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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LRP1B
LDL receptor related protein 1B
Chromosome 2 Β· 2q22.1-q22.2
NCBI Gene: 53353Ensembl: ENSG00000168702.18HGNC: HGNC:6693UniProt: Q9NZR2
79PubMed Papers
20Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsignaling receptor complexlow-density lipoprotein particle receptor activityplasma membranelung adenocarcinomaprostate adenocarcinomacutaneous melanomasmall cell lung carcinoma
✦AI Summary

LRP1B (LDL receptor related protein 1B) is a large cell surface receptor protein that functions in receptor-mediated endocytosis, binding and internalizing ligands at the plasma membrane 1. As a member of the LDLR protein family, LRP1B performs cargo transport and cell signaling functions 1. The protein is frequently altered in human cancers, with LRP1B being among the most commonly mutated genes across cancer types 12. LRP1B alterations are consistently found in gastric cancer alongside TP53 and ARID1A mutations 2, and mutations occur in lung cancers including SMARCA4-deficient NSCLC 3 and brain metastases 4. In cervical cancer, HPV integration into LRP1B introns downregulates protein expression 5. Beyond oncology, LRP1B variants are associated with accelerated progression to dementia in Parkinson's disease patients 6. The gene serves as a potential biomarker, with LRP1B mutations correlating with high tumor mutation burden and treatment response in rectal cancer 7. Despite being frequently inactivated and regarded as a putative tumor suppressor, LRP1B's exact mechanisms in cancer remain incompletely understood due to technical challenges associated with studying this giant protein 1.

Sources cited
1
LRP1B is a giant member of the LDLR protein family functioning in receptor-mediated endocytosis and is among the most altered genes in human cancer
PMID: 34577535
2
LRP1B is consistently one of the most frequently altered genes in gastric cancer across all population groups
PMID: 36240980
3
LRP1B mutations are found in SMARCA4-deficient non-small cell lung cancer patients
PMID: 37184108
4
LRP1B mutations are shared between primary lung cancers and brain metastasis lesions
PMID: 39593114
5
HPV integration into LRP1B introns downregulates protein expression in cervical cancer
PMID: 25581428
6
LRP1B locus is associated with progression to Parkinson's disease dementia
PMID: 36348503
7
LRP1B mutations are associated with high tumor mutation burden and treatment response in rectal cancer
PMID: 38381429
Disease Associationsβ“˜20
lung adenocarcinomaOpen Targets
0.47Moderate
prostate adenocarcinomaOpen Targets
0.45Moderate
cutaneous melanomaOpen Targets
0.44Moderate
small cell lung carcinomaOpen Targets
0.43Moderate
squamous cell lung carcinomaOpen Targets
0.41Moderate
melanomaOpen Targets
0.41Moderate
genetic disorderOpen Targets
0.39Weak
obesityOpen Targets
0.38Weak
connective tissue neoplasmOpen Targets
0.37Weak
skin basal cell carcinomaOpen Targets
0.37Weak
hemangioblastomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
Merkel cell skin cancerOpen Targets
0.37Weak
pancreatic ductal adenocarcinomaOpen Targets
0.37Weak
prostate carcinomaOpen Targets
0.37Weak
DNA methylationOpen Targets
0.37Weak
Meningothelial MeningiomaOpen Targets
0.37Weak
nodular melanomaOpen Targets
0.37Weak
skin squamous cell carcinomaOpen Targets
0.37Weak
undifferentiated pleomorphic sarcomaOpen Targets
0.37Weak
Pathogenic Variants6
NM_018557.3(LRP1B):c.4357C>A (p.Leu1453Ile)Likely pathogenic
Inborn genetic diseases
β˜†β˜†β˜†β˜†β†’ Residue 1453
NM_018557.3(LRP1B):c.3978T>C (p.Ile1326=)Likely pathogenic
Inborn genetic diseases
β˜†β˜†β˜†β˜†β†’ Residue 1326
NM_018557.3(LRP1B):c.5062A>G (p.Ile1688Val)Likely pathogenic
Inborn genetic diseases
β˜†β˜†β˜†β˜†β†’ Residue 1688
NM_018557.3(LRP1B):c.12253A>G (p.Ile4085Val)Likely pathogenic
Inborn genetic diseases
β˜†β˜†β˜†β˜†β†’ Residue 4085
NM_018557.3(LRP1B):c.3699C>A (p.His1233Gln)Likely pathogenic
Inborn genetic diseases
β˜†β˜†β˜†β˜†β†’ Residue 1233
NM_018557.3(LRP1B):c.3581G>T (p.Gly1194Val)Likely pathogenic
Inborn genetic diseases
β˜†β˜†β˜†β˜†β†’ Residue 1194
View on ClinVar β†—
Related Genes
CSMD3Protein interaction78%PTPRDProtein interaction75%MUC16Protein interaction72%MRC1Shared pathway50%ZG16Shared pathway50%CCDC158Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Heart
4%
Bone Marrow
3%
Ovary
3%
Liver
3%
Lung
1%
Gene Interaction Network
Click a node to explore
LRP1BCSMD3PTPRDMUC16MRC1ZG16CCDC158
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NZR2
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.37 [0.32–0.42]
RankingsWhere LRP1B stands among ~20K protein-coding genes
  • #6,004of 20,598
    Most Researched79
  • #3,359of 5,498
    Most Pathogenic Variants6
  • #2,205of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedLRP1B
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Characteristics of gastric cancer around the world.
PMID: 36240980
Crit Rev Oncol Hematol Β· 2023
1.00
2
Clinical characteristics and prognostic analysis of SMARCA4-deficient non-small cell lung cancer.
PMID: 37184108
Cancer Med Β· 2023
0.90
3
Differential chromatin accessibility and transcriptional dynamics define breast cancer subtypes and their lineages.
PMID: 39478117
Nat Cancer Β· 2024
0.80
4
Total Neoadjuvant Therapy With PD-1 Blockade for High-Risk Proficient Mismatch Repair Rectal Cancer.
PMID: 38381429
JAMA Surg Β· 2024
0.70
5
Genome-wide profiling of HPV integration in cervical cancer identifies clustered genomic hot spots and a potential microhomology-mediated integration mechanism.
PMID: 25581428
Nat Genet Β· 2015
0.60