ATG12

Chr 5

autophagy related 12

Also known as: APG12, APG12L, FBR93, HAPG12

NCBI Gene: 9140ENSG00000145782UniProt: O94817

Autophagy is a process of bulk protein degradation in which cytoplasmic components, including organelles, are enclosed in double-membrane structures called autophagosomes and delivered to lysosomes or vacuoles for degradation. ATG12 is the human homolog of a yeast protein involved in autophagy (Mizushima et al., 1998 [PubMed 9852036]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
LOFmechanismLOEUF 1.74
Clinical Summary— ATG12
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.74LOEUF
pLI 0.000
Z-score -0.06
OE 1.02 (0.60–1.74)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.37Z-score
OE missense 1.45 (1.24–1.70)
106 obs / 73.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.02 (0.60–1.74)
0≤0.351.4
Missense OE?1.45 (1.24–1.70)
0≤0.61.4
Synonymous OE?1.47
0≤1.21.6
LoF obs/exp: 8 / 7.8Missense obs/exp: 106 / 73.1Syn Z: -1.97

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ATG12 · 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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients