0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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12PubMed Papers
20Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuscytoplasmSMAD bindingsequence-specific double-stranded DNA bindingAbnormality of the skeletal systemDysarthriaMild intellectual disabilityGait ataxia
AI summary not yet available. Showing NCBI Gene summary.
SKI family transcriptional corepressor 2
⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Abnormality of the skeletal systemOpen Targets
Mild intellectual disabilityOpen Targets
seborrheic keratosisOpen Targets
synovium disorderOpen Targets
alcohol drinkingOpen Targets
migraine disorderOpen Targets
Alzheimer diseaseOpen Targets
ankylosing spondylitisOpen Targets
tooth diseaseOpen Targets
placental retentionOpen Targets
breast adenosisOpen Targets
Spinocerebellar ataxia type 41Open Targets
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10Open Targets
spinocerebellar ataxia type 35Open Targets
Autosomal recessive cerebellar ataxia - psychomotor retardationOpen Targets
NM_001278063.4(SKOR2):c.1271_1274del (p.Lys424fs)Pathogenic
Dysarthria;Mild intellectual disability;Gait ataxia
★☆☆☆→ Residue 424
NM_001278063.4(SKOR2):c.2750C>G (p.Ser917Ter)Pathogenic
Valence-Farazi cerebellar ataxia syndrome
☆☆☆☆2025→ Residue 917
NM_001278063.4(SKOR2):c.374G>C (p.Arg125Pro)Pathogenic
Mild intellectual disability;Gait ataxia;Dysarthria
☆☆☆☆→ Residue 125