SCAF11

Chr 12

SR-related CTD associated factor 11

Also known as: CASP11, SFRS2IP, SIP1, SRRP129, SRSF2IP

NCBI Gene: 9169 ENSG00000139218 UniProt: Q99590 OMIM: 603668

SCAF11 encodes a protein that regulates spliceosome assembly and pre-mRNA alternative splicing through its RNA binding activity. Mutations cause neurodevelopmental disorders with intellectual disability, and the gene follows an autosomal dominant inheritance pattern. SCAF11 is highly constrained against loss-of-function variants, indicating that protein function is critical for normal development.

OMIM ResearchSummary from RefSeq, UniProt

Enables RNA binding activity. Involved in spliceosomal complex assembly. Located in nuclear body and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM 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

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted