APBA2

Chr 15

amyloid beta precursor protein binding family A member 2

Also known as: D15S1518E, HsT16821, LIN-10, MGC:14091, MINT2, X11-BETA, X11L

NCBI Gene: 321ENSG00000034053UniProt: Q99767OMIM: 602712

APBA2 encodes a neuronal adapter protein that functions in synaptic vesicle exocytosis by binding to STXBP1 and also modulates amyloid precursor protein processing. Mutations cause autosomal dominant epileptic encephalopathy with onset typically in infancy or early childhood. The gene shows significant constraint against loss-of-function variants, suggesting haploinsufficiency as a likely disease mechanism.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.38
Clinical Summary— APBA2
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.74) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.38LOEUF
pLI 0.743
Z-score 4.15
OE 0.19 (0.11–0.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.46Z-score
OE missense 0.81 (0.74–0.88)
363 obs / 450.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.11–0.38)
0≤0.351.4
Missense OE0.81 (0.74–0.88)
0≤0.61.4
Synonymous OE1.14
0≤1.21.6
LoF obs/exp: 6 / 30.8Missense obs/exp: 363 / 450.1Syn Z: -1.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

APBA2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Prenatal diagnosis of a familial 15q13.1q13.2 microdeletion encompassing APBA2, ENTREP2, NSMCE3 and TJP1 without apparently phenotypic abnormality in the neonate and the family carrier members in three generations.
Chen CP·Taiwan J Obstet Gynecol
2026
Identification of epigenetic modifications mediating the antagonistic effect of selenium against cadmium-induced breast carcinogenesis.
Liang ZZ et al.·Environ Sci Pollut Res Int
2022
Evaluation of cerebrospinal fluid (CSF) and interstitial fluid (ISF) mouse proteomes for the validation and description of Alzheimer's disease biomarkers.
Górska AM et al.·J Neurosci Methods
2024Functional
Epigenome-Wide Association Study in Peripheral Tissues Highlights DNA Methylation Profiles Associated with Episodic Memory Performance in Humans
Sommerer Y et al.·Biomedicines
2022
Changes in Expression of Key Genes in Alzheimer's Disease: A Specific Brain Tissue Change.
Rasmussen LT et al.·J Gerontol A Biol Sci Med Sci
2024
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients