face-specific COD crystal nucleation onto the apical surface of living renal epithelial cells followed by internalization is a heretofore unrecognized physiological event, suggesting a new mechanism to explain crystal retention within the nephron, and perhaps kidney stone formation when this process is dysregulated or overwhelmed [5].

Psychiatry related information on FANCE

  • OBJECTIVE: Face recognition memory deficits in schizophrenia are attributed to frontotemporal dysfunction [6].
  • METHOD: Multistage stratified clustered sampling of households in the Yoruba-speaking parts of Nigeria. Face-to-face interviews used the World Mental Health version of the Composite International Diagnostic Interview (WMH-CIDI) [7].
  • To measure affect perception, we used two reliable measures of emotion recognition, the Bell-Lysaker Emotion Recognition Test and the Face Emotion Identification Test. Multiple regression analysis showed that all four attentional factors and a diagnosis of paranoid schizophrenia were significantly predictive of affect perception scores [8].
  • There were no statistical significant differences between these scores before lithium therapy or after 4 and 12 months, except for immediate and delayed memory on the Person-Data Test and the 30 Face Test which showed an increased score of memory functions [9].
  • The difficulty in perceiving upside-down Mooneys as faces was reflected by both lower rates of "Face" responses and delayed "Face" reaction times for upside-down relative to upright stimuli [10].

High impact information on FANCE

  • Disease-associated FANCC mutants do not bind to FANCE, cannot accumulate in the nucleus and are unable to prevent chromosome breakage [11].
  • DESIGN: Face-to-face survey conducted in the 2001-2002 National Epidemiologic Survey on Alcohol and Related Conditions [12].
  • METHODS: Face-to-face structured follow-up interviews were carried out with the subjects and separately with an additional informant, and blood samples, as well as urine specimens, were obtained for determination of state markers of heavy drinking and drug toxicology screens [13].
  • Here we report the identification, by complementation cloning, of the gene mutated in FA complementation group E (FANCE) [14].
  • FANCE has 10 exons and encodes a novel 536-amino acid protein with two potential nuclear localization signals [14].

Chemical compound and disease context of FANCE

  • Cut-scores suggest that the SASSI-A may best be used for detecting problematic alcohol consumption using the Face Valid Alcohol Scale > or = 3 [15].
  • METHODS: The authors used standard cognitive tests and a novel battery designed to reflect dysfunction in both ventral (Object, Face & Color Agnosia Screen [OFCAS]) and dorsal (complex pictures and compound stimuli) visual streams [16].

Biological context of FANCE


Anatomical context of FANCE

  • The methods tested are those described by: 1) Gerasimov ([1971] The Face Finder; London: Hutchinson & Co.), using the distal third of the nasal bones and the nasal spine; 2) Krogman ([1962] The Human Skeleton in Forensic Medicine; Springfield: Charles C [21].
  • Famous face recognition, identification and naming was assessed using the Famous Face Test. The assessment of neurofibrillary tangle (NFT) and senile plaque (SP) densities was performed in ten cortical areas in both hemispheres, and statistical analysis was made using forward stepwise logistic regression models [22].
  • Using the indicator cell line BHK-HFVLTR-EGFP, we examined the effects of repeated freeze-and-thaw cycles and temperature on HFV stability by the FAE assay [23].
  • Effects of FAE on intracellular cytokine profiles, T-cell apoptosis, and soluble adhesion molecules were also assessed [24].
  • The Lynn Maxilla Rotator Combination Appliance and Lynn Archial Face Bow [25].

Associations of FANCE with chemical compounds

  • Here, we show that, in response to DNA damage, Chk1 directly phosphorylates the FANCE subunit of the FA core complex on two conserved sites (threonine 346 and serine 374) [2].
  • To release FA from food matrices, it is necessary to cleave ester cross-linking by feruloyl esterase (FAE) (hydroxycinnamoyl esterase; EC [26].
  • The metal ions Cu(2+) and Fe(3+) (at a concentration of 5 mmol liter(-1)) inhibited FAE activity by 97.25 and 94.80%, respectively [26].
  • CONCLUSION: Facial-MEP with its exhalation port within the mask and the smallest mask volume demonstrated less rebreathed CO2 and a lower PDR than either the Facial-WS or Total Face masks [27].
  • The tribological properties of the molecularly thin films of asymmetric ether (1,3-dimethylbutyl octyl ether, AE) and fluorinated asymmetric ether (1H,1H,2H,2H-perfluorooctyl-1,3-dimethylbutyl ether, FAE) were investigated [28].

Physical interactions of FANCE


Co-localisations of FANCE

  • Phosphorylated FANCE assembles in nuclear foci and colocalizes with FANCD2 [2].

Regulatory relationships of FANCE

  • At present, it is poorly understood how the nuclear accumulation of FANCE is regulated and therefore we investigated the nuclear localization of this FA protein [19].

