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 apolipoprotein B48 on dietary triglyceride-rich lipoproteins and mediates their uptake, providing essential lipids to reticuloendothelial cells. This gene is highly constrained against loss-of-function variants (LOEUF 0.767), but no definitive human disease associations have been established from the provided data. Further clinical and genetic studies are needed to determine if APOBR mutations cause human disease.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.77
Clinical Summary— APOBR
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
68 unique Pathogenic / Likely Pathogenic· 96 VUS of 204 total submissions
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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 OE0.51 (0.35–0.77)
0≤0.351.4
Missense OE0.95 (0.89–1.02)
0≤0.61.4
Synonymous OE1.12
0≤1.21.6
LoF obs/exp: 17 / 33.3Missense obs/exp: 545 / 573.3Syn Z: -1.47

ClinVar Variant Classifications

204 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic63
Likely Pathogenic5
VUS96
Likely Benign24
Benign2
63
Pathogenic
5
Likely Pathogenic
96
VUS
24
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
63
0
63
Likely Pathogenic
0
0
5
0
5
VUS
0
76
20
0
96
Likely Benign
0
14
1
9
24
Benign
0
2
0
0
2
Total092899190

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

View in 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.

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
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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