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EFTUD2
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]
Protein class
Disease related genes, Human disease related genes, Plasma proteins
Predicted location
Intracellular
Single cell type specificity
Low cell type specificity
Immune cell specificity
Low immune cell specificity
Cell line specificity
Low cell line specificity
Interaction
Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:26912367, PubMed:16723661). The U4/U6-U5 tri-snRNP complex is composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39 (PubMed:16723661, PubMed:26912367). Component of the pre-catalytic, catalytic and post-catalytic spliceosome complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Interacts with ERBB4 and PRPF8. Interacts with PIH1D1 (PubMed:24656813). Interacts with RPAP3 and URI1 in a ZNHIT2-dependent manner (PubMed:28561026). Interacts with NRDE2 (PubMed:30538148). Interacts with FAM50A (PubMed:32703943).
More Types Infomation
- Mouse Anti-EFTUD2 Recombinant Antibody (clone 1-D10-A1) (MRO-0519-CN)
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- Species Reactivity: Human, Mouse, Rat
- Type: Mouse IgG1
- Application: WB, IF, IHC, FC
- Rabbit Anti-EFTUD2 Polyclonal Antibody (MRO-1832-CN) (MRO-1832-CN)
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- Species Reactivity: Human, Mouse, Rat
- Type: Rabbit IgG
- Application: WB, IF, IHC
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For Research Use Only. Not For Clinical Use.