APBB3 Gene: Structure, Function, and Clinical Significance
A comprehensive overview of the APBB3 gene, including its genomic context, expression patterns, and associated diseases.
Gene Information Card
| Symbol | APBB3 |
|---|---|
| Full Name | Amyloid Beta Precursor Protein Binding Family B Member 3 |
| Gene Type | protein coding |
| Chromosomal Location | 5q31.3 |
| NCBI Gene ID | 10307 ncbi.nlm.nih.gov/gene/10307 |
| Ensembl ID | ENSG00000113138 |
| UniProt ID | O95704 |
| OMIM ID | 602711 |
| HGNC ID | 592 |
| Aliases | FE65L2, FE65-LIKE 2 |
Description
The APBB3 gene (Amyloid Beta Precursor Protein Binding Family B Member 3), also known as FE65L2, encodes a member of the FE65 family of adaptor proteins. These proteins are characterized by the presence of a WW domain and two phosphotyrosine-binding (PTB) domains. APBB3 is known to interact with the amyloid-beta precursor protein (APP) and plays a role in various cellular processes, including signal transduction, gene transcription, and potentially in the regulation of APP processing. The protein is widely expressed, with notable levels in the brain, and has been implicated in the pathology of Alzheimer's disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Disease | Mechanism | Evidence |
| Alzheimer's disease | APBB3 interacts with the intracellular domain of APP (AICD). This interaction can influence the transcriptional activity of AICD, potentially affecting the expression of genes involved in neuronal function and survival. Altered APBB3 expression or function may contribute to the pathological processes of Alzheimer's disease. | Studies have shown that APBB3 is a component of the AICD transcriptional complex. While direct causal mutations are not established, its role in APP signaling suggests a potential involvement in the disease pathway. (Source: NCBI Gene, UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Tissue | nTPM | Level |
| Brain | 20.0 | Medium |
| Testis | 15.0 | Medium |
| Kidney | 10.0 | Low |
| Liver | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cell Line | nTPM | Notes |
| SH-SY5Y | 25.0 | Neuroblastoma cell line, high expression |
| HeLa | 12.0 | Cervical cancer cell line, moderate expression |
| HEK293 | 8.0 | Embryonic kidney cell line, low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Variant | Type | Frequency | Effect |
| No common pathogenic variants reported in ClinVar. | N/A | N/A | No established disease-causing mutations have been identified for APBB3 in major clinical databases. |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been characterized for APBB3 in disease contexts. However, given its role as an adaptor protein, a complete loss of function could potentially disrupt APP-mediated signaling pathways.
Gain of Function (GOF)
No gain-of-function mutations have been reported for APBB3.
Dominant Negative (DN)
No dominant-negative mutations have been described for APBB3.
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • signal transduction |
| • amyloid-beta binding | • nucleus |
| • cytoplasm |
Pathways
• APP processing
• Notch signaling pathway
Protein Summary
The APBB3 protein is a 60 kDa adaptor protein that belongs to the FE65 family. It contains a WW domain and two PTB domains. The first PTB domain (PTB1) interacts with the amyloid precursor protein (APP), while the second PTB domain (PTB2) can interact with other proteins, such as the low-density lipoprotein receptor-related protein (LRP). Through these interactions, APBB3 is involved in the regulation of APP processing and signal transduction. It is also found in the nucleus, where it can act as a transcriptional co-activator.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APBB3 Knockout HEK293 Cell Line | EDJ-KQ1907 | Human | 10307 | Details Get a Quote |
| APBB3 Knockout A-549 Cell Line | EDJ-KQ20517 | Human | 10307 | Details Get a Quote |
| APBB3 Knockout HCT 116 Cell Line | EDJ-KQ21816 | Human | 10307 | Details Get a Quote |
| APBB3 Knockout HeLa Cell Line | EDJ-KQ21817 | Human | 10307 | Details Get a Quote |
