Property Summary

NCBI Gene PubMed Count 43
Grant Count 14
R01 Count 11
Funding $1,334,471.13
PubMed Score 32.81
PubTator Score 22.89

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
medulloblastoma, large-cell 1.100 0.002
diabetes mellitus -1.300 0.001
ovarian cancer 1.500 0.000

Gene RIF (13)

PMID Text
26507355 An update on mandibulofacial dysostosis with microcephaly and EFTUD2 mutations has been presented. (Review)
25878102 These data demonstrate that EFTUD2 restricts Hepatitis C Virus infection mainly through an RIG-I/MDA5-mediated, JAK-STAT-independent pathway, thereby revealing the participation of EFTUD2 as a novel innate immune regulator.
25790162 We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS.
25735261 Novel heterozygous mutations in EFTUD2, detected by exome sequencing, in mandibulofacial dysostosis with Microcephaly syndrome.
25450007 Results show that SNW1 directly associates with EFTUD2 and SNRNP200 and that disruption of SNW1 association with these proteins promotes the apoptosis of breast cancer cells.
25387991 Three different mutations in EFTUD2 gene were found in patients with mandibulofacial dysostosis type Guion-Almeida syndrome
24470203 Study describes loss-of-function mutations in EFTUD2 gene in patients with different clinical manifestations of Mandibulofacial dysostosis, Guion-Almeida type syndrome.
24266672 A de nove deletion mutation at 17q21.31, encompassing the EFTUD2 gene, is associated with congenital mandibulofacial dysostosis with microcephaly.
23879989 the phenotype in patients with EFTUD2 mutations is much broader than previously anticipated; in addition to AFD type Guion-Almeida and syndromic esophageal atresia, oto-facial syndrome also belongs to the EFTUD2 mutation spectrum
23239648 Novel mutations in EFTUD2 were discovered in 3 patients. These mutations expand the clinical features in patients with EFTUD2 mutations and demonstrate an overlap with oculo-auriculo-vertebral spectrum.
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AA Sequence

MDTDLYDEFGNYIGPELDSDEDDDELGRETKDLDEMDDDDDDDDVGDHDDDHPGMEVVLHEDKKYYPTAE      1 - 70
EVYGPEVETIVQEEDTQPLTEPIIKPVKTKKFTLMEQTLPVTVYEMDFLADLMDNSELIRNVTLCGHLHH     71 - 140
GKTCFVDCLIEQTHPEIRKRYDQDLCYTDILFTEQERGVGIKSTPVTVVLPDTKGKSYLFNIMDTPGHVN    141 - 210
FSDEVTAGLRISDGVVLFIDAAEGVMLNTERLIKHAVQERLAVTVCINKIDRLILELKLPPTDAYYKLRH    211 - 280
IVDEVNGLISMYSTDENLILSPLLGNVCFSSSQYSICFTLGSFAKIYADTFGDINYQEFAKRLWGDIYFN    281 - 350
PKTRKFTKKAPTSSSQRSFVEFILEPLYKILAQVVGDVDTSLPRTLDELGIHLTKEELKLNIRPLLRLVC    351 - 420
KKFFGEFTGFVDMCVQHIPSPKVGAKPKIEHTYTGGVDSDLGEAMSDCDPDGPLMCHTTKMYSTDDGVQF    421 - 490
HAFGRVLSGTIHAGQPVKVLGENYTLEDEEDSQICTVGRLWISVARYHIEVNRVPAGNWVLIEGVDQPIV    491 - 560
KTATITEPRGNEEAQIFRPLKFNTTSVIKIAVEPVNPSELPKMLDGLRKVNKSYPSLTTKVEESGEHVIL    561 - 630
GTGELYLDCVMHDLRKMYSEIDIKVADPVVTFCETVVETSSLKCFAETPNKKNKITMIAEPLEKGLAEDI    631 - 700
ENEVVQITWNRKKLGEFFQTKYDWDLLAARSIWAFGPDATGPNILVDDTLPSEVDKALLGSVKDSIVQGF    701 - 770
QWGTREGPLCDELIRNVKFKILDAVVAQEPLHRGGGQIIPTARRVVYSAFLMATPRLMEPYYFVEVQAPA    771 - 840
DCVSAVYTVLARRRGHVTQDAPIPGSPLYTIKAFIPAIDSFGFETDLRTHTQGQAFSLSVFHHWQIVPGD    841 - 910
PLDKSIVIRPLEPQPAPHLAREFMIKTRRRKGLSEDVSISKFFDDPMLLELAKQDVVLNYPM            911 - 972
//

Text Mined References (55)

PMID Year Title
26507355 2016 Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
25878102 2015 EFTUD2 Is a Novel Innate Immune Regulator Restricting Hepatitis C Virus Infection through the RIG-I/MDA5 Pathway.
25790162 2016 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
25735261 2015 Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.
25450007 2015 Inhibition of SNW1 association with spliceosomal proteins promotes apoptosis in breast cancer cells.
25387991 2015 Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.
25114211 2014 Mapping of SUMO sites and analysis of SUMOylation changes induced by external stimuli.
24656813 2014 Phosphorylation-dependent PIH1D1 interactions define substrate specificity of the R2TP cochaperone complex.
24470203 2014 Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
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