APC2

Chr 19p13.3

APC regulator of Wnt signaling pathway 2

Aliases:: APCL
MANE:: ENST00000590469.6

OMIM: 612034 ↗NCBI: 10297 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

APC2 · O95996

v62025-08-01

Predicted Aligned Error matrix for APC2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

48.0/ 100

Very low

2,303 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)8%
Low(50–70)6%
Very low(< 50)70%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Malformations of cortical development
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

complex cortical dysplasia with other brain malformations
0.72
Sotos syndrome
0.60
intellectual developmental disorder, autosomal recessive 74
0.60
lissencephaly spectrum disorders
0.38
neurodegenerative disease
0.34
esophageal atresia/tracheoesophageal fistula
0.26
Tracheoesophageal fistula
0.26
hereditary disease
0.19
benign neoplasm of eye
0.19
response to COVID-19 vaccine
0.17

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

Protein function (UniProt)

Anaphase-promoting complex subunit 2

Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through the cell cycle (PubMed:11739784, PubMed:18485873, PubMed:27120157, PubMed:27509861). Together with the RING-H2 protein ANAPC11, forms the catalytic component of the E3 ubiquitin ligase complex (PubMed:11739784, PubMed:18485873, PubMed:27120157, PubMed:27509861). APC/C acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains (PubMed:11739784, PubMed:18485873). APC/C catalyzes assembly of branched 'Lys-11'-/'Lys-48'-linked branched ubiquitin chains on target proteins (PubMed:29033132). APC/C is activated by CDC20 in the metaphase/anaphase transition of cell cycle, targeting the degradation of cyclin B and securin (PubMed:27120157, PubMed:27509861). APC/C is regulated by the mitotic checkpoint complex (MCC), which inhibits APC/C and delays chromosome segregation (PubMed:27509861). The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons (By similarity). CDC20-APC/C-induced degradation of NEUROD2 drives presynaptic differentiation (By similarity)