AP3B2
Adaptor Related Protein Complex 3 Subunit Beta 2
Gene Information Card
| Symbol | AP3B2 |
|---|---|
| Full Name | Adaptor Related Protein Complex 3 Subunit Beta 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q25.2 |
| NCBI Gene ID | 8120 ncbi.nlm.nih.gov/gene/8120 |
| Ensembl ID | ENSG00000103723 |
| UniProt ID | Q13367 |
| OMIM ID | 602166 |
| HGNC ID | 567 |
| Aliases | AP-3 complex beta-2 subunit, ADTB3B, HPS2B, AP3B2A |
Description
AP3B2 encodes the beta-2 subunit of the adaptor protein complex 3 (AP-3), which is involved in sorting transmembrane proteins to lysosomes and lysosome-related organelles. Mutations in this gene are associated with neurodevelopmental disorders, including epilepsy and intellectual disability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 48 | Loss-of-function mutations impair AP-3 complex function, disrupting synaptic vesicle recycling and neurotransmitter release | ClinVar, OMIM |
| Hermansky-Pudlak syndrome 2 (atypical) | Defective AP-3 complex leads to abnormal lysosome-related organelle biogenesis | OMIM |
| Neurodevelopmental disorder with hypotonia and seizures | Biallelic AP3B2 variants cause synaptic dysfunction | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Adrenal gland | 2.1 | Low |
| Lung | 1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.0 | Neuronal model |
| HEK293 (embryonic kidney) | 0.5 | Low expression |
| U-87 MG (glioblastoma) | 8.3 | Moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Ter) | Nonsense | Rare | Loss of function |
| c.1285G>A (p.Gly429Arg) | Missense | Very rare | Likely damaging |
| c.1567_1568del (p.Leu523fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, impairing AP-3 complex assembly and function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may disrupt complex formation, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
| • protein transport | • intracellular protein transport |
| • vesicle-mediated transport | • lysosomal transport |
| • synaptic vesicle recycling |
Pathways
• AP-3 complex-mediated transport
• Lysosome biogenesis
• Synaptic vesicle cycle
Protein Summary
AP3B2 is a 100 kDa protein that forms part of the heterotetrameric AP-3 complex. It binds clathrin and cargo proteins, facilitating vesicle formation at the trans-Golgi network and endosomes. In neurons, it is critical for synaptic vesicle recycling and neurotransmitter release.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP3B2 Knockout HEK293 Cell Line | EDJ-KQ6174 | Human | 8120 | Details Get a Quote |
| AP3B2 Knockout HeLa Cell Line | EDJ-KQ54824 | Human | 8120 | Details Get a Quote |
| AP3B2 Knockout A-549 Cell Line | EDJ-KQ63315 | Human | 8120 | Details Get a Quote |
| AP3B2 Knockout HCT 116 Cell Line | EDJ-KQ71786 | Human | 8120 | Details Get a Quote |
