APOBR

Chr 16

apolipoprotein B receptor

Also known as: APOB100R, APOB48R

NCBI Gene: 55911ENSG00000184730UniProt: Q0VD83OMIM: 605220

Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.77
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.77LOEUF
pLI 0.000
Z-score 2.61
OE 0.51 (0.35–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.42Z-score
OE missense 0.95 (0.89–1.02)
545 obs / 573.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.35–0.77)
0≤0.351.4
Missense OE?0.95 (0.89–1.02)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 17 / 33.3Missense obs/exp: 545 / 573.3Syn Z: -1.47

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

APOBR · 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