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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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APBB2
amyloid beta precursor protein binding family B member 2
Chromosome 4 · 4p14-p13
NCBI Gene: 323Ensembl: ENSG00000163697.18HGNC: HGNC:582UniProt: B4DJ88
56PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IInegative regulation of transcription by RNA polymerase IInegative regulation of cell cycle phase transitionnucleushepatitis C virus infectionmathematical abilityknee fractureconduction system disorder
✦AI Summary

APBB2 (amyloid beta precursor protein binding family B member 2) is an adaptor protein that activates transcription of APP and modulates amyloid-beta processing 1. The protein maintains lens transparency and participates in hippocampal neurite branching and neuromuscular junction formation, contributing to spatial memory function [UniProt]. APBB2 functions through protein binding and intracellular signal transduction mechanisms in the cytoplasm, nucleus, and at synapses. Disease relevance of APBB2 spans multiple conditions. Genetic variants in APBB2 associate with late-onset Alzheimer's disease (LOAD), with certain SNPs showing significant association (rs13133980: OR=1.36-2.43 depending on age group) 2. APBB2 overexpression promotes beta-amyloid formation, implicating it in amyloid pathology 3. The gene also associates with severe cognitive impairment in centenarians 3 and sporadic Alzheimer's disease, particularly in younger-onset cases 4. Beyond neurodegeneration, APBB2 variants associate with opioid use disorder susceptibility 5 and amphetamine use in methadone-maintained patients 6. APBB2 is upregulated in gastric adenocarcinoma where silencing inhibits proliferation and metastasis 7, and serves as a potential biomarker for HIV-1 latency 8. Recent evidence links APBB2 variants to Takayasu arteritis angiographic patterns 9.

Sources cited
1
APBB2 activates transcription of APP
PMID: 14527950
2
APBB2 SNPs associate with late-onset Alzheimer's disease with odds ratios ranging 1.32-2.43 depending on age group
PMID: 15714520
3
APBB2 polymorphisms associate with sporadic Alzheimer's disease, particularly in younger-onset cases
PMID: 18852029
4
APBB2 overexpression promotes beta-amyloid formation; rs13133980 G allele over-represented in centenarians with severe cognitive impairment
PMID: 23384821
5
APBB2 variants associate with amphetamine use in opioid-dependent patients on methadone maintenance treatment
PMID: 29330135
6
GWAS identified variants in APBB2 associated with opioid use disorder risk
PMID: 30118972
7
APBB2 is upregulated in gastric adenocarcinoma; silencing inhibits proliferation, migration, invasion, and cell cycle progression
PMID: 34182542
8
APBB2 identified as potential biomarker for HIV-1 latency through integrated analysis
PMID: 29454027
9
APBB2 variant rs2465578 associates with Takayasu arteritis Cluster Two with evidence for chromatin interaction affecting NSUN7 expression
PMID: 41207179
Disease Associationsⓘ20
hepatitis C virus infectionOpen Targets
0.39Weak
mathematical abilityOpen Targets
0.33Weak
knee fractureOpen Targets
0.32Weak
conduction system disorderOpen Targets
0.30Weak
stomach diseaseOpen Targets
0.30Weak
sinusitisOpen Targets
0.27Weak
smoking initiationOpen Targets
0.27Weak
complicationOpen Targets
0.26Weak
medical procedureOpen Targets
0.26Weak
trauma complicationOpen Targets
0.24Weak
septic shockOpen Targets
0.22Weak
open-angle glaucomaOpen Targets
0.21Weak
ovarian neoplasmOpen Targets
0.20Weak
Ovarian EndometriosisOpen Targets
0.18Weak
oropharynx cancerOpen Targets
0.17Weak
MODYOpen Targets
0.11Weak
type 1 diabetes mellitusOpen Targets
0.11Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.10Weak
hypertrophyOpen Targets
0.10Weak
maturity-onset diabetes of the young type 6Open Targets
0.09Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
APPProtein interaction100%APBA2Protein interaction100%APBA1Protein interaction93%APBB1Protein interaction93%APLP1Protein interaction93%APLP2Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Ovary
79%
Heart
51%
Lung
42%
Liver
28%
Bone Marrow
17%
Gene Interaction Network
Click a node to explore
APBB2APPAPBA2APBA1APBB1APLP1APLP2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q5I0G1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.61Intermediate
Observed/Expected LoF0.39 [0.29–0.54]
RankingsWhere APBB2 stands among ~20K protein-coding genes
  • #8,040of 20,598
    Most Researched56
  • #3,414of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedAPBB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A review of opioid addiction genetics.
PMID: 30118972
Curr Opin Psychol · 2019
1.00
2
Genetic association of the APP binding protein 2 gene (APBB2) with late onset Alzheimer disease.
PMID: 15714520
Hum Mutat · 2005
0.90
3
APBB2 is associated with amphetamine use and plasma beta-amyloids in patients receiving methadone maintenance treatment.
PMID: 29330135
Prog Neuropsychopharmacol Biol Psychiatry · 2018
0.80
4
Hsa-miR-30a-3p attenuates gastric adenocarcinoma proliferation and metastasis via APBB2.
PMID: 34182542
Aging (Albany NY) · 2021
0.70
5
Mapping of the human and murine X11-like genes (APBA2 and apba2), the murine Fe65 gene (Apbb1), and the human Fe65-like gene (APBB2): genes encoding phosphotyrosine-binding domain proteins that interact with the Alzheimer's disease amyloid precursor protein.
PMID: 9585438
Mamm Genome · 1998
0.60