Other interactions of FANCE

  • Only 2 conservative missense variants, 1 in FANCA and 1 in FANCE, were each found in a single family and were not present in 300 controls [30].
  • Direct interaction between FANCE and FANCD2 was also demonstrated in the yeast 2-hybrid system [29].

Analytical, diagnostic and therapeutic context of FANCE

  • IEF detected 62 patients with FAE, whereas HPLC detected 63 [31].
  • Plastic safety lenses (USA Standard Practice for Occupational and Educational Eye ,nd Face Protection, approved Sept 18, 1968 by the USA Standards Institute [ANSI Z87.1-1968]) mounted in a sturdy frame (industrial or athletic) or an eye protector are necessary for squash and racquet ball [32].
  • Validity and reliability studies were conducted on the Face Scale, a very brief, pictorial scale of mood which uses a sequence of 20 faces and does not require reading literacy [33].
  • DESIGN: Face-to-face interviews with 18-year-olds participating in the third stage of a longitudinal study of the social patterning of health and illness [34].
  • The ATICE consists of five items: Awakeness and Comprehension combined in a Consciousness domain, and Calmness, Ventilator Synchrony, and Face Relaxation combined in a Tolerance domain [35].


  1. The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC. Taniguchi, T., D'Andrea, A.D. Blood (2002) [Pubmed]
  2. Chk1-Mediated Phosphorylation of FANCE Is Required for the Fanconi Anemia/BRCA Pathway. Wang, X., Kennedy, R.D., Ray, K., Stuckert, P., Ellenberger, T., D'Andrea, A.D. Mol. Cell. Biol. (2007) [Pubmed]
  3. Trachoma: new assault on an ancient disease. West, S.K. Progress in retinal and eye research. (2004) [Pubmed]
  4. Validation of a cataplexy questionnaire in 983 sleep-disorders patients. Anic-Labat, S., Guilleminault, C., Kraemer, H.C., Meehan, J., Arrigoni, J., Mignot, E. Sleep. (1999) [Pubmed]
  5. Direct nucleation of calcium oxalate dihydrate crystals onto the surface of living renal epithelial cells in culture. Lieske, J.C., Toback, F.G., Deganello, S. Kidney Int. (1998) [Pubmed]
  6. Face recognition memory deficits and visual object memory performance in patients with schizophrenia and their relatives. Calkins, M.E., Gur, R.C., Ragland, J.D., Gur, R.E. The American journal of psychiatry. (2005) [Pubmed]
  7. Lifetime and 12-month prevalence of mental disorders in the Nigerian Survey of Mental Health and Well-Being. Gureje, O., Lasebikan, V.O., Kola, L., Makanjuola, V.A. The British journal of psychiatry : the journal of mental science. (2006) [Pubmed]
  8. The role of attention in affect perception: an examination of Mirsky's four factor model of attention in chronic schizophrenia. Combs, D.R., Gouvier, W.D. Schizophrenia bulletin. (2004) [Pubmed]
  9. Memory functions and prophylactic treatment with lithium. Smigan, L., Perris, C. Psychological medicine. (1983) [Pubmed]
  10. Electrophysiological correlates of facial decision: insights from upright and upside-down Mooney-face perception. George, N., Jemel, B., Fiori, N., Chaby, L., Renault, B. Brain research. Cognitive brain research. (2005) [Pubmed]
  11. FANCE: the link between Fanconi anaemia complex assembly and activity. Pace, P., Johnson, M., Tan, W.M., Mosedale, G., Sng, C., Hoatlin, M., de Winter, J., Joenje, H., Gergely, F., Patel, K.J. EMBO J. (2002) [Pubmed]
  12. Immigration and lifetime prevalence of DSM-IV psychiatric disorders among Mexican Americans and non-Hispanic whites in the United States: results from the National Epidemiologic Survey on Alcohol and Related Conditions. Grant, B.F., Stinson, F.S., Hasin, D.S., Dawson, D.A., Chou, S.P., Anderson, K. Arch. Gen. Psychiatry (2004) [Pubmed]
  13. An 8-year follow-up of 450 sons of alcoholic and control subjects. Schuckit, M.A., Smith, T.L. Arch. Gen. Psychiatry (1996) [Pubmed]
  14. Isolation of a cDNA representing the Fanconi anemia complementation group E gene. de Winter, J.P., Léveillé, F., van Berkel, C.G., Rooimans, M.A., van Der Weel, L., Steltenpool, J., Demuth, I., Morgan, N.V., Alon, N., Bosnoyan-Collins, L., Lightfoot, J., Leegwater, P.A., Waisfisz, Q., Komatsu, K., Arwert, F., Pronk, J.C., Mathew, C.G., Digweed, M., Buchwald, M., Joenje, H. Am. J. Hum. Genet. (2000) [Pubmed]
