APBB2 Gene Summary [Human]
The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Details
| Type | Protein Coding |
| Official Symbol | APBB2 |
| Official Name | amyloid beta precursor protein binding family B member 2 [Source:HGNC Symbol;Acc:HGNC:582] |
| Ensembl ID | ENSG00000163697 |
| Bio databases IDs | |
| Aliases | amyloid beta precursor protein binding family B member 2, Fe65-like |
| Synonyms | 2310007D03RIK, amyloid beta precursor protein binding family B member 2, amyloid β precursor protein binding family B member 2, DKFZp434E033, FE65L, FE65L1, Fe65-like, RGD1562438, Rirl1, TR2L, Zfra |
| 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 APBB2 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 with 2 conserved Trp (W) residues
- WW
- protein binding
- phosphotyrosine binding domain
- Pleckstrin homology-like domain
- WW domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- Hutchinson-Gilford progeria syndrome
- dental caries
- open-angle glaucoma
- Alzheimer disease
role in cell
- expression in
- migration
- apoptosis
- cell cycle progression
- outgrowth
- formation
- organization
- guidance
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
- Nucleus
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
- Golgi membrane
- growth cone
- synapse
- early endosomes
- lamellipodia
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human APBB2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of transcription from RNA polymerase II promoter
- neuron migration
- smooth muscle contraction
- synapse organization
- negative regulation of apoptotic process
- positive regulation of apoptotic process
- extracellular matrix organization
- regulation of transcription, DNA-dependent
- axon guidance
- positive regulation of transcription from RNA polymerase II promoter
- intracellular signal transduction
Cellular Component
Where in the cell the gene product is active
- growth cone
- nucleus
- early endosome
- cytoplasm
- membrane
- Golgi apparatus
- endoplasmic reticulum
- synapse
- lamellipodium
Molecular Function
What the gene product does at the molecular level
- protein binding
- transcription factor binding
- beta-amyloid binding