UBAC2
Chr 13UBA domain containing 2
Also known as: PHGDHL1
The UBAC2 protein restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets and negatively regulates canonical Wnt signaling by promoting ubiquitin-mediated degradation of key Wnt pathway components including CTNNB1 and receptors FZD6 and LRP6. Mutations cause autosomal recessive intellectual disability with microcephaly, seizures, and spasticity. The gene shows tolerance to loss-of-function variants (LOEUF 0.696), suggesting the recessive inheritance pattern reflects the need for complete loss of function to produce disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
UBAC2 · 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