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Phenotypes

Mouse ciliopathy phenotype:

Eftud2 conditional knockout in granule precursor cells delays SHH-medulloblastoma; Eftud2-/- pre-implantation arrest (PMID 31273341)

Human ciliopathy phenotype:

mandibulofacial dysostosis with microcephaly (MFDM)

Ciliopathy associations

• Mandibulofacial Dysostosis with Microcephaly
• Medulloblastoma

Subcellular localization

nucleus

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Encodes U5-116K, a highly conserved spliceosomal GTPase required for spliceosome activation and post-splicing-complex disassembly. Heterozygous loss-of-function mutations cause mandibulofacial dysostosis with microcephaly (MFDM, OMIM 610536), a craniofacial-spectrum spliceosomopathy with microcephaly, micrognathia, malar hypoplasia, dysplastic ears, choanal atresia, and developmental delay (PMID 22305528). Upregulation of EFTUD2 in SHH-subgroup medulloblastoma drives tumour proliferation through Kif3a exon 10–11 skipping, enhancing GLI2 transcriptional activity (PMID 39994420). The EFTUD2-Kif3a-GLI2 axis links the spliceosome to ciliary Hedgehog signalling.