EFTUD2 elongation factor Tu GTP binding domain containing 2

Gene info


U5-116KD, Snrp116, Snu114, SNRNP116

Previous symbol


External ID

HGNC: 30858
Entrez Gene: 9343
Ensembl: ENSG00000108883
UCSC: uc002ihn.3
OMIM: 603892
UniProtKB: Q15029

Disease info

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Patent ductus arteriosus
  • Total anomalous pulmonary venous return

Extra Cardiac Phenotype


Incomplete penetrance


Variable expressivity


Animal model

Mouse study

MGI: No cardiovascular defect recorded in knockout mice


Variant info


Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for EFTUD2: BED file

Genome browser powered by igv.js

Selected References

  1. Lines, M. A., Huang, L., Schwartzentruber, J., Douglas, S. L., Lynch, D. C., Beaulieu, C., Guion-Almeida, M. L., Zechi-Ceide, R. M., Gener, B., Gillessen-Kaesbach, G., Nava, C., Baujat, G., Horn, D., Kini, U., Caliebe, A., Alanay, Y., Utine, G. E., Lev, D., Kohlhase, J., … Boycott, K. M. (2012). Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly. The American Journal of Human Genetics, 90(2), 369–377. https://doi.org/10.1016/j.ajhg.2011.12.023 DOI:10.1016/j.ajhg.2011.12.023 PMID:22305528
  2. Lehalle, D., Wieczorek, D., Zechi-Ceide, R. M., Passos-Bueno, M. R., Lyonnet, S., Amiel, J., & Gordon, C. T. (2015). A review of craniofacial disorders caused by spliceosomal defects. Clinical Genetics, 88(5), 405–415. Portico. https://doi.org/10.1111/cge.12596 DOI:10.1111/cge.12596 PMID:25865758