  15. Use of the adolescent SASSI in a juvenile correctional setting. Stein, L.A., Lebeau-Craven, R., Martin, R., Colby, S.M., Barnett, N.P., Golembeske, C., Penn, J.V. Assessment. (2005) [Pubmed]
  16. The cognitive profile of posterior cortical atrophy. McMonagle, P., Deering, F., Berliner, Y., Kertesz, A. Neurology (2006) [Pubmed]
  17. The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. Waisfisz, Q., Saar, K., Morgan, N.V., Altay, C., Leegwater, P.A., de Winter, J.P., Komatsu, K., Evans, G.R., Wegner, R.D., Reis, A., Joenje, H., Arwert, F., Mathew, C.G., Pronk, J.C., Digweed, M. Am. J. Hum. Genet. (1999) [Pubmed]
  18. FANCC, FANCE, and FANCD2 form a ternary complex essential to the integrity of the Fanconi anemia DNA damage response pathway. Gordon, S.M., Alon, N., Buchwald, M. J. Biol. Chem. (2005) [Pubmed]
  19. The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC. Léveillé, F., Ferrer, M., Medhurst, A.L., Laghmani, e.l. .H., Rooimans, M.A., Bier, P., Steltenpool, J., Titus, T.A., Postlethwait, J.H., Hoatlin, M.E., Joenje, H., de Winter, J.P. DNA Repair (Amst.) (2006) [Pubmed]
  20. Activation of Preexisting and Acquired Face Representations: The N250 Event-related Potential as an Index of Face Familiarity. Tanaka, J.W., Curran, T., Porterfield, A.L., Collins, D. Journal of cognitive neuroscience. (2006) [Pubmed]
  21. Predicting nose projection and pronasale position in facial approximation: a test of published methods and proposal of new guidelines. Stephan, C.N., Henneberg, M., Sampson, W. Am. J. Phys. Anthropol. (2003) [Pubmed]
  22. Impaired processing of famous faces in Alzheimer's disease is related to neurofibrillary tangle densities in the prefrontal and anterior cingulate cortex. Giannakopoulos, P., Gold, G., Duc, M., Michel, J.P., Hof, P.R., Bouras, C. Dementia and geriatric cognitive disorders. (2000) [Pubmed]
  23. A new indicator cell line to monitor human foamy virus infection and stability in vitro. Li, Z., Yang, P., Liu, H., Li, W.X. Intervirology (2002) [Pubmed]
  24. Oral fumaric acid esters for the treatment of active multiple sclerosis: an open-label, baseline-controlled pilot study. Schimrigk, S., Brune, N., Hellwig, K., Lukas, C., Bellenberg, B., Rieks, M., Hoffmann, V., Pöhlau, D., Przuntek, H. Eur. J. Neurol. (2006) [Pubmed]
  25. The Lynn Maxilla Rotator Combination Appliance and Lynn Archial Face Bow. Lynn, J.M. The Functional orthodontist. (1989) [Pubmed]
  26. Purification and characterization of a feruloyl esterase from the intestinal bacterium Lactobacillus acidophilus. Wang, X., Geng, X., Egashira, Y., Sanada, H. Appl. Environ. Microbiol. (2004) [Pubmed]
  27. Position of exhalation port and mask design affect CO2 rebreathing during noninvasive positive pressure ventilation. Schettino, G.P., Chatmongkolchart, S., Hess, D.R., Kacmarek, R.M. Crit. Care Med. (2003) [Pubmed]
  28. Nanotribology of ethers: effects of molecular asymmetry and fluoroalkyl chains. Yamada, S. Langmuir : the ACS journal of surfaces and colloids. (2005) [Pubmed]
  29. Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems. Gordon, S.M., Buchwald, M. Blood (2003) [Pubmed]
  30. Evaluation of Fanconi Anemia genes in familial breast cancer predisposition. Seal, S., Barfoot, R., Jayatilake, H., Smith, P., Renwick, A., Bascombe, L., McGuffog, L., Evans, D.G., Eccles, D., Easton, D.F., Stratton, M.R., Rahman, N. Cancer Res. (2003) [Pubmed]
  31. Evaluation of cation-exchange HPLC compared with isoelectric focusing for neonatal hemoglobinopathy screening. Campbell, M., Henthorn, J.S., Davies, S.C. Clin. Chem. (1999) [Pubmed]
  32. Racket sports. An ocular hazard. Vinger, P.F., Tolpin, D.W. JAMA (1978) [Pubmed]
  33. The Face Scale: a brief, nonverbal method for assessing patient mood. Lorish, C.D., Maisiak, R. Arthritis Rheum. (1986) [Pubmed]
  34. 'What does the phrase "safer sex" mean to you?' Understanding among Glaswegian 18-year-olds in 1990. Macintyre, S., West, P. AIDS (1993) [Pubmed]
  35. Adaptation to the Intensive Care Environment (ATICE): development and validation of a new sedation assessment instrument. De Jonghe, B., Cook, D., Griffith, L., Appere-de-Vecchi, C., Guyatt, G., Théron, V., Vagnerre, A., Outin, H. Crit. Care Med. (2003) [Pubmed]
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