116 kDa U5 small nuclear ribonucleoprotein component is a protein that in humans is encoded by the EFTUD2 gene.[5][6]

EFTUD2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesEFTUD2, MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD, elongation factor Tu GTP binding domain containing 2
External IDsOMIM: 603892; MGI: 1336880; HomoloGene: 3133; GeneCards: EFTUD2; OMA:EFTUD2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001142605
NM_001258353
NM_001258354
NM_004247

NM_001109995
NM_011431

RefSeq (protein)

NP_001136077
NP_001245282
NP_001245283
NP_004238

NP_001103465
NP_035561

Location (UCSC)Chr 17: 44.85 – 44.9 MbChr 11: 102.73 – 102.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Disease associations

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Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly (MFDM; OMIM #610536),[7] 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

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EFTUD2 has been shown to interact with WDR57[8][9] and PRPF8.[9]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000108883Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020929Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ 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.
  6. ^ "Entrez Gene: EFTUD2 elongation factor Tu GTP binding domain containing 2".
  7. ^ 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.
  8. ^ 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.
  9. ^ a b 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

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