AP2B1

Chr 17

adaptor related protein complex 2 subunit beta 1

Also known as: ADTB2, AP105B, AP2-BETA, CLAPB1

NCBI Gene: 163ENSG00000006125UniProt: P63010

The protein encoded by this gene is one of two large chain components of the assembly protein complex 2, which serves to link clathrin to receptors in coated vesicles. The encoded protein is found on the cytoplasmic face of coated vesicles in the plasma membrane. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

0
Active trials
7
Pathogenic / LP
58
ClinVar variants
5
Pubs (1 yr)
5.2
Missense Z· constrained
0.26
LOEUF· LoF intolerant
Clinical Summary— AP2B1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 50 VUS of 58 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.26LOEUF
pLI 0.998
Z-score 5.39
OE 0.13 (0.07–0.26)
Highly constrained

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

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
5.17Z-score
OE missense 0.37 (0.33–0.41)
193 obs / 526.7 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.13 (0.07–0.26)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.37 (0.33–0.41)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.90
0≤1.21.6
LoF obs/exp: 6 / 45.0Missense obs/exp: 193 / 526.7Syn Z: 1.11

ClinVar Variant Classifications

58 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
VUS50
Benign1
7
Pathogenic
50
VUS
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
0
0
0
VUS
0
44
6
0
50
Likely Benign
0
0
0
0
0
Benign
0
0
0
1
1
Total04413158

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

AP2B1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Screening and Bioinformatics Analyses of Key miRNAs Associated with Toll-like Receptor Activation in Gastric Cancer Cells
Huang X et al.·Medicina (Kaunas)
2023
Top-Down Proteomics Study of Aging and Sexual Dimorphism of Zebrafish Brains
Askarani MF et al.·J Mass Spectrom
2026Functional
Effects of Luteolin on Human Breast Cancer Using Gene Expression Array: Inferring Novel Genes
Wang SH et al.·Curr Issues Mol Biol
2022
FMRP-dependent translational control negatively regulates adapter protein complex 2-mediated endocytosis
Shi L et al.·iScience
2025
Cellular SLC35B4 promotes internalization during influenza A virus entry
Wang G et al.·mBio
2025
NRF1-mediated microglial activation triggers high-altitude cerebral edema
Wang X et al.·J Mol Cell Biol
2022
One-step labeling with a fluorinated porphyrin-based probe enables in situ imaging and profiling of the thiol proteome.
Liu Z et al.·Innovation (Camb)
2025
Cerebrospinal fluid biomarker panel of synaptic dysfunction in Alzheimer's disease and other neurodegenerative disorders
Nilsson J et al.·Alzheimers Dement
2022
Proteomic characterization of hUC-MSC extracellular vesicles and evaluation of its therapeutic potential to treat Alzheimer's disease
Li S et al.·Sci Rep
2024
Top 9 full-text resultsSearch PubTator3 ↗

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