UBAC2
Chr 13UBA domain containing 2
Acts as an ER-phagy receptor required for the selective autophagic degradation of endoplasmic reticulum (ER) fragments to maintain ER homeostasis and restrain ER stress-induced inflammatory responses (PubMed:39284914). Its function depends on phosphorylation-induced dimerization, which enhances interaction with GABARAP and facilitates recruitment of ER fragments to autophagosomes (PubMed:39284914). Restricts trafficking of FAF2 from the endoplasmic reticulum to lipid droplets (PubMed:23297223). In association with LMBR1L and E3 ubiquitin-protein ligase AMFR, negatively regulates the canonical Wnt signaling pathway in the lymphocytes by promoting the ubiquitin-mediated degradation of CTNNB1 and Wnt receptors FZD6 and LRP6 (PubMed:31073040)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar
No ClinVar data available.
Protein Context — Lollipop Plot
UBAC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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.
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Links to major genomics databases and tools