ATG12

Chr 5q22.3

autophagy related 12

Aliases:: APG12
MANE:: ENST00000509910.2

OMIM: 609608 ↗NCBI: 9140 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ATG12 · O94817

v62025-08-01

Predicted Aligned Error matrix for ATG12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

78.9/ 100

Confident

140 residues

Confidence breakdown

Very high(≥ 90)55%
Confident(70–90)9%
Low(50–70)26%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodegenerative disease
0.53
mitochondrial disease
0.39
neurodevelopmental disorder
0.30
Hypoplasia of the corpus callosum
0.25
Cerebellar hypoplasia
0.25
neoplasm
0.10
breast carcinoma
0.10
breast cancer
0.10
hepatocellular carcinoma
0.09
renal cell carcinoma
0.09

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Ubiquitin-like protein ATG12

Ubiquitin-like protein involved in autophagy vesicles formation. Conjugation with ATG5 through a ubiquitin-like conjugating system involving also ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. As part of the ATG8 conjugation system with ATG5 and ATG16L1, required for recruitment of LRRK2 to stressed lysosomes and induction of LRRK2 kinase activity in response to lysosomal stress (By similarity)