AP3M2 Gene
Adaptor Related Protein Complex 3 Subunit Mu 2
Gene Information Card
| Symbol | AP3M2 |
|---|---|
| Full Name | Adaptor Related Protein Complex 3 Subunit Mu 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p11.21 |
| NCBI Gene ID | 10947 ncbi.nlm.nih.gov/gene/10947 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9Y6T7 |
| OMIM ID | 610466 |
| HGNC ID | 569 |
| Aliases | AP3M2, mu3B, AP-3 complex subunit mu-2 |
Description
AP3M2 encodes the mu-2 subunit of the adaptor protein complex 3 (AP-3), which is involved in clathrin-mediated vesicle trafficking from the trans-Golgi network to lysosomes and related organelles. The mu subunit recognizes tyrosine-based sorting signals in the cytoplasmic tails of transmembrane cargo proteins.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome (HPS) | Defective AP-3 complex impairs lysosomal and melanosome biogenesis | ClinVar, OMIM |
| Neurodevelopmental disorder with epilepsy and brain abnormalities | Missense variants in AP3M2 disrupt protein function | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 5.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.632G>A (p.Arg211Gln) | Missense | Rare | Likely loss of function |
| c.1045C>T (p.Arg349Trp) | Missense | Rare | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense variants affecting conserved residues may impair cargo recognition or complex assembly.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor activity | • intracellular protein transport |
| • lysosomal transport | • protein targeting to lysosome |
Pathways
• Clathrin-mediated endocytosis
• Lysosome biogenesis
Protein Summary
AP3M2 is a 420-amino acid protein that forms part of the AP-3 complex. It contains a longin domain and a mu homology domain, which mediate interactions with cargo proteins and other complex subunits. The protein is ubiquitously expressed with higher levels in brain and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP3M2 Knockout HEK293 Cell Line | EDJ-KQ6589 | Human | 10947 | Details Get a Quote |
| AP3M2 Knockout A-549 Cell Line | EDJ-KQ32185 | Human | 10947 | Details Get a Quote |
| AP3M2 Knockout HCT 116 Cell Line | EDJ-KQ32186 | Human | 10947 | Details Get a Quote |
| AP3M2 Knockout HeLa Cell Line | EDJ-KQ32187 | Human | 10947 | Details Get a Quote |
