AP1M2 Gene: Adaptor Related Protein Complex 1 Subunit Mu 2
A key component of the AP-1 clathrin adaptor complex involved in intracellular vesicle trafficking and protein sorting.
Gene Information Card
| Symbol | AP1M2 |
|---|---|
| Full Name | Adaptor Related Protein Complex 1 Subunit Mu 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.2 |
| NCBI Gene ID | 10089 ncbi.nlm.nih.gov/gene/10089 |
| Ensembl ID | ENSG00000137312 |
| UniProt ID | Q9Y6G9 |
| OMIM ID | 607309 |
| HGNC ID | 557 |
| Aliases | mu2-adaptin, AP-1 complex subunit mu-2, clathrin assembly protein complex 1 medium chain |
Description
The AP1M2 gene encodes the mu-2 subunit of the adaptor protein complex 1 (AP-1), which is involved in clathrin-dependent vesicle trafficking between the trans-Golgi network and endosomes. This subunit recognizes tyrosine-based sorting signals within the cytoplasmic tails of transmembrane proteins, facilitating their incorporation into transport vesicles. AP1M2 is essential for proper protein sorting and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered AP1M2 expression may disrupt protein trafficking, affecting cell signaling and proliferation. | COSMIC database reports somatic mutations in multiple cancer types. |
| Neurodevelopmental disorders | Potential role in neuronal vesicle trafficking; mutations may impair synaptic function. | ClinVar lists variants of uncertain significance in patients with developmental delay. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney cells |
| HeLa | 8.9 | Cervical cancer cells |
| K562 | 7.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.500G>A (p.Arg167His) | Missense | <0.01% | Unknown; likely benign |
| c.1024C>T (p.Arg342Trp) | Missense | <0.01% | Unknown; reported in ClinVar as VUS |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; predicted to impair AP-1 complex assembly or cargo recognition.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity | • intracellular protein transport |
| • vesicle-mediated transport | • protein localization to plasma membrane |
| • Golgi to endosome transport |
Pathways
• Clathrin-mediated endocytosis
• Trans-Golgi network to endosome transport
Protein Summary
The AP1M2 protein (mu2-adaptin) is a 435-amino acid subunit of the AP-1 complex. It contains a longin domain and a mu homology domain, which mediate interactions with clathrin and cargo proteins. The protein is ubiquitously expressed and localizes to the trans-Golgi network and endosomal membranes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP1M2 Knockout HEK293 Cell Line | EDJ-KQ3848 | Human | 10053 | Details Get a Quote |
| AP1M2 Knockout A-549 Cell Line | EDJ-KQ26022 | Human | 10053 | Details Get a Quote |
| AP1M2 Knockout HCT 116 Cell Line | EDJ-KQ26023 | Human | 10053 | Details Get a Quote |
| AP1M2 Knockout HeLa Cell Line | EDJ-KQ26024 | Human | 10053 | Details Get a Quote |
