ANAPC2
Anaphase Promoting Complex Subunit 2
Gene Information Card
| Symbol | ANAPC2 |
|---|---|
| Full Name | Anaphase Promoting Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 29882 ncbi.nlm.nih.gov/gene/29882 |
| Ensembl ID | ENSG00000136826 |
| UniProt ID | Q9UJX6 |
| OMIM ID | 606949 |
| HGNC ID | 15789 |
| Aliases | APC2, KIAA1406 |
Description
ANAPC2 encodes a core subunit of the anaphase-promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C targets specific proteins for degradation by the 26S proteasome, including securin and cyclins, thereby ensuring proper chromosome segregation and mitotic exit.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered APC/C activity may contribute to chromosomal instability | COSMIC database reports somatic mutations in colorectal tumors |
| Ovarian cancer | Dysregulation of APC/C subunits linked to aneuploidy | COSMIC database reports somatic mutations in ovarian tumors |
| Breast cancer | Overexpression or mutation of APC/C components associated with poor prognosis | COSMIC database reports somatic mutations in breast tumors |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Brain | 8.9 | Low |
| Liver | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.5 | Embryonic kidney cell line |
| HeLa | 16.2 | Cervical cancer cell line |
| K562 | 14.0 | Leukemia cell line |
| MCF7 | 12.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function; predicted to cause protein truncation |
| c.567G>A (p.Met189Ile) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.890_891insA (p.Val297fs) | Frameshift | <0.1% | Loss of function; frameshift leading to premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in ANAPC2 are predicted to result in truncated or absent protein, impairing APC/C ubiquitin ligase activity and causing mitotic arrest or chromosomal instability.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ANAPC2.
Dominant Negative (DN)
No dominant-negative mutations have been described for ANAPC2.
View complete mutation data：
Gene Ontology (GO)
| • ubiquitin ligase activity | • anaphase-promoting complex |
| • cell cycle | • mitotic cell cycle |
| • protein ubiquitination | • ubiquitin-dependent protein catabolic process |
Pathways
• Cell Cycle
• Mitotic
• APC/C-mediated degradation of cell cycle proteins
• Ubiquitin mediated proteolysis
Protein Summary
ANAPC2 is a 822-amino acid protein that serves as a scaffold within the APC/C complex. It contains a cullin homology domain and interacts with other subunits to assemble the catalytic core. The protein is essential for ubiquitin ligase activity and is regulated by phosphorylation and association with coactivators such as CDC20 and CDH1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID |
|---|
