UBAP2
Chr 9ubiquitin associated protein 2
Also known as: UBAP-2
This protein recruits ubiquitination machinery to RNA polymerase II for degradation when DNA repair fails and may promote degradation of ANXA2. Mutations cause autosomal recessive spastic paraplegia-80, characterized by progressive spasticity primarily affecting the lower limbs. The gene is highly intolerant to loss-of-function variants, indicating that complete loss of protein function is likely pathogenic.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UBAP2 · 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