TMEM147

Chr 19AR

transmembrane protein 147

Also known as: NEDFLPH, NIFIE14

NCBI Gene: 10430 ENSG00000105677 UniProt: Q9BVK8 OMIM: 613585

TMEM147 encodes a component of the multi-pass translocon complex that mediates insertion of multi-pass membrane proteins into the endoplasmic reticulum and regulates protein localization to the nuclear inner membrane. The gene is highly constrained against loss-of-function variants (pLI = 0.0001), suggesting mutations would likely cause severe disease, though no specific disorders have been definitively associated with TMEM147 mutations to date. Given its essential role in membrane protein trafficking, pathogenic variants would be expected to follow an autosomal recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Enables ribosome binding activity. Involved in multi-pass transmembrane protein insertion into ER membrane and protein localization to nuclear inner membrane. Located in nuclear membrane. Part of multi-pass translocon complex. Is active in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…