Property Summary

NCBI Gene PubMed Count 33
PubMed Score 12.03
PubTator Score 39.12

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
malignant mesothelioma 1.500 3.1e-07
psoriasis -2.100 2.0e-04
osteosarcoma -2.020 1.7e-06
group 3 medulloblastoma 2.300 3.4e-05
primitive neuroectodermal tumor 1.300 1.1e-03
non-small cell lung cancer 1.191 9.9e-11

Gene RIF (15)

PMID Text
26277624 A novel alternative splicing event of the FANCE gene has been characterized. FANCEDelta4 cannot support the activation of the FANC-BRCA pathway and DNA repair.
24451376 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.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20496165 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19714462 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19690177 Observational study of gene-disease association. (HuGE Navigator)
19536649 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18950845 Observational study of gene-disease association. (HuGE Navigator)
17308347 Disease-associated mutations disrupt the FANCE-FANCD2 interaction, providing structural insight into the molecular mechanisms of Fanconi Anaemia pathogenesis.
17296736 Chk1-mediated phosphorylation of FANCE is required for a function independent of FANCD2 monoubiquitination.
16513431 nuclear accumulation of FANCE does not rely solely on its nuclear localization signal motifs, but also on FANCC
16127171 FANCC, FANCE, and FANCD2 form a ternary complex in the Fanconi anemia DNA damage response pathway
12239156 This Fanconi anemia protein promotes the nuclear accumulation of FANCC.
12093742 FANCE protein is part of the FA nuclear complex, binding FANCC & FANCD2. It is required for the nuclear accumulation of FANCC and provides a bridge between the FA complex and FANCD2. FANCC mutants do not bind FANCE or prevent chromosome breakage.

AA Sequence

MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCRE      1 - 70
EPVVQGPDGRLELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDLAPDPDAWLRALGELL     71 - 140
RRDLGVGTSMEGASPLSERCQRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAAS    141 - 210
PEGKRVPKRLRCWEEEEDHEKERPEHKSLESLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLEL    211 - 280
PKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECSPSQMDLLCAQLQLPQLSDLGLLRLCTWLLA    281 - 350
LSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELL    351 - 420
CCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKGLAATTSMAYA    421 - 490
KLMLTVMTKYQANITETQRLGLAMALEPNTTFLRKSLKAALKHLGP                            491 - 536
//

Text Mined References (37)

PMID Year Title
26277624 2015 Analysis of a FANCE Splice Isoform in Regard to DNA Repair.
24451376 2014 The carboxyl terminus of FANCE recruits FANCD2 to the Fanconi Anemia (FA) E3 ligase complex to promote the FA DNA repair pathway.
23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22266823 2012 Regulation of Rev1 by the Fanconi anemia core complex.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20496165 2011 Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.
20347428 2010 A histone-fold complex and FANCM form a conserved DNA-remodeling complex to maintain genome stability.
19714462 2010 Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19690177 2009 Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk.
19536649 2009 The Fanconi anemia family of genes and its correlation with breast cancer susceptibility and breast cancer features.
19064572 2008 Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
18950845 2009 Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17924555 2008 Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
17308347 2007 Insights into Fanconi Anaemia from the structure of human FANCE.
17296736 2007 Chk1-mediated phosphorylation of FANCE is required for the Fanconi anemia/BRCA pathway.
16513431 2006 The nuclear accumulation of the Fanconi anemia protein FANCE depends on FANCC.
16127171 2005 FANCC, FANCE, and FANCD2 form a ternary complex essential to the integrity of the Fanconi anemia DNA damage response pathway.
16116422 2005 A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M.
15502827 2004 X-linked inheritance of Fanconi anemia complementation group B.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12724401 2003 A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.
12649160 2003 Fanconi anemia protein complex: mapping protein interactions in the yeast 2- and 3-hybrid systems.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12239156 2002 The Fanconi anemia protein, FANCE, promotes the nuclear accumulation of FANCC.
12093742 2002 FANCE: the link between Fanconi anaemia complex assembly and activity.
11157805 2001 Direct interactions of the five known Fanconi anaemia proteins suggest a common functional pathway.
11001585 2000 Isolation of a cDNA representing the Fanconi anemia complementation group E gene.
10205272 1999 The Fanconi anemia group E gene, FANCE, maps to chromosome 6p.
9382107 1997 Evidence for at least eight Fanconi anemia genes.
9147877 1996 Fanconi anemia complementation group E: clinical and cytogenetic data of the first patient.
7662964 1995 Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.