EFTUD2 (elongation factor Tu GTP binding domain containing 2)

2014-08-01  

Identity

HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
MFDGA,MFDM,SNRNP116,Snrp116,Snu114,U5-116KD
FUSION GENES

Other Information

Locus ID:

NCBI: 9343
MIM: 603892
HGNC: 30858
Ensembl: ENSG00000108883

Variants:

dbSNP: 9343
ClinVar: 9343
TCGA: ENSG00000108883
COSMIC: EFTUD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108883ENST00000402521Q15029
ENSG00000108883ENST00000426333Q15029
ENSG00000108883ENST00000588374K7EQ26
ENSG00000108883ENST00000589769K7EJ74
ENSG00000108883ENST00000590124K7EP67
ENSG00000108883ENST00000591382Q15029
ENSG00000108883ENST00000591856K7ERJ5
ENSG00000108883ENST00000592576Q15029
ENSG00000108883ENST00000592701K7EIV5
ENSG00000108883ENST00000593072K7EIT3

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, 35S U5-snRNPKEGGhsa_M00355
Spliceosome, U4/U6.U5 tri-snRNPKEGGhsa_M00354
Spliceosome, U4/U6.U5 tri-snRNPKEGGM00354
Spliceosome, 35S U5-snRNPKEGGM00355
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
223055282012Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.49
231881082012EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.25
232396482013"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.20
257901622016Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.17
258781022015EFTUD2 Is a Novel Innate Immune Regulator Restricting Hepatitis C Virus Infection through the RIG-I/MDA5 Pathway.13
244702032014Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.11
238799892013Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.10
254500072015Inhibition of SNW1 association with spliceosomal proteins promotes apoptosis in breast cancer cells.9
242666722015Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.4

Citation

Dessen P

EFTUD2 (elongation factor Tu GTP binding domain containing 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54275/eftud2