APOBR

Chr 16

apolipoprotein B receptor

Also known as: APOB100R, APOB48R

NCBI Gene: 55911 ENSG00000184730 OMIM: 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.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

LOEUF 0.77

Clinical Summary— APOBR

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

76 VUS of 114 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 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

114 submitted variants in ClinVar

ClinVar

Classification Summary

VUS76

Likely Benign23

Benign2

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	76	0	76
Likely Benign	14	9	23
Benign	2	0	2
Total	92	9	101

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

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68 pathogenic / likely-pathogenic (of 90) ClinVar copy-number / structural variants overlap APOBR — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →