AP3B2
Summary: Adaptor protein complex 3 (AP-3 complex) is a heterotrimeric protein complex involved in the formation of clathrin-coated synaptic vesicles. The protein encoded by this gene represents the beta subunit of the neuron-specific AP-3 complex and was first identified as the target antigen in human paraneoplastic neurologic disorders. The encoded subunit binds clathrin and is phosphorylated by a casein kinase-like protein, which mediates synaptic vesicle coat assembly. Defects in this gene are a cause of early-onset epileptic encephalopathy. [provided by RefSeq, Feb 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:602166 Ensembl IDEnsembl:ENSG00000103723 HGNC IDHGNC:HGNC:567 PHARMGKB IDPA24858 Map Location15q25.2 | |||||
Gene Categories:
TRANSPORTERGO terms in AP3B2
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0006886 | intracellular protein transport |
| BP | TAS | GO:0006892 | post-Golgi vesicle-mediated transport |
| BP | ISS | GO:0008089 | anterograde axonal transport |
| BP | ISS | GO:0048490 | anterograde synaptic vesicle transport |
| CC | IEA | GO:0005794 | Golgi apparatus |
| CC | IEA | GO:0030123 | AP-3 adaptor complex |
Gene expression in normal tissue: AP3B2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in AP3B2
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04142 | Lysosome - Homo sapiens (human) |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in AP3B2
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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