SKOR2

Chr 18q21.1

SKI family transcriptional corepressor 2

Aliases:: CORL2, FUSSEL18, Fussel-18
MANE:: ENST00000425639.3

OMIM: 617138 ↗NCBI: 652991 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SKOR2 · Q2VWA4

v62025-08-01

Predicted Aligned Error matrix for SKOR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

51.6/ 100

Low

1,015 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)11%
Low(50–70)10%
Very low(< 50)67%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Gait ataxia
0.42
Mild intellectual disability
0.42
Dysarthria
0.42
Abnormality of the skeletal system
0.42
alcohol drinking
0.31
seborrheic keratosis
0.29
synovium disorder
0.26
migraine disorder
0.23
Alzheimer disease
0.21
dermatophytosis
0.21

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

SKI family transcriptional corepressor 2

Has transcriptional corepressor activity. In the developing cerebellum, it downregulates BMP signaling resulting in up-regulation of SHH expression in Purkinje cells and promoting their early differentiation. It is also involved in regulating the proliferation of cerebellar granule cell precursors