Aliases for EFTUD2 Gene
External Ids for EFTUD2 Gene
Previous GeneCards Identifiers for EFTUD2 Gene
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]
GeneCards Summary for EFTUD2 Gene
EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2) is a Protein Coding gene. Diseases associated with EFTUD2 include Mandibulofacial Dysostosis, Guion-Almeida Type and Tracheoesophageal Fistula With Or Without Esophageal Atresia. Among its related pathways are mRNA Splicing - Major Pathway and mRNA Splicing - Minor Pathway. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is EEF2.
UniProtKB/Swiss-Prot Summary for EFTUD2 Gene
Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661).