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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APBB3
amyloid beta precursor protein binding family B member 3
Chromosome 5 · 5q31.3
NCBI Gene: 10307Ensembl: ENSG00000113108.21HGNC: HGNC:20708UniProt: O95704
26PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytosolmembranenuclear bodyAlzheimer diseaseneurodegenerative diseaselysosomal storage diseasemultiple sclerosis
✦AI Summary

APBB3 (amyloid beta precursor protein binding family B member 3) is a protein adapter that modulates amyloid-beta precursor protein (APP) internalization and participates in cholesterol homeostasis pathways relevant to neurological disease. As a member of the Fe65 protein family, APBB3 interacts with the intracellular domain of APP 1 and functions as a molecular adaptor containing phosphotyrosine-interaction domains and a WW domain 2. APBB3 tethers APP to lipoprotein receptors at the cytoplasmic domain 3, playing a role in the cerebral cholesterol shuttle pathway implicated in Alzheimer's disease pathogenesis. The protein exhibits antiapoptotic properties through a conserved C-terminal TR2(L) sequence that confers resistance to TNF-mediated cell death 4. Notably, APBB3 overexpression increases secretion of beta-amyloid peptides 5, linking it directly to amyloid pathology. APBB3 expression is differentially regulated in mood disorders; it was identified among 12 genes showing altered expression in depressed patients with bipolar disorder or major depressive disorder, with mRNA levels correlating with neuroimaging abnormalities in brain regions including the amygdala and hippocampus 6. These findings suggest APBB3 may bridge molecular-level immune dysfunction to neurological disease phenotypes through APP metabolism and amyloid-beta generation.

Sources cited
1
APBB3/Fe65L2 interacts with the intracellular domain of APP and shares structural characteristics with other Fe65 family members
PMID: 9461550
2
Human Fe65L2 (APBB3) contains three protein-protein interaction domains (WW and two PID/PTB elements) and interacts with APP and APP-like proteins
PMID: 10081969
3
APBB3 tethers APP to lipoprotein receptors LRP1 via the cytoplasmic domain as part of the cerebral cholesterol shuttle pathway implicated in Alzheimer's disease
PMID: 16973241
4
FE65L proteins possess a C-terminal TR2(L) apoptosis-inhibitory domain that confers resistance to TNF-mediated cell death
PMID: 11027557
5
Fe65L2 (APBB3) overexpression increases secretion of beta-amyloid peptides Aβ40 and Aβ42, with regulation by alternative splicing
PMID: 12153398
6
APBB3 is differentially expressed in depressed patients with mood disorders and correlates with hemodynamic response in amygdala, vmPFC, and hippocampus
PMID: 23064081
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.26Weak
lysosomal storage diseaseOpen Targets
0.26Weak
multiple sclerosisOpen Targets
0.26Weak
Parkinson diseaseOpen Targets
0.26Weak
hepatitis B virus infectionOpen Targets
0.06Suggestive
immunodeficiency 88Open Targets
0.05Suggestive
linear and whorled nevoid hypermelanosisOpen Targets
0.05Suggestive
chronic myeloproliferative disorderOpen Targets
0.05Suggestive
eosinophil peroxidase deficiencyOpen Targets
0.04Suggestive
breast cancerOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
lymphomaOpen Targets
0.04Suggestive
ichthyosis prematurity syndromeOpen Targets
0.04Suggestive
acute myelomonocytic leukemiaOpen Targets
0.04Suggestive
systemic lupus erythematosusOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.03Suggestive
SepsisOpen Targets
0.03Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APLP2Protein interaction98%APPProtein interaction98%APLP1Protein interaction80%RHOBTB1Protein interaction72%COPS4Protein interaction70%FRMD4AShared pathway33%
Tissue Expression6 tissues
Ovary
100%
Liver
65%
Lung
42%
Heart
21%
Bone Marrow
21%
Brain
13%
Gene Interaction Network
Click a node to explore
APBB3APLP2APPAPLP1RHOBTB1COPS4FRMD4A
PROTEIN STRUCTURE
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PDB2DYQ · 3.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.61–0.97]
RankingsWhere APBB3 stands among ~20K protein-coding genes
  • #12,734of 20,598
    Most Researched26
  • #9,255of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedAPBB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PMID: 33712570
1.00
2
Inflammation and neurological disease-related genes are differentially expressed in depressed patients with mood disorders and correlate with morphometric and functional imaging abnormalities.
PMID: 23064081
Brain Behav Immun · 2013
0.90
3
Convergence of genes implicated in Alzheimer's disease on the cerebral cholesterol shuttle: APP, cholesterol, lipoproteins, and atherosclerosis.
PMID: 16973241
Neurochem Int · 2007
0.80
4
Two RFLPS (AciI; c954C/T and FokI; c1023FokIT/C) within the coding region of the gene for human Fe65L2, a protein which interacts with Alzheimer beta-amyloid precursor protein.
PMID: 10612846
Hum Mutat · 2000
0.70
5
Genome structure and chromosomal mapping of the gene for Fe65L2 interacting with Alzheimer's beta-amyloid precursor protein.
PMID: 10329396
Biochem Biophys Res Commun · 1999
0.60