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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
VLDLR
very low density lipoprotein receptor
Chromosome 9 Β· 9p24.2
NCBI Gene: 7436Ensembl: ENSG00000147852.17HGNC: HGNC:12698UniProt: A0A7P0T897
133PubMed Papers
21Diseases
0Drugs
62Pathogenic Variants
FUNCTIONAL ROLE
ReceptorTransporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
very-low-density lipoprotein particle clearancesignaling receptor complexvirus receptor activityprotein bindingDysequilibrium syndromeCerebellar hypoplasiacerebellar ataxia, intellectual disability, and dysequilibriumalcohol drinking
✦AI Summary

VLDLR (very low density lipoprotein receptor) is a cell surface receptor that primarily functions in lipoprotein metabolism and neuronal signaling. The receptor binds and internalizes apoE- and apoB-containing lipoproteins, including LDL and VLDL, regulating their cellular uptake and contributing to cholesterol homeostasis 1. In the nervous system, VLDLR serves as a core component of the Reelin signaling pathway alongside ApoER2, facilitating neuronal migration, dendritic growth and branching, synaptogenesis, and synaptic plasticity during brain development and maturation 2. VLDLR also functions as a viral receptor, with recent studies identifying it as a receptor for multiple alphaviruses including Semliki Forest virus, eastern equine encephalitis virus, and Sindbis virus 3. Disease relevance includes cerebellar ataxia and intellectual development disorders, while a protective variant (RELN-COLBOS) that enhances VLDLR/ApoER2 signaling has been associated with resilience to Alzheimer's disease 4. In pathological contexts, VLDLR promotes lipid metabolism in pancreatic stellate cells, contributing to pancreatic fibrosis through IL-33-mediated inflammatory responses 5, and its signaling pathway disruption is implicated in various neurological disorders including autism, schizophrenia, and epilepsy 2.

Sources cited
1
VLDLR binds and internalizes apoE- and apoB-containing lipoproteins for cholesterol homeostasis
PMID: 22461740
2
VLDLR is a core Reelin receptor involved in neuronal migration, dendritic growth, and synaptic plasticity
PMID: 32604886
3
VLDLR serves as a receptor for multiple alphaviruses including Semliki Forest virus
PMID: 34929721
4
RELN-COLBOS variant enhances VLDLR/ApoER2 signaling and provides Alzheimer's disease resilience
PMID: 37188781
5
VLDLR promotes lipid metabolism in pancreatic stellate cells leading to fibrosis
PMID: 35738281
Disease Associationsβ“˜21
Dysequilibrium syndromeOpen Targets
0.79Strong
Cerebellar hypoplasiaOpen Targets
0.55Moderate
cerebellar ataxia, intellectual disability, and dysequilibriumOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.34Weak
genetic disorderOpen Targets
0.34Weak
Abnormality of the nervous systemOpen Targets
0.34Weak
hyperlipidemiaOpen Targets
0.34Weak
metabolic diseaseOpen Targets
0.33Weak
adolescent idiopathic scoliosisOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.31Weak
isolated cerebellar hypoplasia/agenesisOpen Targets
0.19Weak
injuryOpen Targets
0.17Weak
systemic lupus erythematosusOpen Targets
0.16Weak
cervical carcinomaOpen Targets
0.16Weak
Intellectual disabilityOpen Targets
0.16Weak
Primary amenorrheaOpen Targets
0.12Weak
microcephalyOpen Targets
0.11Weak
infectionOpen Targets
0.10Suggestive
X-linked retinal dysplasiaOpen Targets
0.10Suggestive
retinitis pigmentosaOpen Targets
0.09Suggestive
Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1UniProt
Pathogenic Variants62
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)Pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
β˜…β˜…β˜†β˜†2024β†’ Residue 822
NM_003383.5(VLDLR):c.325+1G>ALikely pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1|not provided
β˜…β˜…β˜†β˜†2024
NM_003383.5(VLDLR):c.835C>T (p.Arg279Ter)Pathogenic
not provided|Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
β˜…β˜…β˜†β˜†2024β†’ Residue 279
NM_003383.5(VLDLR):c.449-2A>TLikely pathogenic
not provided|Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
β˜…β˜…β˜†β˜†2024
NM_003383.5(VLDLR):c.1586G>A (p.Trp529Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 529
NM_003383.5(VLDLR):c.2252-2A>CLikely pathogenic
not provided|Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
β˜…β˜…β˜†β˜†2024
NM_003383.5(VLDLR):c.83-1G>APathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1|not provided
β˜…β˜…β˜†β˜†2023
NM_003383.5(VLDLR):c.1186+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2026
NM_003383.5(VLDLR):c.2239C>T (p.Arg747Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 747
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe)Pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1|Cerebellar hypoplasia
β˜…β˜†β˜†β˜†2024β†’ Residue 706
NM_003383.5(VLDLR):c.2417-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003383.5(VLDLR):c.1200C>A (p.Cys400Ter)Likely pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
β˜…β˜†β˜†β˜†2024β†’ Residue 400
NM_003383.5(VLDLR):c.2417-1G>TLikely pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
β˜…β˜†β˜†β˜†2024
NM_003383.5(VLDLR):c.2158del (p.Leu720fs)Likely pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
β˜…β˜†β˜†β˜†2024β†’ Residue 720
NM_003383.5(VLDLR):c.1066+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003383.5(VLDLR):c.2278G>T (p.Glu760Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 760
NM_003383.5(VLDLR):c.820_820+1delinsTCLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_003383.5(VLDLR):c.436del (p.Glu146fs)Likely pathogenic
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1
β˜…β˜†β˜†β˜†2024β†’ Residue 146
NM_003383.5(VLDLR):c.1983del (p.Asp661fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 661
NM_003383.5(VLDLR):c.1240A>T (p.Lys414Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 414
View on ClinVar β†—
Related Genes
RELNProtein interaction100%APOA1Protein interaction99%LRPAP1Protein interaction96%APOA5Protein interaction94%SH3KBP1Protein interaction94%APOBProtein interaction90%
Tissue Expression6 tissues
Heart
100%
Ovary
93%
Lung
12%
Brain
11%
Bone Marrow
4%
Liver
3%
Gene Interaction Network
Click a node to explore
VLDLRRELNAPOA1LRPAP1APOA5SH3KBP1APOB
PROTEIN STRUCTURE
Preparing viewer…
PDB9DQZ Β· 2.90 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.57–0.83]
RankingsWhere VLDLR stands among ~20K protein-coding genes
  • #3,505of 20,598
    Most Researched133 Β· top quartile
  • #1,143of 5,498
    Most Pathogenic Variants62 Β· top quartile
  • #7,051of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedVLDLR
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Novel vectors and approaches for gene therapy in liver diseases.
PMID: 34159305
JHEP Rep Β· 2021
1.00
2
VLDLR and ApoER2 are receptors for multiple alphaviruses.
PMID: 34929721
Nature Β· 2022
0.90
3
Low-density lipoprotein receptor (LDLR) family orchestrates cholesterol homeostasis.
PMID: 22461740
Yale J Biol Med Β· 2012
0.80
4
Postprandial Hyperlipidemia: Its Pathophysiology, Diagnosis, Atherogenesis, and Treatments.
PMID: 37762244
Int J Mol Sci Β· 2023
0.70
5
Reelin Functions, Mechanisms of Action and Signaling Pathways During Brain Development and Maturation.
PMID: 32604886
Biomolecules Β· 2020
0.60