APBB2: Amyloid Beta Precursor Protein Binding Family B Member 2
A key regulator of amyloid precursor protein processing and Alzheimer's disease risk
Gene Information Card
| Symbol | APBB2 |
|---|---|
| Full Name | Amyloid Beta Precursor Protein Binding Family B Member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p14-p13 |
| NCBI Gene ID | 323 ncbi.nlm.nih.gov/gene/323 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | Q92870 |
| OMIM ID | 602709 |
| HGNC ID | 582 |
| Aliases | FE65L1, MGC:8682, FE65-like 1 |
Description
APBB2 (Amyloid Beta Precursor Protein Binding Family B Member 2) encodes a member of the FE65 protein family, which functions as an adaptor protein that binds to the intracellular domain of the amyloid beta precursor protein (APP). This interaction is critical for APP processing and signaling, influencing the production of amyloid-beta peptides implicated in Alzheimer's disease pathology. APBB2 is also involved in transcriptional regulation, cell adhesion, and neuronal development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | APBB2 binds APP and modulates gamma-secretase cleavage, affecting amyloid-beta production; variants may alter APP processing and increase Aβ42/Aβ40 ratio. | OMIM #602709; NCBI Gene; ClinVar |
| Breast cancer | APBB2 overexpression may influence cell proliferation and migration through APP-independent pathways. | COSMIC; NCBI Gene |
| Intellectual disability | Rare variants in APBB2 have been associated with neurodevelopmental phenotypes. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Adrenal gland | 8.2 | Low |
| Thyroid | 6.1 | Low |
| Testis | 5.4 | Low |
| Lung | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model; high expression |
| HEK293 (embryonic kidney) | 8.7 | Moderate expression |
| HeLa (cervical carcinoma) | 6.3 | Low expression |
| MCF7 (breast cancer) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Ser) | missense | <0.01% | Unknown; reported in ClinVar |
| c.1012C>T (p.Arg338Trp) | missense | <0.01% | Likely benign; ClinVar |
| c.1543A>G (p.Ile515Val) | missense | <0.01% | Uncertain significance; ClinVar |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Alzheimer's disease - amyloid precursor protein processing (Reactome: R-HSA-977225)
• APP interacts with FE65 (Reactome: R-HSA-5696399)
• Signaling by APP (Reactome: R-HSA-1989781)
Protein Summary
APBB2 (FE65L1) is a 729-amino acid adaptor protein containing two phosphotyrosine-binding (PTB) domains and a WW domain. It binds the YENPTY motif in the APP intracellular domain, facilitating APP processing and nuclear signaling. The protein shuttles between the cytoplasm and nucleus, where it can modulate transcription via interaction with Tip60 and other factors. APBB2 is predominantly expressed in brain and is implicated in Alzheimer's disease pathogenesis through its role in amyloid-beta production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| APBB2 Knockout HEK293 Cell Line | EDJ-KQ4062 | Human | 323 | Details Get a Quote |
| APBB2 Knockout A-549 Cell Line | EDJ-KQ26426 | Human | 323 | Details Get a Quote |
| APBB2 Knockout HCT 116 Cell Line | EDJ-KQ26427 | Human | 323 | Details Get a Quote |
| APBB2 Knockout HeLa Cell Line | EDJ-KQ26428 | Human | 323 | Details Get a Quote |
