AP3S2 Gene
Adaptor Related Protein Complex 3 Subunit Sigma 2
Gene Information Card
| Symbol | AP3S2 |
|---|---|
| Full Name | Adaptor Related Protein Complex 3 Subunit Sigma 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 10239 ncbi.nlm.nih.gov/gene/10239 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9Y2T2 |
| OMIM ID | 602416 |
| HGNC ID | 569 |
| Aliases | AP3S2, sigma3B, CLAPS3, sigma-3B-adaptin |
Description
AP3S2 encodes the sigma 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 sigma subunit is essential for complex assembly and cargo recognition.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hermansky-Pudlak syndrome (HPS) | Defective AP-3 complex impairs lysosome-related organelle biogenesis, leading to albinism and bleeding diathesis. | ClinVar, OMIM |
| Epileptic encephalopathy | Loss-of-function variants in AP3S2 disrupt synaptic vesicle trafficking, causing early-onset seizures. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuronal cell line |
| HEK293 | 10.8 | Embryonic kidney |
| HeLa | 9.4 | Cervical carcinoma |
| K562 | 7.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116*) | Nonsense | <0.01% | Loss of function; associated with epileptic encephalopathy |
| c.448G>A (p.Gly150Arg) | Missense | <0.01% | Impaired AP-3 complex assembly; linked to HPS |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants cause premature truncation, leading to AP-3 complex instability and impaired vesicle trafficking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may disrupt subunit interactions, exerting a dominant-negative effect on complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • clathrin adaptor complex | • intracellular protein transport |
| • vesicle-mediated transport | • protein binding |
| • Golgi to lysosome transport |
Pathways
• Clathrin-mediated endocytosis
• Lysosome biogenesis
• AP-3 complex pathway
Protein Summary
AP3S2 is a 193-amino-acid protein (22 kDa) that forms the sigma subunit of the AP-3 complex. It localizes to the trans-Golgi network and endosomes, facilitating cargo selection and vesicle budding. Mutations cause neurological and pigmentation disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AP3S2 Knockout HEK293 Cell Line | EDJ-KQ6340 | Human | 10239 | Details Get a Quote |
| AP3S2 Knockout A-549 Cell Line | EDJ-KQ31660 | Human | 10239 | Details Get a Quote |
| AP3S2 Knockout HCT 116 Cell Line | EDJ-KQ31661 | Human | 10239 | Details Get a Quote |
| AP3S2 Knockout HeLa Cell Line | EDJ-KQ31662 | Human | 10239 | Details Get a Quote |
| ARPIN-AP3S2 Knockout HEK293 Cell Line | EDJ-KQ52476 | Human | 100526783 | Details Get a Quote |
| ARPIN-AP3S2 Knockout HeLa Cell Line | EDJ-KQ60939 | Human | 100526783 | Details Get a Quote |
| ARPIN-AP3S2 Knockout A-549 Cell Line | EDJ-KQ69414 | Human | 100526783 | Details Get a Quote |
| ARPIN-AP3S2 Knockout HCT 116 Cell Line | EDJ-KQ77765 | Human | 100526783 | Details Get a Quote |
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