UBAC2

Chr 13

UBA 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)

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
0.70
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.70LOEUF
pLI 0.006
Z-score 2.53
OE 0.37 (0.210.70)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.57Z-score
OE missense 0.68 (0.580.78)
126 obs / 186.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.210.70)
00.351.4
Missense OE?0.68 (0.580.78)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 7 / 18.9Missense obs/exp: 126 / 186.4Syn Z: 0.71

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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