SKOR2

Chr 18

SKI family transcriptional corepressor 2

Also known as: CH18515, CORL2, FUSSEL18, VAFCAS

NCBI Gene: 652991 ENSG00000215474 UniProt: Q2VWA4

SKOR2 encodes a transcriptional repressor that binds SMAD proteins and negatively regulates TGF-beta signaling in the nervous system. Mutations cause Valence-Farazi cerebellar ataxia syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (LOEUF 0.436), consistent with its essential role in cerebellar development and function.

ResearchSummary from RefSeq, OMIM, UniProt

Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtValence-Farazi cerebellar ataxia syndrome

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

0.44

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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