EFTUD2, Official Symbol EFTUD2provided by HGNC Official Full Name elongation factor Tu GTP binding domain containing 2provided by HGNC Primary source HGNC:HGNC:30858 See related Ensembl:ENSG00000108883 MIM:603892; AllianceGenome:HGNC:30858 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MFDM; MFDGA; Snu114; Snrp116; SNRNP116; U5-116KD Summary This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in testis (RPKM 15.7), appendix (RPKM 15.5) and 25 other tissues See more Orthologs mouse all