GeneID: 71


Common Name: EFTUD2 Type: Gene
Chromosome: 17 (NC_000017.11) Locus: NG_032674.1 (EFTUD2)
HUGO Symbol: EFTUD2 Full Name: elongation factor Tu GTP binding domain containing 2
Exons: 28 Introns: 27

The encoded protein is a GTPase component of the U5 small nuclear ribonucleoprotein (snRNP) that forms part of the spliceosome complex, which regulates pre-mRNA splicing and the production of mature mRNAs. The U5 snRNP possesses homology with the ribosomal elongation factor EF-2. The encoded protein acts as a regulator of the innate immune response. Mutations in this gene associated with mandibulofacial dysostosis with microcephaly. Polymorphisms in this gene associated with HbF levels in sickle cell patients. Multiple transcript variants encoding different isoforms have been found for this gene.

Synonyms: MFDM , MFDGA , Snu114 , Snrp116 , SNRNP116 , U5-116KD


Sequence Viewer

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Publications / Origin

  1. Fabrizio P, Laggerbauer B, Lauber J, Lane WS, Lührmann R, An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2., EMBO J. , 16(13), 4092-106, 1997 PubMed
  2. De Arras L, Laws R, Leach SM, Pontis K, Freedman JH, Schwartz DA, Alper S, Comparative genomics RNAi screen identifies Eftud2 as a novel regulator of innate immunity., Genetics , 197(2), 485-96, 2014 PubMed
  3. Liu L, Pertsemlidis A, Ding LH, Story MD, Steinberg MH, Sebastiani P, Hoppe C, Ballas SK, Pace BS, A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease., Exp. Biol. Med. (Maywood) , 2016 PubMed
Created on 2016-04-26 13:07:18, Last reviewed on 2016-04-26 13:11:22 (Show full history)

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