UBXN11
Chr 1UBX domain protein 11
Also known as: COA-1, PP2243, SOC, SOCI, UBXD5
The protein contains a UBX domain and regulates actin cytoskeleton reorganization by interacting with Rho GTPases and promoting RHOA activation through G-protein signaling pathways. Mutations cause autosomal recessive intellectual disability with seizures and characteristic dysmorphic features. This gene is extremely intolerant to loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
136 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 5 | 0 | 5 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 87 | 5 | 0 | 92 |
Likely Benign | 0 | 8 | 0 | 1 | 9 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 95 | 10 | 1 | 106 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
UBXN11 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools