TENT4B

Chr 16

terminal nucleotidyltransferase 4B

Also known as: PAPD5, TRF4-2, TUT3

NCBI Gene: 64282 ENSG00000121274 UniProt: Q8NDF8

This protein functions as a terminal nucleotidyltransferase that adds nucleotides to RNA 3' ends, stabilizing mRNAs and regulating RNA quality control through the TRAMP complex. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. The gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.208), indicating that heterozygous mutations are likely pathogenic.

ResearchSummary from RefSeq, UniProt

Enables guanylyltransferase activity; poly(A) RNA polymerase activity; and telomerase RNA binding activity. Involved in several processes, including RNA metabolic process; negative regulation of telomere maintenance via telomerase; and regulation of mRNA stability. Located in cytosol and nucleolus. Part of TRAMP complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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