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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ABI3
ABI family member 3
Chromosome 17 · 17q21.32
NCBI Gene: 51225Ensembl: ENSG00000108798.10HGNC: HGNC:29859UniProt: Q9P2A4
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
membraneregulation of cell migrationprotein bindingidentical protein bindingAlzheimer diseaselate-onset Alzheimers diseaseHypermetropiaWheezing
✦AI Summary

ABI3 (ABI family member 3) is a microglial-expressed protein that functions as a suppressor of tumor metastasis and modulator of Alzheimer's disease (AD) pathogenesis. Mechanistically, ABI3 regulates actin cytoskeleton organization and cell migration through its role in the SCAR complex and as a signaling adaptor protein 1. In cancer, ABI3 acts as a tumor suppressor, with reduced expression in thyroid carcinomas via promoter hypermethylation, and ectopic expression inhibits cell proliferation, invasion, and migration 2. In AD, rare coding variants in ABI3 (rs616338: p.Ser209Phe) increase disease susceptibility across multiple ethnicities, implicating microglial-mediated innate immunity 34. ABI3 is primarily expressed by microglia, including disease-associated microglia in APP/PS1 transgenic mice 5. Notably, ABI3 expression increases with AD neuropathology, though not associated with genetic variants 5. Loss of Abi3-Gngt2 in mice reduces amyloid-β deposition but exacerbates tau pathology, suggesting opposing effects on AD hallmarks 6. Clinically, ABI3 levels are significantly decreased in serum, cerebrospinal fluid, and peripheral blood mononuclear cells of AD patients, correlating with cognitive decline and showing diagnostic utility as an early AD biomarker 7. Collectively, ABI3 represents a microglial checkpoint gene linking immune dysfunction to both tumor suppression and neurodegeneration.

Sources cited
1
Identified rare coding variant rs616338 (p.Ser209Phe) in ABI3 associated with increased Alzheimer's disease risk; variant located in gene highly expressed in microglia
PMID: 28714976
2
Confirmed transethnic association of ABI3 rs616338 variant with Alzheimer's disease susceptibility across Caucasian and Argentine populations
PMID: 30705288
3
Demonstrated ABI3 expression restricted to microglia, increased with AD neuropathology; identified novel ABI3 isoforms with tendency to aggregate in vitro
PMID: 36140776
4
Showed ABI3 functions as tumor suppressor in thyroid cancer; ectopic expression inhibits proliferation, invasion, migration; silencing occurs via promoter hypermethylation
PMID: 27036019
5
Comprehensive pan-cancer analysis confirming ABI3 suppresses ectopic metastasis and hinders tumor cell migration; regulates actin cytoskeleton organization
PMID: 37942289
6
Deletion of Abi3-Gngt2 reduces amyloid-β deposition but exacerbates tau pathology in transgenic mice; S209F mutation alters ABI3 phosphorylation
PMID: 35897046
7
ABI3 levels significantly decreased in serum, CSF, and PBMCs of AD patients; correlates with cognitive decline and serves as early diagnostic biomarker
PMID: 35275543
8
Identified ABI3 as genetic risk factor for Alzheimer's disease linked to dysregulated microglial phagocytosis
PMID: 41315858
Disease Associationsⓘ20
Alzheimer diseaseOpen Targets
0.36Weak
late-onset Alzheimers diseaseOpen Targets
0.32Weak
HypermetropiaOpen Targets
0.13Weak
WheezingOpen Targets
0.12Weak
myopiaOpen Targets
0.10Weak
Abnormality of refractionOpen Targets
0.09Suggestive
cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
thyroid carcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.07Suggestive
refractive errorOpen Targets
0.05Suggestive
hypertensionOpen Targets
0.05Suggestive
Progressive visual lossOpen Targets
0.05Suggestive
atherosclerosisOpen Targets
0.03Suggestive
follicular thyroid carcinomaOpen Targets
0.03Suggestive
upper respiratory tract disorderOpen Targets
0.03Suggestive
goutOpen Targets
0.02Suggestive
supranuclear palsy, progressive, 1Open Targets
0.02Suggestive
myocardial infarctionOpen Targets
0.02Suggestive
Nasu-Hakola diseaseOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ABI3BPProtein interaction100%CYFIP1Protein interaction99%NCKAP1Protein interaction99%NCKAP1LProtein interaction98%BRK1Protein interaction97%WASF2Protein interaction97%
Tissue Expression6 tissues
Lung
100%
Heart
31%
Brain
23%
Liver
23%
Bone Marrow
16%
Ovary
15%
Gene Interaction Network
Click a node to explore
ABI3ABI3BPCYFIP1NCKAP1NCKAP1LBRK1WASF2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9P2A4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.57–1.11]
RankingsWhere ABI3 stands among ~20K protein-coding genes
  • #10,271of 20,598
    Most Researched39
  • #11,421of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedABI3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Microglial phagocytosis in Alzheimer disease.
PMID: 41315858
Nat Rev Neurol · 2026
1.00
2
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.
PMID: 28714976
Nat Genet · 2017
0.90
3
Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease.
PMID: 30705288
Transl Psychiatry · 2019
0.80
4
Identification and Quantitation of Novel
PMID: 36140776
Genes (Basel) · 2022
0.70
5
Transcriptional regulation of the potential tumor suppressor ABI3 gene in thyroid carcinomas: interplay between methylation and NKX2-1 availability.
PMID: 27036019
Oncotarget · 2016
0.60