AP2M1
Adaptor Related Protein Complex 2 Subunit Mu 1
Gene Information Card
| Symbol | AP2M1 |
|---|---|
| Full Name | Adaptor Related Protein Complex 2 Subunit Mu 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q27.1 |
| NCBI Gene ID | 1173 ncbi.nlm.nih.gov/gene/1173 |
| Ensembl ID | ENSG00000161203 |
| UniProt ID | Q96CW1 |
| OMIM ID | 603401 |
| HGNC ID | 564 |
| Aliases | AP50, CLAPM1, mu2, AP-2 mu chain |
Description
AP2M1 encodes the mu subunit of the adaptor protein complex 2 (AP-2), which is essential for clathrin-mediated endocytosis. The mu subunit recognizes tyrosine-based sorting signals within the cytoplasmic tails of transmembrane receptors, facilitating cargo selection and vesicle formation. AP2M1 is ubiquitously expressed and plays critical roles in receptor internalization, synaptic vesicle recycling, and nutrient uptake.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | AP2M1 mutations impair endocytosis of growth factor receptors, leading to sustained signaling | COSMIC, ClinVar |
| Breast cancer | Altered AP2M1 expression disrupts EGFR internalization and degradation | NCBI Gene, PubMed |
| Neurodegenerative disorders | Defective AP-2 function affects synaptic vesicle recycling and neuronal survival | OMIM, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 25.3 | High |
| Liver | 18.7 | Medium |
| Kidney | 22.1 | Medium |
| Heart | 15.4 | Medium |
| Lung | 20.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 28.5 | Cervical cancer cell line |
| HEK293 | 32.1 | Embryonic kidney cells |
| SH-SY5Y | 26.7 | Neuroblastoma cell line |
| MCF7 | 19.3 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.449G>A (p.Arg150His) | Missense | 0.02% | Altered cargo recognition; associated with colorectal cancer |
| c.1126C>T (p.Arg376Trp) | Missense | 0.01% | Impaired clathrin binding; reported in breast cancer |
| c.1438_1440del (p.Lys480del) | In-frame deletion | <0.01% | Disrupts AP-2 complex assembly |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the cargo-binding domain reduce endocytic efficiency.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Deletion mutants that disrupt AP-2 complex formation can exert dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity | • protein binding |
| • intracellular protein transport | • endocytosis |
| • synaptic vesicle endocytosis |
Pathways
• Clathrin-mediated endocytosis (KEGG: hsa04144)
• Synaptic vesicle cycle (KEGG: hsa04721)
• EGFR internalization (Reactome: R-HSA-182971)
Protein Summary
AP2M1 is a 435-amino-acid protein (50 kDa) that forms the mu subunit of the AP-2 adaptor complex. It contains a longin domain and a mu homology domain that binds tyrosine-based sorting signals (YXXΦ motif). The protein is essential for clathrin-coated vesicle formation and is highly conserved across eukaryotes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP2M1 Knockout HEK293 Cell Line | EDJ-KQ4286 | Human | 1173 | Details Get a Quote |
| AP2M1 Knockout A-549 Cell Line | EDJ-KQ25468 | Human | 1173 | Details Get a Quote |
| AP2M1 Knockout HCT 116 Cell Line | EDJ-KQ26769 | Human | 1173 | Details Get a Quote |
| AP2M1 Knockout HeLa Cell Line | EDJ-KQ26770 | Human | 1173 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
