APBB2

Chr 4

amyloid beta precursor protein binding family B member 2

Also known as: FE65L, FE65L1

NCBI Gene: 323ENSG00000163697UniProt: Q92870OMIM: 602710

The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.44
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.44LOEUF
pLI 0.065
Z-score 4.26
OE 0.26 (0.16–0.44)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.12Z-score
OE missense 0.72 (0.65–0.79)
320 obs / 446.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.26 (0.16–0.44)
0≤0.351.4
Missense OE?0.72 (0.65–0.79)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 10 / 38.5Missense obs/exp: 320 / 446.2Syn Z: 0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

APBB2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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