AP3B2

Chr 15AR

adaptor related protein complex 3 subunit beta 2

Also known as: DEE48, EIEE48, NAPTB

NCBI Gene: 8120ENSG00000103723UniProt: Q13367OMIM: 602166

The AP3B2 protein is the beta subunit of the neuron-specific adaptor protein complex 3 (AP-3), which mediates protein sorting in the late-Golgi/trans-Golgi network and targeting of cargos to neurites and nerve terminals. Biallelic mutations cause developmental and epileptic encephalopathy 48, an early-onset seizure disorder with autosomal recessive inheritance. The gene shows high constraint against loss-of-function variants (LOEUF 0.342), indicating that such variants are likely pathogenic.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.341 OMIM phenotype
Clinical Summary— AP3B2
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Gene-Disease Validity (ClinGen)
genetic developmental and epileptic encephalopathy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.77) — some intolerance to loss-of-function variants.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.772
Z-score 5.37
OE 0.21 (0.13–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.92Z-score
OE missense 0.67 (0.62–0.73)
413 obs / 617.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.21 (0.13–0.34)
0≤0.351.4
Missense OE0.67 (0.62–0.73)
0≤0.61.4
Synonymous OE1.01
0≤1.21.6
LoF obs/exp: 11 / 53.3Missense obs/exp: 413 / 617.3Syn Z: -0.15

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AP3B2 · 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
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Seizures, increased interhemispheric synchrony, altered brain transcriptomics and a leaky blood-brain barrier result from loss of ap3b2 in a CRISPR tadpole model of DEE48.
Banerjee S et al.·Front Neurol
2026Open AccessFunctional
Novel homozygous AP3B2 mutations in four individuals with developmental and epileptic encephalopathy: A rare clinical entity.
Dilber C et al.·Clin Neurol Neurosurg
2022
Plasma lncRNA LOC338963 and mRNA AP3B2 are upregulated in paraneoplastic Lambert-Eaton myasthenic syndrome.
Yang F et al.·Muscle Nerve
2022
Mild Cognitive Impairment in Chronic Brain Injury Associated with Serum Anti-AP3B2 Autoantibodies: Report and Literature Review.
Hansen N et al.·Brain Sci
2021Open AccessReview
Blended phenotype of combination of HERC2 and AP3B2 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15.
Ueda K et al.·Am J Med Genet A
2021
Top 5 resultsSearch Europe PMC ↗

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