EFTUD2

Chr 17AD

elongation factor Tu GTP binding domain containing 2

Also known as: MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD

NCBI Gene: 9343 ENSG00000108883 UniProt: Q15029 OMIM: 603892

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mandibulofacial dysostosis, Guion-Almeida typeMIM #610536

Clinical highlights

Gene-disease validity (ClinGen)

mandibulofacial dysostosis-microcephaly syndrome · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.09

LOEUF· LoF intol.

LOF

Mechanism· G2P

📖

GeneReview available — EFTUD2