APOBR
protein-codingapolipoprotein B receptor
Gene summary
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]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~4.3 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to APOBR variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_018690.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 9 | 10 | |||
| missense | 83 | 15 | 1 | 99 | ||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 85 | 24 | 1 | 110 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_061160.3 | 4 | MANE Select | |
| Ensembl | ENSP00000457539.1 | 4 | MANE Select | |
| Ensembl | ENSP00000545866.1 | 4 | Standard | |
| Ensembl | ENSP00000545866.1 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- VLDL clearance
- Plasma lipoprotein clearance
- Transport of small molecules
- Plasma lipoprotein assembly, remodeling, and clearance
Biological Process
- triglyceride metabolic process
- lipid transport
- receptor-mediated endocytosis
- cholesterol metabolic process
- very-low-density lipoprotein particle clearance
Molecular Function
- very-low-density lipoprotein particle receptor activity
Cellular Component
- plasma membrane
- membrane
- very-low-density lipoprotein particle
- low-density lipoprotein particle
- chylomicron
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000564831
- Coding exons
- 4
- Length
- 4322
- Individuals with no LoFs
- 124312
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 37
- Defined
- 124349
- p
- 0.000149
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 0.420 | 545 | 573 | 0.951 | 0.0000330 | 6882 |
| Missense (PolyPhen) | 75 | 89.333 | 0.83956 | 1031 | ||
| Synonymous | -1.47 | 274 | 245 | 1.12 | 0.0000160 | 2278 |
| Loss of Function | 2.61 | 17 | 33.3 | 0.511 | 0.00000150 | 463 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00021 | 0.00019 | rare |
| Latino/Admixed American | 0.00066 | 0.00061 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00012 | 0.00011 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000085 | 0.000080 | rare |
| South Asian | 0.000034 | 0.000033 | rare |
| Other | 0.00017 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL). Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG- VLDL, and trypsinized (tryp) VLDL devoid of APOE in vitro in macrophages. {ECO:0000269|PubMed:10852956, ECO:0000269|PubMed:15591219, ECO:0000269|PubMed:9633939}.;
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |