EFTUD2

Elongation factor Tu GTP binding domain containing 2
Identifiers
Symbols	EFTUD2 ; MFDGA; MFDM; SNRNP116; Snrp116; Snu114; U5-116KD
External IDs	OMIM: 603892 MGI: 1336880 HomoloGene: 3133 GeneCards: EFTUD2 Gene
Gene ontology Molecular function • translation elongation factor activity • GTPase activity • protein binding • GTP binding • poly(A) RNA binding Cellular component • nucleoplasm • spliceosomal complex • cytoplasm • Cajal body • membrane • nuclear speck • catalytic step 2 spliceosome Biological process • mRNA splicing, via spliceosome • mRNA processing • translational elongation • RNA splicing • gene expression Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	9343	20624
Ensembl	ENSG00000108883	ENSMUSG00000020929
UniProt	Q15029	O08810
RefSeq (mRNA)	NM_001142605	NM_001109995
RefSeq (protein)	NP_001136077	NP_001103465
Location (UCSC)	Chr 17: 44.85 – 44.9 Mb	Chr 11: 102.84 – 102.88 Mb
PubMed search

116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.^[1][2]

Disease associations

Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly (MFDM; OMIM #610536),^[3] a multiple malformation syndrome comprising progressive microcephaly (present in all affected individuals), craniofacial skeletal anomalies, cleft palate, deafness, choanal atresia, small stature, and/or cardiac and thumb anomalies.

Interactions

EFTUD2 has been shown to interact with WDR57^[4][5] and PRPF8.^[5]

References

1. Fabrizio P, Laggerbauer B, Lauber J, Lane WS, Lührmann R (Jul 1997). "An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2". The EMBO Journal 16 (13): 4092–106. doi:10.1093/emboj/16.13.4092. PMC 1170032. PMID 9233818.
2. "Entrez Gene: EFTUD2 elongation factor Tu GTP binding domain containing 2".
3. Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Böhm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM (Feb 2012). "Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly". American Journal of Human Genetics 90 (2): 369–77. doi:10.1016/j.ajhg.2011.12.023. PMC 3276671. PMID 22305528.
4. Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
5. Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R (Nov 1998). "The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein". Molecular and Cellular Biology 18 (11): 6756–66. doi:10.1128/mcb.18.11.6756. PMC 109259. PMID 9774689.

Further reading

• Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1". DNA Research 1 (1): 27–35. doi:10.1093/dnares/1.1.27. PMID 7584026.
• Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement)". DNA Research 1 (1): 47–56. doi:10.1093/dnares/1.1.47. PMID 7584028.
• Maruyama K, Sugano S (Jan 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (Oct 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
• Achsel T, Ahrens K, Brahms H, Teigelkamp S, Lührmann R (Nov 1998). "The human U5-220kD protein (hPrp8) forms a stable RNA-free complex with several U5-specific proteins, including an RNA unwindase, a homologue of ribosomal elongation factor EF-2, and a novel WD-40 protein". Molecular and Cellular Biology 18 (11): 6756–66. doi:10.1128/mcb.18.11.6756. PMC 109259. PMID 9774689.
• Makarov EM, Makarova OV, Achsel T, Lührmann R (May 2000). "The human homologue of the yeast splicing factor prp6p contains multiple TPR elements and is stably associated with the U5 snRNP via protein-protein interactions". Journal of Molecular Biology 298 (4): 567–75. doi:10.1006/jmbi.2000.3685. PMID 10788320.
• Jurica MS, Licklider LJ, Gygi SR, Grigorieff N, Moore MJ (Apr 2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis". RNA 8 (4): 426–39. doi:10.1017/S1355838202021088. PMC 1370266. PMID 11991638.
• Peng R, Dye BT, Pérez I, Barnard DC, Thompson AB, Patton JG (Oct 2002). "PSF and p54nrb bind a conserved stem in U5 snRNA". RNA 8 (10): 1334–47. doi:10.1017/S1355838202022070. PMC 1370341. PMID 12403470.
• Ajuh P, Chusainow J, Ryder U, Lamond AI (Dec 2002). "A novel function for human factor C1 (HCF-1), a host protein required for herpes simplex virus infection, in pre-mRNA splicing". The EMBO Journal 21 (23): 6590–602. doi:10.1093/emboj/cdf652. PMC 136956. PMID 12456665.
• Li J, Hawkins IC, Harvey CD, Jennings JL, Link AJ, Patton JG (Nov 2003). "Regulation of alternative splicing by SRrp86 and its interacting proteins". Molecular and Cellular Biology 23 (21): 7437–47. doi:10.1128/MCB.23.21.7437-7447.2003. PMC 207616. PMID 14559993.
• Will CL, Schneider C, Hossbach M, Urlaub H, Rauhut R, Elbashir S, Tuschl T, Lührmann R (Jun 2004). "The human 18S U11/U12 snRNP contains a set of novel proteins not found in the U2-dependent spliceosome". RNA 10 (6): 929–41. doi:10.1261/rna.7320604. PMC 1370585. PMID 15146077.
• Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (Aug 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
• Andersen JS, Lam YW, Leung AK, Ong SE, Lyon CE, Lamond AI, Mann M (Jan 2005). "Nucleolar proteome dynamics". Nature 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413.
• Lennerz V, Fatho M, Gentilini C, Frye RA, Lifke A, Ferel D, Wölfel C, Huber C, Wölfel T (Nov 2005). "The response of autologous T cells to a human melanoma is dominated by mutated neoantigens". Proceedings of the National Academy of Sciences of the United States of America 102 (44): 16013–8. doi:10.1073/pnas.0500090102. PMC 1266037. PMID 16247014.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M (Nov 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.
• Koch HB, Zhang R, Verdoodt B, Bailey A, Zhang CD, Yates JR, Menssen A, Hermeking H (Jan 2007). "Large-scale identification of c-MYC-associated proteins using a combined TAP/MudPIT approach". Cell Cycle 6 (2): 205–17. doi:10.4161/cc.6.2.3742. PMID 17314511.
• Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.