APBA2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | APBA2 |
| Official Name | amyloid beta precursor protein binding family A member 2 [Source:HGNC Symbol;Acc:HGNC:579] |
| Ensembl ID | ENSG00000034053 |
| Bio databases IDs | |
| Aliases | amyloid beta precursor protein binding family A member 2 |
| Synonyms | amyloid beta precursor protein binding family A member 2, amyloid β precursor protein binding family A member 2, D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, mXllL, X11-BETA, X11L, X11-like, X11-β, XllL |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human APBA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- munc-18 binding domain
- canonical PDZ domain
- beta-amyloid binding
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- PDZ domain
- cpPDZ_Deg_HtrA-like
- identical protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- pervasive developmental disorder
- schizophrenia
- Klinefelter syndrome
- ataxia
- adenoid cystic carcinoma
- Turner syndrome
- abnormality of the integument
- SAPHO syndrome
- overall survival
role in cell
- binding in
- activity
- formation
- outgrowth
- transmission
- outgrowth in
- paired-pulse facilitation
- accumulation in
- exocytosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- presynaptic regions
- perinuclear region
- Golgi Apparatus
- Endoplasmic Reticulum
- cytosol
- trans face of the Golgi apparatus
- synapse
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APBA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- multicellular organism growth
- locomotory behavior
- in utero embryonic development
- protein transport
- regulation of gene expression
- nervous system development
- synaptic transmission
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- dendritic spine
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- beta-amyloid binding