APBA2
Summary: The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2017].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| amyloid beta precursor protein binding family A member 2 | MIM:602712 | Ensembl:ENSG00000034053 | HGNC:HGNC:579 | PA24870 | 15q13.1 |
GO terms in APBA2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IBA | GO:0005737 | cytoplasm |
| CC | IBA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | IEA | GO:0008021 | synaptic vesicle |
| CC | IBA | GO:0043197 | dendritic spine |
| CC | IBA | GO:0045202 | synapse |
| BP | IEA | GO:0001701 | in utero embryonic development |
| BP | IBA | GO:0007268 | chemical synaptic transmission |
| BP | IEA | GO:0007268 | chemical synaptic transmission |
| BP | TAS | GO:0007399 | nervous system development |
| BP | IEA | GO:0007626 | locomotory behavior |
| BP | IEA | GO:0010468 | regulation of gene expression |
| BP | IEA | GO:0015031 | protein transport |
| BP | IBA | GO:0023051 | regulation of signaling |
| BP | IEA | GO:0035264 | multicellular organism growth |
| MF | IBA | GO:0001540 | amyloid-beta binding |
| MF | IEA | GO:0001540 | amyloid-beta binding |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: APBA2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in APBA2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-112316 | Neuronal System |
| reactome | R-HSA-6794361 | Neurexins and neuroligins |
| reactome | R-HSA-6794362 | Protein-protein interactions at synapses |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in APBA2
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