SCAF8

Chr 6

SR-related CTD associated factor 8

Also known as: RBM16

NCBI Gene: 22828 ENSG00000213079 UniProt: Q9UPN6

The SCAF8 protein prevents premature termination of RNA polymerase II transcription by binding to nascent RNA and suppressing early polyadenylation sites, thereby ensuring production of full-length functional proteins. Mutations cause autosomal dominant neurodevelopmental disorder with microcephaly, epilepsy, and brain malformations. This gene is highly constrained against loss-of-function variants, reflecting its critical role in normal development.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity and RNA polymerase II C-terminal domain phosphoserine binding activity. Involved in negative regulation of termination of RNA polymerase II transcription, poly(A)-coupled and positive regulation of DNA-templated transcription, elongation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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

0.10

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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