EFTUD2
Chr 17ADelongation factor Tu GTP binding domain containing 2
Also known as: MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD
The protein is a GTPase component of the spliceosome complex required for pre-mRNA splicing, functioning in both major and minor spliceosomes including U5 snRNP and U4/U6-U5 tri-snRNP complexes. Mutations cause mandibulofacial dysostosis with microcephaly (Guion-Almeida type), inherited in an autosomal dominant pattern. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.094), reflecting its essential role in RNA processing.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
EFTUD2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools