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 0.000
psoriasis -2.100 0.000
osteosarcoma -2.020 0.000
group 3 medulloblastoma 2.300 0.000
primitive neuroectodermal tumor 1.300 0.001
non-small cell lung cancer 1.191 0.000

Synonym

Accession Q9HB96 A8K907 Q4ZGH2 Protein FACE
Symbols FAE
FACE

Gene

PDB

2ILR  

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.
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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.
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