AP2A2
Adaptor Related Protein Complex 2 Subunit Alpha 2
Gene Information Card
| Symbol | AP2A2 |
|---|---|
| Full Name | Adaptor Related Protein Complex 2 Subunit Alpha 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 11p15.5 |
| NCBI Gene ID | 161 ncbi.nlm.nih.gov/gene/161 |
| Ensembl ID | ENSG00000183044 |
| UniProt ID | O94973 |
| OMIM ID | 607242 |
| HGNC ID | 562 |
| Aliases | ADTAB, CLAPA2, AP-2 complex subunit alpha-2, alpha-adaptin C |
Description
AP2A2 encodes the alpha-2 subunit of the adaptor protein complex 2 (AP-2), which is essential for clathrin-mediated endocytosis. The AP-2 complex links clathrin to the plasma membrane and selects cargo proteins for internalization. AP2A2 is ubiquitously expressed and plays a critical role in synaptic vesicle recycling, nutrient uptake, and receptor signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, autosomal dominant 66 (MRD66) | Missense variants in AP2A2 impair endocytic trafficking, leading to neuronal dysfunction | ClinVar; OMIM #618674 |
| Epileptic encephalopathy, early infantile | De novo loss-of-function mutations disrupt synaptic vesicle recycling | ClinVar; PubMed: 31036917 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 38.5 | High |
| Testis | 25.2 | Medium |
| Lung | 18.7 | Medium |
| Liver | 12.3 | Low |
| Heart | 10.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 42.1 | High expression |
| SH-SY5Y | 36.8 | Neuronal model |
| HeLa | 30.5 | Cervical cancer line |
| K562 | 22.4 | Leukemia line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045G>A (p.Glu349Lys) | Missense | Rare | Impaired cargo binding; associated with MRD66 |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression; epileptic encephalopathy |
| c.226C>T (p.Arg76Trp) | Missense | Rare | Reduced AP-2 complex stability |
Mutation functional classification
Loss of Function (LOF)
Start loss and nonsense variants reduce AP2A2 protein levels, impairing endocytosis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense variants like p.Glu349Lys disrupt cargo recognition and may exert dominant-negative effects on the AP-2 complex.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity | • protein binding |
| • intracellular protein transport | • vesicle-mediated transport |
| • endocytosis |
Pathways
• Clathrin-mediated endocytosis (KEGG: hsa04144)
• Synaptic vesicle cycle (KEGG: hsa04721)
• Endocytosis (Reactome: R-HSA-199991)
Protein Summary
AP2A2 is a 939-amino acid protein that forms the large alpha subunit of the AP-2 complex. It contains a trunk domain that binds cargo and clathrin, and a hinge domain that interacts with accessory proteins. The protein is essential for efficient endocytosis and is highly conserved across species.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP2A2 Knockout HEK293 Cell Line | EDJ-KQ4020 | Human | 161 | Details Get a Quote |
| AP2A2 Knockout A-549 Cell Line | EDJ-KQ26356 | Human | 161 | Details Get a Quote |
| AP2A2 Knockout HCT 116 Cell Line | EDJ-KQ26357 | Human | 161 | Details Get a Quote |
| AP2A2 Knockout HeLa Cell Line | EDJ-KQ26358 | Human | 161 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
